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Protein

Protein-serine O-palmitoleoyltransferase porcupine

Gene

PORCN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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), to Wnt proteins. Serine palmitoleylation of WNT proteins is required for efficient binding to frizzled receptors.By similarity3 Publications

Catalytic activityi

(9Z)-hexadecenoyl-CoA + [Wnt]-L-serine = CoA + [Wnt]-O-(9Z)-hexadecenoyl-L-serine.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei3411 Publication1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

Wnt signaling pathway

Enzyme and pathway databases

ReactomeiR-HSA-3238698. WNT ligand biogenesis and trafficking.
R-HSA-5340573. WNT ligand secretion is abrogated by the PORCN inhibitor LGK974.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-serine O-palmitoleoyltransferase porcupineBy similarity (EC:2.3.1.-By similarity)
Alternative name(s):
Protein MG611 Publication
Gene namesi
Name:PORCNImported
Synonyms:MG611 Publication, PORC, PPN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:17652. PORCN.

Subcellular locationi

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
Transmembranei18 – 38HelicalSequence analysisAdd BLAST21
Topological domaini39 – 66ExtracellularSequence analysisAdd BLAST28
Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Topological domaini88 – 95CytoplasmicSequence analysis8
Transmembranei96 – 116HelicalSequence analysisAdd BLAST21
Topological domaini117 – 152ExtracellularSequence analysisAdd BLAST36
Transmembranei153 – 173HelicalSequence analysisAdd BLAST21
Topological domaini174 – 198CytoplasmicSequence analysisAdd BLAST25
Transmembranei199 – 219HelicalSequence analysisAdd BLAST21
Topological domaini220 – 252ExtracellularSequence analysisAdd BLAST33
Transmembranei253 – 273HelicalSequence analysisAdd BLAST21
Topological domaini274 – 337CytoplasmicSequence analysisAdd BLAST64
Transmembranei338 – 358HelicalSequence analysisAdd BLAST21
Topological domaini359 – 396ExtracellularSequence analysisAdd BLAST38
Transmembranei397 – 417HelicalSequence analysisAdd BLAST21
Topological domaini418 – 461CytoplasmicSequence analysisAdd BLAST44

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Focal dermal hypoplasia (FODH)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:305600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03508960G → R in FODH. 1 PublicationCorresponds to variant rs267606973dbSNPEnsembl.1
Natural variantiVAR_058899136S → F in FODH. 1 Publication1
Natural variantiVAR_058900168G → R in FODH. 2 Publications1
Natural variantiVAR_065189252H → Y in FODH. 1 Publication1
Natural variantiVAR_058902258V → E in FODH. 1 Publication1
Natural variantiVAR_065190297S → L in FODH. 1 Publication1
Natural variantiVAR_065191331L → R in FODH. 1 Publication1
Natural variantiVAR_058903341H → L in FODH. 1 Publication1
Natural variantiVAR_065192361E → V in FODH. 1 Publication1
Natural variantiVAR_035090365R → G in FODH. 2 Publications1
Natural variantiVAR_058904365R → Q in FODH. 5 Publications1
Natural variantiVAR_066061374A → P in FODH. 1 Publication1
Natural variantiVAR_058905385C → R in FODH. 1 Publication1
Natural variantiVAR_065193385C → Y in FODH. 1 Publication1
Natural variantiVAR_058906439W → R in FODH. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi187C → A: Drastic loss of palmitoylation. 1 Publication1
Mutagenesisi341H → A: Loss of function. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi64840.
MalaCardsiPORCN.
MIMi305600. phenotype.
OpenTargetsiENSG00000102312.
Orphaneti2092. Focal dermal hypoplasia.
PharmGKBiPA134906089.

Chemistry databases

ChEMBLiCHEMBL1255163.

Polymorphism and mutation databases

BioMutaiPORCN.
DMDMi116242723.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002131371 – 461Protein-serine O-palmitoleoyltransferase porcupineAdd BLAST461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi187S-palmitoyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

MaxQBiQ9H237.
PaxDbiQ9H237.
PeptideAtlasiQ9H237.
PRIDEiQ9H237.

PTM databases

iPTMnetiQ9H237.
PhosphoSitePlusiQ9H237.

Expressioni

Tissue specificityi

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.1 Publication

Gene expression databases

BgeeiENSG00000102312.
CleanExiHS_PORCN.
ExpressionAtlasiQ9H237. baseline and differential.
GenevisibleiQ9H237. HS.

Organism-specific databases

HPAiHPA049215.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

STRINGi9606.ENSP00000322304.

Structurei

3D structure databases

ProteinModelPortaliQ9H237.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4312. Eukaryota.
ENOG410YDZ6. LUCA.
GeneTreeiENSGT00440000033687.
HOGENOMiHOG000231245.
HOVERGENiHBG061243.
InParanoidiQ9H237.
KOiK00181.
OMAiELSWTSH.
OrthoDBiEOG091G0DRB.
PhylomeDBiQ9H237.
TreeFamiTF313724.

Family and domain databases

InterProiIPR004299. MBOAT_fam.
[Graphical view]
PfamiPF03062. MBOAT. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H237-1) [UniParc]FASTAAdd to basket
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.

« Hide

        10         20         30         40         50
MATFSRQEFF QQLLQGCLLP TAQQGLDQIW LLLAICLACR LLWRLGLPSY
60 70 80 90 100
LKHASTVAGG FFSLYHFFQL HMVWVVLLSL LCYLVLFLCR HSSHRGVFLS
110 120 130 140 150
VTILIYLLMG EMHMVDTVTW HKMRGAQMIV AMKAVSLGFD LDRGEVGTVP
160 170 180 190 200
SPVEFMGYLY FVGTIVFGPW ISFHSYLQAV QGRPLSCRWL QKVARSLALA
210 220 230 240 250
LLCLVLSTCV GPYLFPYFIP LNGDRLLRNK KRKARGTMVR WLRAYESAVS
260 270 280 290 300
FHFSNYFVGF LSEATATLAG AGFTEEKDHL EWDLTVSKPL NVELPRSMVE
310 320 330 340 350
VVTSWNLPMS YWLNNYVFKN ALRLGTFSAV LVTYAASALL HGFSFHLAAV
360 370 380 390 400
LLSLAFITYV EHVLRKRLAR ILSACVLSKR CPPDCSHQHR LGLGVRALNL
410 420 430 440 450
LFGALAIFHL AYLGSLFDVD VDDTTEEQGY GMAYTVHKWS ELSWASHWVT
460
FGCWIFYRLI G
Length:461
Mass (Da):52,318
Last modified:October 17, 2006 - v2
Checksum:i000624825E507385
GO
Isoform 2 (identifier: Q9H237-2) [UniParc]FASTAAdd to basket
Also known as: B

The sequence of this isoform differs from the canonical sequence as follows:
     235-239: Missing.

Show »
Length:456
Mass (Da):51,773
Checksum:iBF22FF1836BC9397
GO
Isoform 3 (identifier: Q9H237-3) [UniParc]FASTAAdd to basket
Also known as: C

The sequence of this isoform differs from the canonical sequence as follows:
     229-235: NKKRKAR → K

Show »
Length:455
Mass (Da):51,564
Checksum:i21532BA9B4D19F4A
GO
Isoform 4 (identifier: Q9H237-4) [UniParc]FASTAAdd to basket
Also known as: A

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

Show »
Length:450
Mass (Da):51,019
Checksum:i7ECE3021794835EB
GO
Isoform 5 (identifier: Q9H237-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-71: Missing.
     229-240: NKKRKARGTMVR → K

Note: No experimental confirmation available.
Show »
Length:379
Mass (Da):42,878
Checksum:i562081CACFEDA645
GO

Sequence cautioni

The sequence AAA74510 differs from that shown. The sequence differs from that shown upstream of position 63 for unknown reasons.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42L → P in AAG39631 (PubMed:12034504).Curated1
Sequence conflicti179A → T in AAG39628 (PubMed:12034504).Curated1
Sequence conflicti179A → T in AAG39630 (PubMed:12034504).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03508960G → R in FODH. 1 PublicationCorresponds to variant rs267606973dbSNPEnsembl.1
Natural variantiVAR_058899136S → F in FODH. 1 Publication1
Natural variantiVAR_058900168G → R in FODH. 2 Publications1
Natural variantiVAR_058901228R → C in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance. 1 Publication1
Natural variantiVAR_065189252H → Y in FODH. 1 Publication1
Natural variantiVAR_058902258V → E in FODH. 1 Publication1
Natural variantiVAR_065190297S → L in FODH. 1 Publication1
Natural variantiVAR_065191331L → R in FODH. 1 Publication1
Natural variantiVAR_058903341H → L in FODH. 1 Publication1
Natural variantiVAR_065192361E → V in FODH. 1 Publication1
Natural variantiVAR_035090365R → G in FODH. 2 Publications1
Natural variantiVAR_058904365R → Q in FODH. 5 Publications1
Natural variantiVAR_066061374A → P in FODH. 1 Publication1
Natural variantiVAR_058905385C → R in FODH. 1 Publication1
Natural variantiVAR_065193385C → Y in FODH. 1 Publication1
Natural variantiVAR_058906439W → R in FODH. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0554191 – 71Missing in isoform 5. 1 PublicationAdd BLAST71
Alternative sequenceiVSP_015886229 – 240NKKRK…GTMVR → K in isoform 4 and isoform 5. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_015887229 – 235NKKRKAR → K in isoform 3. 1 Publication7
Alternative sequenceiVSP_015888235 – 239Missing in isoform 2. 2 Publications5

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK316378 mRNA. Translation: BAH14749.1.
AF196972 Genomic DNA. No translation available.
CH471224 Genomic DNA. Translation: EAW50780.1.
BC019080 mRNA. Translation: AAH19080.1.
L08239 mRNA. Translation: AAA74510.1. Sequence problems.
CCDSiCCDS14296.1. [Q9H237-4]
CCDS14297.1. [Q9H237-2]
CCDS14298.1. [Q9H237-3]
CCDS14299.1. [Q9H237-1]
RefSeqiNP_001269096.1. NM_001282167.1. [Q9H237-5]
NP_073736.2. NM_022825.3. [Q9H237-4]
NP_982299.1. NM_203473.2. [Q9H237-2]
NP_982300.1. NM_203474.1. [Q9H237-3]
NP_982301.1. NM_203475.2. [Q9H237-1]
XP_006724609.1. XM_006724546.3. [Q9H237-1]
XP_011542250.1. XM_011543948.2. [Q9H237-5]
XP_016885225.1. XM_017029736.1. [Q9H237-5]
UniGeneiHs.386453.

Genome annotation databases

EnsembliENST00000326194; ENSP00000322304; ENSG00000102312. [Q9H237-1]
ENST00000355961; ENSP00000348233; ENSG00000102312. [Q9H237-2]
ENST00000359882; ENSP00000352946; ENSG00000102312. [Q9H237-3]
ENST00000361988; ENSP00000354978; ENSG00000102312. [Q9H237-4]
ENST00000367574; ENSP00000356546; ENSG00000102312. [Q9H237-3]
ENST00000537758; ENSP00000446401; ENSG00000102312. [Q9H237-2]
GeneIDi64840.
KEGGihsa:64840.
UCSCiuc004djr.3. human. [Q9H237-1]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Web resourcesi

Leiden Open Variation Database

Porcupine homolog (Drosophila) (PORCN)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK316378 mRNA. Translation: BAH14749.1.
AF196972 Genomic DNA. No translation available.
CH471224 Genomic DNA. Translation: EAW50780.1.
BC019080 mRNA. Translation: AAH19080.1.
L08239 mRNA. Translation: AAA74510.1. Sequence problems.
CCDSiCCDS14296.1. [Q9H237-4]
CCDS14297.1. [Q9H237-2]
CCDS14298.1. [Q9H237-3]
CCDS14299.1. [Q9H237-1]
RefSeqiNP_001269096.1. NM_001282167.1. [Q9H237-5]
NP_073736.2. NM_022825.3. [Q9H237-4]
NP_982299.1. NM_203473.2. [Q9H237-2]
NP_982300.1. NM_203474.1. [Q9H237-3]
NP_982301.1. NM_203475.2. [Q9H237-1]
XP_006724609.1. XM_006724546.3. [Q9H237-1]
XP_011542250.1. XM_011543948.2. [Q9H237-5]
XP_016885225.1. XM_017029736.1. [Q9H237-5]
UniGeneiHs.386453.

3D structure databases

ProteinModelPortaliQ9H237.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000322304.

Chemistry databases

ChEMBLiCHEMBL1255163.

PTM databases

iPTMnetiQ9H237.
PhosphoSitePlusiQ9H237.

Polymorphism and mutation databases

BioMutaiPORCN.
DMDMi116242723.

Proteomic databases

MaxQBiQ9H237.
PaxDbiQ9H237.
PeptideAtlasiQ9H237.
PRIDEiQ9H237.

Protocols and materials databases

DNASUi64840.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326194; ENSP00000322304; ENSG00000102312. [Q9H237-1]
ENST00000355961; ENSP00000348233; ENSG00000102312. [Q9H237-2]
ENST00000359882; ENSP00000352946; ENSG00000102312. [Q9H237-3]
ENST00000361988; ENSP00000354978; ENSG00000102312. [Q9H237-4]
ENST00000367574; ENSP00000356546; ENSG00000102312. [Q9H237-3]
ENST00000537758; ENSP00000446401; ENSG00000102312. [Q9H237-2]
GeneIDi64840.
KEGGihsa:64840.
UCSCiuc004djr.3. human. [Q9H237-1]

Organism-specific databases

CTDi64840.
DisGeNETi64840.
GeneCardsiPORCN.
GeneReviewsiPORCN.
HGNCiHGNC:17652. PORCN.
HPAiHPA049215.
MalaCardsiPORCN.
MIMi300651. gene.
305600. phenotype.
neXtProtiNX_Q9H237.
OpenTargetsiENSG00000102312.
Orphaneti2092. Focal dermal hypoplasia.
PharmGKBiPA134906089.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4312. Eukaryota.
ENOG410YDZ6. LUCA.
GeneTreeiENSGT00440000033687.
HOGENOMiHOG000231245.
HOVERGENiHBG061243.
InParanoidiQ9H237.
KOiK00181.
OMAiELSWTSH.
OrthoDBiEOG091G0DRB.
PhylomeDBiQ9H237.
TreeFamiTF313724.

Enzyme and pathway databases

ReactomeiR-HSA-3238698. WNT ligand biogenesis and trafficking.
R-HSA-5340573. WNT ligand secretion is abrogated by the PORCN inhibitor LGK974.

Miscellaneous databases

ChiTaRSiPORCN. human.
GenomeRNAii64840.
PROiQ9H237.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102312.
CleanExiHS_PORCN.
ExpressionAtlasiQ9H237. baseline and differential.
GenevisibleiQ9H237. HS.

Family and domain databases

InterProiIPR004299. MBOAT_fam.
[Graphical view]
PfamiPF03062. MBOAT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPORCN_HUMAN
AccessioniPrimary (citable) accession number: Q9H237
Secondary accession number(s): B2RBN8
, B7ZAR3, Q14829, Q9H234, Q9H235, Q9H236, Q9UJU7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 17, 2006
Last modified: November 2, 2016
This is version 121 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Caution

Was initially thought to mediate palmitoylation of Wnt proteins (PubMed:24292069). It was later shown that it instead acts as a serine O-palmitoleoyltransferase that mediates the attachment of palmitoleate, a 16-carbon monounsaturated fatty acid (C16:1), to Wnt proteins.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.