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Aliases for TBC1D13 Gene

Aliases for TBC1D13 Gene

  • TBC1 Domain Family Member 13 2 3 5
  • TBC1 Domain Family, Member 13 2

External Ids for TBC1D13 Gene

Previous GeneCards Identifiers for TBC1D13 Gene

  • GC09P126925
  • GC09P128629
  • GC09P130589
  • GC09P131549
  • GC09P101158

Summaries for TBC1D13 Gene

GeneCards Summary for TBC1D13 Gene

TBC1D13 (TBC1 Domain Family Member 13) is a Protein Coding gene. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D5.

UniProtKB/Swiss-Prot for TBC1D13 Gene

  • Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.

Additional gene information for TBC1D13 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D13 Gene

Genomics for TBC1D13 Gene

Regulatory Elements for TBC1D13 Gene

Enhancers for TBC1D13 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H128844 1.4 Ensembl ENCODE dbSUPER 11.3 +58.7 58677 2 HDGF PKNOX1 FOXA2 ARNT SIN3A TCF12 GATA2 FOS ATF7 NCOA1 SPOUT1 LRRC8A KYAT1 DOLK NUP188 TBC1D13 PHYHD1 LOC100506100 ZDHHC12 PKN3
GH09H128633 1.5 Ensembl ENCODE dbSUPER 10.2 -151.1 -151098 4 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 BRCA1 ZNF2 ZBTB7B YY1 SLC30A9 PKN3 ODF2 LOC100129352 ZDHHC12 LOC100506100 LOC101929270 RNU7-171P KYAT1 LRRC8A TBC1D13
GH09H128732 1.3 Ensembl ENCODE 11.5 -53.9 -53883 1 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 GLIS2 ZER1 PKN3 TBC1D13 PHYHD1 LOC101929270 RNU7-171P LOC100506100 ENSG00000203286
GH09H128864 1.4 Ensembl ENCODE dbSUPER 10.4 +76.5 76527 1 ELF3 RB1 DMAP1 DNMT3B RAD21 RARA RFX5 ZNF143 RCOR1 RUNX3 PHYHD1 TBC1D13 KYAT1 LRRC8A GC09P128831
GH09H128817 1.1 ENCODE 11.9 +31.5 31521 1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 NAIF1 NUP188 SPOUT1 GLE1 ODF2 TOR1B TBC1D13 URM1 CIZ1 PIR42960
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBC1D13 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000241908 296 1401 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CBX5 ZNF143

Genomic Location for TBC1D13 Gene

Chromosome:
9
Start:
128,787,204 bp from pter
End:
128,810,432 bp from pter
Size:
23,229 bases
Orientation:
Plus strand

Genomic View for TBC1D13 Gene

Genes around TBC1D13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D13 Gene

Proteins for TBC1D13 Gene

  • Protein details for TBC1D13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVG8-TBC13_HUMAN
    Recommended name:
    TBC1 domain family member 13
    Protein Accession:
    Q9NVG8
    Secondary Accessions:
    • A7E2E7
    • B3KW04
    • B9EGJ8
    • Q5T270
    • Q5T271

    Protein attributes for TBC1D13 Gene

    Size:
    400 amino acids
    Molecular mass:
    46554 Da
    Quaternary structure:
    • Interacts with RAB1A and RAB10; in a GTP-dependent manner.

    Alternative splice isoforms for TBC1D13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D13 Gene

Post-translational modifications for TBC1D13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D13 Gene

No data available for DME Specific Peptides for TBC1D13 Gene

Domains & Families for TBC1D13 Gene

Gene Families for TBC1D13 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TBC1D13 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TBC1D13: view

No data available for UniProtKB/Swiss-Prot for TBC1D13 Gene

Function for TBC1D13 Gene

Molecular function for TBC1D13 Gene

UniProtKB/Swiss-Prot Function:
Acts as a GTPase-activating protein for RAB35. Together with RAB35 may be involved in regulation of insulin-induced glucose transporter SLC2A4/GLUT4 translocation to the plasma membrane in adipocytes.

Phenotypes From GWAS Catalog for TBC1D13 Gene

Gene Ontology (GO) - Molecular Function for TBC1D13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IBA --
GO:0017137 Rab GTPase binding IBA --
genes like me logo Genes that share ontologies with TBC1D13: view

Phenotypes for TBC1D13 Gene

genes like me logo Genes that share phenotypes with TBC1D13: view

Animal Model Products

CRISPR Products

miRNA for TBC1D13 Gene

miRTarBase miRNAs that target TBC1D13

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBC1D13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D13 Gene

Localization for TBC1D13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D13 Gene

Membrane. 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 TBC1D13 gene
Compartment Confidence
cytosol 4
nucleus 3
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TBC1D13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0012505 endomembrane system IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TBC1D13: view

Pathways & Interactions for TBC1D13 Gene

genes like me logo Genes that share pathways with TBC1D13: view

Pathways by source for TBC1D13 Gene

3 Reactome pathways for TBC1D13 Gene

Gene Ontology (GO) - Biological Process for TBC1D13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IBA --
GO:0031338 regulation of vesicle fusion IBA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0090630 activation of GTPase activity IBA --
GO:1902017 NOT regulation of cilium assembly IMP 17646400
genes like me logo Genes that share ontologies with TBC1D13: view

No data available for SIGNOR curated interactions for TBC1D13 Gene

Drugs & Compounds for TBC1D13 Gene

No Compound Related Data Available

Transcripts for TBC1D13 Gene

Unigene Clusters for TBC1D13 Gene

TBC1 domain family, member 13:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TBC1D13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D13 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: - - -
SP2: - - - - - - -
SP3: - - - - - - -
SP4: - -
SP5:
SP6:
SP7: -

Relevant External Links for TBC1D13 Gene

GeneLoc Exon Structure for
TBC1D13
ECgene alternative splicing isoforms for
TBC1D13

Expression for TBC1D13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TBC1D13 Gene

Protein differential expression in normal tissues from HIPED for TBC1D13 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D13 Gene



Protein tissue co-expression partners for TBC1D13 Gene

NURSA nuclear receptor signaling pathways regulating expression of TBC1D13 Gene:

TBC1D13

SOURCE GeneReport for Unigene cluster for TBC1D13 Gene:

Hs.3376

Evidence on tissue expression from TISSUES for TBC1D13 Gene

  • Nervous system(4.8)
  • Lung(2.2)
genes like me logo Genes that share expression patterns with TBC1D13: view

Primer Products

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 TBC1D13 Gene

Orthologs for TBC1D13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBC1D13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D13 33 34
  • 99.67 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D13 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D13 33 34
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia TBC1D13 33 34
  • 91.75 (n)
mouse
(Mus musculus)
Mammalia Tbc1d13 33 16 34
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d13 33
  • 90.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D13 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 91 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
TBC1D13 33
  • 80.2 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D13 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d13 33
  • 74.58 (n)
Str.20440 33
zebrafish
(Danio rerio)
Actinopterygii tbc1d13 33
  • 75.3 (n)
TBC1D13 34
  • 49 (a)
OneToOne
Dr.26923 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005738 33
  • 61.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta GAPsec 33 34
  • 56.41 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-13 33 34
  • 53.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04830 33
  • 48.77 (n)
rice
(Oryza sativa)
Liliopsida Os01g0908100 33
  • 51.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1952.17c 33
  • 47.95 (n)
Species where no ortholog for TBC1D13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D13 Gene

ENSEMBL:
Gene Tree for TBC1D13 (if available)
TreeFam:
Gene Tree for TBC1D13 (if available)

Paralogs for TBC1D13 Gene

Paralogs for TBC1D13 Gene

(1) SIMAP similar genes for TBC1D13 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with TBC1D13: view

Variants for TBC1D13 Gene

Sequence variations from dbSNP and Humsavar for TBC1D13 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000065038 -- 128,792,221(+) AGCAA(C/T)GGACA intron-variant
rs1000283732 -- 128,787,648(+) CCCCC(A/C)TGCCC intron-variant
rs1000321743 -- 128,796,863(+) CCCGG(A/G)AGTTG intron-variant
rs1000358573 -- 128,785,459(+) CAGCC(C/T)GGGGT upstream-variant-2KB
rs1000381521 -- 128,803,191(+) TTCAG(C/G)CATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D13 Gene

Variant ID Type Subtype PubMed ID
esv2662893 CNV deletion 23128226
esv2671842 CNV deletion 23128226
esv2739076 CNV deletion 23290073
esv3545495 CNV deletion 23714750
esv3545496 CNV deletion 23714750
esv3621817 CNV loss 21293372
esv3621818 CNV loss 21293372
nsv1118371 CNV deletion 24896259
nsv521120 CNV loss 19592680
nsv615411 CNV loss 21841781
nsv615412 CNV loss 21841781

Variation tolerance for TBC1D13 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.80; 16.79% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D13 Gene

Disorders for TBC1D13 Gene

Relevant External Links for TBC1D13

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D13

No disorders were found for TBC1D13 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TBC1D13 Gene

Publications for TBC1D13 Gene

  1. TBC1D13 is a RAB35 specific GAP that plays an important role in GLUT4 trafficking in adipocytes. (PMID: 22762500) Davey JR … Stöckli J (Traffic (Copenhagen, Denmark) 2012) 2 3 60
  2. 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 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3 60
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 60

Products for TBC1D13 Gene

Sources for TBC1D13 Gene

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