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Q9H237 (PORCN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein-cysteine N-palmitoyltransferase porcupine

EC=2.3.1.-
Alternative name(s):
Protein MG61
Gene names
Name:PORCN
Synonyms:MG61, PORC, PPN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length461 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

protein-cysteine N-palmitoyltransferase that modulates the processing of Wnt proteins by mediating serine palmitoylation of Wnt family members. Ref.1 Ref.7

Subunit structure

Interacts with WNT1, WNT3, WNT3A, WNT4, WNT5A, WNT5B, WNT6, WNT7A and WNT7B By similarity.

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein By similarity.

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. Ref.1

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14

Sequence similarities

Belongs to the membrane-bound acyltransferase family. Porcupine subfamily.

Sequence caution

The sequence AAA74510.1 differs from that shown. Reason: The sequence differs from that shown upstream of position 63 for unknown reasons.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9H237-1)

Also known as: D;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9H237-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     235-239: Missing.
Isoform 3 (identifier: Q9H237-3)

Also known as: C;

The sequence of this isoform differs from the canonical sequence as follows:
     229-235: NKKRKAR → K
Isoform 4 (identifier: Q9H237-4)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     229-240: NKKRKARGTMVR → K

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Protein-cysteine N-palmitoyltransferase porcupine
PRO_0000213137

Regions

Topological domain1 – 1717Cytoplasmic Potential
Transmembrane18 – 3821Helical; Potential
Topological domain39 – 6628Extracellular Potential
Transmembrane67 – 8721Helical; Potential
Topological domain88 – 958Cytoplasmic Potential
Transmembrane96 – 11621Helical; Potential
Topological domain117 – 15236Extracellular Potential
Transmembrane153 – 17321Helical; Potential
Topological domain174 – 19825Cytoplasmic Potential
Transmembrane199 – 21921Helical; Potential
Topological domain220 – 25233Extracellular Potential
Transmembrane253 – 27321Helical; Potential
Topological domain274 – 33764Cytoplasmic Potential
Transmembrane338 – 35821Helical; Potential
Topological domain359 – 39638Extracellular Potential
Transmembrane397 – 41721Helical; Potential
Topological domain418 – 46144Cytoplasmic Potential
Compositional bias13 – 8876Leu-rich

Sites

Active site3411 Potential

Natural variations

Alternative sequence229 – 24012NKKRK…GTMVR → K in isoform 4.
VSP_015886
Alternative sequence229 – 2357NKKRKAR → K in isoform 3.
VSP_015887
Alternative sequence235 – 2395Missing in isoform 2.
VSP_015888
Natural variant601G → R in FODH. Ref.8
VAR_035089
Natural variant1361S → F in FODH. Ref.12
VAR_058899
Natural variant1681G → R in FODH. Ref.12 Ref.13
VAR_058900
Natural variant2281R → C in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance. Ref.9
VAR_058901
Natural variant2521H → Y in FODH. Ref.14
VAR_065189
Natural variant2581V → E in FODH. Ref.12
VAR_058902
Natural variant2971S → L in FODH. Ref.13
VAR_065190
Natural variant3311L → R in FODH. Ref.10
VAR_065191
Natural variant3411H → L in FODH. Ref.12
VAR_058903
Natural variant3611E → V in FODH. Ref.11
VAR_065192
Natural variant3651R → G in FODH. Ref.8 Ref.12
VAR_035090
Natural variant3651R → Q in FODH. Ref.9 Ref.10 Ref.12 Ref.13 Ref.14
VAR_058904
Natural variant3741A → P in FODH. Ref.13
VAR_066061
Natural variant3851C → R in FODH. Ref.12
VAR_058905
Natural variant3851C → Y in FODH. Ref.11
VAR_065193
Natural variant4391W → R in FODH. Ref.12
VAR_058906

Experimental info

Sequence conflict421L → P in AAG39631. Ref.1
Sequence conflict1791A → T in AAG39628. Ref.1
Sequence conflict1791A → T in AAG39630. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (D) [UniParc].

