PIGO
entrez
84720
canonical
uniprot
Q8TEQ8
canonical
ensembl
ENSG00000165282
resolver
ensp
ENSP00000298004
resolver
ensp
ENSP00000354678
resolver
ensp
ENSP00000367880
resolver
ensp
ENSP00000577172
resolver
ensp
ENSP00000726300
resolver
genesymbol
PIGO
resolver
hgnc
HGNC:23215
resolver
uniprot
B1AML3
resolver
uniprot
Q6P154
resolver
uniprot
Q6UX80
resolver
uniprot
Q8TDS8
resolver
uniprot
Q96CS9
resolver
uniprot
Q9BVN9
resolver
uniprot
Q9Y4B0
resolver
uniprot_entry
PIGO_HUMAN
resolver
uniprot_sec
B1AML3
resolver
uniprot_sec
Q6P154
resolver
uniprot_sec
Q6UX80
resolver
uniprot_sec
Q8TDS8
resolver
uniprot_sec
Q96CS9
resolver
uniprot_sec
Q9BVN9
resolver
uniprot_sec
Q9Y4B0
resolver
amino_acid_sequence
MQKASVLLFLAWVCFLFYAGIALFTSGFLLTRLELTNHSSCQEPPGPGSLPWGSQGKPGACWMASRFSRVVLVLIDALRFDFAQPQHSHVPREPPVSLPFLGKLSSLQRILEIQPHHARLYRSQVDPPTTTMQRLKALTTGSLPTFIDAGSNFASHAIVEDNLIKQLTSAGRRVVFMGDDTWKDLFPGAFSKAFFFPSFNVRDLDTVDNGILEHLYPTMDSGEWDVLIAHFLGVDHCGHKHGPHHPEMAKKLSQMDQVIQGLVERLENDTLLVVAGDHGMTTNGDHGGDSELEVSAALFLYSPTAVFPSTPPEEPEVIPQVSLVPTLALLLGLPIPFGNIGEVMAELFSGGEDSQPHSSALAQASALHLNAQQVSRFLHTYSAATQDLQAKELHQLQNLFSKASADYQWLLQSPKGAEATLPTVIAELQQFLRGARAMCIESWARFSLVRMAGGTALLAASCFICLLASQWAISPGFPFCPLLLTPVAWGLVGAIAYAGLLGTIELKLDLVLLGAVAAVSSFLPFLWKAWAGWGSKRPLATLFPIPGPVLLLLLFRLAVFFSDSFVVAEARATPFLLGSFILLLVVQLHWEGQLLPPKLLTMPRLGTSATTNPPRHNGAYALRLGIGLLLCTRLAGLFHRCPEETPVCHSSPWLSPLASMVGGRAKNLWYGACVAALVALLAAVRLWLRRYGNLKSPEPPMLFVRWGLPLMALGTAAYWALASGADEAPPRLRVLVSGASMVLPRAVAGLAASGLALLLWKPVTVLVKAGAGAPRTRTVLTPFSGPPTSQADLDYVVPQIYRHMQEEFRGRLERTKSQGPLTVAAYQLGSVYSAAMVTALTLLAFPLLLLHAERISLVFLLLFLQSFLLLHLLAAGIPVTTPGPFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGFPEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCESQGLRKRQQPPGNEADARVRPEEEEEPLMEMRLRDAPQHFYAALLQLGLKYLFILGIQILACALAASILRRHLMVWKVFAPKFIFEAVGFIVSSVGLLLGIALVMRVDGAVSSWFRQLFLAQQR
uniprot
proteins
disease_involvement
DISEASE: Hyperphosphatasia with impaired intellectual development syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. {ECO:0000269|PubMed:22683086, ECO:0000269|PubMed:24049131, ECO:0000269|PubMed:28337824, ECO:0000269|PubMed:28545593}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.-.-.-
uniprot
proteins
function
FUNCTION: Catalytic subunit of the ethanolamine phosphate transferase 3 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the third alpha-1,2-linked mannose of the a 2-acyl-6-[alpha-D-mannosyl-(1->2)-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 (also termed H6) intermediate to generate a a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-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 (also termed H7) and participates in the tenth step of the glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000305|PubMed:24049131, ECO:0000305|PubMed:24417746, ECO:0000305|PubMed:28337824}.
uniprot
proteins
mass_dalton
118699
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:24049131, ECO:0000269|PubMed:24417746, ECO:0000269|PubMed:28337824}.
uniprot
proteins
protein_family
PIGG/PIGN/PIGO family
uniprot
proteins
protein_family
PIGO subfamily
uniprot
proteins
pubmed
12044878
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22683086
uniprot
proteins
pubmed
24049131
uniprot
proteins
pubmed
24417746
uniprot
proteins
pubmed
28337824
uniprot
proteins
pubmed
28545593
uniprot
proteins
pubmed
28900819
uniprot
proteins
sequence_length
1089
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9JJI6}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 4..24; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 457..477; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 482..502; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 510..530; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 541..561; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 575..595; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 668..688; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 701..721; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 747..767; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 830..850; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 857..877; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 944..964; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1014..1034; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 1048..1068; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins