PORCN
entrez
64840
canonical
uniprot
Q9H237
canonical
ensembl
ENSG00000102312
resolver
ensp
ENSP00000322304
resolver
ensp
ENSP00000348233
resolver
ensp
ENSP00000352946
resolver
ensp
ENSP00000354978
resolver
ensp
ENSP00000635694
resolver
genesymbol
PORCN
resolver
genesymbol_syn
MG61
resolver
genesymbol_syn
PORC
resolver
genesymbol_syn
PPN
resolver
hgnc
HGNC:17652
resolver
uniprot
B2RBN8
resolver
uniprot
B7ZAR3
resolver
uniprot
Q14829
resolver
uniprot
Q9H234
resolver
uniprot
Q9H235
resolver
uniprot
Q9H236
resolver
uniprot
Q9UJU7
resolver
uniprot_entry
PORCN_HUMAN
resolver
uniprot_sec
B2RBN8
resolver
uniprot_sec
B7ZAR3
resolver
uniprot_sec
Q14829
resolver
uniprot_sec
Q9H234
resolver
uniprot_sec
Q9H235
resolver
uniprot_sec
Q9H236
resolver
uniprot_sec
Q9UJU7
resolver
amino_acid_sequence
MATFSRQEFFQQLLQGCLLPTAQQGLDQIWLLLAICLACRLLWRLGLPSYLKHASTVAGGFFSLYHFFQLHMVWVVLLSLLCYLVLFLCRHSSHRGVFLSVTILIYLLMGEMHMVDTVTWHKMRGAQMIVAMKAVSLGFDLDRGEVGTVPSPVEFMGYLYFVGTIVFGPWISFHSYLQAVQGRPLSCRWLQKVARSLALALLCLVLSTCVGPYLFPYFIPLNGDRLLRNKKRKARGTMVRWLRAYESAVSFHFSNYFVGFLSEATATLAGAGFTEEKDHLEWDLTVSKPLNVELPRSMVEVVTSWNLPMSYWLNNYVFKNALRLGTFSAVLVTYAASALLHGFSFHLAAVLLSLAFITYVEHVLRKRLARILSACVLSKRCPPDCSHQHRLGLGVRALNLLFGALAIFHLAYLGSLFDVDVDDTTEEQGYGMAYTVHKWSELSWASHWVTFGCWIFYRLIG
uniprot
proteins
disease_involvement
DISEASE: Focal dermal hypoplasia (FODH) [MIM:305600]: A rare congenital ectomesodermal disorder characterized by a combination of skin defects, skeletal abnormalities, and ocular anomalies. Affected individuals have patchy dermal hypoplasia, often in a distribution pattern following the Blaschko lines, and areas of subcutaneous fat herniation or deposition of fat into the dermis. In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. Patients frequently have ocular anomalies, including microphthalmia/ anophthalmia, coloboma, pigmentary and vascularization defects of the retina. Dental abnormalities are often present. {ECO:0000269|PubMed:17546030, ECO:0000269|PubMed:17546031, ECO:0000269|PubMed:18325042, ECO:0000269|PubMed:19277062, ECO:0000269|PubMed:19309688, ECO:0000269|PubMed:19586929, ECO:0000269|PubMed:19863546, ECO:0000269|PubMed:21472892}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.250
uniprot
proteins
function
FUNCTION: Protein-serine O-palmitoleoyltransferase that acts as a key regulator of the Wnt signaling pathway by mediating the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1(9Z)), to Wnt proteins. Serine palmitoleoylation of WNT proteins is required for efficient binding to frizzled receptors. {ECO:0000250|UniProtKB:Q9JJJ7, ECO:0000269|PubMed:12034504, ECO:0000269|PubMed:20826466, ECO:0000269|PubMed:24292069}.
uniprot
proteins
mass_dalton
52318
uniprot
proteins
mutagenesis
MUTAGEN 187; /note="C->A: Drastic loss of palmitoylation."; /evidence="ECO:0000269|PubMed:24292069"; MUTAGEN 341; /note="H->A: Loss of function."; /evidence="ECO:0000269|PubMed:24292069
uniprot
proteins
protein_family
Membrane-bound acyltransferase family
uniprot
proteins
protein_family
Porcupine subfamily
uniprot
proteins
pubmed
12034504
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17546030
uniprot
proteins
pubmed
17546031
uniprot
proteins
pubmed
18325042
uniprot
proteins
pubmed
19277062
uniprot
proteins
pubmed
19309688
uniprot
proteins
pubmed
19586929
uniprot
proteins
pubmed
19863546
uniprot
proteins
pubmed
20826466
uniprot
proteins
pubmed
21472892
uniprot
proteins
pubmed
24292069
uniprot
proteins
sequence_length
461
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q9JJJ7}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9JJJ7}.
uniprot
proteins
transmembrane_region
TRANSMEM 18..38; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 67..87; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 96..116; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 153..173; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 199..219; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 253..273; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 338..358; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 397..417; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins