PIGL
entrez
9487
canonical
uniprot
Q9Y2B2
canonical
ensembl
ENSG00000108474
resolver
ensp
ENSP00000225609
resolver
ensp
ENSP00000379185
resolver
ensp
ENSP00000786735
resolver
enst
ENST00000395844
resolver
genesymbol
PIGL
resolver
hgnc
HGNC:8966
resolver
uniprot
A8KA67
resolver
uniprot
A8MTV0
resolver
uniprot
B4DYN4
resolver
uniprot_entry
A8MTV0_HUMAN
resolver
uniprot_entry
PIGL_HUMAN
resolver
uniprot_sec
A8KA67
resolver
uniprot_sec
B4DYN4
resolver
amino_acid_sequence
MEAMWLLCVALAVLAWGFLWVWDSSERMKSREQGGRLGAESRTLLVIAHPDDEAMFFAPTVLGLARLRHWVYLLCFSAGNYYNQGETRKKELLQSCDVLGIPLSSVMIIDNRDFPDDPGMQWDTEHVARVLLQHIEVNGINLVVTFDAGGVSGHSNHIALYAAVRALHSEGKLPKGCSVLTLQSVNVLRKYISLLDLPLSLLHTQDVLFVLNSKEVAQAKKAMSCHRSQLLWFRRLYIIFSRYMRINSLSFL
uniprot
proteins
disease_involvement
DISEASE: Coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome (CHIME) [MIM:280000]: An extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties. {ECO:0000269|PubMed:22444671, ECO:0000269|PubMed:29473937, ECO:0000269|PubMed:35258128, ECO:0000269|PubMed:39641205}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.5.1.89
uniprot
proteins
function
FUNCTION: Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol. {ECO:0000269|PubMed:14742432, ECO:0000305|PubMed:10085243}.
uniprot
proteins
mass_dalton
28531
uniprot
proteins
pathway_participation
PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. {ECO:0000269|PubMed:10085243}.
uniprot
proteins
protein_family
PIGL family
uniprot
proteins
pubmed
10085243
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14742432
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
22444671
uniprot
proteins
pubmed
29473937
uniprot
proteins
pubmed
35258128
uniprot
proteins
pubmed
39641205
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10085243, ECO:0000269|PubMed:14742432}; Single-pass type I membrane protein {ECO:0000269|PubMed:14742432}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..22; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins