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UniProtKB - Q9BRB3 (PIGQ_HUMAN)

Entry version 161 (07 Apr 2021)
Sequence version 3 (23 Jan 2007)
Previous versions | rss
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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q

Gene

PIGQ

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

Part 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.2 Publications

<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.2 Publications
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

Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.4.1.198, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BRB3

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) [Q9BRB3-2]

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%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 QCurated
Alternative name(s):
N-acetylglucosamyl transferase component GPI1
Phosphatidylinositol-glycan biosynthesis class Q protein
Short name:
PIG-Q
<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:PIGQImported
Synonyms:GPI1
<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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:14135, PIGQ

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605754, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BRB3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000007541.15

<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 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>Transmembranei278 – 298HelicalSequence analysisAdd BLAST21
Transmembranei349 – 371HelicalSequence analysisAdd BLAST23
Transmembranei378 – 400HelicalSequence analysisAdd BLAST23
Transmembranei446 – 468HelicalSequence analysisAdd BLAST23
Transmembranei475 – 497HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

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

Epileptic encephalopathy, early infantile, 77 (EIEE77)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE77 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. Additional clinical features include coarse, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI).
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_083110207 – 760Missing in EIEE77. 1 PublicationAdd BLAST554
Natural variantiVAR_083111400Missing in EIEE77. 2 Publications1

Keywords - Diseasei

Disease variant, Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		9091

MalaCards human disease database

More...MalaCardsi		PIGQ
MIMi618548, phenotype

Open Targets

More...OpenTargetsi		ENSG00000007541

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

More...Orphaneti		1934, Early infantile epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33299

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BRB3, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGQ

Domain mapping of disease mutations (DMDM)

More...DMDMi		30173119

<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 <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00002156642 – 760Phosphatidylinositol N-acetylglucosaminyltransferase subunit QAdd BLAST759

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BRB3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BRB3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BRB3

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

More...PaxDbi		Q9BRB3

PeptideAtlas

More...PeptideAtlasi		Q9BRB3

PRoteomics IDEntifications database

More...PRIDEi		Q9BRB3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		78753 [Q9BRB3-1]
78754 [Q9BRB3-2]
78755 [Q9BRB3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BRB3

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

More...PhosphoSitePlusi		Q9BRB3

<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		ENSG00000007541, Expressed in adult mammalian kidney and 156 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BRB3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BRB3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000007541, 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 PIGA, PIGH and PIGC (PubMed:9463366).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114545, 24 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9BRB3

Protein interaction database and analysis system

More...IntActi		Q9BRB3, 13 interactors

Molecular INTeraction database

More...MINTi		Q9BRB3

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000026218

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BRB3, protein

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi214 – 536Leu-richAdd BLAST323

<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 PIGQ family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1183, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004994

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_021157_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BRB3

Database of Orthologous Groups

More...OrthoDBi		1247641at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BRB3

TreeFam database of animal gene trees

More...TreeFami		TF321258

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007720, GlcNAc_Gpi1

The PANTHER Classification System

More...PANTHERi		PTHR21329, PTHR21329, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05024, Gpi1, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BRB3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><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
MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA 
        60         70         80         90        100
QVRQASQVGV AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER 
       110        120        130        140        150
GGTFWSCEAT HRQAPTAPGA PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR 
       160        170        180        190        200
QAGATTASTG GLAAVFDTVA RSEVLFRSDR FDEGPVRLSH WQSEGVEASI 
       210        220        230        240        250
LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL GSKLSTCEQL 
       260        270        280        290        300
RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS 
       310        320        330        340        350
RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY 
       360        370        380        390        400
HIHLWISYIH LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY 
       410        420        430        440        450
CFYVYGARLY CLKIHGLSSL WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT 
       460        470        480        490        500
LLFTILLFLL PTTALYYLVF TLLRLLVVAV QGLIHLLVDL INSLPLYSLG 
       510        520        530        540        550
LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV PQAVPWGAHL 
       560        570        580        590        600
PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA 
       610        620        630        640        650
PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG 
       660        670        680        690        700
GEHSNPRCPE HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV 
       710        720        730        740        750
EGPCQDEPPS PRHPLAPSAE QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY 
       760
LRMFPGEVAL
Length:760
Mass (Da):84,082
Last modified:January 23, 2007 - v3
<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:iDBF900ADCE08DA98
GO
Isoform 2 (identifier: Q9BRB3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     511-581: DKPTALQPRG...HGHSQPSALP → AGVKFRVLRH...PWRQRGDKQD
     582-760: Missing.

