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    TBC1D15 TBC1 domain family, member 15 [ Homo sapiens ]

    Gene ID: 64786, updated on 11-May-2012
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    Summary

    Official Symbol
    TBC1D15provided by HGNC
    Official Full Name
    TBC1 domain family, member 15provided by HGNC
    Primary source
    HGNC:25694
    See related
    Ensembl:ENSG00000121749; HPRD:15470; MIM:612662; Vega:OTTHUMG00000158553
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RAB7-GAP; FLJ12085; FLJ33191; DKFZp686M1379; DKFZp761D0223
    Summary
    This gene encodes a member of the Ras-like proteins in brain-GTPase activating protein superfamily that share a conserved Tre-2/Bub2/Cdc16 domain. The encoded protein interacts with Ras-like protein in brain 5A and may function as a regulator of intracellular trafficking. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]
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    Genomic context

    Location :
    12q21.1
    Sequence :
    Chromosome: 12; NC_000012.11 (72233487..72320629)
    See TBC1D15 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100507345 Neighboring gene RAB21, member RAS oncogene family Neighboring gene MRS2 magnesium homeostasis factor homolog (S. cerevisiae) pseudogene 2 Neighboring gene tryptophan hydroxylase 2 Neighboring gene uncharacterized LOC283392 Neighboring gene thyrotropin-releasing hormone degrading enzyme

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636.

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. although only TBC1D15/Rab7-GAP altered Rab7-GTP levels, both Rab7-GAP and mVps39 regulate lysosomal morphology and play a role in maintaining growth factor dependence
      Title: Differential effects of TBC1D15 and mammalian Vps39 on Rab7 activation state, lysosomal morphology, and growth factor dependence.
    2. This paper primarily describes mouse TBC1D15 but also reports the primary structure of human TBC1D15.
      Title: TBC domain family, member 15 is a novel mammalian Rab GTPase-activating protein with substrate preference for Rab7.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:122296 BioGRID:116465 GABARAP    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122296 BioGRID:121122 MEPCE    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122296 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122296 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Rab GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    Process Evidence Code Pubs
    positive regulation of Rab GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    regulation of Rab GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    intracellular IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    TBC1 domain family member 15
    Names
    TBC1 domain family member 15
    GAP for RAB7
    GTPase-activating protein RAB7
    Tre2/Bub2/Cdc16 domain family member 15
    Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15
    NP_001139685.2
    NP_001139686.1
    NP_073608.4
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    NCBI Reference Sequences (RefSeq)

    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_001146213.1 → NP_001139685.2  TBC1 domain family member 15 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC090109, AI590346, AK225747, DA438409
      Consensus CDS
      CCDS53814.1
      UniProtKB/Swiss-Prot
      Q8TC07
      Related
      ENSP00000420678, OTTHUMP00000213053, ENST00000485960, OTTHUMT00000351267
      Conserved Domains (2) summary
      pfam12068
      Location:8 – 224
      Blast Score: 720
      DUF3548; Domain of unknown function (DUF3548)
      cl02495
      Location:326 – 561
      Blast Score: 421
      RabGAP-TBC; Rab-GTPase-TBC domain

    2. NM_001146214.1 → NP_001139686.1  TBC1 domain family member 15 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate in-frame exon in the 5' coding region and uses a distinct start codon compared to variant 1. The encoded isoform (2) has a distinct and shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC089984, AC090109, AI590346, AK022147, AK297626, BC028352, DA438409
      Consensus CDS
      CCDS55849.1
      UniProtKB/TrEMBL
      B4DMT9
      UniProtKB/TrEMBL
      E9PH93
      UniProtKB/Swiss-Prot
      Q8TC07
      Related
      ENSP00000318262, OTTHUMP00000241770, ENST00000319106, OTTHUMT00000405228
      Conserved Domains (2) summary
      pfam12068
      Location:19 – 232
      Blast Score: 709
      DUF3548; Domain of unknown function (DUF3548)
      cl02495
      Location:334 – 569
      Blast Score: 418
      RabGAP-TBC; Rab-GTPase-TBC domain

    3. NM_022771.4 → NP_073608.4  TBC1 domain family member 15 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC090109, AI590346, BC028352, DA438409
      Consensus CDS
      CCDS31858.1
      UniProtKB/Swiss-Prot
      Q8TC07
      Related
      ENSP00000448182, OTTHUMP00000213052, ENST00000550746, OTTHUMT00000351266
      Conserved Domains (2) summary
      pfam12068
      Location:8 – 219
      Blast Score: 704
      DUF3548; Domain of unknown function (DUF3548)
      cl02495
      Location:343 – 578
      Blast Score: 419
      RabGAP-TBC; Rab-GTPase-TBC domain

    RNA

    1. NR_027449.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC090109, AI590346, AL833639, DA438409

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      72233487..72320629
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      69283328..69370238
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC089984.23 (73002..147637) None
    genomic AC090109.15 (5487..17937) None
    genomic CH471054.1 EAW97273.1
      EAW97274.1
      EAW97275.1
      EAW97276.1
    mRNA AB449901.1 BAH16644.1
    mRNA AI590346.1 None
    mRNA AK022147.1 BAB13971.1
    mRNA AK090510.1 None
    mRNA AK225221.1 None
    mRNA AK225747.1 None
    mRNA AK292306.1 BAF84995.1
    mRNA AK297626.1 BAG60001.1
    mRNA AK307922.1 None
    mRNA AL157464.1 CAB75666.1
    mRNA AL833639.1 None
    mRNA BC028352.2 AAH28352.1
    mRNA DA438409.1 None
    other-genetic JF432860.1 ADZ16077.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TC07.2 GenPept UniProtKB/Swiss-Prot:Q8TC07
    Q9NSR4 GenPept UniProtKB/TrEMBL:Q9NSR4
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    Additional Links

    Gene LinkOut

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

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