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

Gene ID: 729877, updated on 5-Aug-2022

Summary

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

See TBC1D3H in Genome Data Viewer
Location:
17q12
Exon count:
14
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (36377531..36388453, complement)
110 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

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001123392.4NP_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
    A8MZ78, P0C7X1
    Related
    ENSP00000482630.1, ENST00000610350.4
    Conserved Domains (1) summary
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_006722056.3XP_006722119.1  TBC1 domain family member 3H isoform X4

    See identical proteins and their annotated locations for XP_006722119.1

    Conserved Domains (1) summary
    smart00164
    Location:99290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_006722055.3XP_006722118.1  TBC1 domain family member 3H isoform X3

    See identical proteins and their annotated locations for XP_006722118.1

    UniProtKB/Swiss-Prot
    A8MZ78, P0C7X1
    Conserved Domains (1) summary
    smart00164
    Location:99312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_011525174.3XP_011523476.1  TBC1 domain family member 3H isoform X2

    See identical proteins and their annotated locations for XP_011523476.1

    Conserved Domains (1) summary
    smart00164
    Location:160351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_011525172.3XP_011523474.1  TBC1 domain family member 3H isoform X1

    See identical proteins and their annotated locations for XP_011523474.1

    Conserved Domains (1) summary
    smart00164
    Location:160373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. XM_011525173.3XP_011523475.1  TBC1 domain family member 3H isoform X1

    See identical proteins and their annotated locations for XP_011523475.1

    Conserved Domains (1) summary
    smart00164
    Location:160373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_047436636.1XP_047292592.1  TBC1 domain family member 3H isoform X1

  7. XM_011525176.3XP_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:160361
    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..623339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

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