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    ASB6 ankyrin repeat and SOCS box containing 6 [ Homo sapiens (human) ]

    Gene ID: 140459, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ASB6provided by HGNC
    Official Full Name
    ankyrin repeat and SOCS box containing 6provided by HGNC
    Primary source
    HGNC:HGNC:17181
    See related
    Ensembl:ENSG00000148331 MIM:615051; AllianceGenome:HGNC:17181
    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
    Summary
    The protein encoded by this gene belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 8.1), bone marrow (RPKM 7.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASB6 in Genome Data Viewer
    Location:
    9q34.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (129634605..129642151, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (141839213..141846767, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132396884..132404430, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29113 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132346053-132346610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132349961-132350644 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132362549-132363048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132366575-132367074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132369161-132369798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20384 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132373341-132373842 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132373843-132374342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132382842-132383492 Neighboring gene chromosome 9 open reading frame 50 Neighboring gene N-terminal Xaa-Pro-Lys N-methyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29117 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29118 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132388415-132388953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132393630-132394420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132402376-132402933 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132402934-132403490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132409664-132410412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132431437-132431938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132431939-132432438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132439411-132440254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132441550-132442050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132442051-132442551 Neighboring gene paired related homeobox 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132448034-132448578 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132474701-132475516 Neighboring gene PRRX2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132486991-132487490 Neighboring gene uncharacterized LOC124902284 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132489030-132489223

    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. CUL5-ASB6 Complex Promotes p62/SQSTM1 Ubiquitination and Degradation to Regulate Cell Proliferation and Autophagy. Gong L, et al. Front Cell Dev Biol, 2021. PMID 34164402, Free PMC Article
    2. A novel protein encoded by circINSIG1 reprograms cholesterol metabolism by promoting the ubiquitin-dependent degradation of INSIG1 in colorectal cancer. Xiong L, et al. Mol Cancer, 2023 Apr 22. PMID 37087475, Free PMC Article
    3. m(6)A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation. Zeng W, et al. Cell Death Dis, 2022 Nov 29. PMID 36446779, Free PMC Article
    4. Asb6, an adipocyte-specific ankyrin and SOCS box protein, interacts with APS to enable recruitment of elongins B and C to the insulin receptor signaling complex. Wilcox A, et al. J Biol Chem, 2004 Sep 10. PMID 15231829
    5. RNF41 interacts with the VPS52 subunit of the GARP and EARP complexes. Masschaele D, et al. PLoS One, 2017. PMID 28542518, Free PMC Article

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. m[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation.
      Title: m(6)A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC1024, FLJ20548

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and SOCS box protein 6

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001202403.2 → NP_001189332.1  ankyrin repeat and SOCS box protein 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AL590369
      Consensus CDS
      CCDS75919.1
      UniProtKB/TrEMBL
      A8K9U2, F6TX30
      Related
      ENSP00000416172.3, ENST00000450050.6
      Conserved Domains (5) summary
      PHA02884
      Location:7 → 130
      PHA02884; ankyrin repeat protein; Provisional
      cd00204
      Location:71 → 171
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd03725
      Location:341 → 384
      SOCS_ASB6; SOCS (suppressors of cytokine signaling) box of ASB6-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ASB6 interacts with the adaptor protein APS and recruits elongin B/C to the insulin receptor ...
      sd00045
      Location:72 → 99
      ANK; ANK repeat [structural motif]
      cl26073
      Location:88 → 256
      Ank_2; Ankyrin repeats (3 copies)

    2. NM_017873.4 → NP_060343.1  ankyrin repeat and SOCS box protein 6 isoform 1

      See identical proteins and their annotated locations for NP_060343.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL590369
      Consensus CDS
      CCDS6924.1
      UniProtKB/Swiss-Prot
      Q5SZB7, Q9BV15, Q9NWX5
      UniProtKB/TrEMBL
      A8K9U2
      Related
      ENSP00000277458.4, ENST00000277458.5
      Conserved Domains (5) summary
      PHA02884
      Location:7 → 130
      PHA02884; ankyrin repeat protein; Provisional
      cd00204
      Location:71 → 197
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd03725
      Location:370 → 413
      SOCS_ASB6; SOCS (suppressors of cytokine signaling) box of ASB6-like proteins. ASB family members have a C-terminal SOCS box and an N-terminal ankyrin-related sequence. ASB6 interacts with the adaptor protein APS and recruits elongin B/C to the insulin receptor ...
      sd00045
      Location:105 → 133
      ANK; ANK repeat [structural motif]
      cl26073
      Location:133 → 285
      Ank_2; Ankyrin repeats (3 copies)

    3. NM_177999.3 → NP_821066.1  ankyrin repeat and SOCS box protein 6 isoform 2

      See identical proteins and their annotated locations for NP_821066.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region, which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (2) is shorter and has a unique C-terminus compared to isoform 1.
      Source sequence(s)
      AL590369
      Consensus CDS
      CCDS6925.1
      UniProtKB/Swiss-Prot
      Q9NWX5
      Related
      ENSP00000277459.4, ENST00000277459.8
      Conserved Domains (3) summary
      PHA02884
      Location:7 → 130
      PHA02884; ankyrin repeat protein; Provisional
      cd00204
      Location:71 → 160
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      sd00045
      Location:67 → 99
      ANK; ANK repeat [structural motif]

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      129634605..129642151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      141839213..141846767 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWX5.1 GenPept UniProtKB/Swiss-Prot:Q9NWX5

    Gene LinkOut

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

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