Last modified October 17, 2006. Version 2.
Checksum: 000624825E507385

FASTA46152,318
        10         20         30         40         50         60 
MATFSRQEFF QQLLQGCLLP TAQQGLDQIW LLLAICLACR LLWRLGLPSY LKHASTVAGG 

        70         80         90        100        110        120 
FFSLYHFFQL HMVWVVLLSL LCYLVLFLCR HSSHRGVFLS VTILIYLLMG EMHMVDTVTW 

       130        140        150        160        170        180 
HKMRGAQMIV AMKAVSLGFD LDRGEVGTVP SPVEFMGYLY FVGTIVFGPW ISFHSYLQAV 

       190        200        210        220        230        240 
QGRPLSCRWL QKVARSLALA LLCLVLSTCV GPYLFPYFIP LNGDRLLRNK KRKARGTMVR 

       250        260        270        280        290        300 
WLRAYESAVS FHFSNYFVGF LSEATATLAG AGFTEEKDHL EWDLTVSKPL NVELPRSMVE 

       310        320        330        340        350        360 
VVTSWNLPMS YWLNNYVFKN ALRLGTFSAV LVTYAASALL HGFSFHLAAV LLSLAFITYV 

       370        380        390        400        410        420 
EHVLRKRLAR ILSACVLSKR CPPDCSHQHR LGLGVRALNL LFGALAIFHL AYLGSLFDVD 

       430        440        450        460 
VDDTTEEQGY GMAYTVHKWS ELSWASHWVT FGCWIFYRLI G 

« Hide

Isoform 2 (B) [UniParc].

Checksum: BF22FF1836BC9397
Show »

FASTA45651,773
Isoform 3 (C) [UniParc].

Checksum: 21532BA9B4D19F4A
Show »

FASTA45551,564
Isoform 4 (A) [UniParc].

Checksum: 7ECE3021794835EB
Show »

FASTA45051,019

References

« Hide 'large scale' references
[1]"Molecular cloning and initial characterization of the MG61/PORC gene, the human homologue of the Drosophila segment polarity gene Porcupine."
Caricasole A., Ferraro T., Rimland J.M., Terstappen G.C.
Gene 288:147-157(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4), FUNCTION IN WNT PROTEINS PROCESSING, ALTERNATIVE SPLICING, TISSUE SPECIFICITY.
Tissue: Hippocampus.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney.
[5]Geraghty M.T.
Submitted (JAN-1993) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 63-461 (ISOFORM 1).
Tissue: Retina.
[6]"Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia."
Grzeschik K.-H., Bornholdt D., Oeffner F., Koenig A., del Carmen Boente M., Enders H., Fritz B., Hertl M., Grasshoff U., Hoefling K., Oji V., Paradisi M., Schuchardt C., Szalai Z., Tadini G., Traupe H., Happle R.
Nat. Genet. 39:833-835(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN FODH.
[7]"WLS-dependent secretion of WNT3A requires Ser209 acylation and vacuolar acidification."
Coombs G.S., Yu J., Canning C.A., Veltri C.A., Covey T.M., Cheong J.K., Utomo V., Banerjee N., Zhang Z.H., Jadulco R.C., Concepcion G.P., Bugni T.S., Harper M.K., Mihalek I., Jones C.M., Ireland C.M., Virshup D.M.
J. Cell Sci. 123:3357-3367(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[8]"Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia."
Wang X., Reid Sutton V., Omar Peraza-Llanes J., Yu Z., Rosetta R., Kou Y.-C., Eble T.N., Patel A., Thaller C., Fang P., Van den Veyver I.B.
Nat. Genet. 39:836-838(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH ARG-60 AND GLY-365.
[9]"Three novel mutations in the PORCN gene underlying focal dermal hypoplasia."
Leoyklang P., Suphapeetiporn K., Wananukul S., Shotelersuk V.
Clin. Genet. 73:373-379(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT FODH GLN-365, VARIANT CYS-228.
[10]"Novel PORCN mutations in focal dermal hypoplasia."
Froyen G., Govaerts K., Van Esch H., Verbeeck J., Tuomi M.L., Heikkila H., Torniainen S., Devriendt K., Fryns J.P., Marynen P., Jarvela I., Ala-Mello S.
Clin. Genet. 76:535-543(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH ARG-331 AND GLN-365.
[11]"Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap."
Harmsen M.B., Azzarello-Burri S., Garcia Gonzalez M.M., Gillessen-Kaesbach G., Meinecke P., Muller D., Rauch A., Rossier E., Seemanova E., Spaich C., Steiner B., Wieczorek D., Zenker M., Kutsche K.
Eur. J. Hum. Genet. 17:1207-1215(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH VAL-361 AND TYR-385.
[12]"PORCN mutations in focal dermal hypoplasia: coping with lethality."
Bornholdt D., Oeffner F., Koenig A., Happle R., Alanay Y., Ascherman J., Benke P.J., Boente M.C., van der Burgt I., Chassaing N., Ellis I., Francisco C.R.I., Della Giovanna P., Hamel B., Has C., Heinelt K., Janecke A., Kastrup W. expand/collapse author list , Loeys B., Lohrisch I., Marcelis C., Mehraein Y., Nicolas M.E.O., Pagliarini D., Paradisi M., Patrizi A., Piccione M., Piza-Katzer H., Prager B., Prescott K., Strien J., Utine G.E., Zeller M.S., Grzeschik K.-H.
Hum. Mutat. 30:E618-E628(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH PHE-136; ARG-168; GLU-258; LEU-341; GLN-365; GLY-365; ARG-385 AND ARG-439.
[13]"Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome."
Maas S.M., Lombardi M.P., van Essen A.J., Wakeling E.L., Castle B., Temple I.K., Kumar V.K., Writzl K., Hennekam R.C.
J. Med. Genet. 46:716-720(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH ARG-168; LEU-297; GLN-365 AND PRO-374.
[14]"Mutation update for the PORCN gene."
Lombardi M.P., Bulk S., Celli J., Lampe A., Gabbett M.T., Ousager L.B., van der Smagt J.J., Soller M., Stattin E.L., Mannens M.A., Smigiel R., Hennekam R.C.
Hum. Mutat. 32:723-728(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS FODH TYR-252 AND GLN-365.

