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    TBC1D3D TBC1 domain family member 3D [ Homo sapiens (human) ]

    Gene ID: 101060389, updated on 2-Nov-2024

    Summary

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    Official Symbol
    TBC1D3Dprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Dprovided by HGNC
    Primary source
    HGNC:HGNC:28944
    See related
    Ensembl:ENSG00000274419 MIM:610807; AllianceGenome:HGNC:28944
    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; TBC1D3H
    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 15.4), skin (RPKM 9.8) and 24 other tissues See more
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    Genomic context

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    See TBC1D3D in Genome Data Viewer
    Location:
    17q12
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38002322..38014908)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38989319..39001929)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34581085..34592039, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene TBC1 domain family member 3L Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36339535-36340036 Neighboring gene uncharacterized LOC102723819 Neighboring gene TBC1 domain family member 3C

    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. PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. Pei L, et al. Cancer Res, 2002 Oct 1. PMID 12359748
    2. Identification of novel sequences in the repertoire of hypervariable TRE17 genes from immortalized nonmalignant and malignant human keratinocytes. Onno M, et al. Gene, 1993 Sep 15. PMID 8406013
    3. 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
    4. Human TRE17 oncogene is generated from a family of homologous polymorphic sequences by single-base changes. Onno M, et al. DNA Cell Biol, 1993 Mar. PMID 8471161
    5. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688

    See all (10) citations in PubMed

    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)

    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
    		  
    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 3D
    Names
    Prostate cancer gene 17 protein
    Rab GTPase-activating protein PRC17
    TBC1 domain family member 3
    TBC1 domain family, member 3H
    TRE17 alpha protein

    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_001291465.2 → NP_001278394.1  TBC1 domain family member 3D

      See identical proteins and their annotated locations for NP_001278394.1

      Status: VALIDATED

      Source sequence(s)
      AC233968
      Consensus CDS
      CCDS74044.1
      UniProtKB/Swiss-Prot
      A0A087WVF3
      UniProtKB/TrEMBL
      A0A0G2JP35
      Related
      ENSP00000478426.1, ENST00000616101.5
      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
      38002322..38014908
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435093.1 → XP_047291049.1  TBC1 domain family member 3D isoform X3

      UniProtKB/Swiss-Prot
      A0A087WVF3

    2. XM_011524176.3 → XP_011522478.1  TBC1 domain family member 3D isoform X1

      See identical proteins and their annotated locations for XP_011522478.1

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

    3. XM_006722248.2 → XP_006722311.1  TBC1 domain family member 3D isoform X1

      See identical proteins and their annotated locations for XP_006722311.1

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

    4. XM_006722249.2 → XP_006722312.1  TBC1 domain family member 3D isoform X2

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

    5. XM_006722252.4 → XP_006722315.1  TBC1 domain family member 3D isoform X4

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

    6. XM_006722253.2 → XP_006722316.1  TBC1 domain family member 3D isoform X5

      See identical proteins and their annotated locations for XP_006722316.1

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

    7. XM_017024010.3 → XP_016879499.1  TBC1 domain family member 3D isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38989319..39001929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314661.1 → XP_054170636.1  TBC1 domain family member 3D isoform X7

    2. XM_054314660.1 → XP_054170635.1  TBC1 domain family member 3D isoform X2

    3. XM_054314664.1 → XP_054170639.1  TBC1 domain family member 3D isoform X5

    4. XM_054314663.1 → XP_054170638.1  TBC1 domain family member 3D isoform X4

    5. XM_054314662.1 → XP_054170637.1  TBC1 domain family member 3D isoform X3

      UniProtKB/Swiss-Prot
      A0A087WVF3

    6. XM_054314659.1 → XP_054170634.1  TBC1 domain family member 3D isoform X1

    7. XM_054314658.1 → XP_054170633.1  TBC1 domain family member 3D isoform X1

    8. XM_054314665.1 → XP_054170640.1  TBC1 domain family member 3D isoform X8

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001123390.1: Suppressed sequence

      Description
      NM_001123390.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087WVF3.1 GenPept UniProtKB/Swiss-Prot:A0A087WVF3

    Gene LinkOut

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

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