PGAP4
entrez
84302
canonical
uniprot
Q9BRR3
canonical
ensembl
ENSG00000165152
resolver
ensp
ENSP00000363980
resolver
ensp
ENSP00000363981
resolver
ensp
ENSP00000363984
resolver
ensp
ENSP00000521164
resolver
ensp
ENSP00000521165
resolver
ensp
ENSP00000521166
resolver
ensp
ENSP00000521167
resolver
ensp
ENSP00000521168
resolver
ensp
ENSP00000521169
resolver
ensp
ENSP00000521170
resolver
ensp
ENSP00000615569
resolver
enst
ENST00000374847
resolver
enst
ENST00000374848
resolver
enst
ENST00000374851
resolver
enst
ENST00000851105
resolver
enst
ENST00000851106
resolver
enst
ENST00000851107
resolver
enst
ENST00000851108
resolver
enst
ENST00000851109
resolver
enst
ENST00000851110
resolver
enst
ENST00000851111
resolver
enst
ENST00000945510
resolver
genesymbol
PGAP4
resolver
genesymbol_syn
C9orf125
resolver
genesymbol_syn
TMEM246
resolver
hgnc
HGNC:28180
resolver
uniprot
Q49AQ4
resolver
uniprot_entry
PGAP4_HUMAN
resolver
uniprot_sec
Q49AQ4
resolver
amino_acid_sequence
MSTSTSPAAMLLRRLRRLSWGSTAVQLFILTVVTFGLLAPLACHRLLHSYFYLRHWHLNQMSQEFLQQSLKEGEAALHYFEELPSANGSVPIVWQATPRPWLVITIITVDRQPGFHYVLQVVSQFHRLLQQCGPQCEGHQLFLCNVERSVSHFDAKLLSKYVPVANRYEGTEDDYGDDPSTNSFEKEKQDYVYCLESSLQTYNPDYVLMVEDDAVPEEQIFPVLEHLLRARFSEPHLRDALYLKLYHPERLQHYINPEPMRILEWVGVGMLLGPLLTWIYMRFASRPGFSWPVMLFFSLYSMGLVELVGRHYFLELRRLSPSLYSVVPASQCCTPAMLFPAPAARRTLTYLSQVYCHKGFGKDMALYSLLRAKGERAYVVEPNLVKHIGLFSSLRYNFHPSLL
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Golgi-resident glycosylphosphatidylinositol (GPI)-N-acetylgalactosamine transferase that catalyzes the N-acetyl-beta-D-galactosamine transfer from an UDP-N-acetyl-alpha-D-galactosamine to the 4-OH-position of the first mannose of the glycosylphosphatidylinositol (GPI) of a GPI-anchored protein (GPI-AP) (PubMed:29374258). This modification occurs after the fatty acid remodeling step of the GPI-anchor maturation (PubMed:29374258). {ECO:0000269|PubMed:29374258}.
uniprot
proteins
mass_dalton
46588
uniprot
proteins
mutagenesis
MUTAGEN 87; /note="N->A: Loss of glycosylation. Not glycosylated; when associated with N-283. Glycosylated; when associated with N-347."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 109; /note="V->A: Reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 211; /note="E->A: Loss of GPI-GalNAc transferase activity."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 213; /note="D->A: Loss of GPI-GalNAc transferase activity."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 247; /note="H->A: Reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 249; /note="E->A: Slightly reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 260; /note="M->A: No effect on GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 270; /note="M->A: No effect on GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 283; /note="F->N: Not glycosylated; when associated with A-87."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 302; /note="M->A: No effect on GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 311; /note="H->A: No effect on GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 313; /note="F->A: Reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 317; /note="R->A: Strongly reduces GPI-GalNAc transferase activity. Accumulates in the endoplasmic reticulum."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 334; /note="T->A: Almost abolishes GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 335; /note="P->A: Reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 347; /note="T->N: Glycosylated; when associated with A-87."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 362; /note="K->A: Reduces GPI-GalNAc transferase activity. No effect on Golgi apparatus membrane location."; /evidence="ECO:0000269|PubMed:29374258"; MUTAGEN 363; /note="D->A: Loss of GPI-GalNAc transferase activity."; /evidence="ECO:0000269|PubMed:29374258
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:29374258}.
uniprot
proteins
protein_family
PGAP4 family
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
29374258
uniprot
proteins
sequence_length
403
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:29374258}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 23..43; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 260..280; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 288..308; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins