SKAP1 (src kinase associated phosphoprotein 1)

Gene

• Entrez ID: 8631
• Gene name: Src kinase associated phosphoprotein 1
• Gene symbol: SKAP1
• Synonyms (NCBI Gene): HEL-S-81p, SCAP1, SKAP55
• Chromosome: 17
• Chromosome location: 17q21.32
• Summary: This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followe

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1350899	hsa-miR-298	CLIP-seq
MIRT1350900	hsa-miR-342-5p	CLIP-seq
MIRT1350901	hsa-miR-4651	CLIP-seq
MIRT1350902	hsa-miR-4664-5p	CLIP-seq
MIRT1350903	hsa-miR-541	CLIP-seq
MIRT1350904	hsa-miR-608	CLIP-seq
MIRT1350905	hsa-miR-654-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001772	Component	Immunological synapse	IDA	12652296
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IGI	12652296
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002821	Process	Positive regulation of adaptive immune response	IDA	12652296
GO:0005515	Function	Protein binding	IPI	16461356, 19798671, 25416956, 26242911, 27335501, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11909961
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11909961
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0016020	Component	Membrane	IEA
GO:0017124	Function	SH3 domain binding	TAS	11909961
GO:0019901	Function	Protein kinase binding	IPI	9195899
GO:0019903	Function	Protein phosphatase binding	IPI	11909961
GO:0033625	Process	Positive regulation of integrin activation	IDA	12652296
GO:0033634	Process	Positive regulation of cell-cell adhesion mediated by integrin	IGI	12652296
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IDA	12652296
GO:0042101	Component	T cell receptor complex	IEA
GO:0042169	Function	SH2 domain binding	IDA	9195899
GO:0044853	Component	Plasma membrane raft	IDA	12652296
GO:0045785	Process	Positive regulation of cell adhesion	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	11909961
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	11909961
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11909961
GO:0050852	Process	T cell receptor signaling pathway	IMP	11909961
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:1903039	Process	Positive regulation of leukocyte cell-cell adhesion	IDA	12652296

Other IDs

• MIM: 604969
• HGNC: 15605
• e!Ensembl: ENSG00000141293

Protein

• UniProt ID: Q86WV1
• Protein name: Src kinase-associated phosphoprotein 1 (Src family-associated phosphoprotein 1) (Src kinase-associated phosphoprotein of 55 kDa) (SKAP-55) (pp55)
• Protein function: Positively regulates T-cell receptor signaling by enhancing the MAP kinase pathway. Required for optimal conjugation between T-cells and antigen-presenting cells by promoting the clustering of integrin ITGAL on the surface of T-cells. May be inv
• PDB: 1U5D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00169	PH	108 → 210	PH domain	Domain
  PF00018	SH3_1	302 → 347	SH3 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in thymocytes and peripheral blood lymphocytes. Also expressed in spleen cells and testis. Present in T-cells (at protein level). {ECO:0000269|PubMed:9195899}.
• Sequence:

  MQAAALPEEIRWLLEDAEEFLAEGLRNENLSAVARDHRDHILRGFQQIKARYYWDFQPQG
  GDIGQDSSDDNHSGTLGLSLTSDAPFLSDYQDEGMEDIVKGAQELDNVIKQGYLEKKSKD
  HSFFGSEWQKRWCVVSRGLFYYYANEKSKQPKGTFLIKGYGVRMAPHLRRDSKKESCFEL
  TSQDRRSYEFTATSPAEARDWVDQISFLLKDLSSLTIPYEEDEEEEEKEETYDDIDGFDS
  PSCGSQCRPTILPGSVGIKEPTEEKEEEDIYEVLPDEEHDLEEDESGTRRKGVDYASYYQ
  GLWDCHGDQPDELSFQRGDLIRILSKEYNMYGWWVGELNSLVGIVPKEYLTTAFEVEER

• Sequence length: 359

Pathways

KEGG:

Rap1 signaling pathway

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHRONIC FATIGUE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFERENTIATED THYROID CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	39358810	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37511629	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	25173882, 30559148	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Hemorrhage	Cerebral hemorrhage	Pubtator	30836997	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37511629	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	GWASCAT_DG	29608257, 30093612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34675350, 36908940	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	29608257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epithelial ovarian cancer	Ovarian cancer	GWASCAT_DG	25581431		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	25118816		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	25118816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	20852632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GWASDB_DG	20852632, 23535730		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	18832135	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25118816, 26555173		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	GWASCAT_DG	20852632, 23535730, 28346442		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	20852632		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20852632, 22253144, 34449791	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	GWASCAT_DG	28346442		★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	25118816		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	34059701	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21652578, 34059701	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	32831060	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37511629	Associate	★☆☆☆☆ Found in Text Mining only