PIGG
entrez
54872
canonical
uniprot
Q5H8A4
canonical
ensembl
ENSG00000174227
resolver
ensp
ENSP00000311750
resolver
ensp
ENSP00000372494
resolver
ensp
ENSP00000415203
resolver
ensp
ENSP00000421550
resolver
ensp
ENSP00000424619
resolver
ensp
ENSP00000424800
resolver
ensp
ENSP00000426002
resolver
ensp
ENSP00000707539
resolver
ensp
ENSP00000707544
resolver
ensp
ENSP00000707548
resolver
ensp
ENSP00000776737
resolver
ensp
ENSP00000786464
resolver
ensp
ENSP00000796137
resolver
ensp
ENSP00000796139
resolver
ensp
ENSP00000796141
resolver
ensp
ENSP00000796142
resolver
enst
ENST00000504346
resolver
enst
ENST00000506402
resolver
enst
ENST00000509768
resolver
genesymbol
PIGG
resolver
genesymbol_syn
GPI7
resolver
hgnc
HGNC:25985
resolver
uniprot
B4DKC7
resolver
uniprot
D6RFE8
resolver
uniprot
E7EM50
resolver
uniprot
E7EWV1
resolver
uniprot
Q2TAK5
resolver
uniprot
Q6UX31
resolver
uniprot
Q7L5Y4
resolver
uniprot
Q8N866
resolver
uniprot
Q8NCC9
resolver
uniprot
Q8NCI4
resolver
uniprot
Q96SY9
resolver
uniprot
Q9BVT7
resolver
uniprot
Q9NXG5
resolver
uniprot_entry
D6RFE8_HUMAN
resolver
uniprot_entry
E7EM50_HUMAN
resolver
uniprot_entry
E7EWV1_HUMAN
resolver
uniprot_entry
PIGG_HUMAN
resolver
uniprot_entry
Q8NCI4_HUMAN
resolver
uniprot_sec
B4DKC7
resolver
uniprot_sec
Q2TAK5
resolver
uniprot_sec
Q6UX31
resolver
uniprot_sec
Q7L5Y4
resolver
uniprot_sec
Q8N866
resolver
uniprot_sec
Q8NCC9
resolver
uniprot_sec
Q96SY9
resolver
uniprot_sec
Q9BVT7
resolver
uniprot_sec
Q9NXG5
resolver
amino_acid_sequence
MRLGSGTFATCCVAIEVLGIAVFLRGFFPAPVRSSARAEHGAEPPAPEPSAGASSNWTTLPPPLFSKVVIVLIDALRDDFVFGSKGVKFMPYTTYLVEKGASHSFVAEAKPPTVTMPRIKALMTGSLPGFVDVIRNLNSPALLEDSVIRQAKAAGKRIVFYGDETWVKLFPKHFVEYDGTTSFFVSDYTEVDNNVTRHLDKVLKRGDWDILILHYLGLDHIGHISGPNSPLIGQKLSEMDSVLMKIHTSLQSKERETPLPNLLVLCGDHGMSETGSHGASSTEEVNTPLILISSAFERKPGDIRHPKHVQQTDVAATLAIALGLPIPKDSVGSLLFPVVEGRPMREQLRFLHLNTVQLSKLLQENVPSYEKDPGFEQFKMSERLHGNWIRLYLEEKHSEVLFNLGSKVLRQYLDALKTLSLSLSAQVAQYDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAELEVPLSSPGFSLLFYLVILVLSAVHVIVCTSAESSCYFCGLSWLAAGGVMVLASALLCVIVSVLTNVLVGGNTPRKNPMHPSSRWSELDLLILLGTAGHVLSLGASSFVEEEHQTWYFLVNTLCLALSQETYRNYFLGDDGEPPCGLCVEQGHDGATAAWQDGPGCDVLERDKGHGSPSTSEVLRGREKWMVLASPWLILACCRLLRSLNQTGVQWAHRPDLGHWLTSSDHKAELSVLAALSLLVVFVLVQRGCSPVSKAALALGLLGVYCYRAAIGSVRFPWRPDSKDISKGIIEARFVYVFVLGILFTGTKDLLKSQVIAADFKLKTVGLWEIYSGLVLLAALLFRPHNLPVLAFSLLIQTLMTKFIWKPLRHDAAEITVMHYWFGQAFFYFQGNSNNIATVDISAGFVGLDTYVEIPAVLLTAFGTYAGPVLWASHLVHFLSSETRSGSALSHACFCYALICSIPVFTYIVLVTSLRYHLFIWSVFSPKLLYEGMHLLITAAVCVFFTAMDQTRLTQS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy (NEDHSCA) [MIM:616917]: An autosomal recessive disorder characterized by delayed psychomotor development, hypotonia, and early-onset seizures in most patients. Additional variable features are cerebellar atrophy, ataxia, and non-specific dysmorphic features. Some patients may have the Emm-null blood group phenotype. {ECO:0000269|PubMed:26996948, ECO:0000269|PubMed:28581210, ECO:0000269|PubMed:33763700, ECO:0000269|PubMed:34113002}. 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 2 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the second alpha-1,6-linked mannose of 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) intermediate to generate a 2-acyl-6-[6-phosphoethanolamine-alpha-D-mannosyl-(1->2)-6-phosphoethanolamine-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 H8) and participates in the eleventh step of the glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:33763700, ECO:0000269|PubMed:34113002, ECO:0000305|PubMed:15632136, ECO:0000305|PubMed:26996948}.
uniprot
proteins
mass_dalton
108173
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:15632136, ECO:0000269|PubMed:26996948}.
uniprot
proteins
protein_family
PIGG subfamily
uniprot
proteins
protein_family
PIGG/PIGN/PIGO family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15632136
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
26996948
uniprot
proteins
pubmed
28581210
uniprot
proteins
pubmed
33763700
uniprot
proteins
pubmed
34113002
uniprot
proteins
pubmed
34535746
uniprot
proteins
sequence_length
983
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15632136}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 432..452; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 471..491; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 506..526; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 552..572; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 699..719; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 721..741; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 752..772; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 789..809; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 812..832; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 879..899; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 919..939; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 955..975; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins