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
  • 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 and B Cell Receptor Signaling Pathway (WikiPathways). 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

Promoters for STAP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STAP1 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for STAP1 Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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 --
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

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
Jensen Localization Image for STAP1 Gene COMPARTMENTS Subcellular localization image for STAP1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 3

No data available for Gene Ontology (GO) - Cellular Components for STAP1 Gene

Pathways & Interactions for STAP1 Gene

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

Gene Ontology (GO) - Biological Process for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010760 negative regulation of macrophage chemotaxis ISS --
GO:0042326 negative regulation of phosphorylation ISS --
GO:0071222 cellular response to lipopolysaccharide ISS --
GO:1902227 negative regulation of macrophage colony-stimulating factor signaling pathway ISS --
GO:1904140 negative regulation of microglial cell migration IEA --
genes like me logo Genes that share ontologies with STAP1: view

No data available for SIGNOR curated interactions for STAP1 Gene

Drugs & Compounds for STAP1 Gene

No Compound Related Data Available

Transcripts for STAP1 Gene

mRNA/cDNA for STAP1 Gene

Unigene Clusters for STAP1 Gene

Signal transducing adaptor family member 1:
Representative Sequences:

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 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



SOURCE GeneReport for Unigene cluster for STAP1 Gene Hs.435579

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

Protein tissue co-expression partners for STAP1 Gene

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia STAP1 35
  • 90.96 (n)
  • 87.91 (a)
STAP1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STAP1 35
  • 88.28 (n)
  • 85.86 (a)
STAP1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stap1 35
  • 84.52 (n)
  • 83.73 (a)
Stap1 16
Stap1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STAP1 35
  • 99.55 (n)
  • 99.66 (a)
STAP1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stap1 35
  • 85.42 (n)
  • 85.42 (a)
oppossum
(Monodelphis domestica)
Mammalia STAP1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia STAP1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves STAP1 35
  • 62.8 (n)
  • 54.31 (a)
STAP1 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stap1 35
  • 55.56 (n)
  • 45.59 (a)
Species with no ortholog for STAP1:
  • 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
rs354874 -- 67,601,836(+) tgagt(G/T)aaatc intron-variant
rs354875 -- 67,601,935(+) tctac(A/G)ttgat intron-variant
rs354876 -- 67,601,967(+) aagac(C/T)agtaa intron-variant
rs354877 -- 67,602,302(+) tttac(C/T)gtctg intron-variant
rs354878 -- 67,602,510(+) aaaaa(A/G)aattg intron-variant

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

Variant ID Type Subtype PubMed ID
nsv879214 CNV Gain 21882294
nsv879215 CNV Loss 21882294
nsv879216 CNV Loss 21882294
esv2660163 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
STAP1
Human Gene Mutation Database (HGMD)
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 23 67
  2. Molecular cloning of murine STAP-1, the stem-cell-specific adaptor protein containing PH and SH2 domains. (PMID: 10679268) Masuhara M. … Osawa M. (Biochem. Biophys. Res. Commun. 2000) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Enhanced prediction of Src homology 2 (SH2) domain binding potentials using a fluorescence polarization-derived c-Met, c-Kit, ErbB, and androgen receptor interactome. (PMID: 24728074) Leung K.K. … Jones R.B. (Mol. Cell Proteomics 2014) 3
  5. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia. (PMID: 25035151) Fouchier S.W. … Hovingh G.K. (Circ. Res. 2014) 3

Products for STAP1 Gene

Sources for STAP1 Gene

Back to Top

Content