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

Gene ID: 102724862, updated on 3-Apr-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 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
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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Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36253639..36264604, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37201561..37212491, complement)
105.20220307 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 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
  • 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
  
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 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_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
    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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