Web resources

GeneReviews
Leiden Open Variation Database

Porcupine homolog (Drosophila) (PORCN)

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF317058 mRNA. Translation: AAG39628.1.
AF317059 mRNA. Translation: AAG39629.1.
AF317060 mRNA. Translation: AAG39630.1.
AF317061 mRNA. Translation: AAG39631.1.
AK314745 mRNA. Translation: BAG37285.1.
CH471224 Genomic DNA. Translation: EAW50780.1.
BC019080 mRNA. Translation: AAH19080.1.
L08239 mRNA. Translation: AAA74510.1. Sequence problems.
RefSeqNP_001269096.1. NM_001282167.1.
NP_073736.2. NM_022825.3.
NP_982299.1. NM_203473.2.
NP_982300.1. NM_203474.1.
NP_982301.1. NM_203475.2.
UniGeneHs.386453.

3D structure databases

ProteinModelPortalQ9H237.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000322304.

Chemistry

ChEMBLCHEMBL1255163.

PTM databases

PhosphoSiteQ9H237.

Polymorphism databases

DMDM116242723.

Proteomic databases

PaxDbQ9H237.
PRIDEQ9H237.

Protocols and materials databases

DNASU64840.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000326194; ENSP00000322304; ENSG00000102312. [Q9H237-1]
ENST00000355092; ENSP00000347207; ENSG00000102312. [Q9H237-3]
ENST00000355961; ENSP00000348233; ENSG00000102312. [Q9H237-2]
ENST00000359882; ENSP00000352946; ENSG00000102312. [Q9H237-3]
ENST00000361988; ENSP00000354978; ENSG00000102312. [Q9H237-4]
ENST00000537758; ENSP00000446401; ENSG00000102312. [Q9H237-1]
ENST00000593777; ENSP00000472782; ENSG00000268138. [Q9H237-4]
ENST00000593935; ENSP00000470614; ENSG00000268138. [Q9H237-3]
ENST00000595612; ENSP00000469731; ENSG00000268138. [Q9H237-2]
ENST00000595805; ENSP00000471289; ENSG00000268138. [Q9H237-1]
ENST00000599083; ENSP00000469943; ENSG00000268138. [Q9H237-1]
ENST00000600418; ENSP00000472028; ENSG00000268138. [Q9H237-3]
GeneID64840.
KEGGhsa:64840.
UCSCuc004djr.1. human. [Q9H237-2]
uc004djs.1. human. [Q9H237-4]
uc004djv.1. human. [Q9H237-1]
uc004djw.1. human. [Q9H237-3]

Organism-specific databases

CTD64840.
GeneCardsGC0XP048367.
HGNCHGNC:17652. PORCN.
HPAHPA049215.
MIM300651. gene.
305600. phenotype.
neXtProtNX_Q9H237.
Orphanet2092. Focal dermal hypoplasia.
PharmGKBPA134906089.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG325605.
HOGENOMHOG000231245.
HOVERGENHBG061243.
InParanoidQ9H237.
KOK00181.
OMALYHFFQL.
PhylomeDBQ9H237.
TreeFamTF313724.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

ArrayExpressQ9H237.
BgeeQ9H237.
CleanExHS_PORCN.
GenevestigatorQ9H237.

Family and domain databases

InterProIPR004299. MBOAT_fam.
[Graphical view]
PfamPF03062. MBOAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSPORCN. human.
GenomeRNAi64840.
NextBio66934.
PROQ9H237.
SOURCESearch...

Entry information

Entry namePORCN_HUMAN
AccessionPrimary (citable) accession number: Q9H237
Secondary accession number(s): B2RBN8 expand/collapse secondary AC list , Q14829, Q9H234, Q9H235, Q9H236, Q9UJU7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 17, 2006
Last modified: March 19, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM