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

Gene ID: 102723859, updated on 3-Apr-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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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

  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

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

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

    UniProtKB/TrEMBL
    A0A0G2JPY0

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

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

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

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

  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

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

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

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

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