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Entry version 133 (18 Sep 2019)
Sequence version 1 (01 May 1999)
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Protein

GPI ethanolamine phosphate transferase 1

Gene

PIGN

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

Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.By similarity1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.

<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 functionTransferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00196

<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:
GPI ethanolamine phosphate transferase 1 (EC:2.-.-.-)
Alternative name(s):
MCD4 homolog
Phosphatidylinositol-glycan biosynthesis class N protein
Short name:
PIG-N
<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:PIGN
Synonyms:MCD4
<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 18

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8967 PIGN

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606097 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95427

<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 domaini1CytoplasmicSequence analysis1
<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>Transmembranei2 – 24HelicalSequence analysisAdd BLAST23
Topological domaini25 – 442LumenalSequence analysisAdd BLAST418
Transmembranei443 – 463HelicalSequence analysisAdd BLAST21
Topological domaini464 – 482CytoplasmicSequence analysisAdd BLAST19
Transmembranei483 – 503HelicalSequence analysisAdd BLAST21
Topological domaini504 – 508LumenalSequence analysis5
Transmembranei509 – 529HelicalSequence analysisAdd BLAST21
Topological domaini530 – 543CytoplasmicSequence analysisAdd BLAST14
Transmembranei544 – 564HelicalSequence analysisAdd BLAST21
Topological domaini565LumenalSequence analysis1
Transmembranei566 – 586HelicalSequence analysisAdd BLAST21
Topological domaini587 – 591CytoplasmicSequence analysis5
Transmembranei592 – 612HelicalSequence analysisAdd BLAST21
Topological domaini613 – 618LumenalSequence analysis6
Transmembranei619 – 639HelicalSequence analysisAdd BLAST21
Topological domaini640 – 649CytoplasmicSequence analysis10
Transmembranei650 – 670HelicalSequence analysisAdd BLAST21
Topological domaini671 – 685LumenalSequence analysisAdd BLAST15
Transmembranei686 – 706HelicalSequence analysisAdd BLAST21
Topological domaini707 – 723CytoplasmicSequence analysisAdd BLAST17
Transmembranei724 – 744HelicalSequence analysisAdd BLAST21
Topological domaini745 – 786LumenalSequence analysisAdd BLAST42
Transmembranei787 – 807HelicalSequence analysisAdd BLAST21
Topological domaini808 – 824CytoplasmicSequence analysisAdd BLAST17
Transmembranei825 – 845HelicalSequence analysisAdd BLAST21
Topological domaini846 – 858LumenalSequence analysisAdd BLAST13
Transmembranei859 – 879HelicalSequence analysisAdd BLAST21
Topological domaini880 – 894CytoplasmicSequence analysisAdd BLAST15
Transmembranei895 – 915HelicalSequence analysisAdd BLAST21
Topological domaini916 – 931LumenalSequence analysisAdd BLAST16

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

Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age.
Related information in OMIM
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_066402709R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
23556

MalaCards human disease database

More...
MalaCardsi
PIGN
MIMi614080 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197563

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

More...
Orphaneti
2059 Fryns syndrome
280633 Multiple congenital anomalies-hypotonia-seizures syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33298

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIGN

<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_00002461981 – 931GPI ethanolamine phosphate transferase 1Add BLAST931

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 and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi128N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi192N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi350N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O95427

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O95427

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
O95427

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95427

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

More...
PaxDbi
O95427

PeptideAtlas

More...
PeptideAtlasi
O95427

PRoteomics IDEntifications database

More...
PRIDEi
O95427

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50868

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1284

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95427

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

More...
PhosphoSitePlusi
O95427

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O95427

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197563 Expressed in 187 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95427 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O95427 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039922
HPA040374

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117100, 33 interactors

Protein interaction database and analysis system

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IntActi
O95427, 11 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000350263

<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

Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2124 Eukaryota
COG1524 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000017600

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000170818

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95427

KEGG Orthology (KO)

More...
KOi
K05285

Identification of Orthologs from Complete Genome Data

More...
OMAi
GKPKSHL

Database of Orthologous Groups

More...
OrthoDBi
270107at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95427

TreeFam database of animal gene trees

More...
TreeFami
TF300506

Family and domain databases

Conserved Domains Database

More...
CDDi
cd16020 GPI_EPT_1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.720.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR007070 GPI_EtnP_transferase_1
IPR017852 GPI_EtnP_transferase_1_C
IPR002591 Phosphodiest/P_Trfase
IPR037671 PIGN_N

The PANTHER Classification System

More...
PANTHERi
PTHR12250 PTHR12250, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01663 Phosphodiest, 1 hit
PF04987 PigN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53649 SSF53649, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 26 potential isoforms that are computationally mapped.Show allAlign All

O95427-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLLFFTLGLL IHFVFFASIF DIYFTSPLVH GMTPQFTPLP PPARRLVLFV
60 70 80 90 100
ADGLRADALY ELDENGNSRA PFIRNIIMHE GSWGISHTRV PTESRPGHVA
110 120 130 140 150
LIAGFYEDVS AVAKGWKENP VEFDSLFNES KYTWSWGSPD ILPMFAKGAS
160 170 180 190 200
GDHVYTYSYD AKREDFGAQD ATKLDTWVFD NVKDFFHHAR NNQSLFSKIN
210 220 230 240 250
EEKIVFFLHL LGIDTNGHAH RPSSRDYKHN IKKVDDGVKE IVSMFNHFYG
260 270 280 290 300
NDGKTTFIFT SDHGMTDWGS HGAGHPSETL TPLVTWGAGI KYPQRVSAQQ
310 320 330 340 350
FDDAFLKEWR LENWKRLDVN QADIAPLMTS LIGVPFPLNS VGILPVDYLN
360 370 380 390 400
NTDLFKAESM FTNAVQILEQ FKVKMTQKKE VTLPFLFTPF KLLSDSKQFN
410 420 430 440 450
ILRKARSYIK HRKFDEVVSL CKELIHLALK GLSYYHTYDR FFLGVNVVIG
460 470 480 490 500
FVGWISYASL LIIKSHSNLI KGVSKEVKKP SHLLPCSFVA IGILVAFFLL
510 520 530 540 550
IQACPWTYYV YGLLPLPIWY AVLREFQVIQ DLVVSVLTYP LSHFVGYLLA
560 570 580 590 600
FTLGIEVLVL SFFYRYMLTA GLTAFAAWPF LTRLWTRAKM TSLSWTFFSL
610 620 630 640 650
LLAVFPLMPV VGRKPDISLV MGAGLLVLLL SLCVVTSLMK RKDSFIKEEL
660 670 680 690 700
LVHLLQVLST VLSMYVVYST QSSLLRKQGL PLMNQIISWA TLASSLVVPL
710 720 730 740 750
LSSPVLFQRL FSILLSLMST YLLLSTGYEA LFPLVLSCLM FVWINIEQET
760 770 780 790 800
LQQSGVCCKQ KLTSIQFSYN TDITQFRQLY LDDIRRAFFL VFFLVTAFFG
810 820 830 840 850
TGNIASINSF DLASVYCFLT VFSPFMMGAL MMWKILIPFV LVMCAFEAVQ
860 870 880 890 900
LTTQLSSKSL FLIVLVISDI MALHFFFLVK DYGSWLDIGT SISHYVIVMS
910 920 930
MTIFLVFLNG LAQLLTTKKL RLCGKPKSHF M
Length:931
Mass (Da):105,810
Last modified:May 1, 1999 - v1
<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:iD67B376EF7864C55
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 26 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7ELE1K7ELE1_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
490Annotation score:

Annotation score:2 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>
K7EL34K7EL34_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
283Annotation score:

Annotation score:2 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>
K7EMD7K7EMD7_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
395Annotation score:

Annotation score:2 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>
K7EPJ2K7EPJ2_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
391Annotation score:

Annotation score:2 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>
K7ESH9K7ESH9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
198Annotation score:

Annotation score:2 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>
K7EID9K7EID9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
140Annotation score:

Annotation score:2 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>
A0A1W2PNQ8A0A1W2PNQ8_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
847Annotation 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>
A0A1W2PPR7A0A1W2PPR7_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
797Annotation 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>
A0A1W2PQA9A0A1W2PQA9_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
970Annotation 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>
A0A1W2PNH8A0A1W2PNH8_HUMAN
GPI ethanolamine phosphate transfer...
PIGN
911Annotation 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>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_053573162K → E. Corresponds to variant dbSNP:rs17069506EnsemblClinVar.1
Natural variantiVAR_053574229H → D1 PublicationCorresponds to variant dbSNP:rs9320001EnsemblClinVar.1
Natural variantiVAR_053575469L → F. Corresponds to variant dbSNP:rs3862712Ensembl.1
Natural variantiVAR_053576470I → L. Corresponds to variant dbSNP:rs3862712Ensembl.1
Natural variantiVAR_066402709R → Q in MCAHS1. 1 PublicationCorresponds to variant dbSNP:rs397514475EnsemblClinVar.1
Natural variantiVAR_053577904F → C. Corresponds to variant dbSNP:rs34231046EnsemblClinVar.1
Natural variantiVAR_053578904F → L. Corresponds to variant dbSNP:rs34231046EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF109219 mRNA Translation: AAD11432.1
BC028363 mRNA Translation: AAH28363.1
AL137607 mRNA Translation: CAB70839.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS45879.1

Protein sequence database of the Protein Information Resource

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PIRi
T46311

NCBI Reference Sequences

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RefSeqi
NP_036459.1, NM_012327.5
NP_789744.1, NM_176787.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000357637; ENSP00000350263; ENSG00000197563
ENST00000400334; ENSP00000383188; ENSG00000197563
ENST00000638936; ENSP00000492592; ENSG00000197563
ENST00000640050; ENSP00000492051; ENSG00000197563
ENST00000640145; ENSP00000491525; ENSG00000197563
ENST00000640252; ENSP00000492233; ENSG00000197563
ENST00000640876; ENSP00000491628; ENSG00000197563

Database of genes from NCBI RefSeq genomes

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GeneIDi
23556

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23556

UCSC genome browser

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UCSCi
uc021ulb.3 human

Keywords - Coding sequence diversityi

Polymorphism

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF109219 mRNA Translation: AAD11432.1
BC028363 mRNA Translation: AAH28363.1
AL137607 mRNA Translation: CAB70839.1
CCDSiCCDS45879.1
PIRiT46311
RefSeqiNP_036459.1, NM_012327.5
NP_789744.1, NM_176787.4

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi117100, 33 interactors
IntActiO95427, 11 interactors
STRINGi9606.ENSP00000350263

PTM databases

GlyConnecti1284
iPTMnetiO95427
PhosphoSitePlusiO95427
SwissPalmiO95427

Polymorphism and mutation databases

BioMutaiPIGN

Proteomic databases

EPDiO95427
jPOSTiO95427
MassIVEiO95427
MaxQBiO95427
PaxDbiO95427
PeptideAtlasiO95427
PRIDEiO95427
ProteomicsDBi50868

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23556
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000357637; ENSP00000350263; ENSG00000197563
ENST00000400334; ENSP00000383188; ENSG00000197563
ENST00000638936; ENSP00000492592; ENSG00000197563
ENST00000640050; ENSP00000492051; ENSG00000197563
ENST00000640145; ENSP00000491525; ENSG00000197563
ENST00000640252; ENSP00000492233; ENSG00000197563
ENST00000640876; ENSP00000491628; ENSG00000197563
GeneIDi23556
KEGGihsa:23556
UCSCiuc021ulb.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23556
DisGeNETi23556

GeneCards: human genes, protein and diseases

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GeneCardsi
PIGN
HGNCiHGNC:8967 PIGN
HPAiHPA039922
HPA040374
MalaCardsiPIGN
MIMi606097 gene
614080 phenotype
neXtProtiNX_O95427
OpenTargetsiENSG00000197563
Orphaneti2059 Fryns syndrome
280633 Multiple congenital anomalies-hypotonia-seizures syndrome
PharmGKBiPA33298

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2124 Eukaryota
COG1524 LUCA
GeneTreeiENSGT00390000017600
HOGENOMiHOG000170818
InParanoidiO95427
KOiK05285
OMAiGKPKSHL
OrthoDBi270107at2759
PhylomeDBiO95427
TreeFamiTF300506

Enzyme and pathway databases

UniPathwayiUPA00196
ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

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

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ChiTaRSi
PIGN human

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

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GenomeRNAii
23556

Pharos

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Pharosi
O95427

Protein Ontology

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PROi
PR:O95427

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197563 Expressed in 187 organ(s), highest expression level in corpus callosum
ExpressionAtlasiO95427 baseline and differential
GenevisibleiO95427 HS

Family and domain databases

CDDicd16020 GPI_EPT_1, 1 hit
Gene3Di3.40.720.10, 1 hit
InterProiView protein in InterPro
IPR017850 Alkaline_phosphatase_core_sf
IPR007070 GPI_EtnP_transferase_1
IPR017852 GPI_EtnP_transferase_1_C
IPR002591 Phosphodiest/P_Trfase
IPR037671 PIGN_N
PANTHERiPTHR12250 PTHR12250, 1 hit
PfamiView protein in Pfam
PF01663 Phosphodiest, 1 hit
PF04987 PigN, 1 hit
SUPFAMiSSF53649 SSF53649, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiPIGN_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: O95427
Secondary accession number(s): Q7L8F8, Q8TC01, Q9NT05
<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: July 25, 2006
Last sequence update: May 1, 1999
Last modified: September 18, 2019
This is version 133 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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