MuScle-logoMuScle - Molecule ID BB751

geneALDH18A1, GSAS, P5CS
nameDelta 1-pyrroline-5-carboxylate synthetase
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
P5CS_HUMANP54886ENSG000000595735832Hs.500645138250, 219150, 612652

Functions and classifications

GOC:mitochondrial inner membrane, F:ATP binding, F:glutamate 5-kinase activity, F:glutamate-5-semialdehyde dehydrogenase activity, P:cellular nitrogen compound metabolic process, P:citrulline biosynthetic process, P:glutamate metabolic process, P:L-proline biosynthetic process, P:ornithine biosynthetic process, P:proline biosynthetic process
UniProt3D-structure, Alternative splicing, Amino-acid biosynthesis, ATP-binding, Complete proteome, Disease mutation, Kinase, Membrane, Mental retardation, Mitochondrion, Mitochondrion inner membrane, Multifunctional enzyme, NADP, Nucleotide-binding, Oxidoreductase, Polymorphism, Proline biosynthesis, Reference proteome, Transferase
PADBENZ: enzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp20136355Homo sapiens50Blood RRMS_(rIFN-Beta-1b_12_month_follow-up) (Multiple sclerosis)0.880.0464553920136355
Exp22021740Homo sapiens27Blood MS (Multiple sclerosis)1.381.59E-0322021740
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)6.543.51E-1522252466
Exp22491253Homo sapiens7Blood RRMS_(High_Sema4A) (Multiple sclerosis)1.680.0429012722491253

Compile date 09-07-2016© MuScle project