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Reviewed, UniProtKB/Swiss-Prot Q9H237 (PORCN_HUMAN)

Last modified January 19, 2010. Version 58. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Probable 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) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

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

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General annotation (Comments)

Function

Modulates the processing of Wnt proteins. Probable protein-cysteine N-palmitoyltransferase that palmitoylates Wnt family members. Ref.1

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

Defects in PORCN are the cause of focal dermal hypoplasia (FDH) [MIM:305600]; also known as Goltz syndrome. FDH is a X-linked dominant disorder characterized by defective development of ectodermal and mesodermal tissues. Often patients suffer from patchy hypoplastic skin and digital, ocular and dental malformations. Ref.6 Ref.7 Ref.8 Ref.9

Sequence similarities

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

Sequence caution

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

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Ontologies

Keywords
   Biological processWnt signaling pathway
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
   DomainTransmembrane
   Molecular functionAcyltransferase
Transferase
   Technical termComplete proteome
Gene Ontology (GO)
   Biological processWnt receptor signaling pathway

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular functionacyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

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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

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 461461Probable protein-cysteine N-palmitoyltransferase porcupine
PRO_0000213137

Regions

Topological domain1 – 1717Cytoplasmic Potential
Transmembrane18 – 3821 Potential
Topological domain39 – 6628Extracellular Potential
Transmembrane67 – 8721 Potential
Topological domain88 – 958Cytoplasmic Potential
Transmembrane96 – 11621 Potential
Topological domain117 – 15236Extracellular Potential
Transmembrane153 – 17321 Potential
Topological domain174 – 19825Cytoplasmic Potential
Transmembrane199 – 21921 Potential
Topological domain220 – 25233Extracellular Potential
Transmembrane253 – 27321 Potential
Topological domain274 – 33764Cytoplasmic Potential
Transmembrane338 – 35821 Potential
Topological domain359 – 39638Extracellular Potential
Transmembrane397 – 41721 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 FDH. Ref.7
VAR_035089
Natural variant1361S → F in FDH. Ref.9
VAR_058899
Natural variant1681G → R in FDH. Ref.9
VAR_058900
Natural variant2281R → C in FDH; uncertain pathogenicity. Ref.8
VAR_058901
Natural variant2581V → E in FDH. Ref.9
VAR_058902
Natural variant3411H → L in FDH. Ref.9
VAR_058903
Natural variant3651R → G in FDH. Ref.7 Ref.9
VAR_035090
Natural variant3651R → Q in FDH. Ref.8 Ref.9
VAR_058904
Natural variant3851C → R in FDH. Ref.9
VAR_058905
Natural variant4391W → R in FDH. Ref.9
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

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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).

Checksum: BF22FF1836BC9397
Show »

FASTA45651,773
Isoform 3 (C).

Checksum: 21532BA9B4D19F4A
Show »

FASTA45551,564
Isoform 4 (A).

Checksum: 7ECE3021794835EB
Show »

FASTA45051,019

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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: 12034504] [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: 14702039] [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: 15489334] [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: 17546031] [Abstract]
Cited for: INVOLVEMENT IN FDH.
[7]"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: 17546030] [Abstract]
Cited for: VARIANTS FDH ARG-60 AND GLY-365.
[8]"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: 18325042] [Abstract]
Cited for: VARIANTS FDH CYS-228 AND GLN-365.
[9]"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: 19309688] [Abstract]
Cited for: VARIANTS FDH PHE-136; ARG-168; GLU-258; LEU-341; GLN-365; GLY-365; ARG-385 AND ARG-439.
+Additional computationally mapped references.

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Web resources

GeneReviews

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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.
IPIIPI00010194.
IPI00183971.
IPI00383252.
IPI00409706.
RefSeqNP_073736.2.
NP_982299.1.
NP_982300.1.
NP_982301.1.
NP_982302.1.
UniGeneHs.386453

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGQ9H237.

Proteomic databases

PRIDEQ9H237.

Genome annotation databases

EnsemblENST00000326194; ENSP00000322304; ENSG00000102312; Homo sapiens. [Genome view]
GeneID64840.
KEGGhsa:64840.
UCSCuc004djr.1. human.
uc004djs.1. human.
uc004djv.1. human.
uc004djw.1. human.

Organism-specific databases

CTD64840.
GeneCardsGC0XP048262.
HGNCHGNC:17652. PORCN.
MIM300651. gene.
305600. phenotype.
Orphanet2092. Focal dermal hypoplasia.
PharmGKBPA134906089.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11083.
HOGENOMHBG446923.
HOVERGENQ9H237.
InParanoidQ9H237.
OMACVAPYLF.
OrthoDBEOG9FN747.
PhylomeDBQ9H237.

Gene expression databases

ArrayExpressQ9H237.
BgeeQ9H237.
CleanExHS_PORCN.
GenevestigatorQ9H237.
GermOnlineENSG00000102312. Homo sapiens.

Family and domain databases

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

Other Resources

NextBio66934.
SOURCESearch...

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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: January 19, 2010
This is version 58 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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.

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List of human entries with polymorphisms or disease mutations

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Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents