PORCN | ENSG00000102312 | NCBI 64840

Details for: PORCN

Gene ID: 64840

Symbol: PORCN

Ensembl ID: ENSG00000102312

Description: porcupine O-acyltransferase

Associated with

Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Lgk974 inhibits porcn
(R-HSA-5340573)
Signaling by wnt
(R-HSA-195721)
Signaling by wnt in cancer
(R-HSA-4791275)
Signal transduction
(R-HSA-162582)
Wnt ligand biogenesis and trafficking
(R-HSA-3238698)
Ampa glutamate receptor complex
(GO:0032281)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Glutamatergic synapse
(GO:0098978)
Glycoprotein metabolic process
(GO:0009100)
Lipid modification
(GO:0030258)
Membrane
(GO:0016020)
Palmitoleoyltransferase activity
(GO:1990698)
Protein lipidation
(GO:0006497)
Protein palmitoleylation
(GO:0045234)
Protein palmitoylation
(GO:0018345)
Regulation of postsynaptic membrane neurotransmitter receptor levels
(GO:0099072)
Wnt-protein binding
(GO:0017147)
Wnt protein secretion
(GO:0061355)
Wnt signaling pathway
(GO:0016055)

Other Information

Proteins

PORCN_HUMAN

Genular Protein ID: 69199826

Symbol: PORCN_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9H237 B2RBN8 B7ZAR3 Q14829 Q9H234 Q9H235 Q9H236 Q9UJU7

Database IDs:

Citations:

PubMed ID: 12034504

Title: Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine.

PubMed ID: 12034504

DOI: 10.1016/s0378-1119(02)00467-5

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17546031

Title: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.

PubMed ID: 17546031

DOI: 10.1038/ng2052

PubMed ID: 20826466

Title: WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification.

PubMed ID: 20826466

DOI: 10.1242/jcs.072132

PubMed ID: 24292069

Title: Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine.

PubMed ID: 24292069

DOI: 10.1038/nchembio.1392

PubMed ID: 17546030

Title: Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.

PubMed ID: 17546030

DOI: 10.1038/ng2057

PubMed ID: 18325042

Title: Three novel mutations in the PORCN gene underlying focal dermal hypoplasia.

PubMed ID: 18325042

DOI: 10.1111/j.1399-0004.2008.00975.x

PubMed ID: 19863546

Title: Novel PORCN mutations in focal dermal hypoplasia.

PubMed ID: 19863546

DOI: 10.1111/j.1399-0004.2009.01248.x

PubMed ID: 19277062

Title: Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

PubMed ID: 19277062

DOI: 10.1038/ejhg.2009.40

PubMed ID: 19309688

Title: PORCN mutations in focal dermal hypoplasia: coping with lethality.

PubMed ID: 19309688

DOI: 10.1002/humu.20992

PubMed ID: 19586929

Title: Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome.

PubMed ID: 19586929

DOI: 10.1136/jmg.2009.068403

PubMed ID: 21472892

Title: Mutation update for the PORCN gene.

PubMed ID: 21472892

DOI: 10.1002/humu.21505

Sequence Information:

Length: 461
Mass: 52318
Checksum: 000624825E507385
Sequence:

MATFSRQEFF QQLLQGCLLP TAQQGLDQIW LLLAICLACR LLWRLGLPSY LKHASTVAGG 
FFSLYHFFQL HMVWVVLLSL LCYLVLFLCR HSSHRGVFLS VTILIYLLMG EMHMVDTVTW 
HKMRGAQMIV AMKAVSLGFD LDRGEVGTVP SPVEFMGYLY FVGTIVFGPW ISFHSYLQAV 
QGRPLSCRWL QKVARSLALA LLCLVLSTCV GPYLFPYFIP LNGDRLLRNK KRKARGTMVR 
WLRAYESAVS FHFSNYFVGF LSEATATLAG AGFTEEKDHL EWDLTVSKPL NVELPRSMVE 
VVTSWNLPMS YWLNNYVFKN ALRLGTFSAV LVTYAASALL HGFSFHLAAV LLSLAFITYV 
EHVLRKRLAR ILSACVLSKR CPPDCSHQHR LGLGVRALNL LFGALAIFHL AYLGSLFDVD 
VDDTTEEQGY GMAYTVHKWS ELSWASHWVT FGCWIFYRLI G

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: PORCN

Associated with

Other Information

Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine. PubMed ID: 12034504

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence of the human X chromosome. PubMed ID: 15772651

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. PubMed ID: 17546031

WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification. PubMed ID: 20826466

Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine. PubMed ID: 24292069

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. PubMed ID: 17546030

Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. PubMed ID: 18325042

Novel PORCN mutations in focal dermal hypoplasia. PubMed ID: 19863546

Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. PubMed ID: 19277062

PORCN mutations in focal dermal hypoplasia: coping with lethality. PubMed ID: 19309688

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. PubMed ID: 19586929

Mutation update for the PORCN gene. PubMed ID: 21472892