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    KBTBD4 kelch repeat and BTB domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 55709, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KBTBD4provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:23761
    See related
    Ensembl:ENSG00000123444 MIM:617645; AllianceGenome:HGNC:23761
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BKLHD4; HSPC252
    Expression
    Ubiquitous expression in testis (RPKM 10.3), thyroid (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KBTBD4 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47572197..47578970, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47732619..47739392, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47593749..47600522, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902673 Neighboring gene uncharacterized LOC124902820 Neighboring gene receptor associated protein of the synapse Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47476965-47477464 Neighboring gene CUGBP Elav-like family member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47531803-47532677 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:47563719-47564218 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:47572896-47573571 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47574247-47574922 Neighboring gene RNA, 7SL, cytoplasmic 652, pseudogene Neighboring gene H3K27ac hESC enhancers GRCh37_chr11:47586662-47587162 and GRCh37_chr11:47587163-47587663 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47597510-47597690 Neighboring gene protein tyrosine phosphatase mitochondrial 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene RNA, U5E small nuclear 10, pseudogene Neighboring gene MPRA-validated peak1274 silencer Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3 Neighboring gene family with sequence similarity 180 member B

    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. Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas. Leal LF, et al. J Neuropathol Exp Neurol, 2019 Sep 1. PMID 31403685
    2. Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors. Uchida E, et al. Brain Tumor Pathol, 2022 Jul. PMID 35000018
    3. A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disorders. Kato K, et al. J Hum Genet, 2021 May. PMID 33130828
    4. Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation. Chen Z, et al. Cell Death Differ, 2022 Oct. PMID 35379950, Free PMC Article
    5. Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity. Chatrathi HE, et al. Hypertension, 2022 Jan. PMID 34878901, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation.
      Title: Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation.
    2. Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.
      Title: Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors.
    3. Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups.
      Title: Lack of KBTBD4 Mutations in Molecularly Classified Brazilian Medulloblastomas.
    Submit: New GeneRIF Correction

    Phenotypes

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    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

    • FLJ10450

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    kelch repeat and BTB domain-containing protein 4
    Names
    BTB and kelch domain containing 4
    BTB and kelch domain-containing protein 4
    kelch repeat and BTB (POZ) domain containing 4

    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_001318716.2 → NP_001305645.1  kelch repeat and BTB domain-containing protein 4 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (c).
      Source sequence(s)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (6) summary
      smart00225
      Location:95 → 189
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:191 → 249
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:403 → 560
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:328 → 363
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:88 → 187
      BTB; BTB/POZ domain
      pfam07646
      Location:327 → 363
      Kelch_2; Kelch motif

    2. NM_001318717.2 → NP_001305646.1  kelch repeat and BTB domain-containing protein 4 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (6) summary
      smart00225
      Location:85 → 179
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:181 → 239
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:393 → 550
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:318 → 353
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:78 → 177
      BTB; BTB/POZ domain
      pfam07646
      Location:317 → 353
      Kelch_2; Kelch motif

    3. NM_001318718.2 → NP_001305647.1  kelch repeat and BTB domain-containing protein 4 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (e) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS81566.1
      UniProtKB/TrEMBL
      Q53HN0
      Related
      ENSP00000436713.1, ENST00000533290.5
      Conserved Domains (6) summary
      smart00225
      Location:71 → 165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:167 → 225
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:379 → 536
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:304 → 339
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:64 → 163
      BTB; BTB/POZ domain
      pfam07646
      Location:303 → 339
      Kelch_2; Kelch motif

    4. NM_001318719.2 → NP_001305648.1  kelch repeat and BTB domain-containing protein 4 isoform g

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (g) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (6) summary
      smart00225
      Location:71 → 165
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:167 → 225
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:379 → 536
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:304 → 339
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:64 → 163
      BTB; BTB/POZ domain
      pfam07646
      Location:303 → 339
      Kelch_2; Kelch motif

    5. NM_001318720.2 → NP_001305649.1  kelch repeat and BTB domain-containing protein 4 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC104942, KF459542
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (6) summary
      smart00225
      Location:69 → 163
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:165 → 223
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:377 → 534
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:302 → 337
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:62 → 161
      BTB; BTB/POZ domain
      pfam07646
      Location:301 → 337
      Kelch_2; Kelch motif

    6. NM_001318721.2 → NP_001305650.1  kelch repeat and BTB domain-containing protein 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    7. NM_001318722.2 → NP_001305651.1  kelch repeat and BTB domain-containing protein 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    8. NM_001318723.2 → NP_001305652.1  kelch repeat and BTB domain-containing protein 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    9. NM_001318724.2 → NP_001305653.1  kelch repeat and BTB domain-containing protein 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Related
      ENSP00000433340.1, ENST00000526005.5
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    10. NM_001318725.2 → NP_001305654.1  kelch repeat and BTB domain-containing protein 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    11. NM_016506.7 → NP_057590.3  kelch repeat and BTB domain-containing protein 4 isoform b

      See identical proteins and their annotated locations for NP_057590.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (b) is shorter at the N-terminus compared to isoform c. Variants 2, 7, 8, 10, 11, and 12 all encode the same isoform (b).
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS7940.1
      UniProtKB/TrEMBL
      Q53HN0
      Related
      ENSP00000378703.2, ENST00000395288.6
      Conserved Domains (4) summary
      cd14733
      Location:142 → 200
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      sd00038
      Location:279 → 314
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:35 → 138
      BTB; BTB/POZ domain
      cl28614
      Location:47 → 479
      BTB; Broad-Complex, Tramtrack and Bric a brac

    12. NM_018095.6 → NP_060565.4  kelch repeat and BTB domain-containing protein 4 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 4. The resulting isoform (a) has a shorter and distinct N-terminus compared to isoform c.
      Source sequence(s)
      AC104942, KF459542
      Consensus CDS
      CCDS44594.1
      UniProtKB/Swiss-Prot
      A0A075B6T4, B3KRH9, D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
      UniProtKB/TrEMBL
      Q53HN0
      Related
      ENSP00000415106.2, ENST00000430070.7
      Conserved Domains (6) summary
      smart00225
      Location:62 → 156
      BTB; Broad-Complex, Tramtrack and Bric a brac
      cd14733
      Location:158 → 216
      BACK_like; BTB-And-C-terminal-Kelch (BACK) domain and similar domains
      TIGR03548
      Location:370 → 527
      mutarot_permut; cyclically-permuted mutarotase family protein
      sd00038
      Location:295 → 330
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:55 → 154
      BTB; BTB/POZ domain
      pfam07646
      Location:294 → 330
      Kelch_2; Kelch 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47572197..47578970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p14 PATCHES

      Range
      23..6796 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47732619..47739392 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_024222.1: Suppressed sequence

      Description
      NR_024222.1: This RefSeq was removed because it is now thought that this transcript does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVX7.4 GenPept UniProtKB/Swiss-Prot:Q9NVX7

    Gene LinkOut

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

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