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Entry version 152 (17 Jun 2020)
Sequence version 1 (01 Nov 1999)
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Protein

N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Gene

PIGL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.5.1.89 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

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...
SwissLipidsi
SLP:000001964

<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:
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase (EC:3.5.1.89)
Alternative name(s):
Phosphatidylinositol-glycan biosynthesis class L protein
Short name:
PIG-L
<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:PIGL
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000108474.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8966 PIGL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
605947 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y2B2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%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>Transmembranei2 – 22HelicalSequence analysisAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 252CytoplasmicSequence analysisAdd BLAST230

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

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn extremely rare autosomal recessive multisystem disorder clinically characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, mental retardation, and ear anomalies including conductive hearing loss. Other clinical features include distinctive facial features, abnormal growth, genitourinary abnormalities, seizures, and feeding difficulties.
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_068221167L → P in CHIME. 1 PublicationCorresponds to variant dbSNP:rs145303331EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9487

MalaCards human disease database

More...
MalaCardsi
PIGL
MIMi280000 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000108474

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

More...
Orphaneti
3474 CHIME syndrome
247262 Hyperphosphatasia-intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33297

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y2B2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PIGL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
14916637

<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_00002071671 – 252N-acetylglucosaminyl-phosphatidylinositol de-N-acetylaseAdd BLAST252

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y2B2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9Y2B2

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9Y2B2

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

More...
PaxDbi
Q9Y2B2

PeptideAtlas

More...
PeptideAtlasi
Q9Y2B2

PRoteomics IDEntifications database

More...
PRIDEi
Q9Y2B2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
85718 [Q9Y2B2-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y2B2

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

More...
PhosphoSitePlusi
Q9Y2B2

<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
ENSG00000108474 Expressed in corpus callosum and 185 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9Y2B2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9Y2B2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000108474 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
114869, 1 interactor

Protein interaction database and analysis system

More...
IntActi
Q9Y2B2, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000225609

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y2B2 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

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

More...
SMRi
Q9Y2B2

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PIGL family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3332 Eukaryota
COG2120 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018434

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_034979_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9Y2B2

KEGG Orthology (KO)

More...
KOi
K03434

Identification of Orthologs from Complete Genome Data

More...
OMAi
WFRWLYV

Database of Orthologous Groups

More...
OrthoDBi
1454301at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y2B2

TreeFam database of animal gene trees

More...
TreeFami
TF315150

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
3.40.50.10320, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003737 GlcNAc_PI_deacetylase-related
IPR039516 GPI12
IPR024078 LmbE-like_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR12993 PTHR12993, 1 hit
PTHR12993:SF11 PTHR12993:SF11, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02585 PIG-L, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF102588 SSF102588, 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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <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 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2B2-1) [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
MEAMWLLCVA LAVLAWGFLW VWDSSERMKS REQGGRLGAE SRTLLVIAHP
60 70 80 90 100
DDEAMFFAPT VLGLARLRHW VYLLCFSAGN YYNQGETRKK ELLQSCDVLG
110 120 130 140 150
IPLSSVMIID NRDFPDDPGM QWDTEHVARV LLQHIEVNGI NLVVTFDAGG
160 170 180 190 200
VSGHSNHIAL YAAVRALHSE GKLPKGCSVL TLQSVNVLRK YISLLDLPLS
210 220 230 240 250
LLHTQDVLFV LNSKEVAQAK KAMSCHRSQL LWFRRLYIIF SRYMRINSLS

FL
Length:252
Mass (Da):28,531
Last modified:November 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i420454DCA51704FB
GO
Isoform 2 (identifier: Q9Y2B2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     177-251: CSVLTLQSVN...RYMRINSLSF → KACSFCKGPQDTVPLRN

