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Entry version 137 (08 May 2019)
Sequence version 2 (17 Oct 2006)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei3411 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processWnt signaling pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.100.1.1 the protein-serine o-palmitoleoyltransferase porcupine (ps-pp) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein-serine O-palmitoleoyltransferase porcupineBy similarity (EC:2.3.1.250By similarity)
Alternative name(s):
Protein MG611 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PORCNImported
Synonyms:MG611 Publication, PORC, PPN
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17652 PORCN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300651 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9H237

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 17CytoplasmicSequence analysisAdd BLAST17
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03508960G → R in FODH. 1 PublicationCorresponds to variant dbSNP:rs267606973EnsemblClinVar.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
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi187C → A: Drastic loss of palmitoylation. 1 Publication1
Mutagenesisi341H → A: Loss of function. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
64840

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
PORCN

MalaCards human disease database

More...
MalaCardsi
PORCN
MIMi305600 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000102312

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
2092 Focal dermal hypoplasia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134906089

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL1255163

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PORCN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116242723

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002131371 – 461Protein-serine O-palmitoleoyltransferase porcupineAdd BLAST461

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi187S-palmitoyl cysteine1 Publication1

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9H237

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9H237

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9H237

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9H237

PeptideAtlas

More...
PeptideAtlasi
Q9H237

PRoteomics IDEntifications database

More...
PRIDEi
Q9H237

ProteomicsDB human proteome resource

More...
ProteomicsDBi
80481
80482 [Q9H237-2]
80483 [Q9H237-3]
80484 [Q9H237-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9H237

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9H237

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000102312 Expressed in 87 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9H237 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9H237 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049215
HPA058413

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
122316, 1 interactor

Protein interaction database and analysis system

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IntActi
Q9H237, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000322304

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q9H237

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4312 Eukaryota
ENOG410YDZ6 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182735

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231245

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9H237

KEGG Orthology (KO)

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KOi
K00181

Identification of Orthologs from Complete Genome Data

More...
OMAi
IEWPRSI

Database of Orthologous Groups

More...
OrthoDBi
975725at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9H237

TreeFam database of animal gene trees

More...
TreeFami
TF313724

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004299 MBOAT_fam

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF03062 MBOAT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JWI5C9JWI5_HUMAN
Protein-serine O-palmitoleoyltransf...
PORCN
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F2Z360F2Z360_HUMAN
Protein-serine O-palmitoleoyltransf...
PORCN
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WEW7F8WEW7_HUMAN
Protein-serine O-palmitoleoyltransf...
PORCN
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8VTB3F8VTB3_HUMAN
Protein-serine O-palmitoleoyltransf...
PORCN
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 dbSNP:rs267606973EnsemblClinVar.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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS14296.1 [Q9H237-4]
CCDS14297.1 [Q9H237-2]
CCDS14298.1 [Q9H237-3]
CCDS14299.1 [Q9H237-1]

NCBI Reference Sequences

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RefSeqi
NP_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
XP_011542250.1, XM_011543948.2
XP_016885225.1, XM_017029736.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000326194; 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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
64840

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:64840

UCSC genome browser

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UCSCi
uc004djr.3 human [Q9H237-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
XP_011542250.1, XM_011543948.2
XP_016885225.1, XM_017029736.1

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi122316, 1 interactor
IntActiQ9H237, 2 interactors
STRINGi9606.ENSP00000322304

Chemistry databases

BindingDBiQ9H237
ChEMBLiCHEMBL1255163

Protein family/group databases

TCDBi8.A.100.1.1 the protein-serine o-palmitoleoyltransferase porcupine (ps-pp) family

PTM databases

iPTMnetiQ9H237
PhosphoSitePlusiQ9H237

Polymorphism and mutation databases

BioMutaiPORCN
DMDMi116242723

Proteomic databases

EPDiQ9H237
jPOSTiQ9H237
MaxQBiQ9H237
PaxDbiQ9H237
PeptideAtlasiQ9H237
PRIDEiQ9H237
ProteomicsDBi80481
80482 [Q9H237-2]
80483 [Q9H237-3]
80484 [Q9H237-4]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
64840
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

Comparative Toxicogenomics Database

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CTDi
64840
DisGeNETi64840

GeneCards: human genes, protein and diseases

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GeneCardsi
PORCN
GeneReviewsiPORCN
HGNCiHGNC:17652 PORCN
HPAiHPA049215
HPA058413
MalaCardsiPORCN
MIMi300651 gene
305600 phenotype
neXtProtiNX_Q9H237
OpenTargetsiENSG00000102312
Orphaneti2092 Focal dermal hypoplasia
PharmGKBiPA134906089

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4312 Eukaryota
ENOG410YDZ6 LUCA
GeneTreeiENSGT00950000182735
HOGENOMiHOG000231245
InParanoidiQ9H237
KOiK00181
OMAiIEWPRSI
OrthoDBi975725at2759
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

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PORCN human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
64840

Protein Ontology

More...
PROi
PR:Q9H237

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102312 Expressed in 87 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiQ9H237 baseline and differential
GenevisibleiQ9H237 HS

Family and domain databases

InterProiView protein in InterPro
IPR004299 MBOAT_fam
PfamiView protein in Pfam
PF03062 MBOAT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPORCN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9H237
Secondary accession number(s): B2RBN8
, B7ZAR3, Q14829, Q9H234, Q9H235, Q9H236, Q9UJU7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 137 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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