U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    KBTBD8 kelch repeat and BTB domain containing 8 [ Homo sapiens (human) ]

    Gene ID: 84541, updated on 5-Mar-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    KBTBD8provided by HGNC
    Official Full Name
    kelch repeat and BTB domain containing 8provided by HGNC
    Primary source
    HGNC:HGNC:30691
    See related
    Ensembl:ENSG00000163376 MIM:616607; AllianceGenome:HGNC:30691
    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
    TAKRP; TA-KRP
    Summary
    Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in lymph node (RPKM 10.1), testis (RPKM 4.7) and 14 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    3p14.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (66998307..67011210)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (67043303..67056206)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (67048731..67061634)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377143 Neighboring gene uncharacterized LOC105377144 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66848705-66849255 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:66893104-66893642 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:66893643-66894179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:67038375-67039124 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:67039125-67039874 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:67039875-67040624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14510 Neighboring gene uncharacterized LOC124909391 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:67133372-67134571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14511 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:67177475-67177976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:67192469-67192970 Neighboring gene uncharacterized LOC124909392

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression. Du L, et al. Mol Med, 2020 Oct 27. PMID 33109073, Free PMC Article
    2. Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions. Werner A, et al. Elife, 2018 Jul 12. PMID 29999490, Free PMC Article
    3. Dimerization quality control ensures neuronal development and survival. Mena EL, et al. Science, 2018 Oct 12. PMID 30190310
    4. Cell-fate determination by ubiquitin-dependent regulation of translation. Werner A, et al. Nature, 2015 Sep 24. PMID 26399832, Free PMC Article
    5. Identification of 15 loci influencing height in a Korean population. Kim JJ, et al. J Hum Genet, 2010 Jan. PMID 19893584

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ57592, KIAA1842

    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 neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neural crest formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein monoubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    kelch repeat and BTB domain-containing protein 8
    Names
    T-cell activation kelch repeat protein
    kelch repeat and BTB (POZ) domain containing 8

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_032505.3 → NP_115894.2  kelch repeat and BTB domain-containing protein 8

      See identical proteins and their annotated locations for NP_115894.2

      Status: VALIDATED

      Source sequence(s)
      AF385438, AK096640, DA246470, DB065239
      Consensus CDS
      CCDS2906.2
      UniProtKB/Swiss-Prot
      B4DTW6, Q8NFY9, Q96JI5
      Related
      ENSP00000401878.2, ENST00000417314.2
      Conserved Domains (6) summary
      smart00612
      Location:337 → 388
      Kelch; Kelch domain
      PHA03098
      Location:50 → 516
      PHA03098; kelch-like protein; Provisional
      sd00038
      Location:330 → 376
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:39 → 144
      BTB; BTB/POZ domain
      pfam01344
      Location:379 → 428
      Kelch_1; Kelch motif
      pfam07707
      Location:153 → 250
      BACK; BTB And C-terminal Kelch

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      66998307..67011210
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264771.4 → XP_005264828.1  kelch repeat and BTB domain-containing protein 8 isoform X1

      Conserved Domains (5) summary
      smart00612
      Location:260 → 311
      Kelch; Kelch domain
      sd00038
      Location:253 → 299
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:1 → 67
      BTB; BTB/POZ domain
      pfam01344
      Location:302 → 351
      Kelch_1; Kelch motif
      pfam07707
      Location:76 → 173
      BACK; BTB And C-terminal Kelch

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      67043303..67056206
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348093.1 → XP_054204068.1  kelch repeat and BTB domain-containing protein 8 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NFY9.2 GenPept UniProtKB/Swiss-Prot:Q8NFY9

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous