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

Gene ID: 729877, updated on 2-Nov-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 located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
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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See TBC1D3H in Genome Data Viewer
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36377531..36388453, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (37325493..37336401, complement)
RS_2024_09 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 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)

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
  
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_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
    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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