PGAP2
entrez
27315
canonical
uniprot
Q9UHJ9
canonical
ensembl
ENSG00000148985
resolver
ensp
ENSP00000278243
resolver
ensp
ENSP00000300730
resolver
ensp
ENSP00000380183
resolver
ensp
ENSP00000380188
resolver
ensp
ENSP00000431851
resolver
ensp
ENSP00000433377
resolver
ensp
ENSP00000434088
resolver
ensp
ENSP00000434401
resolver
ensp
ENSP00000434507
resolver
ensp
ENSP00000434631
resolver
ensp
ENSP00000435223
resolver
ensp
ENSP00000534305
resolver
ensp
ENSP00000534308
resolver
ensp
ENSP00000623503
resolver
ensp
ENSP00000677916
resolver
ensp
ENSP00000677919
resolver
ensp
ENSP00000677922
resolver
ensp
ENSP00000727183
resolver
ensp
ENSP00000727186
resolver
enst
ENST00000396986
resolver
enst
ENST00000396991
resolver
enst
ENST00000464261
resolver
enst
ENST00000465307
resolver
enst
ENST00000532523
resolver
genesymbol
PGAP2
resolver
genesymbol_syn
FRAG1
resolver
hgnc
HGNC:17893
resolver
uniprot
A0A024RCD5
resolver
uniprot
A0A0A0MS75
resolver
uniprot
A0A0S2Z568
resolver
uniprot
A8MYS5
resolver
uniprot
B7Z2X5
resolver
uniprot
E9PJG5
resolver
uniprot
F6R8M9
resolver
uniprot
H0YDC6
resolver
uniprot
H0YDQ4
resolver
uniprot
H7BXL9
resolver
uniprot
Q6UC77
resolver
uniprot
Q96G66
resolver
uniprot
Q9UF01
resolver
uniprot
Q9Y4N1
resolver
uniprot_entry
A0A024RCD5_HUMAN
resolver
uniprot_entry
A0A0A0MS75_HUMAN
resolver
uniprot_entry
A0A0S2Z568_HUMAN
resolver
uniprot_entry
A8MYS5_HUMAN
resolver
uniprot_entry
B7Z2X5_HUMAN
resolver
uniprot_entry
F6R8M9_HUMAN
resolver
uniprot_entry
H0YDC6_HUMAN
resolver
uniprot_entry
H0YDQ4_HUMAN
resolver
uniprot_entry
PGAP2_HUMAN
resolver
uniprot_sec
E9PJG5
resolver
uniprot_sec
H7BXL9
resolver
uniprot_sec
Q6UC77
resolver
uniprot_sec
Q96G66
resolver
uniprot_sec
Q9UF01
resolver
uniprot_sec
Q9Y4N1
resolver
amino_acid_sequence
MYQVPLPLDRDGTLVRLRFTMVALVTVCCPLVAFLFCILWSLLFHFKETTATHCGVPNYLPSVSSAIGGEVPQRYVWRFCIGLHSAPRFLVAFAYWNHYLSCTSPCSCYRPLCRLNFGLNVVENLALLVLTYVSSSEDFTIHENAFIVFIASSLGHMLLTCILWRLTKKHTVSQEDRKSYSWKQRLFIINFISFFSALAVYFRHNMYCEAGVYTIFAILEYTVVLTNMAFHMTAWWDFGNKELLITSQPEEKRF
uniprot
proteins
disease_involvement
DISEASE: Hyperphosphatasia with impaired intellectual development syndrome 3 (HPMRS3) [MIM:614207]: An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. {ECO:0000269|PubMed:23561846, ECO:0000269|PubMed:23561847}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.-.-
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. May catalyze the second step of the fatty acid remodeling, by reacylating a lyso-GPI intermediate at sn-2 of inositol phosphate by a saturated chain (By similarity). The fatty acid remodeling steps is critical for the integration of GPI-APs into lipid rafts (PubMed:23561846). {ECO:0000250|UniProtKB:Q2ABP2, ECO:0000269|PubMed:23561846}.
uniprot
proteins
mass_dalton
29400
uniprot
proteins
protein_family
PGAP2 family
uniprot
proteins
pubmed
10585768
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23561846
uniprot
proteins
pubmed
23561847
uniprot
proteins
pubmed
37198333
uniprot
proteins
sequence_length
254
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10585768, ECO:0000269|Ref.2}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 24..44; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 115..135; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 144..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 186..206; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 210..230; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins