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    TBC1D3C TBC1 domain family member 3C [ Homo sapiens (human) ]

    Gene ID: 414060, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TBC1D3Cprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Cprovided by HGNC
    Primary source
    HGNC:HGNC:24889
    See related
    Ensembl:ENSG00000278299 MIM:610806; AllianceGenome:HGNC:24889
    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
    Also known as
    PRC17; TBC1D3; TBC1D3A; TBC1D3D
    Summary
    This gene represents one of a cluster of related genes found on chromosome 17. The proteins encoded by this gene family contain a TBC (Tre-2, Bub2p, and Cdc16p) domain and may be involved in GTPase signaling and vesicle trafficking. [provided by RefSeq, Apr 2014]
    Expression
    Broad expression in testis (RPKM 17.2), skin (RPKM 10.9) and 24 other tissues See more
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    Genomic context

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    See TBC1D3C in Genome Data Viewer
    Location:
    17q12
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38057693..38070301, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 3D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36339535-36340036 Neighboring gene uncharacterized LOC102723819 Neighboring gene puromycin-sensitive aminopeptidase-like protein Neighboring gene uncharacterized LOC102723851 Neighboring gene TBC1 domain family member 3E

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_000017.11 Chromosome 17 Reference GRCh38.p14 Primary Assembly

    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation. Luan Y, et al. Life Sci Alliance, 2025 Jan. PMID 39467635, Free PMC Article
    2. The Tre2 (USP6) oncogene is a hominoid-specific gene. Paulding CA, et al. Proc Natl Acad Sci U S A, 2003 Mar 4. PMID 12604796, Free PMC Article
    3. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
    4. Generation and analysis of 280,000 human expressed sequence tags. Hillier LD, et al. Genome Res, 1996 Sep. PMID 8889549
    5. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation.
      Title: Decoupling actin assembly from microtubule disassembly by TBC1D3C-mediated direct GEF-H1 activation.
    2. The Tre2 (USP6) oncogene is derived from the chimeric fusion of two genes, USP32 (NY-REN-60), and TBC1D3.
      Title: The Tre2 (USP6) oncogene is a hominoid-specific gene.
    Submit: New GeneRIF Correction

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ78248, FLJ93850, MGC44903, MGC87893, DKFZp434P2235

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator 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 3C
    Names
    Prostate cancer gene 17 protein
    Protein TRE17-alpha
    Rab GTPase-activating protein PRC17
    TBC1 domain family member 3
    TBC1 domain family member 3C-like protein ENSP00000341742
    TBC1 domain family member 3C/3D

    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_001001418.6 → NP_001001418.5  TBC1 domain family member 3C

      See identical proteins and their annotated locations for NP_001001418.5

      Status: REVIEWED

      Source sequence(s)
      AC233968
      Consensus CDS
      CCDS74045.1
      UniProtKB/Swiss-Prot
      A6NGX2, A8K007, Q6DCB4, Q6IPX1, Q8IZP1, Q9H0B9, Q9UDD4
      UniProtKB/TrEMBL
      B2R8D7
      Related
      ENSP00000482345.1, ENST00000622206.2
      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_2024_08

    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
      38057693..38070301 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436082.1 → XP_047292038.1  TBC1 domain family member 3C isoform X3

      UniProtKB/Swiss-Prot
      A6NGX2, A8K007, Q6DCB4, Q6IPX1, Q8IZP1, Q9H0B9, Q9UDD4
      UniProtKB/TrEMBL
      B2R8D7

    2. XM_011524814.3 → XP_011523116.1  TBC1 domain family member 3C isoform X1

      See identical proteins and their annotated locations for XP_011523116.1

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

    3. XM_006721907.4 → XP_006721970.1  TBC1 domain family member 3C 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_006721905.2 → XP_006721968.1  TBC1 domain family member 3C isoform X2

      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (1) summary
      smart00164
      Location:160 → 351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    5. XM_006721904.2 → XP_006721967.1  TBC1 domain family member 3C isoform X1

      See identical proteins and their annotated locations for XP_006721967.1

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

    6. XM_006721908.2 → XP_006721971.1  TBC1 domain family member 3C isoform X5

      See identical proteins and their annotated locations for XP_006721971.1

      Conserved Domains (1) summary
      smart00164
      Location:160 → 361
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6IPX1.3 GenPept UniProtKB/Swiss-Prot:Q6IPX1

    Gene LinkOut

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

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