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TBC1D3G TBC1 domain family member 3G [ Homo sapiens (human) ]

Gene ID: 101060321, updated on 3-Apr-2024

Summary

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Official Symbol
TBC1D3Gprovided by HGNC
Official Full Name
TBC1 domain family member 3Gprovided by HGNC
Primary source
HGNC:HGNC:29860
See related
Ensembl:ENSG00000260287 MIM:610810; AllianceGenome:HGNC:29860
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
TBC1D3C; TBC1D3D
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 17.3), skin (RPKM 10.0) and 23 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 (36315397..36334759)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37267961..37282718)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36337711..36348609, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724956 Neighboring gene TBC1 domain family member 3I Neighboring gene puromycin-sensitive aminopeptidase-like protein Neighboring gene uncharacterized LOC102723414 Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene TBC1 domain family member 3H

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. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. Maruyama K, et al. Gene, 1994 Jan 28. PMID 8125298
  5. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article

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)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ60933, FLJ78248, MGC87891

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 3G
Names
TBC1 domain family member 3C
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_001291462.2 → NP_001278391.1  TBC1 domain family member 3G

    See identical proteins and their annotated locations for NP_001278391.1

    Status: VALIDATED

    Source sequence(s)
    BC071680
    Consensus CDS
    CCDS74040.1
    UniProtKB/Swiss-Prot
    A8K8H9, Q6DHY5
    UniProtKB/TrEMBL
    A0A0G2JLM6
    Related
    ENSP00000456861.1, ENST00000569055.2
    Conserved Domains (2) summary
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cl27109
    Location:356 → 468
    Herpes_UL49_2; Herpesvirus UL49 tegument protein

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
    36315397..36334759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435086.1 → XP_047291042.1  TBC1 domain family member 3G isoform X1

  2. XM_005276914.4 → XP_005276971.1  TBC1 domain family member 3G isoform X1

    See identical proteins and their annotated locations for XP_005276971.1

    UniProtKB/TrEMBL
    A0A0G2JLM6
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_047435090.1 → XP_047291046.1  TBC1 domain family member 3G isoform X3

    UniProtKB/Swiss-Prot
    A8K8H9, Q6DHY5

  4. XM_047435085.1 → XP_047291041.1  TBC1 domain family member 3G isoform X1

  5. XM_047435088.1 → XP_047291044.1  TBC1 domain family member 3G isoform X2

  6. XM_047435087.1 → XP_047291043.1  TBC1 domain family member 3G isoform X4

  7. XM_047435089.1 → XP_047291045.1  TBC1 domain family member 3G isoform X3

    UniProtKB/Swiss-Prot
    A8K8H9, Q6DHY5

  8. XM_047435091.1 → XP_047291047.1  TBC1 domain family member 3G isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187614.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    550301..569663
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329208.1 → XP_054185183.1  TBC1 domain family member 3G isoform X1

  2. XM_054329207.1 → XP_054185182.1  TBC1 domain family member 3G isoform X1

  3. XM_054329212.1 → XP_054185187.1  TBC1 domain family member 3G isoform X3

    UniProtKB/Swiss-Prot
    A8K8H9, Q6DHY5

  4. XM_054329206.1 → XP_054185181.1  TBC1 domain family member 3G isoform X1

  5. XM_054329210.1 → XP_054185185.1  TBC1 domain family member 3G isoform X2

  6. XM_054329209.1 → XP_054185184.1  TBC1 domain family member 3G isoform X4

  7. XM_054329211.1 → XP_054185186.1  TBC1 domain family member 3G isoform X3

    UniProtKB/Swiss-Prot
    A8K8H9, Q6DHY5

  8. XM_054329213.1 → XP_054185188.1  TBC1 domain family member 3G isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187661.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    207820..218774 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330075.1 → XP_054186050.1  TBC1 domain family member 3G isoform X7

  2. XM_054330074.1 → XP_054186049.1  TBC1 domain family member 3G isoform X6

  3. XM_054330076.1 → XP_054186051.1  TBC1 domain family member 3G isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    37267961..37282718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314646.1 → XP_054170621.1  TBC1 domain family member 3G isoform X1

  2. XM_054314648.1 → XP_054170623.1  TBC1 domain family member 3G isoform X2

  3. XM_054314649.1 → XP_054170624.1  TBC1 domain family member 3G isoform X3

  4. XM_054314647.1 → XP_054170622.1  TBC1 domain family member 3G isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6DHY5.2 GenPept UniProtKB/Swiss-Prot:Q6DHY5

Gene LinkOut

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

Chemical Information
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