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    CBLB Cbl proto-oncogene B [ Homo sapiens (human) ]

    Gene ID: 868, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CBLBprovided by HGNC
    Official Full Name
    Cbl proto-oncogene Bprovided by HGNC
    Primary source
    HGNC:HGNC:1542
    See related
    Ensembl:ENSG00000114423 MIM:604491; AllianceGenome:HGNC:1542
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Cbl-b; RNF56; ADMIO3; Nbla00127
    Summary
    This gene encodes an E3 ubiquitin-protein ligase which promotes proteosome-mediated protein degradation by transferring ubiquitin from an E2 ubiquitin-conjugating enzyme to a substrate. The encoded protein is involved in the regulation of immune response by limiting T-cell receptor, B-cell receptor, and high affinity immunoglobulin epsilon receptor activation. Studies in mouse suggest that this gene is involved in antifungal host defense and that its inhibition leads to increased fungal killing. Manipulation of this gene may be beneficial in implementing immunotherapies for a variety of conditions, including cancer, autoimmune diseases, allergies, and infections. [provided by RefSeq, Sep 2017]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.7), gall bladder (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CBLB in Genome Data Viewer
    Location:
    3q13.11
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (105655461..105869449, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (108373636..108587751, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (105374305..105588245, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374023 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:104875813-104876646 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:105015351-105015980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20192 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:105072122-105072940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20195 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:105087774-105088274 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:105088275-105088775 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:105120863-105122062 Neighboring gene uncharacterized LOC124906263 Neighboring gene activated leukocyte cell adhesion molecule Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:105222974-105223504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:105223505-105224035 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:105438452-105439651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14582 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20197 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14583 Neighboring gene uncharacterized LOC105374024 Neighboring gene uncharacterized LOC124909403

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A multiple sclerosis-associated variant of CBLB links genetic risk with type I IFN function. Stürner KH, et al. J Immunol, 2014 Nov 1. PMID 25261476
    2. Cbl-b Is Upregulated and Plays a Negative Role in Activated Human NK Cells. Lu T, et al. J Immunol, 2021 Feb 15. PMID 33419766, Free PMC Article
    3. The effect of Casitas b-lineage lymphoma b on regulating T follicular helper in lupus nephritis. Wu J, et al. Eur Rev Med Pharmacol Sci, 2020 Apr. PMID 32373983
    4. Regulation of immune responses by E3 ubiquitin ligase Cbl-b. Tang R, et al. Cell Immunol, 2019 Jun. PMID 30442330, Free PMC Article
    5. Gene expression and linkage analysis implicate CBLB as a mediator of rituximab resistance. Jack J, et al. Pharmacogenomics J, 2018 May 22. PMID 29205205, Free PMC Article

    See all (199) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation.
      Title: Deficiency of CBL and CBLB ubiquitin ligases leads to hyper T follicular helper cell responses and lupus by reducing BCL6 degradation.
    2. [Circular RNA Cbl proto-oncogene B (circCBLB) inhibits proliferation, promotes apoptosis, and increases anti-inflammatory cytokine levels of fibroblast-like synoviocytes in rheumatoid arthritis].
      Title: [Circular RNA Cbl proto-oncogene B (circCBLB) inhibits proliferation, promotes apoptosis, and increases anti-inflammatory cytokine levels of fibroblast-like synoviocytes in rheumatoid arthritis].
    3. Cbl and Cbl-b independently regulate EGFR through distinct receptor interaction modes.
      Title: Cbl and Cbl-b independently regulate EGFR through distinct receptor interaction modes.
    4. Immune dysregulation caused by homozygous mutations in CBLB.
      Title: Immune dysregulation caused by homozygous mutations in CBLB.
    5. CBLB Deficiency in Human CD4(+) T Cells Results in Resistance to T Regulatory Suppression through Multiple Mechanisms.
      Title: CBLB Deficiency in Human CD4(+) T Cells Results in Resistance to T Regulatory Suppression through Multiple Mechanisms.
    6. miR-27b-3p Attenuates Muscle Atrophy by Targeting Cbl-b in Skeletal Muscles.
      Title: miR-27b-3p Attenuates Muscle Atrophy by Targeting Cbl-b in Skeletal Muscles.
    7. CBLB ablation with CRISPR/Cas9 enhances cytotoxicity of human placental stem cell-derived NK cells for cancer immunotherapy.
      Title: CBLB ablation with CRISPR/Cas9 enhances cytotoxicity of human placental stem cell-derived NK cells for cancer immunotherapy.
    8. Deletion of Cbl-b inhibits CD8(+) T-cell exhaustion and promotes CAR T-cell function.
      Title: Deletion of Cbl-b inhibits CD8(+) T-cell exhaustion and promotes CAR T-cell function.
    9. Cbl-b Is Upregulated and Plays a Negative Role in Activated Human NK Cells.
      Title: Cbl-b Is Upregulated and Plays a Negative Role in Activated Human NK Cells.
    10. The effect of Casitas b-lineage lymphoma b on regulating T follicular helper in lupus nephritis.
      Title: The effect of Casitas b-lineage lymphoma b on regulating T follicular helper in lupus nephritis.
    Submit: New GeneRIF Correction See all GeneRIFs (69)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autoimmune disease, multisystem, infantile-onset, 3
    MedGen: C5830600 OMIM: 620430 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 downregulates the expression of Cbl proto-oncogene B, E3 ubiquitin protein ligase (CBLB) in human B cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36865, FLJ41152, DKFZp779A0729, DKFZp779F1443, DKFZp686J10223

