PIGV
entrez
55650
canonical
uniprot
Q9NUD9
canonical
ensembl
ENSG00000060642
resolver
ensp
ENSP00000078527
resolver
ensp
ENSP00000363260
resolver
ensp
ENSP00000406080
resolver
ensp
ENSP00000501335
resolver
ensp
ENSP00000501446
resolver
ensp
ENSP00000501479
resolver
ensp
ENSP00000501527
resolver
ensp
ENSP00000508665
resolver
ensp
ENSP00000508720
resolver
ensp
ENSP00000509240
resolver
ensp
ENSP00000509280
resolver
ensp
ENSP00000510357
resolver
ensp
ENSP00000558473
resolver
ensp
ENSP00000558474
resolver
ensp
ENSP00000558475
resolver
ensp
ENSP00000558476
resolver
ensp
ENSP00000558477
resolver
ensp
ENSP00000558478
resolver
ensp
ENSP00000558479
resolver
ensp
ENSP00000601687
resolver
ensp
ENSP00000601688
resolver
ensp
ENSP00000601689
resolver
ensp
ENSP00000601690
resolver
ensp
ENSP00000601691
resolver
ensp
ENSP00000601692
resolver
ensp
ENSP00000640607
resolver
ensp
ENSP00000640608
resolver
ensp
ENSP00000640610
resolver
ensp
ENSP00000640611
resolver
enst
ENST00000078527
resolver
enst
ENST00000374145
resolver
enst
ENST00000455364
resolver
enst
ENST00000674202
resolver
enst
ENST00000674222
resolver
enst
ENST00000674273
resolver
enst
ENST00000674335
resolver
enst
ENST00000686194
resolver
enst
ENST00000688522
resolver
enst
ENST00000688730
resolver
enst
ENST00000691135
resolver
enst
ENST00000693629
resolver
enst
ENST00000888414
resolver
enst
ENST00000888415
resolver
enst
ENST00000888416
resolver
enst
ENST00000888417
resolver
enst
ENST00000888418
resolver
enst
ENST00000888419
resolver
enst
ENST00000888420
resolver
enst
ENST00000931628
resolver
enst
ENST00000931629
resolver
enst
ENST00000931630
resolver
enst
ENST00000931631
resolver
enst
ENST00000931632
resolver
enst
ENST00000931633
resolver
enst
ENST00000970548
resolver
enst
ENST00000970549
resolver
enst
ENST00000970551
resolver
enst
ENST00000970552
resolver
genesymbol
PIGV
resolver
hgnc
HGNC:26031
resolver
uniprot
A0A6I8PU65
resolver
uniprot
A0A8I5KQ29
resolver
uniprot
A0A8I5KRV8
resolver
uniprot
D3DPL2
resolver
uniprot
Q5JYG7
resolver
uniprot
Q5JYG8
resolver
uniprot
Q5JYG9
resolver
uniprot
Q9NX26
resolver
uniprot_entry
A0A6I8PU65_HUMAN
resolver
uniprot_entry
A0A8I5KQ29_HUMAN
resolver
uniprot_entry
A0A8I5KRV8_HUMAN
resolver
uniprot_entry
PIGV_HUMAN
resolver
uniprot_sec
D3DPL2
resolver
uniprot_sec
Q5JYG7
resolver
uniprot_sec
Q5JYG8
resolver
uniprot_sec
Q5JYG9
resolver
uniprot_sec
Q9NX26
resolver
amino_acid_sequence
MWPQDPSRKEVLRFAVSCRILTLMLQALFNAIIPDHHAEAFSPPRLAPSGFVDQLVEGLLGGLSHWDAEHFLFIAEHGYLYEHNFAFFPGFPLALLVGTELLRPLRGLLSLRSCLLISVASLNFLFFMLAAVALHDLGCLVLHCPHQSFYAALLFCLSPANVFLAAGYSEALFALLTFSAMGQLERGRVWTSVLLFAFATGVRSNGLVSVGFLMHSQCQGFFSSLTMLNPLRQLFKLMASLFLSVFTLGLPFALFQYYAYTQFCLPGSARPIPEPLVQLAVDKGYRIAEGNEPPWCFWDVPLIYSYIQDVYWNVGFLKYYELKQVPNFLLAAPVAILVAWATWTYVTTHPWLCLTLGLQRSKNNKTLEKPDLGFLSPQVFVYVVHAAVLLLFGGLCMHVQVLTRFLGSSTPIMYWFPAHLLQDQEPLLRSLKTVPWKPLAEDSPPGQKVPRNPIMGLLYHWKTCSPVTRYILGYFLTYWLLGLLLHCNFLPWT
uniprot
proteins
disease_involvement
DISEASE: Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. {ECO:0000269|PubMed:20802478}. 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: Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 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) intermediate to generate 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) and participates in the seventh step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable) (PubMed:15623507). May also transfer the second mannose on a 2-acyl-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 H5), but less effectively (Probable). {ECO:0000269|PubMed:15623507, ECO:0000305|PubMed:15623507, ECO:0000305|PubMed:15720390}.
uniprot
proteins
mass_dalton
55713
uniprot
proteins
mutagenesis
MUTAGEN 66; /note="W->L: Loss of function."; /evidence="ECO:0000269|PubMed:15623507"; MUTAGEN 67; /note="D->A: Loss of function."; /evidence="ECO:0000269|PubMed:15623507"; MUTAGEN 293..294; /note="PP->TA: N-glycosylated due to the creation of an acceptor site for N-glycosylation."; /evidence="ECO:0000269|PubMed:15623507"; MUTAGEN 308; /note="Q->A: Induces a reduces enzyme activity."; /evidence="ECO:0000269|PubMed:15623507"; MUTAGEN 312; /note="W->L: Loss of function."; /evidence="ECO:0000269|PubMed:15623507
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:15623507}.
uniprot
proteins
post_translational_modification
PTM: Not N-glycosylated. {ECO:0000269|PubMed:15623507}.
uniprot
proteins
protein_family
PIGV family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15623507
uniprot
proteins
pubmed
15720390
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
20802478
uniprot
proteins
pubmed
5465362
uniprot
proteins
sequence_length
493
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15623507}; Multi-pass membrane protein {ECO:0000269|PubMed:15623507}.
uniprot
proteins
transmembrane_region
TRANSMEM 14..34; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 78..98; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 114..134; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 137..157; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 162..182; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 193..213; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 235..255; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 328..348; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 379..399; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 470..490; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins