Aliases for TBC1D13 Gene

Aliases for TBC1D13 Gene

  • TBC1 Domain Family Member 13 2 3 4 5
  • Epididymis Secretory Sperm Binding Protein 3
  • TBC1 Domain Family, Member 13 2
  • FLJ10743 2
  • TBC1D13 5

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. Diseases associated with TBC1D13 include Breast Apocrine Carcinoma. Among its related pathways are Vesicle-mediated transport and TBC/RABGAPs. Gene Ontology (GO) annotations related to this gene include GTPase activator activity. An important paralog of this gene is TBC1D8.

UniProtKB/Swiss-Prot Summary 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.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TBC1D13 Gene

Genomics for TBC1D13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TBC1D13 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TBC1D13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TBC1D13

Top Transcription factor binding sites by QIAGEN in the TBC1D13 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HSF2
  • NF-Y
  • NF-YA
  • NF-YB
  • p53
  • YY1

Genomic Locations for TBC1D13 Gene

Latest Assembly
chr9:128,787,253-128,810,432
(GRCh38/hg38)
Size:
23,180 bases
Orientation:
Plus strand

Previous Assembly
chr9:131,549,532-131,572,709
(GRCh37/hg19 by Entrez Gene)
Size:
23,178 bases
Orientation:
Plus strand

chr9:131,549,483-131,572,711
(GRCh37/hg19 by Ensembl)
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

Suggested Antigen Peptide Sequences for TBC1D13 Gene

GenScript: Design optimal peptide antigens:
  • TBC1 domain family, member 13 (A7E2E7_HUMAN)
  • cDNA FLJ41834 fis, clone NT2RI3000622, highly similar to TBC1 domain family member 13 (B3KW04_HUMAN)
  • TBC1 domain family, member 13 (B9EGJ8_HUMAN)
  • TBC1 domain family member 13 (TBC13_HUMAN)
genes like me logo Genes that share domains with TBC1D13: view

No data available for Graphical View of Domain Structure and 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 21873635
GO:0005515 protein binding IPI 32296183
GO:0031267 small 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

miRNA for TBC1D13 Gene

miRTarBase miRNAs that target TBC1D13

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D13

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 3
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

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:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TBC1D13: view

Pathways & Interactions for TBC1D13 Gene

PathCards logo

SuperPathways 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 21873635
GO:0043547 positive regulation of GTPase activity IEA --
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 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

mRNA/cDNA for TBC1D13 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TBC1D13

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

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, MaxQB, and MOPED for TBC1D13 Gene



Protein tissue co-expression partners for TBC1D13 Gene

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

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 29 30
  • 99.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TBC1D13 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TBC1D13 29 30
  • 92.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TBC1D13 29 30
  • 91.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tbc1d13 29 16 30
  • 90.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tbc1d13 29
  • 90.08 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D13 30
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 91 (a)
OneToMany
-- 30
  • 90 (a)
OneToMany
TBC1D13 29
  • 80.2 (n)
Lizard
(Anolis carolinensis)
Reptilia TBC1D13 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tbc1d13 29
  • 74.58 (n)
Str.20440 29
Zebrafish
(Danio rerio)
Actinopterygii tbc1d13 29
  • 75.3 (n)
TBC1D13 30
  • 49 (a)
OneToOne
Dr.26923 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005738 29
  • 61.08 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta GAPsec 29 30
  • 56.41 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea tbc-13 29 30
  • 53.32 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G04830 29
  • 48.77 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0908100 29
  • 51.54 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1952.17c 29
  • 47.95 (n)
Species where no ortholog for TBC1D13 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)
  • 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TBC1D13: view image
Alliance of Genome Resources:
Additional Orthologs for TBC1D13

Paralogs for TBC1D13 Gene

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

  • TBC13_HUMAN
  • A7E2E7_HUMAN
  • B3KW04_HUMAN
  • B9EGJ8_HUMAN
genes like me logo Genes that share paralogs with TBC1D13: view

Variants for TBC1D13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TBC1D13 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs1572912 -- p.Val190Ala

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TBC1D13 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for TBC1D13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D13
Leiden Open Variation Database (LOVD)
TBC1D13

SNP Genotyping and Copy Number Assays for research

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

Disorders for TBC1D13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D13 Gene - From: COP

Disorder Aliases PubMed IDs
breast apocrine carcinoma
  • apocrine carcinoma of breast
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TBC1D13

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

No data available for 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
  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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. An atlas of genetic influences on human blood metabolites. (PMID: 24816252) Shin SY … Soranzo N (Nature genetics 2014) 3

Products for TBC1D13 Gene

Sources for TBC1D13 Gene