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UniProtKB - P37287 (PIGA_HUMAN)

Entry version 190 (25 May 2022)
Sequence version 1 (01 Oct 1994)
Previous versions | rss
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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Gene

PIGA

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

Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'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.1 Publication
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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionGlycosyltransferase, Transferase
Biological processGPI-anchor biosynthesis, Lipid metabolism

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P37287

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P37287

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

More...UniPathwayi		UPA00196

Protein family/group databases

Carbohydrate-Active enZymes

More...CAZyi		GT4, Glycosyltransferase Family 4

<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%5Fand%5Ftaxonomy%5Fsection">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:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit ACurated (EC:2.4.1.1981 Publication)
Alternative name(s):
GlcNAc-PI synthesis protein
Phosphatidylinositol-glycan biosynthesis class A protein
Short name:
PIG-A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:PIGAImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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:8957, PIGA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		311770, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P37287

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000165195

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 – 421CytoplasmicCuratedAdd BLAST421
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 484LumenalCuratedAdd BLAST42

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

Paroxysmal nocturnal hemoglobinuria 1 (PNH1)5 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning.
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_01544219R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225EnsemblClinVar.1
Natural variantiVAR_01543640D → H in PNH1. 1 Publication1
Natural variantiVAR_01543748G → A in PNH1. 1 Publication1
Natural variantiVAR_01543848G → D in PNH1. 1 Publication1
Natural variantiVAR_01543948G → V in PNH1. 1 Publication1
Natural variantiVAR_015440128H → R in PNH1. 1 Publication1
Natural variantiVAR_005531155S → F in PNH1. 1 Publication1
Natural variantiVAR_015441239G → R in PNH1. 1 Publication1
Natural variantiVAR_005532297N → D in PNH1. 1 Publication1
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Most affected individuals die in infancy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07106977R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398EnsemblClinVar.1
Natural variantiVAR_07107093P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400EnsemblClinVar.1
Natural variantiVAR_071071119R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396EnsemblClinVar.1
Natural variantiVAR_071072206I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959EnsemblClinVar.1
Natural variantiVAR_071073344Missing in MCAHS2. 1 Publication1
Natural variantiVAR_078721355L → S in MCAHS2; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		5277

MalaCards human disease database

More...MalaCardsi		PIGA
MIMi300818, phenotype
300868, phenotype

Open Targets

More...OpenTargetsi		ENSG00000165195

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

More...Orphaneti		397922, Ferro-cerebro-cutaneous syndrome
3451, Infantile spasms syndrome
293181, Malignant migrating focal seizures of infancy
300496, Multiple congenital anomalies-hypotonia-seizures syndrome type 2
447, Paroxysmal nocturnal hemoglobinuria

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33288

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P37287, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGA

Domain mapping of disease mutations (DMDM)

More...DMDMi		585696

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000803261 – 484Phosphatidylinositol N-acetylglucosaminyltransferase subunit AAdd BLAST484

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei21PhosphoserineCombined sources1
Modified residuei24PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi467N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P37287

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P37287

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P37287

MaxQB - The MaxQuant DataBase

More...MaxQBi		P37287

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

More...PaxDbi		P37287

PeptideAtlas

More...PeptideAtlasi		P37287

PRoteomics IDEntifications database

More...PRIDEi		P37287

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55273 [P37287-1]
55274 [P37287-2]
55275 [P37287-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P37287, 1 site

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P37287

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

More...PhosphoSitePlusi		P37287

<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		ENSG00000165195, Expressed in bone marrow and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P37287, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P37287, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000165195, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366).

Interacts with PIGC, PIGH, PIGP, PIGQ and DPM2 (PubMed:16162815).

Interacts directly with PIGY; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815).

Interacts with PIGQ (PubMed:9463366).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111295, 46 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P37287

Protein interaction database and analysis system

More...IntActi		P37287, 27 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000369820

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P37287, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P37287

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P37287

Database of comparative protein structure models

More...ModBasei		Search...

