SKAP1 (src kinase associated phosphoprotein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8631
Gene name Gene Name - the full gene name approved by the HGNC.
Src kinase associated phosphoprotein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SKAP1
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-81p, SCAP1, SKAP55
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604969 15605 ENSG00000141293
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Rap1 signaling pathway  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (8)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Endometriosis Endometriosis N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Keratoconus Keratoconus N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 39358810
Breast Neoplasms Associate 37511629
Carcinoma Ovarian Epithelial Associate 25173882, 30559148
Cerebral Hemorrhage Associate 30836997
Colorectal Neoplasms Associate 37511629
Dental Fissures Associate 34126038
Endometrial Neoplasms Associate 34675350, 36908940
Histiocytoma Malignant Fibrous Associate 37511629
Mycosis Fungoides Associate 18832135
Neoplasms Associate 23260012, 35568781