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

Gene ID: 55709, updated on 5-Mar-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
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Genomic context

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Location:
11p11.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47572197..47578970, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47732619..47739392, complement)
105.20220307 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 (23) 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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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)

Genotypes

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

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
    B3KRH9
    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
    A0A075B6T4, B3KRH9
    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
    B3KRH9
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/Swiss-Prot
    D3DQS1, D3DQS2, Q6IA85, Q9BUC3, Q9NV76, Q9NVX7
    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/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_2023_10

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
Q9NVX7.3 GenPept UniProtKB/Swiss-Prot:Q9NVX7

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