<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 glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1111, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014405

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009583_19_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P37287

Identification of Orthologs from Complete Genome Data

More...OMAi		FFCPNAG

Database for complete collections of gene phylogenies

More...PhylomeDBi		P37287

TreeFam database of animal gene trees

More...TreeFami		TF105675

Family and domain databases

Conserved Domains Database

More...CDDi		cd03796, GT4_PIG-A-like, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001296, Glyco_trans_1
IPR039507, PIG-A/GPI3
IPR013234, PIGA_GPI_anchor_biosynthesis

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00534, Glycos_transf_1, 1 hit
PF08288, PIGA, 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%5Flength">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>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 <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 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P37287-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE 
        60         70         80         90        100
SHIYQLSQCL IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ 
       110        120        130        140        150
STATTLFHSL PLLRYIFVRE RVTIIHSHSS FSAMAHDALF HAKTMGLQTV 
       160        170        180        190        200
FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH IICVSYTSKE NTVLRAALNP 
       210        220        230        240        250
EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI DLLSGIIPEL 
       260        270        280        290        300
CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV 
       310        320        330        340        350
QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP 
       360        370        380        390        400
SVKSLCEGLE KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR 
       410        420        430        440        450
VSVEAVLPMD KRLDRLISHC GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI 
       460        470        480 
IDVAIDATGP RGAWTNNYSH SKRGGENNEI SETR
Length:484
Mass (Da):54,127
Last modified:October 1, 1994 - 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:i34DCD074A3920852
GO
Isoform 2 (identifier: P37287-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-283: Missing.

Show »
Length:315
Mass (Da):35,078
Checksum:i3F443EA94F271865
GO
Isoform 3 (identifier: P37287-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-4: MACR → MELT
     5-238: Missing.

Show »
Length:250
Mass (Da):28,034
Checksum:i78823EE49BCD9AF6
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B3KUV7B3KUV7_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA hCG_1783055
169Annotation 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>
A0A0U1RQM9A0A0U1RQM9_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
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>
A0A0U1RQW8A0A0U1RQW8_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
152Annotation 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>
A0A0U1RRE8A0A0U1RRE8_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
99Annotation 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>
A0A1B0GU19A0A1B0GU19_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
274Annotation 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>
A8K382A8K382_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
118Annotation 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>
A0A0U1RQF5A0A0U1RQF5_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
51Annotation 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>
A0A1B0GVE5A0A1B0GVE5_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGA
44Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01544219R → W in PNH1. 1 PublicationCorresponds to variant dbSNP:rs34422225EnsemblClinVar.1
Natural variantiVAR_01543640D → H in PNH1. 1 Publication1
Natural variantiVAR_01543748G → A in PNH1. 1 Publication1
Natural variantiVAR_01543848G → D in PNH1. 1 Publication1
Natural variantiVAR_01543948G → V in PNH1. 1 Publication1
Natural variantiVAR_07106977R → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777398EnsemblClinVar.1
Natural variantiVAR_07107093P → L in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777400EnsemblClinVar.1
Natural variantiVAR_071071119R → W in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs587777396EnsemblClinVar.1
Natural variantiVAR_015440128H → R in PNH1. 1 Publication1
Natural variantiVAR_078230135A → V Probable disease-associated variant found in a patient with infantile onset epileptic encephalopathy with dyskinesia and microcephaly. 1 Publication1
Natural variantiVAR_005531155S → F in PNH1. 1 Publication1
Natural variantiVAR_071072206I → F in MCAHS2. 1 PublicationCorresponds to variant dbSNP:rs201119959EnsemblClinVar.1
Natural variantiVAR_015441239G → R in PNH1. 1 Publication1
Natural variantiVAR_005532297N → D in PNH1. 1 Publication1
Natural variantiVAR_071073344Missing in MCAHS2. 1 Publication1
Natural variantiVAR_078721355L → S in MCAHS2; unknown pathological significance. 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_0433661 – 4MACR → MELT in isoform 3. 1 Publication4
Alternative sequenceiVSP_0433675 – 238Missing in isoform 3. 1 PublicationAdd BLAST234
Alternative sequenceiVSP_001802115 – 283Missing in isoform 2. 1 PublicationAdd BLAST169

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
D11466 mRNA Translation: BAA02019.1
X77725 X77728 Genomic DNA Translation: CAB57276.1 Sequence problems.
D28791 Genomic DNA Translation: BAA05966.1
S74936 mRNA Translation: AAD14160.1
AK303538 mRNA Translation: BAG64564.1
AC095351 Genomic DNA No translation available.
BC038236 mRNA Translation: AAH38236.1
S61523 mRNA Translation: AAD13929.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14165.1 [P37287-1]
CCDS48086.2 [P37287-3]

Protein sequence database of the Protein Information Resource

More...PIRi		A46217

NCBI Reference Sequences

More...RefSeqi		NP_002632.1, NM_002641.3 [P37287-1]
NP_065206.3, NM_020473.3 [P37287-3]
XP_016885070.1, XM_017029581.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000333590.6; ENSP00000369820.3; ENSG00000165195.16
ENST00000482148.6; ENSP00000489528.1; ENSG00000165195.16 [P37287-2]
ENST00000542278.6; ENSP00000442653.2; ENSG00000165195.16
ENST00000634582.1; ENSP00000489540.1; ENSG00000165195.16 [P37287-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5277

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5277

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000333590.6; ENSP00000369820.3; NM_002641.4; NP_002632.1

UCSC genome browser

More...UCSCi		uc004cwr.4, human [P37287-1]

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%5Freferences%5Fsection">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

Functional Glycomics Gateway - GTase

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D11466 mRNA Translation: BAA02019.1
X77725 X77728 Genomic DNA Translation: CAB57276.1 Sequence problems.
D28791 Genomic DNA Translation: BAA05966.1
S74936 mRNA Translation: AAD14160.1
AK303538 mRNA Translation: BAG64564.1
AC095351 Genomic DNA No translation available.
BC038236 mRNA Translation: AAH38236.1
S61523 mRNA Translation: AAD13929.1
CCDSiCCDS14165.1 [P37287-1]
CCDS48086.2 [P37287-3]
PIRiA46217
RefSeqiNP_002632.1, NM_002641.3 [P37287-1]
NP_065206.3, NM_020473.3 [P37287-3]
XP_016885070.1, XM_017029581.1

3D structure databases

AlphaFoldDBiP37287
SMRiP37287
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111295, 46 interactors
CORUMiP37287
IntActiP37287, 27 interactors
STRINGi9606.ENSP00000369820

Protein family/group databases

CAZyiGT4, Glycosyltransferase Family 4

PTM databases

GlyGeniP37287, 1 site
iPTMnetiP37287
PhosphoSitePlusiP37287

Genetic variation databases

BioMutaiPIGA
DMDMi585696

Proteomic databases

EPDiP37287
jPOSTiP37287
MassIVEiP37287
MaxQBiP37287
PaxDbiP37287
PeptideAtlasiP37287
PRIDEiP37287
ProteomicsDBi55273 [P37287-1]
55274 [P37287-2]
55275 [P37287-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23929, 211 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		5277

Genome annotation databases

EnsembliENST00000333590.6; ENSP00000369820.3; ENSG00000165195.16
ENST00000482148.6; ENSP00000489528.1; ENSG00000165195.16 [P37287-2]
ENST00000542278.6; ENSP00000442653.2; ENSG00000165195.16
ENST00000634582.1; ENSP00000489540.1; ENSG00000165195.16 [P37287-3]
GeneIDi5277
KEGGihsa:5277
MANE-SelectiENST00000333590.6; ENSP00000369820.3; NM_002641.4; NP_002632.1
UCSCiuc004cwr.4, human [P37287-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5277
DisGeNETi5277

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGA
HGNCiHGNC:8957, PIGA
HPAiENSG00000165195, Low tissue specificity
MalaCardsiPIGA
MIMi300818, phenotype
300868, phenotype
311770, gene
neXtProtiNX_P37287
OpenTargetsiENSG00000165195
Orphaneti397922, Ferro-cerebro-cutaneous syndrome
3451, Infantile spasms syndrome
293181, Malignant migrating focal seizures of infancy
300496, Multiple congenital anomalies-hypotonia-seizures syndrome type 2
447, Paroxysmal nocturnal hemoglobinuria
PharmGKBiPA33288
VEuPathDBiHostDB:ENSG00000165195

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1111, Eukaryota
GeneTreeiENSGT00390000014405
HOGENOMiCLU_009583_19_3_1
InParanoidiP37287
OMAiFFCPNAG
PhylomeDBiP37287
TreeFamiTF105675

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiP37287
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)
SignaLinkiP37287

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5277, 18 hits in 705 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGA

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

More...GenomeRNAii		5277
PharosiP37287, Tbio

Protein Ontology

More...PROi		PR:P37287
RNActiP37287, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165195, Expressed in bone marrow and 227 other tissues
ExpressionAtlasiP37287, baseline and differential
GenevisibleiP37287, HS

Family and domain databases

CDDicd03796, GT4_PIG-A-like, 1 hit
InterProiView protein in InterPro
IPR001296, Glyco_trans_1
IPR039507, PIG-A/GPI3
IPR013234, PIGA_GPI_anchor_biosynthesis
PfamiView protein in Pfam
PF00534, Glycos_transf_1, 1 hit
PF08288, PIGA, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...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 nameiPIGA_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: P37287
Secondary accession number(s): B4E0V2, Q16025, Q16250
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 1, 1994
Last modified: May 25, 2022
This is version 190 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

Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. SIMILARITY comments
    Index of protein domains and families
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