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

    Gene ID: 101060321, updated on 27-Nov-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 located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See TBC1D3G in Genome Data Viewer
    Location:
    17q12
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36315397..36334759)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37267961..37282718)
    RS_2024_09 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)

    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 
    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_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
      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

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