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TBC1D3K TBC1 domain family member 3K [ Homo sapiens (human) ]

Gene ID: 101060351, updated on 27-Nov-2024

Summary

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Official Symbol
TBC1D3Kprovided by HGNC
Official Full Name
TBC1 domain family member 3Kprovided by HGNC
Primary source
HGNC:HGNC:51245
See related
Ensembl:ENSG00000273513 AllianceGenome:HGNC:51245
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 14.9), skin (RPKM 9.2) and 23 other tissues See more
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Genomic context

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See TBC1D3K 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 (37923536..37935371)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (38965106..38977716, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36202981-36203480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36203816-36204316 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon pseudogene 7 Neighboring gene RNA, U6 small nuclear 489, pseudogene Neighboring gene uncharacterized LOC102723608 Neighboring gene nitric oxide synthase 2, inducible pseudogene

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. 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
  3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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 (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 3K
Names
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_001291464.2 → NP_001278393.1  TBC1 domain family member 3K

    See identical proteins and their annotated locations for NP_001278393.1

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Consensus CDS
    CCDS74042.1
    UniProtKB/Swiss-Prot
    A0A087X1G2
    UniProtKB/TrEMBL
    B2R8D7
    Related
    ENSP00000484181.1, ENST00000620247.2
    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
    37923536..37935371
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524172.2 → XP_011522474.1  TBC1 domain family member 3K isoform X3

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (2) summary
    PHA03381
    Location:395 → 507
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:160 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. XM_006722237.3 → XP_006722300.1  TBC1 domain family member 3K isoform X1

    See identical proteins and their annotated locations for XP_006722300.1

    UniProtKB/Swiss-Prot
    A0A087X1G2
    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_006722239.3 → XP_006722302.1  TBC1 domain family member 3K isoform X4

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:99 → 290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. XM_011524174.2 → XP_011522476.1  TBC1 domain family member 3K isoform X5

    Conserved Domains (1) summary
    smart00164
    Location:160 → 361
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  5. XM_047435092.1 → XP_047291048.1  TBC1 domain family member 3K isoform X2

  6. XM_006722236.2 → XP_006722299.1  TBC1 domain family member 3K isoform X2

    See identical proteins and their annotated locations for XP_006722299.1

    UniProtKB/TrEMBL
    B2R8D7
    Conserved Domains (1) summary
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    38965106..38977716 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054314652.1 → XP_054170627.1  TBC1 domain family member 3K isoform X7

  2. XM_054314653.1 → XP_054170628.1  TBC1 domain family member 3K isoform X8

  3. XM_054314655.1 → XP_054170630.1  TBC1 domain family member 3K isoform X9

  4. XM_054314654.1 → XP_054170629.1  TBC1 domain family member 3K isoform X1

  5. XM_054314650.1 → XP_054170625.1  TBC1 domain family member 3K isoform X6

  6. XM_054314651.1 → XP_054170626.1  TBC1 domain family member 3K isoform X6

  7. XM_054314656.1 → XP_054170631.1  TBC1 domain family member 3K isoform X10

  8. XM_054314657.1 → XP_054170632.1  TBC1 domain family member 3K isoform X11

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A087X1G2.1 GenPept UniProtKB/Swiss-Prot:A0A087X1G2

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