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TBC1D3L TBC1 domain family member 3L [ Homo sapiens (human) ]

Gene ID: 101060376, updated on 2-Nov-2024

Summary

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Official Symbol
TBC1D3Lprovided by HGNC
Official Full Name
TBC1 domain family member 3Lprovided by HGNC
Primary source
HGNC:HGNC:51246
See related
Ensembl:ENSG00000274512 AllianceGenome:HGNC:51246
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 12.8), skin (RPKM 9.9) and 24 other tissues See more
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Genomic context

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See TBC1D3L in Genome Data Viewer
Location:
17q12
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (37978155..37989060, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36284005..36294915)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723608 Neighboring gene nitric oxide synthase 2, inducible pseudogene Neighboring gene TBC1 domain family member 3D Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:36339535-36340036 Neighboring gene uncharacterized LOC102723819

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. 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  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 (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

  • FLJ16441, FLJ38066

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 3L

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_001291459.2 → NP_001278388.1  TBC1 domain family member 3L isoform 2

    See identical proteins and their annotated locations for NP_001278388.1

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Consensus CDS
    CCDS74043.1
    UniProtKB/Swiss-Prot
    B9A6J9
    UniProtKB/TrEMBL
    A0A0G2JP35
    Related
    ENSP00000479577.1, ENST00000617678.2
    Conserved Domains (2) summary
    PHA03381
    Location:356 → 468
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. NM_001369499.1 → NP_001356428.1  TBC1 domain family member 3L isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC243569
    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (2) summary
    PHA03381
    Location:417 → 529
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. NM_001369500.1 → NP_001356429.1  TBC1 domain family member 3L isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC243569
    Consensus CDS
    CCDS74043.1
    UniProtKB/Swiss-Prot
    B9A6J9
    UniProtKB/TrEMBL
    A0A0G2JP35
    Related
    ENSP00000481508.1, ENST00000612727.5
    Conserved Domains (2) summary
    PHA03381
    Location:356 → 468
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99 → 312
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  4. NM_001369501.1 → NP_001356430.1  TBC1 domain family member 3L isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC243569
    UniProtKB/TrEMBL
    A0A0G2JP35, B3KTC5
    Conserved Domains (2) summary
    PHA03381
    Location:334 → 446
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:99 → 290
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_170630.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC243569

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
    37978155..37989060 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524175.3 → XP_011522477.1  TBC1 domain family member 3L isoform X1

    See identical proteins and their annotated locations for XP_011522477.1

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (2) summary
    PHA03381
    Location:417 → 529
    PHA03381; tegument protein VP22; Provisional
    smart00164
    Location:160 → 373
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  2. XM_006722243.3 → XP_006722306.1  TBC1 domain family member 3L isoform X2

    UniProtKB/TrEMBL
    A0A0G2JP35
    Conserved Domains (1) summary
    smart00164
    Location:160 → 351
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

  3. XM_006722247.3 → XP_006722310.1  TBC1 domain family member 3L isoform X3

    See identical proteins and their annotated locations for XP_006722310.1

    Conserved Domains (1) summary
    smart00164
    Location:160 → 361
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
B9A6J9.1 GenPept UniProtKB/Swiss-Prot:B9A6J9

Gene LinkOut

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Molecular Biology Databases
Research Materials