Show »
Length:581
Mass (Da):65,344
Checksum:iA5C055C7C144661D
GO
Isoform 3 (identifier: Q9BRB3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-299: KANTVASVLLDVALGLMLLSWLHGR → CGPALVSAGLGACPLAPSPSPSAPR
     300-760: Missing.

Show »
Length:299
Mass (Da):32,471
Checksum:i260AA154769F6F41
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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GVF8A0A1B0GVF8_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
253Annotation 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>
E7ERP4E7ERP4_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
574Annotation 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>
H7C336H7C336_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
238Annotation 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>
A0A0U1RQX6A0A0U1RQX6_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
103Annotation 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>
B8ZZ31B8ZZ31_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
396Annotation 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>
H0YFM9H0YFM9_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
139Annotation 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>
B8ZZ29B8ZZ29_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
111Annotation 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>
J3QTH6J3QTH6_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
148Annotation 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>
A0A1B0GVV7A0A1B0GVV7_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
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>
A0A1B0GUF6A0A1B0GUF6_HUMAN
Phosphatidylinositol N-acetylglucos...
PIGQ
142Annotation 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_01559614T → A2 PublicationsCorresponds to variant dbSNP:rs2071979Ensembl.1
Natural variantiVAR_083110207 – 760Missing in EIEE77. 1 PublicationAdd BLAST554
Natural variantiVAR_083111400Missing in EIEE77. 2 Publications1
Natural variantiVAR_053579592C → R. Corresponds to variant dbSNP:rs1045277Ensembl.1
Natural variantiVAR_053580668C → R. Corresponds to variant dbSNP:rs710924Ensembl.1
Natural variantiVAR_053581668C → Y. Corresponds to variant dbSNP:rs710925Ensembl.1

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_007279275 – 299KANTV…WLHGR → CGPALVSAGLGACPLAPSPS PSAPR in isoform 3. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_007280300 – 760Missing in isoform 3. 1 PublicationAdd BLAST461
Alternative sequenceiVSP_007281511 – 581DKPTA…PSALP → AGVKFRVLRHEAGRPLRLLM QINPLPYSRVVHTYRLPSCG CHPKHSWGALCRKLFLGELI YPWRQRGDKQD in isoform 2. 2 PublicationsAdd BLAST71
Alternative sequenceiVSP_007282582 – 760Missing in isoform 2. 2 PublicationsAdd BLAST179

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
AF030177 mRNA Translation: AAC32661.1
AB003723 mRNA Translation: BAA24948.1
AE006464 Genomic DNA Translation: AAK61235.1
Z98883 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85796.1
CH471112 Genomic DNA Translation: EAW85797.1
CH471112 Genomic DNA Translation: EAW85799.1
BC006377 mRNA Translation: AAH06377.1
BC010094 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10411.1 [Q9BRB3-1]
CCDS10412.1 [Q9BRB3-2]

NCBI Reference Sequences

More...RefSeqi		NP_004195.2, NM_004204.3 [Q9BRB3-2]
NP_683721.1, NM_148920.2 [Q9BRB3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000026218; ENSP00000026218; ENSG00000007541 [Q9BRB3-1]
ENST00000321878; ENSP00000326674; ENSG00000007541 [Q9BRB3-2]
ENST00000409527; ENSP00000386760; ENSG00000007541 [Q9BRB3-2]
ENST00000470411; ENSP00000439650; ENSG00000007541 [Q9BRB3-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9091

