PGAP3
entrez
93210
canonical
uniprot
Q96FM1
canonical
ensembl
ENSG00000161395
resolver
ensp
ENSP00000300658
resolver
ensp
ENSP00000367250
resolver
ensp
ENSP00000415765
resolver
ensp
ENSP00000463011
resolver
ensp
ENSP00000463234
resolver
ensp
ENSP00000675689
resolver
ensp
ENSP00000675692
resolver
ensp
ENSP00000736711
resolver
enst
ENST00000579146
resolver
genesymbol
PGAP3
resolver
genesymbol_syn
CAB2
resolver
genesymbol_syn
PERLD1
resolver
hgnc
HGNC:23719
resolver
uniprot
A8K0P7
resolver
uniprot
B4DGK7
resolver
uniprot
J3QKU0
resolver
uniprot
Q86Z03
resolver
uniprot
Q8NBJ8
resolver
uniprot_entry
A8K0P7_HUMAN
resolver
uniprot_entry
J3QKU0_HUMAN
resolver
uniprot_entry
PGAP3_HUMAN
resolver
uniprot_sec
B4DGK7
resolver
uniprot_sec
Q86Z03
resolver
uniprot_sec
Q8NBJ8
resolver
amino_acid_sequence
MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWVTVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAWFWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNLVANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFSFLEDDSLYLLKESEDKFKLD
uniprot
proteins
disease_involvement
DISEASE: Hyperphosphatasia with impaired intellectual development syndrome 4 (HPMRS4) [MIM:615716]: An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. {ECO:0000269|PubMed:24439110}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.1.-
uniprot
proteins
function
FUNCTION: Involved in the fatty acid remodeling steps of GPI-anchor maturation where the unsaturated acyl chain at sn-2 of inositol phosphate is replaced by a saturated stearoyl chain (PubMed:17021251, PubMed:24439110). May catalyze the first step of the fatty acid remodeling, by removing the unsaturated acyl chain at sn-2 of inositol phosphate, generating a lyso-GPI intermediate (Probable). The fatty acid remodeling steps is critical for the integration of GPI-APs into lipid rafts (By similarity). {ECO:0000250|UniProtKB:A2V7M9, ECO:0000269|PubMed:17021251, ECO:0000269|PubMed:24439110, ECO:0000305|PubMed:24439110}.
uniprot
proteins
mass_dalton
36475
uniprot
proteins
protein_family
PGAP3 family
uniprot
proteins
pubmed
12460457
uniprot
proteins
pubmed
12739007
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
17021251
uniprot
proteins
pubmed
24439110
uniprot
proteins
pubmed
29620724
uniprot
proteins
sequence_length
320
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:24439110, ECO:0000305|PubMed:12460457}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 99..119; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 136..156; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 170..190; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 194..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 225..245; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 258..278; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 280..299; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins