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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypercholesterolemia, familial, 1	Likely pathogenic	rs793888522	RCV000172976

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs13112251	RCV005923337
Lung cancer	Benign; Likely benign	rs187909999, rs13112251	RCV005915207 RCV005923338
Malignant tumor of esophagus	Benign	rs13112251	RCV005923336
STAP1-related disorder	Likely benign; Benign; Uncertain significance	rs149803575, rs187909999, rs757970699, rs754366204, rs141604937	RCV003931194 RCV003910928 RCV003419158 RCV003894104 RCV003951745

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33280515
Carcinoma Hepatocellular	Inhibit	36713363
Coronary Artery Disease	Associate	26036859
Hypercholesterolemia Autosomal Recessive	Associate	25035151
Hyperlipoproteinemia Type II	Associate	25035151, 26036859, 28958330, 30269829, 31427613, 35052492, 36648309
Hyperlipoproteinemia Type II	Stimulate	26036859
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	33845308
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	29330417
Spinocerebellar Ataxias	Associate	36713363

STAP1 (signal transducing adaptor family member 1)