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    TBC1D3I TBC1 domain family member 3I [ Homo sapiens (human) ]

    Gene ID: 102724862, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBC1D3Iprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Iprovided by HGNC
    Primary source
    HGNC:HGNC:32709
    See related
    Ensembl:ENSG00000274933 AllianceGenome:HGNC:32709
    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
    PRC17; TBC1D3; TBC1D3A
    Summary
    Predicted to enable GTPase activator activity. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 16.9), skin (RPKM 10.5) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    See TBC1D3I 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 (36253639..36264604, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37201561..37212491, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 (PATCHES) NW_003315949.1 (138395..149326, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 4 like 2 Neighboring gene uncharacterized LOC105371747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34591003-34591504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:34591505-34592004 Neighboring gene uncharacterized LOC102724956 Neighboring gene puromycin-sensitive aminopeptidase-like protein Neighboring gene TBC1 domain family member 3G

    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 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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. 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 (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Homology

    Clone Names

    • MGC87893

    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 3I
    Names
    Prostate cancer gene 17 protein
    Protein TRE17-alpha
    Rab GTPase-activating protein PRC17
    TBC1 domain family member 3
    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_001291463.2 → NP_001278392.1  TBC1 domain family member 3I

      See identical proteins and their annotated locations for NP_001278392.1

      Status: VALIDATED

      Source sequence(s)
      AC243829
      Consensus CDS
      CCDS74039.1
      UniProtKB/Swiss-Prot
      A0A087WXS9
      UniProtKB/TrEMBL
      A0A0G2JP35
      Related
      ENSP00000481258.1, ENST00000621034.2
      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
      36253639..36264604 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722226.4 → XP_006722289.1  TBC1 domain family member 3I isoform X4

      See identical proteins and their annotated locations for XP_006722289.1

      UniProtKB/TrEMBL
      A0A0G2JP35
      Conserved Domains (1) summary
      smart00164
      Location:99 → 290
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. XM_006722224.4 → XP_006722287.1  TBC1 domain family member 3I isoform X3

      See identical proteins and their annotated locations for XP_006722287.1

      UniProtKB/Swiss-Prot
      A0A087WXS9
      UniProtKB/TrEMBL
      A0A0G2JP35
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_011524183.3 → XP_011522485.1  TBC1 domain family member 3I isoform X2

      See identical proteins and their annotated locations for XP_011522485.1

      UniProtKB/TrEMBL
      A0A0G2JP35
      Conserved Domains (1) summary
      smart00164
      Location:160 → 351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. XM_047435104.1 → XP_047291060.1  TBC1 domain family member 3I isoform X1

    5. XM_006722223.4 → XP_006722286.1  TBC1 domain family member 3I isoform X1

      See identical proteins and their annotated locations for XP_006722286.1

      UniProtKB/TrEMBL
      A0A0G2JP35
      Conserved Domains (1) summary
      smart00164
      Location:160 → 373
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    6. XM_047435105.1 → XP_047291061.1  TBC1 domain family member 3I isoform X1

    7. XM_011524185.3 → XP_011522487.1  TBC1 domain family member 3I isoform X5

      See identical proteins and their annotated locations for XP_011522487.1

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

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      488543..499508 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329226.1 → XP_054185201.1  TBC1 domain family member 3I isoform X4

    2. XM_054329225.1 → XP_054185200.1  TBC1 domain family member 3I isoform X3

      UniProtKB/Swiss-Prot
      A0A087WXS9

    3. XM_054329224.1 → XP_054185199.1  TBC1 domain family member 3I isoform X2

    4. XM_054329221.1 → XP_054185196.1  TBC1 domain family member 3I isoform X1

    5. XM_054329222.1 → XP_054185197.1  TBC1 domain family member 3I isoform X1

    6. XM_054329223.1 → XP_054185198.1  TBC1 domain family member 3I isoform X1

    7. XM_054329227.1 → XP_054185202.1  TBC1 domain family member 3I isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187661.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      309382..320347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330082.1 → XP_054186057.1  TBC1 domain family member 3I isoform X4

    2. XM_054330081.1 → XP_054186056.1  TBC1 domain family member 3I isoform X3

      UniProtKB/Swiss-Prot
      A0A087WXS9

    3. XM_054330080.1 → XP_054186055.1  TBC1 domain family member 3I isoform X2

    4. XM_054330077.1 → XP_054186052.1  TBC1 domain family member 3I isoform X1

    5. XM_054330078.1 → XP_054186053.1  TBC1 domain family member 3I isoform X1

    6. XM_054330079.1 → XP_054186054.1  TBC1 domain family member 3I isoform X1

    7. XM_054330083.1 → XP_054186058.1  TBC1 domain family member 3I isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      37201561..37212491 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087WXS9.1 GenPept UniProtKB/Swiss-Prot:A0A087WXS9

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