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TBC1D15 TBC1 domain family member 15 [ Homo sapiens (human) ]

Gene ID: 64786, updated on 1-Jun-2020

Summary

Official Symbol
TBC1D15provided by HGNC
Official Full Name
TBC1 domain family member 15provided by HGNC
Primary source
HGNC:HGNC:25694
See related
Ensembl:ENSG00000121749 MIM:612662
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
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]
Expression
Ubiquitous expression in thyroid (RPKM 10.9), adrenal (RPKM 9.8) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D15 in Genome Data Viewer
Location:
12q21.1
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (71839751..71927251)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72233487..72320629)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984530 Neighboring gene RAB21, member RAS oncogene family Neighboring gene MRS2 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 15256 Neighboring gene tryptophan hydroxylase 2 Neighboring gene thyrotropin releasing hormone degrading enzyme Neighboring gene TRHDE antisense RNA 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu HIV-1 Vpu is identified to have a physical interaction with TBC1 domain family, member 15 (TBC1D15) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12085, FLJ33191, DKFZp686M1379, DKFZp761D0223

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
TBC1 domain family member 15
Names
GAP for RAB7
GTPase-activating protein RAB7
Tre-2-budding uninhibited by benzimidazole-cell division cycle 16 domain, domain family member 15
Tre2/Bub2/Cdc16 domain family member 15
NP_001139685.2
NP_001139686.1
NP_073608.4
XP_006719627.1
XP_006719628.1
XP_006719629.1
XP_006719630.1
XP_011536981.1
XP_011536982.1
XP_011536983.1
XP_011536984.1
XP_016875314.1
XP_016875316.1
XP_016875317.1

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

    See identical proteins and their annotated locations for NP_001139685.2

    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
    ENSP00000420678.2, ENST00000485960.6
    Conserved Domains (2) summary
    pfam12068
    Location:8224
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:326561
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. NM_001146214.2NP_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
    Consensus CDS
    CCDS55849.1
    UniProtKB/Swiss-Prot
    Q8TC07
    Related
    ENSP00000318262.6, ENST00000319106.12
    Conserved Domains (2) summary
    pfam12068
    Location:19232
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:334569
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_022771.5NP_073608.4  TBC1 domain family member 15 isoform 1

    See identical proteins and their annotated locations for NP_073608.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC090109, AI590346, BC028352
    Consensus CDS
    CCDS31858.1
    UniProtKB/Swiss-Prot
    Q8TC07
    Related
    ENSP00000448182.1, ENST00000550746.5
    Conserved Domains (2) summary
    pfam12068
    Location:8219
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:343578
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

RNA

  1. NR_027449.2 RNA Sequence

    Status: REVIEWED

    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    71839751..71927251
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719566.3XP_006719629.1  TBC1 domain family member 15 isoform X3

    See identical proteins and their annotated locations for XP_006719629.1

    Conserved Domains (2) summary
    pfam12068
    Location:1120
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:244479
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  2. XM_017019825.1XP_016875314.1  TBC1 domain family member 15 isoform X4

    Conserved Domains (2) summary
    pfam12068
    Location:1125
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:227462
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_011538682.1XP_011536984.1  TBC1 domain family member 15 isoform X8

    See identical proteins and their annotated locations for XP_011536984.1

    UniProtKB/TrEMBL
    A8K8E1
    Conserved Domains (1) summary
    smart00164
    Location:97332
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_006719567.2XP_006719630.1  TBC1 domain family member 15 isoform X8

    See identical proteins and their annotated locations for XP_006719630.1

    UniProtKB/TrEMBL
    A8K8E1
    Conserved Domains (1) summary
    smart00164
    Location:97332
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  5. XM_011538679.1XP_011536981.1  TBC1 domain family member 15 isoform X3

    See identical proteins and their annotated locations for XP_011536981.1

    Conserved Domains (2) summary
    pfam12068
    Location:1120
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:244479
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  6. XM_017019828.1XP_016875317.1  TBC1 domain family member 15 isoform X6

  7. XM_011538681.3XP_011536983.1  TBC1 domain family member 15 isoform X7

    Conserved Domains (2) summary
    pfam12068
    Location:8219
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:343453
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  8. XM_006719565.4XP_006719628.1  TBC1 domain family member 15 isoform X2

    Conserved Domains (2) summary
    pfam12068
    Location:2210
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:334569
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  9. XM_006719564.2XP_006719627.1  TBC1 domain family member 15 isoform X1

    Conserved Domains (2) summary
    pfam12068
    Location:19227
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:351586
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  10. XM_011538680.1XP_011536982.1  TBC1 domain family member 15 isoform X3

    See identical proteins and their annotated locations for XP_011536982.1

    Conserved Domains (2) summary
    pfam12068
    Location:1120
    DUF3548; Domain of unknown function (DUF3548)
    smart00164
    Location:244479
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  11. XM_017019827.1XP_016875316.1  TBC1 domain family member 15 isoform X5

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