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9091

UCSC genome browser

More...UCSCi		uc002chm.4, human [Q9BRB3-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF030177 mRNA Translation: AAC32661.1
AB003723 mRNA Translation: BAA24948.1
AE006464 Genomic DNA Translation: AAK61235.1
Z98883 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85796.1
CH471112 Genomic DNA Translation: EAW85797.1
CH471112 Genomic DNA Translation: EAW85799.1
BC006377 mRNA Translation: AAH06377.1
BC010094 mRNA No translation available.
CCDSiCCDS10411.1 [Q9BRB3-1]
CCDS10412.1 [Q9BRB3-2]
RefSeqiNP_004195.2, NM_004204.3 [Q9BRB3-2]
NP_683721.1, NM_148920.2 [Q9BRB3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi114545, 24 interactors
CORUMiQ9BRB3
IntActiQ9BRB3, 13 interactors
MINTiQ9BRB3
STRINGi9606.ENSP00000026218

PTM databases

iPTMnetiQ9BRB3
PhosphoSitePlusiQ9BRB3

Genetic variation databases

BioMutaiPIGQ
DMDMi30173119

Proteomic databases

jPOSTiQ9BRB3
MassIVEiQ9BRB3
MaxQBiQ9BRB3
PaxDbiQ9BRB3
PeptideAtlasiQ9BRB3
PRIDEiQ9BRB3
ProteomicsDBi78753 [Q9BRB3-1]
78754 [Q9BRB3-2]
78755 [Q9BRB3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22728, 82 antibodies

The DNASU plasmid repository

More...DNASUi		9091

Genome annotation databases

EnsembliENST00000026218; ENSP00000026218; ENSG00000007541 [Q9BRB3-1]
ENST00000321878; ENSP00000326674; ENSG00000007541 [Q9BRB3-2]
ENST00000409527; ENSP00000386760; ENSG00000007541 [Q9BRB3-2]
ENST00000470411; ENSP00000439650; ENSG00000007541 [Q9BRB3-3]
GeneIDi9091
KEGGihsa:9091
UCSCiuc002chm.4, human [Q9BRB3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9091
DisGeNETi9091

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGQ
HGNCiHGNC:14135, PIGQ
HPAiENSG00000007541, Low tissue specificity
MalaCardsiPIGQ
MIMi605754, gene
618548, phenotype
neXtProtiNX_Q9BRB3
OpenTargetsiENSG00000007541
Orphaneti1934, Early infantile epileptic encephalopathy
PharmGKBiPA33299
VEuPathDBiHostDB:ENSG00000007541.15

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1183, Eukaryota
GeneTreeiENSGT00390000004994
HOGENOMiCLU_021157_2_0_1
InParanoidiQ9BRB3
OrthoDBi1247641at2759
PhylomeDBiQ9BRB3
TreeFamiTF321258

Enzyme and pathway databases

UniPathwayiUPA00196
BRENDAi2.4.1.198, 2681
PathwayCommonsiQ9BRB3
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) [Q9BRB3-2]

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9091, 18 hits in 993 CRISPR screens

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

More...ChiTaRSi		PIGQ, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGQ

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

More...GenomeRNAii		9091
PharosiQ9BRB3, Tdark

Protein Ontology

More...PROi		PR:Q9BRB3
RNActiQ9BRB3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000007541, Expressed in adult mammalian kidney and 156 other tissues
ExpressionAtlasiQ9BRB3, baseline and differential
GenevisibleiQ9BRB3, HS

Family and domain databases

InterProiView protein in InterPro
IPR007720, GlcNAc_Gpi1
PANTHERiPTHR21329, PTHR21329, 1 hit
PfamiView protein in Pfam
PF05024, Gpi1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiPIGQ_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: Q9BRB3
Secondary accession number(s): A2IDE1
, D3DU52, O14927, Q96G00, Q96S22, Q9UJH4
<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: April 23, 2003
Last sequence update: January 23, 2007
Last modified: April 7, 2021
This is version 161 of the entry and version 3 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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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