PIGM
entrez
93183
canonical
uniprot
Q9H3S5
canonical
ensembl
ENSG00000143315
resolver
ensp
ENSP00000357069
resolver
enst
ENST00000368090
resolver
genesymbol
PIGM
resolver
hgnc
HGNC:18858
resolver
uniprot_entry
PIGM_HUMAN
resolver
amino_acid_sequence
MGSTKHWGEWLLNLKVAPAGVFGVAFLARVALVFYGVFQDRTLHVRYTDIDYQVFTDAARFVTEGRSPYLRATYRYTPLLGWLLTPNIYLSELFGKFLFISCDLLTAFLLYRLLLLKGLGRRQACGYCVFWLLNPLPMAVSSRGNADSIVASLVLMVLYLIKKRLVACAAVFYGFAVHMKIYPVTYILPITLHLLPDRDNDKSLRQFRYTFQACLYELLKRLCNRAVLLFVAVAGLTFFALSFGFYYEYGWEFLEHTYFYHLTRRDIRHNFSPYFYMLYLTAESKWSFSLGIAAFLPQLILLSAVSFAYYRDLVFCCFLHTSIFVTFNKVCTSQYFLWYLCLLPLVMPLVRMPWKRAVVLLMLWFIGQAMWLAPAYVLEFQGKNTFLFIWLAGLFFLLINCSILIQIISHYKEEPLTERIKYD
uniprot
proteins
disease_involvement
DISEASE: Glycosylphosphatidylinositol biosynthesis defect 1 (GPIBD1) [MIM:610293]: An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. {ECO:0000269|PubMed:16767100, ECO:0000269|PubMed:31445883}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Catalytic subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-alpha-D-glucosaminyl-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (glucosaminyl acyl phosphatidylinositol, GlcN-(acyl)PI) intermediate to generate 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) and participates in the sixth step of the glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:11226175}.
uniprot
proteins
mass_dalton
49460
uniprot
proteins
mutagenesis
MUTAGEN 49; /note="D->A: Almost abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:11226175"; MUTAGEN 51; /note="D->A: Abolishes enzyme activity."; /evidence="ECO:0000269|PubMed:11226175
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:11226175}.
uniprot
proteins
protein_family
PIGM family
uniprot
proteins
pubmed
11226175
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16767100
uniprot
proteins
pubmed
31445883
uniprot
proteins
sequence_length
423
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11226175}; Multi-pass membrane protein {ECO:0000269|PubMed:11226175}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..38; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 80..100; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 139..161; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 226..246; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 288..308; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 315..337; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 339..350; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 358..378; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 385..405; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins