PIGN
entrez
23556
canonical
uniprot
O95427
canonical
ensembl
ENSG00000197563
resolver
ensp
ENSP00000350263
resolver
ensp
ENSP00000383188
resolver
ensp
ENSP00000490965
resolver
ensp
ENSP00000491013
resolver
ensp
ENSP00000491525
resolver
ensp
ENSP00000491549
resolver
ensp
ENSP00000491620
resolver
ensp
ENSP00000491628
resolver
ensp
ENSP00000491963
resolver
ensp
ENSP00000492051
resolver
ensp
ENSP00000492233
resolver
ensp
ENSP00000492592
resolver
ensp
ENSP00000492783
resolver
ensp
ENSP00000528672
resolver
ensp
ENSP00000528674
resolver
ensp
ENSP00000528675
resolver
ensp
ENSP00000528677
resolver
ensp
ENSP00000528680
resolver
ensp
ENSP00000632998
resolver
ensp
ENSP00000633001
resolver
ensp
ENSP00000633002
resolver
ensp
ENSP00000644165
resolver
enst
ENST00000357637
resolver
enst
ENST00000400334
resolver
enst
ENST00000638167
resolver
enst
ENST00000638183
resolver
enst
ENST00000638936
resolver
enst
ENST00000639902
resolver
enst
ENST00000640050
resolver
enst
ENST00000640145
resolver
enst
ENST00000640252
resolver
enst
ENST00000640540
resolver
enst
ENST00000640876
resolver
enst
ENST00000858613
resolver
enst
ENST00000858616
resolver
enst
ENST00000858618
resolver
enst
ENST00000858621
resolver
enst
ENST00000962939
resolver
enst
ENST00000962942
resolver
enst
ENST00000962943
resolver
genesymbol
PIGN
resolver
genesymbol_syn
MCD4
resolver
hgnc
HGNC:8967
resolver
uniprot
A0A1W2PNR0
resolver
uniprot
A0A1W2PPR7
resolver
uniprot
A0A1W2PQA9
resolver
uniprot
Q7L8F8
resolver
uniprot
Q8TC01
resolver
uniprot
Q9NT05
resolver
uniprot_entry
A0A1W2PNR0_HUMAN
resolver
uniprot_entry
A0A1W2PPR7_HUMAN
resolver
uniprot_entry
A0A1W2PQA9_HUMAN
resolver
uniprot_entry
PIGN_HUMAN
resolver
uniprot_sec
Q7L8F8
resolver
uniprot_sec
Q8TC01
resolver
uniprot_sec
Q9NT05
resolver
amino_acid_sequence
MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRAPFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPDILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHLLGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETLTPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLNNTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSLCKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVAIGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVLSFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLLSLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPLLSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYNTDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFVLVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNGLAQLLTTKKLRLCGKPKSHFM
uniprot
proteins
disease_involvement
DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269|PubMed:21493957}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.-.-.-
uniprot
proteins
function
FUNCTION: Ethanolamine phosphate transferase that catalyzes an ethanolamine phosphate (EtNP) transfer from phosphatidylethanolamine (PE) to the 2-OH position of the first alpha-1,4-linked mannose of a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol and participates in the eighth step of the glycosylphosphatidylinositol-anchor biosynthesis (By similarity). Also transfers the EtNP on a mannosyl GPI intermediate, 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) (By similarity). May act as suppressor of replication stress and chromosome missegregation (PubMed:23446422). {ECO:0000250|UniProtKB:Q9R1S3, ECO:0000269|PubMed:23446422}.
uniprot
proteins
mass_dalton
105810
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000250|UniProtKB:Q9R1S3}.
uniprot
proteins
protein_family
PIGG/PIGN/PIGO family
uniprot
proteins
protein_family
PIGN subfamily
uniprot
proteins
pubmed
10069808
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21493957
uniprot
proteins
pubmed
23446422
uniprot
proteins
sequence_length
931
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9R1S3}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 443..463; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 483..503; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 509..529; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 544..564; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 566..586; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 592..612; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 619..639; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 650..670; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 686..706; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 724..744; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 787..807; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 825..845; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 859..879; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 895..915; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins