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UniProtKB - Q92535 (PIGC_HUMAN)

Entry version 170 (25 May 2022)
Sequence version 1 (01 Feb 1997)
Previous versions | rss
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Protein

Phosphatidylinositol N-acetylglucosaminyltransferase subunit C

Gene

PIGC

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.

3 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.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

  • catalytic activity Source: ProtInc
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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92535

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		Q92535

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 CCurated
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class C protein
Short name:
PIG-C
<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:PIGCImported
Synonyms:GPI2
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8960, PIGC

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601730, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92535

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000135845

<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>Transmembranei51 – 71HelicalSequence analysisAdd BLAST21
Transmembranei80 – 100HelicalSequence analysisAdd BLAST21
Transmembranei117 – 137HelicalSequence analysisAdd BLAST21
Transmembranei153 – 173HelicalSequence analysisAdd BLAST21
Transmembranei174 – 194HelicalSequence analysisAdd BLAST21
Transmembranei196 – 216HelicalSequence analysisAdd BLAST21
Transmembranei227 – 244HelicalSequence analysisAdd BLAST18
Transmembranei250 – 270HelicalSequence analysisAdd BLAST21

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

Glycosylphosphatidylinositol biosynthesis defect 16 (GPIBD16)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures.
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_08052021 – 297Missing in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationAdd BLAST277
Natural variantiVAR_080521189L → W in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259614EnsemblClinVar.1
Natural variantiVAR_080522212L → P in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259602EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		5279

MalaCards human disease database

More...MalaCardsi		PIGC
MIMi617816, phenotype

Open Targets

More...OpenTargetsi		ENSG00000135845

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

More...Orphaneti		88616, Autosomal recessive non-syndromic intellectual disability

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA33291

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92535, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PIGC

Domain mapping of disease mutations (DMDM)

More...DMDMi		14916629

<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_00000584311 – 297Phosphatidylinositol N-acetylglucosaminyltransferase subunit CAdd BLAST297

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92535

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92535

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

More...PaxDbi		Q92535

PeptideAtlas

More...PeptideAtlasi		Q92535

PRoteomics IDEntifications database

More...PRIDEi		Q92535

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75293

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92535

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

More...PhosphoSitePlusi		Q92535

<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		ENSG00000135845, Expressed in corpus callosum and 238 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92535, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000135845, 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 PIGQ (PubMed:9463366).

Interacts with the heterodimer PIGA:PIGH (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		111297, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92535

Protein interaction database and analysis system

More...IntActi		Q92535, 6 interactors

Molecular INTeraction database

More...MINTi		Q92535

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356702

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92535, 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		Q92535

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

<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 PIGC family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3059, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005496

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_024002_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92535

Identification of Orthologs from Complete Genome Data

More...OMAi		HAFVMVT

Database of Orthologous Groups

More...OrthoDBi		1241278at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92535

TreeFam database of animal gene trees

More...TreeFami		TF314325

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009450, Plno_GlcNAc_GPI2

The PANTHER Classification System

More...PANTHERi		PTHR12982, PTHR12982, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06432, GPI2, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF016104, GPI2, 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>Sequencei

<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.

Q92535-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MYAQPVTNTK EVKWQKVLYE RQPFPDNYVD RRFLEELRKN IHARKYQYWA 
        60         70         80         90        100
VVFESSVVIQ QLCSVCVFVV IWWYMDEGLL APHWLLGTGL ASSLIGYVLF 
       110        120        130        140        150
DLIDGGEGRK KSGQTRWADL KSALVFITFT YGFSPVLKTL TESVSTDTIY 
       160        170        180        190        200
AMSVFMLLGH LIFFDYGANA AIVSSTLSLN MAIFASVCLA SRLPRSLHAF 
       210        220        230        240        250
IMVTFAIQIF ALWPMLQKKL KACTPRSYVG VTLLFAFSAV GGLLSISAVG 
       260        270        280        290 
AVLFALLLMS ISCLCPFYLI RLQLFKENIH GPWDEAEIKE DLSRFLS
Length:297
Mass (Da):33,583
Last modified:February 1, 1997 - 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:iBD9584C5D5203A4B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08052021 – 297Missing in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationAdd BLAST277
Natural variantiVAR_080521189L → W in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259614EnsemblClinVar.1
Natural variantiVAR_080522212L → P in GPIBD16; decreased function in GPI-anchor biosynthesis as indicated by reduced surface expression of various GPI-anchored proteins. 1 PublicationCorresponds to variant dbSNP:rs1553259602EnsemblClinVar.1
Natural variantiVAR_011360266P → S1 PublicationCorresponds to variant dbSNP:rs1063412Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
D85418 mRNA Translation: BAA12812.1
AB000360 Genomic DNA Translation: BAA22866.1
BT006734 mRNA Translation: AAP35380.1
CR450292 mRNA Translation: CAG29288.1
Z97195 Genomic DNA No translation available.
BC006539 mRNA Translation: AAH06539.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1302.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC4969