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphotyrosine residue binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in CD4-positive, alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in NLS-bearing protein import into nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in T cell anergy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of CD4-positive, alpha-beta T cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of T cell receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of T cell anergy IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of platelet-derived growth factor receptor-alpha signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation protein catabolic process at postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in membrane raft IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase CBL-B
    Names
    Cas-Br-M (murine) ecotropic retroviral transforming sequence b
    Cbl proto-oncogene B, E3 ubiquitin protein ligase
    Cbl proto-oncogene, E3 ubiquitin protein ligase B
    RING finger protein 56
    RING-type E3 ubiquitin transferase CBL-B
    SH3-binding protein CBL-B
    casitas B-lineage lymphoma proto-oncogene b
    signal transduction protein CBL-B
    NP_001308715.1
    NP_001308717.1
    NP_001308718.1
    NP_001308719.1
    NP_001308720.1
    NP_001308722.1
    NP_001308723.1
    NP_001308724.1
    NP_001308725.1
    NP_001308726.1
    NP_001308727.1
    NP_001308728.1
    NP_001308735.1
    NP_001308736.1
    NP_001308737.1
    NP_001308740.1
    NP_001308742.1
    NP_001308745.1
    NP_001308749.1
    NP_001308751.1
    NP_733762.2
    XP_011511559.1
    XP_011511561.2
    XP_016862884.1
    XP_016862885.1
    XP_016862886.1
    XP_016862887.1
    XP_016862889.1
    XP_047305068.1
    XP_047305069.1
    XP_047305070.1
    XP_047305071.1
    XP_047305072.1
    XP_047305073.1
    XP_047305074.1
    XP_054204200.1
    XP_054204201.1
    XP_054204202.1
    XP_054204203.1
    XP_054204204.1
    XP_054204205.1
    XP_054204206.1
    XP_054204207.1
    XP_054204208.1
    XP_054204209.1
    XP_054204210.1
    XP_054204211.1
    XP_054204212.1
    XP_054204213.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_055547.1 RefSeqGene

      Range
      5541..219092
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1179

    mRNA and Protein(s)

    1. NM_001321786.1 → NP_001308715.1  E3 ubiquitin-protein ligase CBL-B isoform a

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:276 → 372
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:401 → 443
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:959 → 999
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:72 → 195
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:199 → 282
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    2. NM_001321788.2 → NP_001308717.1  E3 ubiquitin-protein ligase CBL-B isoform b

      Status: REVIEWED

      Description
      Transcript Variant: Variants 2 and 3 encode the same isoform (b).
      Source sequence(s)
      AC016138, AC112485, AC126185
      Consensus CDS
      CCDS2948.1
      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:931 → 971
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    3. NM_001321789.1 → NP_001308718.1  E3 ubiquitin-protein ligase CBL-B isoform c

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:276 → 372
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:401 → 443
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:910 → 950
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:72 → 195
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:199 → 282
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    4. NM_001321790.2 → NP_001308719.1  E3 ubiquitin-protein ligase CBL-B isoform d

      Status: REVIEWED

      Source sequence(s)
      AC016138, AI221219, AK302533, AK316276
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:270 → 366
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:909 → 949
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:376 → 441
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:66 → 187
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:193 → 276
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    5. NM_001321791.2 → NP_001308720.1  E3 ubiquitin-protein ligase CBL-B isoform e

      Status: REVIEWED

      Description
      Transcript Variant: Variants 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:887 → 927
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    6. NM_001321793.2 → NP_001308722.1  E3 ubiquitin-protein ligase CBL-B isoform e

      Status: REVIEWED

      Description
      Transcript Variant: Variants 6 and 7 encode the same isoform (e).
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:887 → 927
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    7. NM_001321794.2 → NP_001308723.1  E3 ubiquitin-protein ligase CBL-B isoform f

