Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26228
Gene name	Signal transducing adaptor family member 1
Gene symbol	STAP1
Synonyms (NCBI Gene)	BRDG1STAP-1
Chromosome	4
Chromosome location	4q13.2
Summary	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, a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs793888522	A>G	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT735399	hsa-miR-587	Luciferase reporter assayWestern blottingMicroarrayImmunofluorescenceqRT-PCRIn situ hybridizationFlow cytometryImmunocytochemistry (ICC)	33159017
MIRT1395020	hsa-miR-1298	CLIP-seq
MIRT1395021	hsa-miR-3161	CLIP-seq
MIRT1395022	hsa-miR-4511	CLIP-seq
MIRT1395023	hsa-miR-4662a-3p	CLIP-seq
MIRT1395024	hsa-miR-4753-3p	CLIP-seq
MIRT1395025	hsa-miR-4762-3p	CLIP-seq
MIRT1395026	hsa-miR-548a-5p	CLIP-seq
MIRT1395027	hsa-miR-548ab	CLIP-seq
MIRT1395028	hsa-miR-548ak	CLIP-seq
MIRT1395029	hsa-miR-548b-3p	CLIP-seq
MIRT1395030	hsa-miR-548b-5p	CLIP-seq
MIRT1395031	hsa-miR-548c-5p	CLIP-seq
MIRT1395032	hsa-miR-548d-5p	CLIP-seq
MIRT1395033	hsa-miR-548h	CLIP-seq
MIRT1395034	hsa-miR-548i	CLIP-seq
MIRT1395035	hsa-miR-548j	CLIP-seq
MIRT1395036	hsa-miR-548n	CLIP-seq
MIRT1395037	hsa-miR-548t	CLIP-seq
MIRT1395038	hsa-miR-548w	CLIP-seq
MIRT1395039	hsa-miR-548y	CLIP-seq
MIRT1395040	hsa-miR-559	CLIP-seq
MIRT1395020	hsa-miR-1298	CLIP-seq
MIRT1395021	hsa-miR-3161	CLIP-seq
MIRT1395023	hsa-miR-4662a-3p	CLIP-seq
MIRT1395025	hsa-miR-4762-3p	CLIP-seq
MIRT1395020	hsa-miR-1298	CLIP-seq
MIRT1395021	hsa-miR-3161	CLIP-seq
MIRT1395023	hsa-miR-4662a-3p	CLIP-seq
MIRT1395025	hsa-miR-4762-3p	CLIP-seq
MIRT1395020	hsa-miR-1298	CLIP-seq
MIRT1395021	hsa-miR-3161	CLIP-seq
MIRT1395023	hsa-miR-4662a-3p	CLIP-seq
MIRT1395025	hsa-miR-4762-3p	CLIP-seq
MIRT1395020	hsa-miR-1298	CLIP-seq
MIRT1395021	hsa-miR-3161	CLIP-seq
MIRT1395023	hsa-miR-4662a-3p	CLIP-seq
MIRT1395025	hsa-miR-4762-3p	CLIP-seq
MIRT2692181	hsa-miR-23a	CLIP-seq
MIRT2692182	hsa-miR-23b	CLIP-seq
MIRT2692183	hsa-miR-23c	CLIP-seq
MIRT2692184	hsa-miR-28-5p	CLIP-seq
MIRT2692185	hsa-miR-3139	CLIP-seq
MIRT2692186	hsa-miR-520d-5p	CLIP-seq
MIRT2692187	hsa-miR-524-5p	CLIP-seq
MIRT2692188	hsa-miR-708	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001784	Function	Phosphotyrosine residue binding	IPI	20442417
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	IEA
GO:0005068	Function	Transmembrane receptor protein tyrosine kinase adaptor activity	ISS
GO:0005157	Function	Macrophage colony-stimulating factor receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	15090612, 17936702, 21516116, 24728074, 25416956, 28514442, 32296183, 33961781
GO:0005543	Function	Phospholipid binding	NAS	10518561
GO:0005634	Component	Nucleus	IDA	17936702
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	17936702
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	17936702
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IDA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	ISS
GO:0009617	Process	Response to bacterium	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010760	Process	Negative regulation of macrophage chemotaxis	IEA
GO:0010760	Process	Negative regulation of macrophage chemotaxis	ISS
GO:0016604	Component	Nuclear body	IDA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IPI	10518561
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	10518561
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0030971	Function	Receptor tyrosine kinase binding	IEA
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0035591	Function	Signaling adaptor activity	IBA
GO:0035591	Function	Signaling adaptor activity	IEA
GO:0035591	Function	Signaling adaptor activity	IPI	10518561
GO:0050861	Process	Positive regulation of B cell receptor signaling pathway	IBA
GO:0050861	Process	Positive regulation of B cell receptor signaling pathway	IDA	10518561
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	IEA
GO:0060100	Process	Positive regulation of phagocytosis, engulfment	ISS
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	ISS
GO:1900028	Process	Negative regulation of ruffle assembly	IEA
GO:1900028	Process	Negative regulation of ruffle assembly	ISS
GO:1902227	Process	Negative regulation of macrophage colony-stimulating factor signaling pathway	IEA
GO:1902227	Process	Negative regulation of macrophage colony-stimulating factor signaling pathway	ISS
GO:1903980	Process	Positive regulation of microglial cell activation	IEA
GO:1903980	Process	Positive regulation of microglial cell activation	ISS
GO:1904140	Process	Negative regulation of microglial cell migration	IEA
GO:1904151	Process	Positive regulation of microglial cell mediated cytotoxicity	IEA
GO:1904151	Process	Positive regulation of microglial cell mediated cytotoxicity	ISS

MIM	HGNC	e!Ensembl
604298	24133	ENSG00000035720

Q9ULZ2

Protein name

Signal-transducing adaptor protein 1 (STAP-1) (BCR downstream-signaling protein 1) (Docking protein BRDG1) (Stem cell adaptor protein 1)

Protein 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.

PDB

1X1F , 3MAZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	26 → 121	PH domain	Domain
PF00017	SH2	179 → 256	SH2 domain	Domain

Sequence

MMAKKPPKPAPRRIFQERLKITALPLYFEGFLLIKRSGYREYEHYWTELRGTTLFFYTDK
KSIIYVDKLDIVDLTCLTEQNSTEKNCAKFTLVLPKEEVQLKTENTESGEEWRGFILTVT
ELSVPQNVSLLPGQVIKLHEVLEREKKRRIETEQSTSVEKEKEPTEDYVDVLNPMPACFY
TVSRKEATEMLQKNPSLGNMILRPGSDSRNYSITIRQEIDIPRIKHYKVMSVGQNYTIEL
EKPVTLPNLFSVIDYFVKETRGNLRPFICSTDENTGQEPSMEGRSEKLKKNPHIA

Sequence length

295

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypercholesterolemia, familial, 1	Likely pathogenic	rs793888522	RCV000172976	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STAP1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (17)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29330417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	25035151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36713363	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26036859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hypercholesterolemia - homozygous	Hypercholesterolemia	BEFREE	29396260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	GENOMICS_ENGLAND_DG	25170087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	30270055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia Autosomal Recessive	Hypercholesterolemia	Pubtator	25035151	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	CLINVAR_DG	26036859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	30308187, 31427613, 31795497, 31809983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	25035151, 26036859, 28958330, 30269829, 31427613, 35052492, 36648309	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	26036859	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25035151, 30308187, 31427613, 31795497, 31809983		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia	Hypercholesterolemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29330417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	36713363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	GWASCAT_DG	31626034		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

STAP1 (signal transducing adaptor family member 1)