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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 complex catalyzing the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol, the first step of GPI biosynthesis.

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

<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

  • carbohydrate metabolic process Source: ProtInc
  • preassembly of GPI anchor in ER membrane Source: Reactome

<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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.4.1.198 2681

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:
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q (EC:2.4.1.198)
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_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:PIGQ
Synonyms:GPI1
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000007541.15

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

<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; 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 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

Organism-specific databases

DisGeNET

More...
DisGeNETi
9091

MalaCards human disease database

More...
MalaCardsi
PIGQ

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

Polymorphism and mutation 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_processing_section">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.<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

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 human proteome resource

More...
ProteomicsDBi
78753
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

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Bgeei
ENSG00000007541 Expressed in 137 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

More...
CleanExi
HS_PIGQ

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
HPA039105
HPA039828
HPA061414

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

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

Associates with PIGA, PIGC, PIGH, PIGP and DPM2. The latter is not essential for activity.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
114545, 23 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q9BRB3

Protein interaction database and analysis system

More...
IntActi
Q9BRB3, 4 interactors

Molecular INTeraction database

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MINTi
Q9BRB3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000026218

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9BRB3

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

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

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eggNOGi
KOG1183 Eukaryota
ENOG410XSXI LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004994

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG036559

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9BRB3

KEGG Orthology (KO)

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KOi
K03860

Database of Orthologous Groups

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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

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)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.

<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 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.<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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
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
Note: No experimental confirmation available.
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.

Note: No experimental confirmation available.
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>
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>
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>
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
<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_01559614T → A2 PublicationsCorresponds to variant dbSNP:rs2071979Ensembl.1
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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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

NCBI Reference Sequences

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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.741878
Hs.744949

Genome annotation databases

Ensembl eukaryotic genome annotation project

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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

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GeneIDi
9091

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9091

UCSC genome browser

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UCSCi
uc002chm.4 human [Q9BRB3-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
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]
UniGeneiHs.741878
Hs.744949

3D structure databases

ProteinModelPortaliQ9BRB3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114545, 23 interactors
CORUMiQ9BRB3
IntActiQ9BRB3, 4 interactors
MINTiQ9BRB3
STRINGi9606.ENSP00000026218

PTM databases

iPTMnetiQ9BRB3
PhosphoSitePlusiQ9BRB3

Polymorphism and mutation databases

BioMutaiPIGQ
DMDMi30173119

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9091
Structural Biology KnowledgebaseSearch...

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

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CTDi
9091
DisGeNETi9091
EuPathDBiHostDB:ENSG00000007541.15

GeneCards: human genes, protein and diseases

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GeneCardsi
PIGQ
HGNCiHGNC:14135 PIGQ
HPAiHPA039105
HPA039828
HPA061414
MalaCardsiPIGQ
MIMi605754 gene
neXtProtiNX_Q9BRB3
OpenTargetsiENSG00000007541
Orphaneti1934 Early infantile epileptic encephalopathy
PharmGKBiPA33299

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1183 Eukaryota
ENOG410XSXI LUCA
GeneTreeiENSGT00390000004994
HOVERGENiHBG036559
InParanoidiQ9BRB3
KOiK03860
OrthoDBi1247641at2759
PhylomeDBiQ9BRB3
TreeFamiTF321258

Enzyme and pathway databases

UniPathwayi
UPA00196

BRENDAi2.4.1.198 2681
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
PIGQ human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PIGQ

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

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GenomeRNAii
9091

Protein Ontology

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PROi
PR:Q9BRB3

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000007541 Expressed in 137 organ(s), highest expression level in adult mammalian kidney
CleanExiHS_PIGQ
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

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ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry 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_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: April 23, 2003
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 148 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
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