NCBI Reference Sequences

More...RefSeqi		NP_002633.1, NM_002642.3
NP_714969.1, NM_153747.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344529.5; ENSP00000356701.3; ENSG00000135845.10
ENST00000367728.1; ENSP00000356702.1; ENSG00000135845.10

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5279

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5279

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

More...MANE-Selecti		ENST00000344529.5; ENSP00000356701.3; NM_153747.2; NP_714969.1

UCSC genome browser

More...UCSCi		uc001gio.4, human

<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 C8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D85418 mRNA Translation: BAA12812.1
AB000360 Genomic DNA Translation: BAA22866.1
BT006734 mRNA Translation: AAP35380.1
CR450292 mRNA Translation: CAG29288.1
Z97195 Genomic DNA No translation available.
BC006539 mRNA Translation: AAH06539.1
CCDSiCCDS1302.1
PIRiJC4969
RefSeqiNP_002633.1, NM_002642.3
NP_714969.1, NM_153747.1

3D structure databases

AlphaFoldDBiQ92535
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi111297, 11 interactors
CORUMiQ92535
IntActiQ92535, 6 interactors
MINTiQ92535
STRINGi9606.ENSP00000356702

PTM databases

iPTMnetiQ92535
PhosphoSitePlusiQ92535

Genetic variation databases

BioMutaiPIGC
DMDMi14916629

Proteomic databases

MassIVEiQ92535
MaxQBiQ92535
PaxDbiQ92535
PeptideAtlasiQ92535
PRIDEiQ92535
ProteomicsDBi75293

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34384, 89 antibodies from 24 providers

The DNASU plasmid repository

More...DNASUi		5279

Genome annotation databases

EnsembliENST00000344529.5; ENSP00000356701.3; ENSG00000135845.10
ENST00000367728.1; ENSP00000356702.1; ENSG00000135845.10
GeneIDi5279
KEGGihsa:5279
MANE-SelectiENST00000344529.5; ENSP00000356701.3; NM_153747.2; NP_714969.1
UCSCiuc001gio.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5279
DisGeNETi5279

GeneCards: human genes, protein and diseases

More...GeneCardsi		PIGC
HGNCiHGNC:8960, PIGC
HPAiENSG00000135845, Low tissue specificity
MalaCardsiPIGC
MIMi601730, gene
617816, phenotype
neXtProtiNX_Q92535
OpenTargetsiENSG00000135845
Orphaneti88616, Autosomal recessive non-syndromic intellectual disability
PharmGKBiPA33291
VEuPathDBiHostDB:ENSG00000135845

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3059, Eukaryota
GeneTreeiENSGT00390000005496
HOGENOMiCLU_024002_0_0_1
InParanoidiQ92535
OMAiHAFVMVT
OrthoDBi1241278at2759
PhylomeDBiQ92535
TreeFamiTF314325

Enzyme and pathway databases

UniPathwayiUPA00196
PathwayCommonsiQ92535
ReactomeiR-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI)
SignaLinkiQ92535

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5279, 86 hits in 1067 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PIGC

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

More...GenomeRNAii		5279
PharosiQ92535, Tbio

Protein Ontology

More...PROi		PR:Q92535
RNActiQ92535, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000135845, Expressed in corpus callosum and 238 other tissues
GenevisibleiQ92535, HS

Family and domain databases

InterProiView protein in InterPro
IPR009450, Plno_GlcNAc_GPI2
PANTHERiPTHR12982, PTHR12982, 1 hit
PfamiView protein in Pfam
PF06432, GPI2, 1 hit
PIRSFiPIRSF016104, GPI2, 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 nameiPIGC_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: Q92535
Secondary accession number(s): O14491
<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: July 11, 2001
Last sequence update: February 1, 1997
Last modified: May 25, 2022
This is version 170 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 1
    Human chromosome 1: 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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