      Status: REVIEWED

      Description
      Transcript Variant: Variants 8 and 9 encode the same isoform (f), which is the same length as isoform g but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:882 → 922
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    8. NM_001321795.2 → NP_001308724.1  E3 ubiquitin-protein ligase CBL-B isoform f

      Status: REVIEWED

      Description
      Transcript Variant: Variants 8 and 9 encode the same isoform (f), which is the same length as isoform g but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:882 → 922
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    9. NM_001321796.2 → NP_001308725.1  E3 ubiquitin-protein ligase CBL-B isoform g

      Status: REVIEWED

      Description
      Transcript Variant: Isoform g is the same length as isoform f but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:199 → 295
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:324 → 366
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:882 → 922
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 140
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:123 → 205
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    10. NM_001321797.2 → NP_001308726.1  E3 ubiquitin-protein ligase CBL-B isoform h

      Status: REVIEWED

      Description
      Transcript Variant: Variants 11 and 12 encode the same isoform (h), which is the same length as isoform i but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:838 → 878
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 164
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    11. NM_001321798.2 → NP_001308727.1  E3 ubiquitin-protein ligase CBL-B isoform h

      Status: REVIEWED

      Description
      Transcript Variant: Variants 11 and 12 encode the same isoform (h), which is the same length as isoform i but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485, AC126185
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:838 → 878
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 164
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    12. NM_001321799.2 → NP_001308728.1  E3 ubiquitin-protein ligase CBL-B isoform i

      Status: REVIEWED

      Description
      Transcript Variant: Isoform i is the same length as isoform h but differs in the amino acid sequence.
      Source sequence(s)
      AC016138, AC112485
      UniProtKB/TrEMBL
      B4DYP3
      Conserved Domains (5) summary
      cd09920
      Location:199 → 295
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:324 → 366
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:838 → 878
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 140
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:123 → 205
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    13. NM_001321806.2 → NP_001308735.1  E3 ubiquitin-protein ligase CBL-B isoform j

      Status: REVIEWED

      Description
      Transcript Variant: Variants 14 and 15 encode the same isoform (j).
      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:671 → 711
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    14. NM_001321807.2 → NP_001308736.1  E3 ubiquitin-protein ligase CBL-B isoform j

      Status: REVIEWED

      Description
      Transcript Variant: Variants 14 and 15 encode the same isoform (j).
      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:671 → 711
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    15. NM_001321808.2 → NP_001308737.1  E3 ubiquitin-protein ligase CBL-B isoform k

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:627 → 667
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    16. NM_001321811.2 → NP_001308740.1  E3 ubiquitin-protein ligase CBL-B isoform l

      Status: REVIEWED

      Description
      Transcript Variant: Variants 17 and 18 encode the same isoform (l).
      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:622 → 662
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    17. NM_001321813.1 → NP_001308742.1  E3 ubiquitin-protein ligase CBL-B isoform l

      Status: REVIEWED

      Description
      Transcript Variant: Variants 17 and 18 encode the same isoform (l).
      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:622 → 662
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    18. NM_001321816.2 → NP_001308745.1  E3 ubiquitin-protein ligase CBL-B isoform m

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (3) summary
      cd09920
      Location:1 → 84
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd00162
      Location:113 → 155
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      cd14392
      Location:578 → 618
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    19. NM_001321820.2 → NP_001308749.1  E3 ubiquitin-protein ligase CBL-B isoform n

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (1) summary
      cd14392
      Location:491 → 531
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    20. NM_001321822.2 → NP_001308751.1  E3 ubiquitin-protein ligase CBL-B isoform o

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      Conserved Domains (1) summary
      cd14392
      Location:488 → 528
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins

    21. NM_170662.5 → NP_733762.2  E3 ubiquitin-protein ligase CBL-B isoform b

      See identical proteins and their annotated locations for NP_733762.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AC016138, AI221219, AK094184, BC032851, BC065915, U26710
      Consensus CDS
      CCDS2948.1
      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5
      UniProtKB/TrEMBL
      B8K284
      Related
      ENSP00000377598.4, ENST00000394030.8
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:931 → 971
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    RNA

    1. NR_135806.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    2. NR_135807.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    3. NR_135808.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    4. NR_135809.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    5. NR_135810.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    6. NR_135811.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185
      Related
      ENST00000645759.1

    7. NR_135812.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC016138, AC112485, AC126185

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      105655461..105869449 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513257.2 → XP_011511559.1  E3 ubiquitin-protein ligase CBL-B isoform X2

      See identical proteins and their annotated locations for XP_011511559.1

      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5
      UniProtKB/TrEMBL
      B8K284
      Conserved Domains (5) summary
      cd09920
      Location:248 → 344
      SH2_Cbl-b_TKB; Src homology 2 (SH2) domain found in the Cbl-b TKB domain
      cd14392
      Location:931 → 971
      UBA_Cbl-b; UBA domain found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      cd16709
      Location:354 → 419
      RING-HC_Cbl-b; RING finger, HC subclass, found in E3 ubiquitin-protein ligase Cbl-b and similar proteins
      pfam02262
      Location:44 → 165
      Cbl_N; CBL proto-oncogene N-terminal domain 1
      pfam02761
      Location:171 → 254
      Cbl_N2; CBL proto-oncogene N-terminus, EF hand-like domain

    2. XM_017007398.2 → XP_016862887.1  E3 ubiquitin-protein ligase CBL-B isoform X5

      UniProtKB/TrEMBL
      B8K284

    3. XM_017007395.2 → XP_016862884.1  E3 ubiquitin-protein ligase CBL-B isoform X1

      UniProtKB/TrEMBL
      B8K284

    4. XM_047449112.1 → XP_047305068.1  E3 ubiquitin-protein ligase CBL-B isoform X2

      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5

    5. XM_017007400.2 → XP_016862889.1  E3 ubiquitin-protein ligase CBL-B isoform X6

      UniProtKB/TrEMBL
      B4DYP3

    6. XM_017007397.2 → XP_016862886.1  E3 ubiquitin-protein ligase CBL-B isoform X4

      UniProtKB/TrEMBL
      B8K284

    7. XM_017007396.2 → XP_016862885.1  E3 ubiquitin-protein ligase CBL-B isoform X3

      UniProtKB/TrEMBL
      B4DYP3

    8. XM_047449116.1 → XP_047305072.1  E3 ubiquitin-protein ligase CBL-B isoform X10

    9. XM_047449115.1 → XP_047305071.1  E3 ubiquitin-protein ligase CBL-B isoform X10

    10. XM_047449118.1 → XP_047305074.1  E3 ubiquitin-protein ligase CBL-B isoform X12

    11. XM_047449117.1 → XP_047305073.1  E3 ubiquitin-protein ligase CBL-B isoform X11

      Related
      ENSP00000384816.1, ENST00000403724.5

    12. XM_047449114.1 → XP_047305070.1  E3 ubiquitin-protein ligase CBL-B isoform X8

      Related
      ENSP00000496761.1, ENST00000646825.1

    13. XM_047449113.1 → XP_047305069.1  E3 ubiquitin-protein ligase CBL-B isoform X7

      Related
      ENSP00000494383.1, ENST00000645425.1

    14. XM_011513259.4 → XP_011511561.2  E3 ubiquitin-protein ligase CBL-B isoform X9

      UniProtKB/TrEMBL
      A0A2R8Y8D8

    RNA

    1. XR_007095761.1 RNA Sequence

    2. XR_007095762.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      108373636..108587751 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348226.1 → XP_054204201.1  E3 ubiquitin-protein ligase CBL-B isoform X2

      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5

    2. XM_054348230.1 → XP_054204205.1  E3 ubiquitin-protein ligase CBL-B isoform X5

    3. XM_054348225.1 → XP_054204200.1  E3 ubiquitin-protein ligase CBL-B isoform X1

    4. XM_054348227.1 → XP_054204202.1  E3 ubiquitin-protein ligase CBL-B isoform X2

      UniProtKB/Swiss-Prot
      A8K9S7, B7WNM4, Q13191, Q13192, Q13193, Q3LIC0, Q63Z43, Q8IVC5

    5. XM_054348231.1 → XP_054204206.1  E3 ubiquitin-protein ligase CBL-B isoform X6

    6. XM_054348229.1 → XP_054204204.1  E3 ubiquitin-protein ligase CBL-B isoform X4

    7. XM_054348228.1 → XP_054204203.1  E3 ubiquitin-protein ligase CBL-B isoform X3

    8. XM_054348236.1 → XP_054204211.1  E3 ubiquitin-protein ligase CBL-B isoform X10

    9. XM_054348235.1 → XP_054204210.1  E3 ubiquitin-protein ligase CBL-B isoform X10

    10. XM_054348238.1 → XP_054204213.1  E3 ubiquitin-protein ligase CBL-B isoform X12

    11. XM_054348237.1 → XP_054204212.1  E3 ubiquitin-protein ligase CBL-B isoform X11

    12. XM_054348233.1 → XP_054204208.1  E3 ubiquitin-protein ligase CBL-B isoform X8

    13. XM_054348232.1 → XP_054204207.1  E3 ubiquitin-protein ligase CBL-B isoform X7

    14. XM_054348234.1 → XP_054204209.1  E3 ubiquitin-protein ligase CBL-B isoform X9

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004351.1: Suppressed sequence

      Description
      NM_004351.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13191.2 GenPept UniProtKB/Swiss-Prot:Q13191

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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