MuScle-logoMuScle - Molecule ID B0839

geneAPH1A, PSF, CGI-78
nameGamma-secretase subunit APH-1A
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
APH1A_HUMANQ96BI3ENSG00000117362|ENSG0000026633451107Hs.108408607629

Functions and classifications

GOC:endoplasmic reticulum, C:endoplasmic reticulum membrane, C:Golgi apparatus, C:Golgi cisterna membrane, C:integral component of plasma membrane, F:endopeptidase activity, P:amyloid precursor protein catabolic process, P:apoptotic signaling pathway, P:membrane protein ectodomain proteolysis, P:membrane protein intracellular domain proteolysis, P:metanephros development, P:neurotrophin TRK receptor signaling pathway, P:Notch receptor processing, P:Notch signaling pathway, P:positive regulation of apoptotic process, P:positive regulation of catalytic activity, P:protein processing, C:integral component of membrane, C:integral to plasma membrane, P:apoptotic process, P:nerve growth factor receptor signaling pathway, C:integral to membrane
UniProtAlternative splicing, Complete proteome, Endoplasmic reticulum, Golgi apparatus, Membrane, Notch signaling pathway, Reference proteome, Transmembrane, Transmembrane helix
PADBMOD: modulator, regulator

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp20136355Homo sapiens50Blood RRMS_(rIFN-Beta-1b_24_month_follow-up) (Multiple sclerosis)0.870.0479007620136355
Exp21886806Homo sapiens12Blood RRMS_(IFN-Beta-1a_3_month_follow-up) (Multiple sclerosis)1.531.95E-0221886806
Exp22021740Homo sapiens27Blood MS (Multiple sclerosis)2.311.48E-0722021740
Exp22252466AHomo sapiens13BloodCD34- HPCRRMS_SPMS (Multiple sclerosis)0.563.74E-0222252466
Exp22252466AHomo sapiens13BloodCD34- HPCRRMS_SPMS (Multiple sclerosis)0.601.82E-0222252466

Compile date 09-07-2016© MuScle project