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InnateDB Protein
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IDBP-63259.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PORCN
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Protein Name
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porcupine homolog (Drosophila)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000352946
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InnateDB Gene
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IDBG-63247 (PORCN)
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Protein Structure
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| Function |
protein-cysteine N-palmitoyltransferase that modulates the processing of Wnt proteins by mediating serine palmitoylation of Wnt family members. {ECO:0000269PubMed:12034504, ECO:0000269PubMed:20826466, ECO:0000269PubMed:24292069}.
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| Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
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| Disease Associations |
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:0000269PubMed:17546030, ECO:0000269PubMed:17546031, ECO:0000269PubMed:18325042, ECO:0000269PubMed:19277062, ECO:0000269PubMed:19309688, ECO:0000269PubMed:19586929, ECO:0000269PubMed:19863546, ECO:0000269PubMed:21472892}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
Isoform 1 is expressed in fetal brain, brain, amygdala, caudate nucleus, cerebellum, hippocampus, pituitary, thalamus, heart, skeletal muscle and testis. Isoform 4 is expressed in amygdala, corpus callosum, hippocampus, spinal cord, kidney, liver, lung, spleen, uterus, testis. Isoform 2 and isoform 3 are expressed in substantia negra, spinal cord, heart and lung. {ECO:0000269PubMed:12034504}.
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
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| Predicted by orthology |
| Total |
10 [view]
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Molecular Function |
| Accession |
GO Term |
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GO:0016746
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transferase activity, transferring acyl groups
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR004299
Membrane bound O-acyl transferase, MBOAT
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| PFAM |
PF03062
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| PRINTS |
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| PIRSF |
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
Q9H237
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| PhosphoSite |
PhosphoSite-Q9H237
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| TrEMBL |
C9JWI5
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| UniProt Splice Variant |
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| Entrez Gene |
64840
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| UniGene |
Hs.386453
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| RefSeq |
NP_982300
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| HUGO |
HGNC:17652
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| OMIM |
300651
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| CCDS |
CCDS14298
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| HPRD |
06680
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| IMGT |
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| EMBL |
AF196972
AF317058
AF317059
AF317060
AF317061
AK314745
BC019080
CH471224
L08239
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| GenPept |
AAA74510
AAG39628
AAG39629
AAG39630
AAG39631
AAH19080
BAG37285
EAW50780
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Version 5.4