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    TBC1D3H TBC1 domain family member 3H [ Homo sapiens (human) ]

    Gene ID: 729877, updated on 3-Apr-2024

    Summary

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    Official Symbol
    TBC1D3Hprovided by HGNC
    Official Full Name
    TBC1 domain family member 3Hprovided by HGNC
    Primary source
    HGNC:HGNC:30708
    See related
    Ensembl:ENSG00000274226 MIM:610811; AllianceGenome:HGNC:30708
    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
    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 20.7), skin (RPKM 11.7) and 24 other tissues See more
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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 (36377531..36388453, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37325493..37336401, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (34746119..34757005, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 3G Neighboring gene uncharacterized LOC102723414 Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene RNA, U6 small nuclear 1192, pseudogene Neighboring gene TBC1 domain family member 3F

    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. 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
    3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. Wang AG, et al. Biochem Biophys Res Commun, 2006 Jul 7. PMID 16712791
    4. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. Dias Neto E, et al. Proc Natl Acad Sci U S A, 2000 Mar 28. PMID 10737800, Free PMC Article
    5. Transcriptome analysis of human gastric cancer. Oh JH, et al. Mamm Genome, 2005 Dec. PMID 16341674

    See all (7) 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

    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 3H
    Names
    TBC1 domain family member 3-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_001123392.4 → NP_001116864.3  TBC1 domain family member 3H

      See identical proteins and their annotated locations for NP_001116864.3

      Status: VALIDATED

      Source sequence(s)
      AC233698
      Consensus CDS
      CCDS45653.1
      UniProtKB/Swiss-Prot
      A6NH17, A8MZ78, P0C7X1
      UniProtKB/TrEMBL
      A0A0G2JLM6
      Related
      ENSP00000482630.1, ENST00000610350.4
      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
      36377531..36388453 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722056.3 → XP_006722119.1  TBC1 domain family member 3H isoform X4

      See identical proteins and their annotated locations for XP_006722119.1

      UniProtKB/TrEMBL
      A0A0G2JLM6
      Conserved Domains (1) summary
      smart00164
      Location:99 → 290
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    2. XM_006722055.3 → XP_006722118.1  TBC1 domain family member 3H isoform X3

      See identical proteins and their annotated locations for XP_006722118.1

      UniProtKB/Swiss-Prot
      A6NH17, A8MZ78, P0C7X1
      UniProtKB/TrEMBL
      A0A0G2JLM6
      Conserved Domains (1) summary
      smart00164
      Location:99 → 312
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    3. XM_011525174.3 → XP_011523476.1  TBC1 domain family member 3H isoform X2

      See identical proteins and their annotated locations for XP_011523476.1

      UniProtKB/TrEMBL
      A0A0G2JLM6
      Conserved Domains (1) summary
      smart00164
      Location:160 → 351
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

    4. XM_011525172.3 → XP_011523474.1  TBC1 domain family member 3H isoform X1

      See identical proteins and their annotated locations for XP_011523474.1

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

    5. XM_011525173.3 → XP_011523475.1  TBC1 domain family member 3H isoform X1

      See identical proteins and their annotated locations for XP_011523475.1

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

    6. XM_047436636.1 → XP_047292592.1  TBC1 domain family member 3H isoform X1

    7. XM_011525176.3 → XP_011523478.1  TBC1 domain family member 3H isoform X5

      See identical proteins and their annotated locations for XP_011523478.1

      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
      612435..623357 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329329.1 → XP_054185304.1  TBC1 domain family member 3H isoform X4

    2. XM_054329328.1 → XP_054185303.1  TBC1 domain family member 3H isoform X3

      UniProtKB/Swiss-Prot
      A6NH17, A8MZ78, P0C7X1

    3. XM_054329327.1 → XP_054185302.1  TBC1 domain family member 3H isoform X2

    4. XM_054329324.1 → XP_054185299.1  TBC1 domain family member 3H isoform X1

    5. XM_054329326.1 → XP_054185301.1  TBC1 domain family member 3H isoform X1

    6. XM_054329325.1 → XP_054185300.1  TBC1 domain family member 3H isoform X1

    7. XM_054329330.1 → XP_054185305.1  TBC1 domain family member 3H isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      37325493..37336401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317043.1 → XP_054173018.1  TBC1 domain family member 3H isoform X6

    2. XM_054317042.1 → XP_054173017.1  TBC1 domain family member 3H isoform X1

    3. XM_054317044.1 → XP_054173019.1  TBC1 domain family member 3H isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7X1.3 GenPept UniProtKB/Swiss-Prot:P0C7X1

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