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KBTBD7 kelch repeat and BTB domain containing 7 [ Homo sapiens (human) ]

Gene ID: 84078, updated on 5-Mar-2024

Summary

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Official Symbol
KBTBD7provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 7provided by HGNC
Primary source
HGNC:HGNC:25266
See related
Ensembl:ENSG00000120696 MIM:617739; AllianceGenome:HGNC:25266
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 is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]
Orthologs
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Genomic context

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Location:
13q14.11
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (41189834..41194569, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (40408967..40413700, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (41763970..41768705, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene KBTBD6 divergent transcript Neighboring gene small nucleolar RNA U13 Neighboring gene calmodulin 2 pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41767447-41768154 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:41768155-41768861 Neighboring gene mortality factor 4 like 1 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5289 Neighboring gene mitochondrial translation release factor 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:41837130-41837630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5290 Neighboring gene Rac family small GTPase 1 pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. GABARAP proteins as scaffolds in localized TIAM1-RAC1 signaling. Genau HM, et al. Mol Cell Oncol, 2016 Jan. PMID 27308540, Free PMC Article
  2. KBTBD7, a novel human BTB-kelch protein, activates transcriptional activities of SRE and AP-1. Hu J, et al. BMB Rep, 2010 Jan. PMID 20132730
  3. KBTBD7 promotes non-small cell lung carcinoma progression by enhancing ubiquitin-dependent degradation of PTEN. Zou Z, et al. Cancer Med, 2022 Dec. PMID 35499228, Free PMC Article
  4. The KBTBD6/7-DRD2 axis regulates pituitary adenoma sensitivity to dopamine agonist treatment. Liu YT, et al. Acta Neuropathol, 2020 Sep. PMID 32572597
  5. Regulation of Wnt/PCP signaling through p97/VCP-KBTBD7-mediated Vangl ubiquitination and endoplasmic reticulum-associated degradation. Feng D, et al. Sci Adv, 2021 May. PMID 33990333, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. KBTBD7 promotes non-small cell lung carcinoma progression by enhancing ubiquitin-dependent degradation of PTEN.
    Title: KBTBD7 promotes non-small cell lung carcinoma progression by enhancing ubiquitin-dependent degradation of PTEN.
  2. KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex.
    Title: CUL3-KBTBD6/KBTBD7 ubiquitin ligase cooperates with GABARAP proteins to spatially restrict TIAM1-RAC1 signaling.
  3. KBTBD7 proteins may act as a new transcriptional activator in mitogen-activated protein kinase (MAPK) signaling.
    Title: KBTBD7, a novel human BTB-kelch protein, activates transcriptional activities of SRE and AP-1.
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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of kelch repeat and BTB (POZ) domain containing 7 (KBTBD7) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl 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

  • DKFZp434E2318

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein K48-linked ubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of Rac protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kelch repeat and BTB domain-containing protein 7
Names
kelch repeat and BTB (POZ) domain containing 7

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.

Genomic

  1. NG_053142.1 RefSeqGene

    Range
    5016..9751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032138.7 → NP_115514.2  kelch repeat and BTB domain-containing protein 7

    See identical proteins and their annotated locations for NP_115514.2

    Status: REVIEWED

    Source sequence(s)
    AI631319, AL354696, BC022033, BF436101, BU069965, BU070208, HY094395
    Consensus CDS
    CCDS9377.1
    UniProtKB/Swiss-Prot
    B5TZ86, Q5T6Y7, Q8NB99, Q8WVZ9, Q9H0I6
    UniProtKB/TrEMBL
    B2RDL4
    Related
    ENSP00000368797.3, ENST00000379483.4
    Conserved Domains (4) summary
    PHA03098
    Location:55 → 544
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:384 → 421
    Kelch; KELCH repeat [structural motif]
    cd18273
    Location:37 → 178
    BTB_POZ_KBTBD6_7; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in Kelch repeat and BTB domain-containing proteins KBTBD6 and KBTBD7
    cd18482
    Location:168 → 270
    BACK_KBTBD6_7; BACK (BTB and C-terminal Kelch) domain found in Kelch repeat and BTB domain-containing proteins, KBTBD6 and KBTBD7

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    41189834..41194569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    40408967..40413700 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8WVZ9.1 GenPept UniProtKB/Swiss-Prot:Q8WVZ9

Gene LinkOut

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