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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)

    Genotypes

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Research Materials