MuScle-logoMuScle - Molecule ID B0573

geneALG9, DIBD1
nameAlpha-1,2-mannosyltransferase ALG9
speciesHomo sapiens

Molecule reference

SwissProtUniProtEnsEMBLGeneIDUniGeneOMIM
ALG9_HUMANQ9H6U8ENSG00000086848|ENSG00000262577|ENSG0000025852979796Hs.745155606941, 608776

Functions and classifications

GOC:endoplasmic reticulum membrane, C:integral component of membrane, F:dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity, F:dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity, P:dolichol-linked oligosaccharide biosynthetic process, P:mannosylation, P:post-translational protein modification, P:protein N-linked glycosylation via asparagine, "C:endoplasmic reticulum, F:transferase activity, transferring glycosyl groups, P:metabolic process", "F:transferase activity, transferring glycosyl groups, C:integral to membrane, C:intrinsic to endoplasmic reticulum membrane, P:GPI anchor biosynthetic process, P:GPI anchor biosynthetic process", "C:intrinsic to endoplasmic reticulum membrane
UniProtAlternative splicing, Chromosomal rearrangement, Complete proteome, Congenital disorder of glycosylation, Disease mutation, Endoplasmic reticulum, Glycoprotein, Glycosyltransferase, Membrane, Polymorphism, Reference proteome, Transferase, Transmembrane, Transmembrane helix
PADBENZ: enzyme, enzymatic properties

Studies, tissues and diseases

Study IDSpeciesNTissue / SourceCompartmentDiseaseFold change in diseaseP-valuePubMed/DOI
Exp20921521Homo sapiens10Blood PPMS_(PRF1_gene_Risk_haplotype) (Multiple sclerosis)1.420.009828120921521
Exp22252466AHomo sapiens13BloodCD34+ HPCRRMS_SPMS (Multiple sclerosis)1.170.016712722252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)1.512.01E-0722252466
Exp22252466AHomo sapiens16BloodCD34+/CD34- HPCRRMS_SPMS (Multiple sclerosis)2.131.37E-0722252466

Compile date 09-07-2016© MuScle project