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] See more...

Aliases for TBC1D15 Gene

Aliases for TBC1D15 Gene

  • TBC1 Domain Family Member 15 2 3 4 5
  • GTPase-Activating Protein RAB7 3 4
  • GAP For RAB7 3 4
  • Tre-2-Budding Uninhibited By Benzimidazole-Cell Division Cycle 16 Domain, Domain Family Member 15 3
  • Tre2/Bub2/Cdc16 Domain Family Member 15 3
  • TBC1 Domain Family, Member 15 2
  • DKFZp761D0223 2
  • RAB7-GAP 3
  • FLJ12085 2
  • Rab7-GAP 4
  • TBC1D15 5

External Ids for TBC1D15 Gene

Previous GeneCards Identifiers for TBC1D15 Gene

  • GC12P070519
  • GC12P072233
  • GC12P069283

Summaries for TBC1D15 Gene

Entrez Gene Summary for TBC1D15 Gene

  • 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]

GeneCards Summary for TBC1D15 Gene

TBC1D15 (TBC1 Domain Family Member 15) is a Protein Coding gene. Diseases associated with TBC1D15 include 3-Methylglutaconic Aciduria, Type Iii and Parkinson Disease, Late-Onset. Among its related pathways are TBC/RABGAPs and Mitophagy - animal. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D17.

UniProtKB/Swiss-Prot Summary for TBC1D15 Gene

  • Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity).

Gene Wiki entry for TBC1D15 Gene

Additional gene information for TBC1D15 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D15 Gene

Genomics for TBC1D15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D15 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J071838 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 612.6 +0.3 271 3.6 RNF2 CREB1 GATAD2A ZNF629 TFE3 LEF1 IKZF1 ZNF692 POLR2A TARDBP TBC1D15 piR-59933-001 TPH2
GH12J071870 Promoter 0.7 Ensembl 21.6 +30.9 30894 0.4 IKZF2 RUNX3 JUNB PRDM6 ATF2 ATF7 MTA2 IKZF1 NONHSAG011682.2 TBC1D15 piR-34822-069 TPH2
GH12J071864 Enhancer 0.5 ENCODE 24.9 +26.0 25986 2 ZIC2 ZNF600 ZNF189 EBF1 GLIS1 RAD21 HNF4A ZSCAN21 TBC1D15 piR-34822-069 MRS2P2 lnc-ZFC3H1-11 TPH2
GH12J071780 Enhancer 0.7 Ensembl ENCODE 12.7 -59.0 -59003 1.1 CTCF TEAD4 REST RAD21 TRIM22 SMC3 TEAD1 ELF1 ZNF654 ARID4B TBC1D15 RAB21 TPH2 MN309579 NONHSAG011679.2
GH12J071787 Enhancer 0.7 Ensembl ENCODE 12 -50.5 -50506 4.8 SOX6 ZNF766 HMBOX1 NR2F2 SPI1 SMARCE1 ZNF148 ARID1B TBC1D15 TPH2 MN309579 ENSG00000257410 RAB21
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D15

Top Transcription factor binding sites by QIAGEN in the TBC1D15 gene promoter:
  • Egr-1
  • GATA-1
  • Hlf
  • IRF-7A
  • LCR-F1
  • Nkx2-5
  • Nkx3-1
  • Nkx3-1 v1
  • RORalpha1

Genomic Locations for TBC1D15 Gene

Genomic Locations for TBC1D15 Gene
chr12:71,839,707-71,927,251
(GRCh38/hg38)
Size:
87,545 bases
Orientation:
Plus strand
chr12:72,233,487-72,320,629
(GRCh37/hg19)
Size:
87,143 bases
Orientation:
Plus strand

Genomic View for TBC1D15 Gene

Genes around TBC1D15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D15 Gene

Proteins for TBC1D15 Gene

  • Protein details for TBC1D15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TC07-TBC15_HUMAN
    Recommended name:
    TBC1 domain family member 15
    Protein Accession:
    Q8TC07
    Secondary Accessions:
    • B4DMT9
    • B9A6L6
    • J3KNI9
    • Q9HA83

    Protein attributes for TBC1D15 Gene

    Size:
    691 amino acids
    Molecular mass:
    79491 Da
    Quaternary structure:
    • Interacts with non-phosphorylated form of RAB8A; phosphorylation of RAB8A at 'Thr-72' disrupts this interaction.

    Alternative splice isoforms for TBC1D15 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D15 Gene

Post-translational modifications for TBC1D15 Gene

  • Ubiquitination at Lys10, Lys26, Lys68, Lys81, Lys107, Lys125, Lys239, Lys240, Lys288, Lys324, Lys339, Lys369, Lys379, Lys580, and Lys589
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBC1D15 Gene

Domains & Families for TBC1D15 Gene

Gene Families for TBC1D15 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D15 Gene

InterPro:
Blocks:
  • RabGAP/TBC domain
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D15 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ77374 (A8K8E1_HUMAN)
  • GTPase-activating protein RAB7 (TBC15_HUMAN)
genes like me logo Genes that share domains with TBC1D15: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TBC1D15 Gene

Function for TBC1D15 Gene

Molecular function for TBC1D15 Gene

UniProtKB/Swiss-Prot Function:
Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6 (By similarity).

Phenotypes From GWAS Catalog for TBC1D15 Gene

Gene Ontology (GO) - Molecular Function for TBC1D15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA,ISS --
GO:0005515 protein binding IPI 20562859
GO:0017137 Rab GTPase binding IBA 21873635
genes like me logo Genes that share ontologies with TBC1D15: view
genes like me logo Genes that share phenotypes with TBC1D15: view

Animal Model Products

CRISPR Products

miRNA for TBC1D15 Gene

miRTarBase miRNAs that target TBC1D15

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D15

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D15 Gene

Localization for TBC1D15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D15 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBC1D15 gene
Compartment Confidence
extracellular 3
mitochondrion 3
cytosol 3
nucleus 2
endosome 2
lysosome 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TBC1D15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm ISS --
genes like me logo Genes that share ontologies with TBC1D15: view

Pathways & Interactions for TBC1D15 Gene

PathCards logo

SuperPathways for TBC1D15 Gene

genes like me logo Genes that share pathways with TBC1D15: view

Pathways by source for TBC1D15 Gene

3 Reactome pathways for TBC1D15 Gene
1 KEGG pathway for TBC1D15 Gene

Gene Ontology (GO) - Biological Process for TBC1D15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA 21873635
GO:0043087 regulation of GTPase activity ISS --
GO:0090630 activation of GTPase activity IBA 21873635
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D15: view

No data available for SIGNOR curated interactions for TBC1D15 Gene

Drugs & Compounds for TBC1D15 Gene

No Compound Related Data Available

Transcripts for TBC1D15 Gene

mRNA/cDNA for TBC1D15 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D15

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D15 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - -
SP2: - - -
SP3: - - - -
SP4: -
SP5:

Relevant External Links for TBC1D15 Gene

GeneLoc Exon Structure for
TBC1D15

Expression for TBC1D15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D15 Gene

Protein differential expression in normal tissues from HIPED for TBC1D15 Gene

This gene is overexpressed in Bone (24.4), Lymph node (10.3), and Peripheral blood mononuclear cells (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TBC1D15 Gene



Protein tissue co-expression partners for TBC1D15 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TBC1D15

SOURCE GeneReport for Unigene cluster for TBC1D15 Gene:

Hs.284630

Evidence on tissue expression from TISSUES for TBC1D15 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Kidney(2.3)
  • Skin(2.1)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with TBC1D15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TBC1D15 Gene

Orthologs for TBC1D15 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBC1D15 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TBC1D15 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBC1D15 30 31
  • 93.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D15 30 31
  • 93.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbc1d15 30
  • 88.43 (n)
Mouse
(Mus musculus)
Mammalia Tbc1d15 30 17 31
  • 87.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D15 31
  • 84 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBC1D15 31
  • 53 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TBC1D15 30 31
  • 78.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TBC1D15 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbc1d15 30
  • 74.92 (n)
Zebrafish
(Danio rerio)
Actinopterygii tbc1d15 30 31
  • 65.32 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007911 30
  • 47.59 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Tbc1d15-17 30
  • 46.1 (n)
CG11490 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbc-15 30 31
  • 55.65 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP7 31 33
  • 25 (a)
OneToMany
Wheat
(Triticum aestivum)
Liliopsida Ta.12532 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4773 31
  • 42 (a)
OneToMany
Species where no ortholog for TBC1D15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for TBC1D15 Gene

ENSEMBL:
Gene Tree for TBC1D15 (if available)
TreeFam:
Gene Tree for TBC1D15 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D15: view image

Paralogs for TBC1D15 Gene

(4) SIMAP similar genes for TBC1D15 Gene using alignment to 8 proteins:

  • TBC15_HUMAN
  • A8K8E1_HUMAN
  • C9JA93_HUMAN
  • F8VV61_HUMAN
  • F8WAX5_HUMAN
  • F8WCB5_HUMAN
  • F8WDJ1_HUMAN
  • F8WF35_HUMAN
genes like me logo Genes that share paralogs with TBC1D15: view

Variants for TBC1D15 Gene

Additional dbSNP identifiers (rs#s) for TBC1D15 Gene

Structural Variations from Database of Genomic Variants (DGV) for TBC1D15 Gene

Variant ID Type Subtype PubMed ID
esv2657617 CNV deletion 23128226
esv2662131 CNV deletion 23128226
esv2759907 CNV gain 17122850
esv3433516 CNV insertion 20981092
esv35030 CNV gain 17911159
esv3629916 CNV gain 21293372
esv3629919 CNV loss 21293372
esv3629920 CNV loss 21293372
esv3892218 CNV gain 25118596
nsv1054578 CNV loss 25217958
nsv518498 CNV loss 19592680
nsv559329 CNV loss 21841781
nsv559361 CNV loss 21841781
nsv818924 CNV gain 17921354
nsv8988 CNV loss 18304495

Variation tolerance for TBC1D15 Gene

Residual Variation Intolerance Score: 5.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TBC1D15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D15

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D15 Gene

Disorders for TBC1D15 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TBC1D15 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D15

genes like me logo Genes that share disorders with TBC1D15: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D15 Gene

Publications for TBC1D15 Gene

  1. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K … Fukuda M (Genes to cells : devoted to molecular & cellular mechanisms 2009) 3 4
  2. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4
  3. TBC domain family, member 15 is a novel mammalian Rab GTPase-activating protein with substrate preference for Rab7. (PMID: 16055087) Zhang XM … Rowe T (Biochemical and biophysical research communications 2005) 2 3
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TBC1D15 Gene

Sources for TBC1D15 Gene