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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

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

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