Free for academic non-profit institutions. Other users need a Commercial license

Aliases for STAP1 Gene

Aliases for STAP1 Gene

  • Signal Transducing Adaptor Family Member 1 2 3 5
  • BCR Downstream-Signaling Protein 1 3 4
  • Stem Cell Adaptor Protein 1 3 4
  • Docking Protein BRDG1 3 4
  • STAP-1 3 4
  • BRDG1 3 4
  • Signal-Transducing Adaptor Protein 1 3
  • BCR Downstream Signaling 1 2

External Ids for STAP1 Gene

Previous GeneCards Identifiers for STAP1 Gene

  • GC04P068108
  • GC04P068424
  • GC04P064337

Summaries for STAP1 Gene

Entrez Gene Summary for STAP1 Gene

  • The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for STAP1 Gene

STAP1 (Signal Transducing Adaptor Family Member 1) is a Protein Coding gene. Among its related pathways are Kit Receptor Signaling Pathway. GO annotations related to this gene include protein kinase binding and SH3/SH2 adaptor activity. An important paralog of this gene is STAP2.

UniProtKB/Swiss-Prot for STAP1 Gene

  • In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.

Gene Wiki entry for STAP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAP1 Gene

Genomics for STAP1 Gene

Regulatory Elements for STAP1 Gene

Enhancers for STAP1 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
GH04F067580 0.9 Ensembl ENCODE 21.5 +23.0 22961 1.7 CBX5 ZBED1 IKZF1 CBFB JUNB ZHX2 DPF2 CREM RELA CENPC STAP1 LOC101927237 GC04P067584
GH04F067698 1.1 ENCODE 10.9 +141.8 141826 4.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A YBX1 DMAP1 YY1 UBA6 UBA6-AS1 CENPC STAP1 TMPRSS11D GC04P067653
GH04F067574 1.2 Ensembl ENCODE 9.7 +17.4 17384 2.8 TBP NFRKB ZNF366 CBX5 ETV6 CREM BCLAF1 SMAD5 GTF2B ZEB2 CENPC UBA6 STAP1 LOC101927237 GC04P067584
GH04F067712 1.1 Ensembl ENCODE 10.2 +155.3 155344 2.2 HDAC1 PKNOX1 THRB GATA2 CREM SMARCA5 ELF1 TFDP1 PBX2 IKZF1 UBA6 UBA6-AS1 GNRHR STAP1 ST3GAL1P1 GC04M067708
GH04F067543 1.1 ENCODE 10 -13.6 -13596 2.8 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CENPC UBA6 LOC101927237 STAP1 GCOM2 GC04M067379
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STAP1 on UCSC Golden Path with GeneCards custom track

Promoters for STAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001860049 672 1601 CTCF TBL1XR1 BMI1 POLR2A EED ETV6 CREM MTA2 CBFB ZBED1

Genomic Location for STAP1 Gene

Chromosome:
4
Start:
67,558,728 bp from pter
End:
67,607,337 bp from pter
Size:
48,610 bases
Orientation:
Plus strand

Genomic View for STAP1 Gene

Genes around STAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAP1 Gene

Proteins for STAP1 Gene

  • Protein details for STAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULZ2-STAP1_HUMAN
    Recommended name:
    Signal-transducing adaptor protein 1
    Protein Accession:
    Q9ULZ2
    Secondary Accessions:
    • B2R980

    Protein attributes for STAP1 Gene

    Size:
    295 amino acids
    Molecular mass:
    34291 Da
    Quaternary structure:
    • Interacts with KIT and CSF1R (By similarity). Interacts with URI1; the interaction is phosphorylation-dependent and occurs in a growth-dependent manner.

    Three dimensional structures from OCA and Proteopedia for STAP1 Gene

neXtProt entry for STAP1 Gene

Post-translational modifications for STAP1 Gene

  • Phosphorylated on tyrosine by TEC. Phosphorylated on tyrosine by KIT (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STAP1 Gene

Antibody Products

  • Abcam antibodies for STAP1

No data available for DME Specific Peptides for STAP1 Gene

Domains & Families for STAP1 Gene

Gene Families for STAP1 Gene

Protein Domains for STAP1 Gene

Suggested Antigen Peptide Sequences for STAP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULZ2

UniProtKB/Swiss-Prot:

STAP1_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with STAP1: view

Function for STAP1 Gene

Molecular function for STAP1 Gene

UniProtKB/Swiss-Prot Function:
In BCR signaling, appears to function as a docking protein acting downstream of TEC and participates in a positive feedback loop by increasing the activity of TEC.

Gene Ontology (GO) - Molecular Function for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine binding IPI 20442417
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity ISS --
GO:0005070 SH3/SH2 adaptor activity IPI 10518561
GO:0005157 macrophage colony-stimulating factor receptor binding IEA --
GO:0005515 protein binding IPI 15090612
genes like me logo Genes that share ontologies with STAP1: view
genes like me logo Genes that share phenotypes with STAP1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for STAP1 Gene

Localization for STAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAP1 Gene

Nucleus. Cytoplasm. Mitochondrion.

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 STAP1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17936702
GO:0005737 cytoplasm IEA,IDA 17936702
GO:0005739 mitochondrion IEA,IDA 17936702
GO:0043234 protein complex IDA 18468998
genes like me logo Genes that share ontologies with STAP1: view

Pathways & Interactions for STAP1 Gene

genes like me logo Genes that share pathways with STAP1: view

Pathways by source for STAP1 Gene

Gene Ontology (GO) - Biological Process for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway ISS --
GO:0009967 positive regulation of signal transduction IEA --
GO:0010628 positive regulation of gene expression ISS --
GO:0010760 negative regulation of macrophage chemotaxis ISS --
GO:0042326 negative regulation of phosphorylation ISS --
genes like me logo Genes that share ontologies with STAP1: view

No data available for SIGNOR curated interactions for STAP1 Gene

Transcripts for STAP1 Gene

mRNA/cDNA for STAP1 Gene

Unigene Clusters for STAP1 Gene

Signal transducing adaptor family member 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STAP1 Gene

No ASD Table

Relevant External Links for STAP1 Gene

GeneLoc Exon Structure for
STAP1
ECgene alternative splicing isoforms for
STAP1

Expression for STAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAP1 Gene

This gene is overexpressed in Spleen (x7.8) and Kidney - Cortex (x4.4).

Protein differential expression in normal tissues from HIPED for STAP1 Gene

This gene is overexpressed in Ovary (29.9), Lymph node (25.5), and Peripheral blood mononuclear cells (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for STAP1 Gene



Protein tissue co-expression partners for STAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of STAP1 Gene:

STAP1

SOURCE GeneReport for Unigene cluster for STAP1 Gene:

Hs.435579
genes like me logo Genes that share expression patterns with STAP1: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for STAP1 Gene

Orthologs for STAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia STAP1 34 35
  • 99.55 (n)
cow
(Bos Taurus)
Mammalia STAP1 34 35
  • 90.96 (n)
dog
(Canis familiaris)
Mammalia STAP1 34 35
  • 88.28 (n)
rat
(Rattus norvegicus)
Mammalia Stap1 34
  • 85.42 (n)
mouse
(Mus musculus)
Mammalia Stap1 34 16 35
  • 84.52 (n)
oppossum
(Monodelphis domestica)
Mammalia STAP1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAP1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAP1 34 35
  • 62.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia stap1 34
  • 55.56 (n)
Species where no ortholog for STAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for STAP1 Gene

ENSEMBL:
Gene Tree for STAP1 (if available)
TreeFam:
Gene Tree for STAP1 (if available)

Paralogs for STAP1 Gene

Paralogs for STAP1 Gene

(1) SIMAP similar genes for STAP1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with STAP1: view

Variants for STAP1 Gene

Sequence variations from dbSNP and Humsavar for STAP1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs793888522 Likely pathogenic 67,571,102(+) ACTGG(A/G)CAGAG reference, missense
rs10000695 -- 67,591,977(+) GTGTC(A/G)TCTTT intron-variant
rs10002109 -- 67,590,356(+) ATCTC(C/T)AAGTC intron-variant
rs10002440 -- 67,591,331(+) CTTAA(A/T)AGCAA intron-variant
rs10002486 -- 67,560,652(+) TGTGT(C/G/T)TGTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for STAP1 Gene

Variant ID Type Subtype PubMed ID
esv2660163 CNV deletion 23128226
esv3600852 CNV loss 21293372

Variation tolerance for STAP1 Gene

Residual Variation Intolerance Score: 24.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAP1 Gene

Human Gene Mutation Database (HGMD)
STAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAP1 Gene

Disorders for STAP1 Gene

Relevant External Links for STAP1

Genetic Association Database (GAD)
STAP1
Human Genome Epidemiology (HuGE) Navigator
STAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAP1

No disorders were found for STAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STAP1 Gene

Publications for STAP1 Gene

  1. Molecular cloning of a docking protein, BRDG1, that acts downstream of the Tec tyrosine kinase. (PMID: 10518561) Ohya K. … Mano H. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. S6K1-mediated disassembly of mitochondrial URI/PP1gamma complexes activates a negative feedback program that counters S6K1 survival signaling. (PMID: 17936702) Djouder N. … Krek W. (Mol. Cell 2007) 3 4 64
  4. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. (PMID: 17052657) Fung H.C. … Singleton A. (Lancet Neurol 2006) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for STAP1 Gene

Sources for STAP1 Gene

Content
Loading form....