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    TBC1D3K TBC1 domain family member 3K [ Homo sapiens (human) ]

    Gene ID: 101060351, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TBC1D3Kprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Kprovided by HGNC
    Primary source
    HGNC:HGNC:51245
    See related
    Ensembl:ENSG00000273513 AllianceGenome:HGNC:51245
    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
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 14.9), skin (RPKM 9.2) and 23 other tissues See more
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    Genomic context

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    See TBC1D3K in Genome Data Viewer
    Location:
    17q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37923536..37935371)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38965106..38977716, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36202981-36203480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36203816-36204316 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7 Neighboring gene RNA, U6 small nuclear 489, pseudogene Neighboring gene uncharacterized LOC102723608 Neighboring gene nitric oxide synthase 2, inducible pseudogene

    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. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
    2. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    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 (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 3K
    Names
    TBC1 domain family member-like

    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_001291464.2 → NP_001278393.1  TBC1 domain family member 3K

      See identical proteins and their annotated locations for NP_001278393.1

      Status: VALIDATED

      Source sequence(s)
      AC243569
      Consensus CDS
      CCDS74042.1
      UniProtKB/Swiss-Prot
      A0A087X1G2
      UniProtKB/TrEMBL
      B2R8D7
      Related
      ENSP00000484181.1, ENST00000620247.2
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      37923536..37935371
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524172.2 → XP_011522474.1  TBC1 domain family member 3K isoform X3

      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (2) summary
      PHA03381
      Location:395 → 507
      PHA03381; tegument protein VP22; Provisional
      smart00164
      Location:160 → 351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. XM_006722237.3 → XP_006722300.1  TBC1 domain family member 3K isoform X1

      See identical proteins and their annotated locations for XP_006722300.1

      UniProtKB/Swiss-Prot
      A0A087X1G2
      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_006722239.3 → XP_006722302.1  TBC1 domain family member 3K isoform X4

      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (1) summary
      smart00164
      Location:99 → 290
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. XM_011524174.2 → XP_011522476.1  TBC1 domain family member 3K isoform X5

      Conserved Domains (1) summary
      smart00164
      Location:160 → 361
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. XM_047435092.1 → XP_047291048.1  TBC1 domain family member 3K isoform X2

    6. XM_006722236.2 → XP_006722299.1  TBC1 domain family member 3K isoform X2

      See identical proteins and their annotated locations for XP_006722299.1

      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (1) summary
      smart00164
      Location:160 → 373
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38965106..38977716 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314652.1 → XP_054170627.1  TBC1 domain family member 3K isoform X7

    2. XM_054314653.1 → XP_054170628.1  TBC1 domain family member 3K isoform X8

    3. XM_054314655.1 → XP_054170630.1  TBC1 domain family member 3K isoform X9

    4. XM_054314654.1 → XP_054170629.1  TBC1 domain family member 3K isoform X1

    5. XM_054314650.1 → XP_054170625.1  TBC1 domain family member 3K isoform X6

    6. XM_054314651.1 → XP_054170626.1  TBC1 domain family member 3K isoform X6

    7. XM_054314656.1 → XP_054170631.1  TBC1 domain family member 3K isoform X10

    8. XM_054314657.1 → XP_054170632.1  TBC1 domain family member 3K isoform X11

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087X1G2.1 GenPept UniProtKB/Swiss-Prot:A0A087X1G2

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