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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. Gene Ontology (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

Additional gene information for STAP1 Gene

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

Genomics for STAP1 Gene

GeneHancer (GH) Regulatory Elements for STAP1 Gene

Promoters and enhancers for STAP1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I067558 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -62 1.2 BMI1 BATF POLR2A NFATC1 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 SMARCA5 STAP1 LOC101927237 CENPC
GH04I067697 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.9 +141.5 141461 4.8 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 YY1 POLR2B UBA6 UBA6-AS1 CENPC YTHDC1 ENSG00000270257 STAP1 TMPRSS11D GC04P067653
GH04I067543 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10 -13.6 -13595 2.8 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 CENPC UBA6 YTHDC1 LOC101927237 ENSG00000270257 STAP1 GCOM2 GC04M067379
GH04I067580 Enhancer 1 Ensembl ENCODE dbSUPER 21.5 +23.0 22960 1.7 CBFB ZBED1 JUNB DPF2 RELA ZNF217 NFATC1 IKZF1 IKZF2 RUNX3 CENPC STAP1 LOC101927237 GC04P067584
GH04I067574 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 +17.4 17384 2.8 ARNT POLR2B ZNF766 RUNX3 GTF2B ZNF518A ZNF592 MEF2D MYNN NBN CENPC UBA6 STAP1 LOC101927237 GC04P067584
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around STAP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the STAP1 gene promoter:

Genomic Locations for STAP1 Gene

Genomic Locations for STAP1 Gene
48,610 bases
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:
    Recommended name:
    Signal-transducing adaptor protein 1
    Protein Accession:
    Secondary Accessions:
    • B2R980

    Protein attributes for STAP1 Gene

    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

No data available for DME Specific Peptides for STAP1 Gene

Domains & Families for STAP1 Gene

Gene Families for STAP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for STAP1 Gene

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.

Phenotypes From GWAS Catalog for STAP1 Gene

Gene Ontology (GO) - Molecular Function for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for STAP1

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

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17936702
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 17936702
GO:0005739 mitochondrion IEA,IDA 17936702
GO:0043231 intracellular membrane-bounded organelle IDA --
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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for STAP1

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

No ASD Table

Relevant External Links for STAP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for STAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for STAP1 Gene:


Evidence on tissue expression from TISSUES for STAP1 Gene

  • Nervous system(4.1)
  • Blood(4)
genes like me logo Genes that share expression patterns with STAP1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia STAP1 33 34
  • 99.55 (n)
(Bos Taurus)
Mammalia STAP1 33 34
  • 90.96 (n)
(Canis familiaris)
Mammalia STAP1 33 34
  • 88.28 (n)
(Rattus norvegicus)
Mammalia Stap1 33
  • 85.42 (n)
(Mus musculus)
Mammalia Stap1 33 16 34
  • 84.52 (n)
(Monodelphis domestica)
Mammalia STAP1 34
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia STAP1 34
  • 61 (a)
(Gallus gallus)
Aves STAP1 33 34
  • 62.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia stap1 33
  • 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

Gene Tree for STAP1 (if available)
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 Variation AA Info Type
rs793888522 likely-pathogenic, Familial hypercholesterolemia 67,571,102(+) A/G coding_sequence_variant, missense_variant
rs1000018319 -- 67,576,477(+) A/G/T intron_variant
rs1000045451 -- 67,559,714(+) A/G intron_variant
rs10000695 -- 67,591,977(+) A/G/T genic_downstream_transcript_variant, intron_variant
rs1000129913 -- 67,582,801(+) C/T 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)

Additional Variant Information for STAP1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for STAP1 Gene

Additional Disease Information for STAP1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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 (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  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 (Molecular cell 2007) 3 4 58
  4. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. (PMID: 17052657) Fung HC … Singleton A (The Lancet. Neurology 2006) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for STAP1 Gene

  • Addgene plasmids for STAP1

Sources for STAP1 Gene

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