PGAP1
entrez
80055
canonical
uniprot
Q75T13
canonical
ensembl
ENSG00000197121
resolver
ensp
ENSP00000346809
resolver
genesymbol
PGAP1
resolver
hgnc
HGNC:25712
resolver
uniprot
Q4G0R8
resolver
uniprot
Q4ZG47
resolver
uniprot
Q53SM0
resolver
uniprot
Q6AW92
resolver
uniprot
Q6UWV4
resolver
uniprot
Q9HA24
resolver
uniprot_entry
PGAP1_HUMAN
resolver
uniprot_sec
Q4G0R8
resolver
uniprot_sec
Q4ZG47
resolver
uniprot_sec
Q53SM0
resolver
uniprot_sec
Q6AW92
resolver
uniprot_sec
Q6UWV4
resolver
uniprot_sec
Q9HA24
resolver
amino_acid_sequence
MFLHSVNLWNLAFYVFMVFLATLGLWDVFFGFEENKCSMSYMFEYPEYQKIELPKKLAKRYPAYELYLYGEGSYAEEHKILPLTGIPVLFLPGNAGSYKQVRSIGSIALRKAEDIDFKYHFDFFSVNFNEELVALYGGSLQKQTKFVHECIKTILKLYKGQEFAPKSVAIIGHSMGGLVARALLTLKNFKHDLINLLITQATPHVAPVMPLDRFITDFYTTVNNYWILNARHINLTTLSVAGGFRDYQVRSGLTFLPKLSHHTSALSVVSSAVPKTWVSTDHLSIVWCKQLQLTTVRAFFDLIDADTKQITQNSKKKLSVLYHHFIRHPSKHFEENPAIISDLTGTSMWVLVKVSKWTYVAYNESEKIYFTFPLENHRKIYTHVYCQSTMLDTNSWIFACINSTSMCLQGVDLSWKAELLPTIKYLTLRLQDYPSLSHLVVYVPSVRGSKFVVDCEFFKKEKRYIQLPVTHLFSFGLSSRKVVLNTNGLYYNLELLNFGQIYQAFKINVVSKCSAVKEEITSIYRLHIPWSYEDSLTIAQAPSSTEISLKLHIAQPENNTHVALFKMYTSSDCRYEVTVKTSFSQILGQVVRFHGGALPAYVVSNILLAYRGQLYSLFSTGCCLEYATMLDKEAKPYKVDPFVIIIKFLLGYKWFKELWDVLLLPELDAVILTCQSMCFPLISLILFLFGTCTAYWSGLLSSASVRLLSSLWLALKRPSELPKDIKMISPDLPFLTIVLIIVSWTTCGALAILLSYLYYVFKVVHLQASLTTFKNSQPVNPKHSRRSEKKSNHHKDSSIHHLRLSANDAEDSLRMHSTVINLLTWIVLLSMPSLIYWLKNLRYYFKLNPDPCKPLAFILIPTMAILGNTYTVSIKSSKLLKTTSQFPLPLAVGVIAFGSAHLYRLPCFVFIPLLLHALCNFM
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) [MIM:615802]: An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non-specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:24784135}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: GPI inositol-deacylase that catalyzes the remove of the acyl chain linked to the 2-OH position of inositol ring from the GPI-anchored protein (GPI-AP) in the endoplasmic reticulum (PubMed:24784135, PubMed:38167496). Initiates the post-attachment remodeling phase of GPI-AP biogenesis and participates in endoplasmic reticulum (ER)-to-Golgi transport of GPI-anchored protein (PubMed:24784135, PubMed:38167496). {ECO:0000269|PubMed:24784135, ECO:0000269|PubMed:38167496}.
uniprot
proteins
mass_dalton
105383
uniprot
proteins
protein_family
GPI inositol-deacylase family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14734546
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
24784135
uniprot
proteins
pubmed
38167496
uniprot
proteins
sequence_length
922
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q765A7}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q765A7}.
uniprot
proteins
transmembrane_region
TRANSMEM 12..32; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 642..662; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 669..689; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 734..754; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 818..838; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 854..874; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 894..914; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins