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    TBC1D3E TBC1 domain family member 3E [ Homo sapiens (human) ]

    Gene ID: 102723859, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TBC1D3Eprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Eprovided by HGNC
    Primary source
    HGNC:HGNC:27071
    See related
    Ensembl:ENSG00000278599 MIM:610808; AllianceGenome:HGNC:27071
    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; TBC1DE3
    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
    Ubiquitous expression in testis (RPKM 27.0), skin (RPKM 18.1) and 25 other tissues See more
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    Genomic context

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    See TBC1D3E in Genome Data Viewer
    Location:
    17q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (38124106..38138868)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38911265..38922351)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 3C Neighboring gene puromycin-sensitive aminopeptidase-like protein Neighboring gene uncharacterized LOC102723851 Neighboring gene RNA, 5S ribosomal pseudogene 526 Neighboring gene uncharacterized LOC102723933

    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. Diversity of human copy number variation and multicopy genes. Sudmant PH, et al. Science, 2010 Oct 29. PMID 21030649, Free PMC Article
    2. TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. Hodzic D, et al. Genomics, 2006 Dec. PMID 16863688
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Zody MC, et al. Nature, 2006 Apr 20. PMID 16625196, 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

    General gene information

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    Homology

    Clone Names

    • DKFZp434P2235

    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 3E
    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_001291466.2 → NP_001278395.1  TBC1 domain family member 3E

      See identical proteins and their annotated locations for NP_001278395.1

      Status: VALIDATED

      Source sequence(s)
      AC233968
      Consensus CDS
      CCDS77009.1
      UniProtKB/Swiss-Prot
      A0A087X179
      UniProtKB/TrEMBL
      B2R8D7
      Related
      ENSP00000483965.1, ENST00000621587.2
      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
      38124106..38138868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722254.3 → XP_006722317.1  TBC1 domain family member 3E isoform X1

      See identical proteins and their annotated locations for XP_006722317.1

      UniProtKB/Swiss-Prot
      A0A087X179
      UniProtKB/TrEMBL
      B2R8D7
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      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
      2162943..2173980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329217.1 → XP_054185192.1  TBC1 domain family member 3E isoform X3

      UniProtKB/TrEMBL
      A0A0G2JP35

    2. XM_054329220.1 → XP_054185195.1  TBC1 domain family member 3E isoform X5

    3. XM_054329214.1 → XP_054185189.1  TBC1 domain family member 3E isoform X2

      UniProtKB/TrEMBL
      A0A0G2JP35

    4. XM_054329219.1 → XP_054185194.1  TBC1 domain family member 3E isoform X4

      UniProtKB/TrEMBL
      A0A0G2JP35

    5. XM_054329218.1 → XP_054185193.1  TBC1 domain family member 3E isoform X1

      UniProtKB/TrEMBL
      A0A0G2JP35, A0A0G2JPY0

    6. XM_054329216.1 → XP_054185191.1  TBC1 domain family member 3E isoform X2

      UniProtKB/TrEMBL
      A0A0G2JP35

    7. XM_054329215.1 → XP_054185190.1  TBC1 domain family member 3E isoform X2

      UniProtKB/TrEMBL
      A0A0G2JP35

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      38911265..38922351
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314676.1 → XP_054170651.1  TBC1 domain family member 3E isoform X7

      UniProtKB/TrEMBL
      B2R8D7

    2. XM_054314677.1 → XP_054170652.1  TBC1 domain family member 3E isoform X8

      UniProtKB/TrEMBL
      A0A0G2JP35, B2R8D7

    3. XM_054314679.1 → XP_054170654.1  TBC1 domain family member 3E isoform X10

    4. XM_054314678.1 → XP_054170653.1  TBC1 domain family member 3E isoform X9

      UniProtKB/TrEMBL
      B2R8D7

    5. XM_054314675.1 → XP_054170650.1  TBC1 domain family member 3E isoform X6

      UniProtKB/TrEMBL
      B2R8D7

    6. XM_054314674.1 → XP_054170649.1  TBC1 domain family member 3E isoform X6

      UniProtKB/TrEMBL
      B2R8D7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A087X179.1 GenPept UniProtKB/Swiss-Prot:A0A087X179

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