PIGT
entrez
51604
canonical
uniprot
Q969N2
canonical
ensembl
ENSG00000124155
resolver
ensp
ENSP00000279035
resolver
ensp
ENSP00000279036
resolver
ensp
ENSP00000361774
resolver
ensp
ENSP00000441577
resolver
genesymbol
PIGT
resolver
hgnc
HGNC:14938
resolver
uniprot
B2RND5
resolver
uniprot
B7Z3N1
resolver
uniprot
B7Z7I8
resolver
uniprot
E1P622
resolver
uniprot
G8JLF5
resolver
uniprot
Q2NL69
resolver
uniprot
Q7Z3N7
resolver
uniprot
Q9BQY7
resolver
uniprot
Q9BQY8
resolver
uniprot
Q9UJG6
resolver
uniprot
Q9Y2Z5
resolver
uniprot_entry
PIGT_HUMAN
resolver
uniprot_sec
B2RND5
resolver
uniprot_sec
B7Z3N1
resolver
uniprot_sec
B7Z7I8
resolver
uniprot_sec
E1P622
resolver
uniprot_sec
G8JLF5
resolver
uniprot_sec
Q2NL69
resolver
uniprot_sec
Q7Z3N7
resolver
uniprot_sec
Q9BQY7
resolver
uniprot_sec
Q9BQY8
resolver
uniprot_sec
Q9UJG6
resolver
uniprot_sec
Q9Y2Z5
resolver
amino_acid_sequence
MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQREGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTVTDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREVVCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQTLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPPTTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSGYGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQDRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVAAKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCYGSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL
uniprot
proteins
disease_involvement
DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]: An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. {ECO:0000269|PubMed:23636107, ECO:0000269|PubMed:24906948, ECO:0000269|PubMed:25943031, ECO:0000269|PubMed:27916860, ECO:0000269|PubMed:28327575, ECO:0000269|PubMed:28728837, ECO:0000269|PubMed:29868109, ECO:0000269|PubMed:30813157, ECO:0000269|PubMed:30976099, ECO:0000269|PubMed:32220244, ECO:0000269|PubMed:32404165, ECO:0000269|PubMed:32725661, ECO:0000269|PubMed:34046058, ECO:0000269|PubMed:34162574, ECO:0000269|PubMed:36970549}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Paroxysmal nocturnal hemoglobinuria 2 (PNH2) [MIM:615399]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269|PubMed:23733340}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:11483512, PubMed:12582175, PubMed:28327575, PubMed:34576938, PubMed:35165458, PubMed:35551457, PubMed:36970549, PubMed:37684232). May play a crucial role in GPI-T complex assembly in the luminal layer (PubMed:35165458, PubMed:35551457). Binds GPI-anchor (PubMed:37684232). {ECO:0000269|PubMed:11483512, ECO:0000269|PubMed:12582175, ECO:0000269|PubMed:28327575, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:36970549, ECO:0000269|PubMed:37684232}.
uniprot
proteins
mass_dalton
65700
uniprot
proteins
mutagenesis
MUTAGEN 38; /note="P->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 92; /note="G->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 129; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 135..136; /note="SG->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 139; /note="C->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 146; /note="D->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 164; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 182; /note="C->S: Decreased function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:12582175, ECO:0000269|PubMed:34576938"; MUTAGEN 184; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 190..191; /note="KK->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 291; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 327; /note="N->Q: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 396; /note="Y->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 429; /note="E->A: Decreased function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 455; /note="E->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 459; /note="D->A: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938"; MUTAGEN 521; /note="D->A: Decreases the GPI-anchor transamidase activity to 28.9%,."; /evidence="ECO:0000269|PubMed:35551457"; MUTAGEN 521; /note="D->L: Decreases the GPI-anchor transamidase activity to 18.8%. Almost abolishes the GPI-anchor transamidase activity to 6.2%; when associated with F-523."; /evidence="ECO:0000269|PubMed:35551457"; MUTAGEN 523; /note="S->F: Decreases the GPI-anchor transamidase activity to 76.5% Almost abolishes the GPI-anchor transamidase activity to 6.2%; when associated with L-521."; /evidence="ECO:0000269|PubMed:35551457"; MUTAGEN 523; /note="S->W: Decreases the GPI-anchor transamidase activity to 76.8%."; /evidence="ECO:0000269|PubMed:35551457"; MUTAGEN 528..529; /note="VI->AA: No effect on function in GPI-anchor attachment to protein."; /evidence="ECO:0000269|PubMed:34576938
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:11483512, ECO:0000269|PubMed:12582175, ECO:0000269|PubMed:28327575, ECO:0000269|PubMed:34576938, ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0000269|PubMed:36970549, ECO:0000269|PubMed:37684232}.
uniprot
proteins
post_translational_modification
PTM: The disulfide bond between PIGK/GPI8 and PIGT is important for normal enzyme activity. {ECO:0000269|PubMed:12582175, ECO:0000269|PubMed:35551457}.
uniprot
proteins
protein_family
PIGT family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11483512
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12582175
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23636107
uniprot
proteins
pubmed
23733340
uniprot
proteins
pubmed
24906948
uniprot
proteins
pubmed
25943031
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27916860
uniprot
proteins
pubmed
28327575
uniprot
proteins
pubmed
28728837
uniprot
proteins
pubmed
29868109
uniprot
proteins
pubmed
30813157
uniprot
proteins
pubmed
30976099
uniprot
proteins
pubmed
32220244
uniprot
proteins
pubmed
32404165
uniprot
proteins
pubmed
32725661
uniprot
proteins
pubmed
34046058
uniprot
proteins
pubmed
34162574
uniprot
proteins
pubmed
34576938
uniprot
proteins
pubmed
35165458
uniprot
proteins
pubmed
35551457
uniprot
proteins
pubmed
36970549
uniprot
proteins
pubmed
37684232
uniprot
proteins
sequence_length
578
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305|PubMed:35165458, ECO:0000305|PubMed:35551457}; Single-pass type I membrane protein {ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457}.
uniprot
proteins
transmembrane_region
TRANSMEM 526..548; /note="Helical"; /evidence="ECO:0000269|PubMed:35165458, ECO:0000269|PubMed:35551457, ECO:0007744|PDB:7W72, ECO:0007744|PDB:7WLD
uniprot
proteins