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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. GO annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D5.

UniProtKB/Swiss-Prot for TBC1D13 Gene

  • May act as a GTPase-activating protein for Rab family protein(s).

No data available for Entrez Gene 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
GH09F128732 1.3 Ensembl ENCODE 11.5 -53.9 -53883 1.0 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 SLC30A9 GLIS2 ZER1 PKN3 TBC1D13 PHYHD1 LOC101929270 RNU7-171P LOC100506100 ENSG00000203286
GH09F128631 1.4 Ensembl ENCODE 10.3 -152.2 -152182 6.9 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207 LOC101929270 LOC101929314 SPOUT1 PKN3 CDK9 LOC100506100 ZDHHC12 ODF2 LOC100129352 RNU7-171P
GH09F128844 1.2 Ensembl ENCODE 11.3 +58.7 58677 2.2 PKNOX1 SIN3A GATA2 DEK NCOA1 MEF2D SMARCA4 HMBOX1 KDM1A CTCF SPOUT1 LRRC8A KYAT1 DOLK NUP188 TBC1D13 PHYHD1 LOC100506100 ZDHHC12 PKN3
GH09F128817 1.1 ENCODE 11.9 +31.5 31521 1.8 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 SPOUT1 TBC1D13 URM1 NAIF1 ENDOG PIR42960
GH09F128722 1.1 ENCODE 11.2 -62.8 -62822 3.7 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 PKN3 TBC1D13 SPOUT1 LOC100506100 ZDHHC12
- 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
ENSR00001315238 196 1601 PKNOX1 CREB3L1 MLX 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:
    No Data Available

    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

Protein Domains for TBC1D13 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9NVG8

UniProtKB/Swiss-Prot:

TBC13_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D13: view

No data available for Gene Families for TBC1D13 Gene

Function for TBC1D13 Gene

Molecular function for TBC1D13 Gene

UniProtKB/Swiss-Prot Function:
May act as a GTPase-activating protein for Rab family protein(s).

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

miRNA for TBC1D13 Gene

miRTarBase miRNAs that target TBC1D13

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

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
nucleus 3
cytosol 2
golgi apparatus 2
plasma membrane 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBC1D13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0012505 endomembrane system IBA --
genes like me logo Genes that share ontologies with TBC1D13: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBC1D13 Gene

Pathways & Interactions for TBC1D13 Gene

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

Pathways by source for TBC1D13 Gene

2 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: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

Transcripts for TBC1D13 Gene

Unigene Clusters for TBC1D13 Gene

TBC1 domain family, member 13:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.67 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D13 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBC1D13 34 35
  • 92.31 (n)
dog
(Canis familiaris)
Mammalia TBC1D13 34 35
  • 91.75 (n)
mouse
(Mus musculus)
Mammalia Tbc1d13 34 16 35
  • 90.25 (n)
rat
(Rattus norvegicus)
Mammalia Tbc1d13 34
  • 90.08 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D13 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 91 (a)
OneToMany
-- 35
  • 90 (a)
OneToMany
TBC1D13 34
  • 80.2 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D13 35
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d13 34
  • 74.58 (n)
Str.20440 34
zebrafish
(Danio rerio)
Actinopterygii tbc1d13 34
  • 75.3 (n)
TBC1D13 35
  • 49 (a)
OneToOne
Dr.26923 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005738 34
  • 61.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta GAPsec 34 35
  • 56.41 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-13 34 35
  • 53.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G04830 34
  • 48.77 (n)
rice
(Oryza sativa)
Liliopsida Os01g0908100 34
  • 51.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1952.17c 34
  • 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
rs10529215 -- 128,789,792(+) ACACC(-/AT)ATATA intron-variant
rs10648259 -- 128,789,334(+) AAAAA(-/AAA)GAACT intron-variant
rs10658153 -- 128,790,257(+) TCTCC(-/A/AA/AAA)AAAAA intron-variant
rs10739735 -- 128,797,762(+) CACAC(C/T)ACTGC intron-variant
rs10760577 -- 128,791,489(+) GTGAC(A/G)GAGCC 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 J.R. … StAPckli J. (Traffic 2012) 2 3 64
  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 Cells 2009) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin S.Y. … Soranzo N. (Nat. Genet. 2014) 3 64
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3 64

Products for TBC1D13 Gene

Sources for TBC1D13 Gene

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