Show »
Length:194
Mass (Da):21,578
Checksum:iDF431806D5CE007C
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8MTV0A8MTV0_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
244Annotation 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>
J3QLG8J3QLG8_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
188Annotation 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>
J3KSD1J3KSD1_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
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>
J3QQI7J3QQI7_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
145Annotation 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>
B4DJK6B4DJK6_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
101Annotation 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>
A0A096LPK2A0A096LPK2_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
92Annotation 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>
M0QYT4M0QYT4_HUMAN
N-acetylglucosaminyl-phosphatidylin...
PIGL
102Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068221167L → P in CHIME. 1 PublicationCorresponds to variant dbSNP:rs145303331EnsemblClinVar.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_056886177 – 251CSVLT…NSLSF → KACSFCKGPQDTVPLRN in isoform 2. 1 PublicationAdd BLAST75

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
AB017165 mRNA Translation: BAA74775.1
AK292932 mRNA Translation: BAF85621.1
AK302523 mRNA Translation: BAG63796.1
AC005971 Genomic DNA No translation available.
CH471222 Genomic DNA Translation: EAX04498.1
BC068197 mRNA Translation: AAH68197.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11176.1 [Q9Y2B2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_004269.1, NM_004278.3 [Q9Y2B2-1]
XP_016880841.1, XM_017025352.1 [Q9Y2B2-1]
XP_016880842.1, XM_017025353.1 [Q9Y2B2-1]
XP_016880845.1, XM_017025356.1 [Q9Y2B2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000225609; ENSP00000225609; ENSG00000108474 [Q9Y2B2-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9487

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9487

UCSC genome browser

More...
UCSCi
uc002gpv.4 human [Q9Y2B2-1]

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
AB017165 mRNA Translation: BAA74775.1
AK292932 mRNA Translation: BAF85621.1
AK302523 mRNA Translation: BAG63796.1
AC005971 Genomic DNA No translation available.
CH471222 Genomic DNA Translation: EAX04498.1
BC068197 mRNA Translation: AAH68197.1
CCDSiCCDS11176.1 [Q9Y2B2-1]
RefSeqiNP_004269.1, NM_004278.3 [Q9Y2B2-1]
XP_016880841.1, XM_017025352.1 [Q9Y2B2-1]
XP_016880842.1, XM_017025353.1 [Q9Y2B2-1]
XP_016880845.1, XM_017025356.1 [Q9Y2B2-2]

3D structure databases

SMRiQ9Y2B2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi114869, 1 interactor
IntActiQ9Y2B2, 2 interactors
STRINGi9606.ENSP00000225609

Chemistry databases

SwissLipidsiSLP:000001964

PTM databases

iPTMnetiQ9Y2B2
PhosphoSitePlusiQ9Y2B2

Polymorphism and mutation databases

BioMutaiPIGL
DMDMi14916637

Proteomic databases

EPDiQ9Y2B2
jPOSTiQ9Y2B2
MassIVEiQ9Y2B2
PaxDbiQ9Y2B2
PeptideAtlasiQ9Y2B2
PRIDEiQ9Y2B2
ProteomicsDBi85718 [Q9Y2B2-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
2335 115 antibodies

The DNASU plasmid repository

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DNASUi
9487

Genome annotation databases

EnsembliENST00000225609; ENSP00000225609; ENSG00000108474 [Q9Y2B2-1]
GeneIDi9487
KEGGihsa:9487
UCSCiuc002gpv.4 human [Q9Y2B2-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9487
DisGeNETi9487
EuPathDBiHostDB:ENSG00000108474.16

GeneCards: human genes, protein and diseases

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GeneCardsi
PIGL
HGNCiHGNC:8966 PIGL
HPAiENSG00000108474 Low tissue specificity
MalaCardsiPIGL
MIMi280000 phenotype
605947 gene
neXtProtiNX_Q9Y2B2
OpenTargetsiENSG00000108474
Orphaneti3474 CHIME syndrome
247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA33297

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3332 Eukaryota
COG2120 LUCA
GeneTreeiENSGT00390000018434
HOGENOMiCLU_034979_1_0_1
InParanoidiQ9Y2B2
KOiK03434
OMAiWFRWLYV
OrthoDBi1454301at2759
PhylomeDBiQ9Y2B2
TreeFamiTF315150

Enzyme and pathway databases

UniPathwayiUPA00196
BRENDAi3.5.1.89 2681
ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
9487 17 hits in 786 CRISPR screens

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

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ChiTaRSi
PIGL human

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

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GenomeRNAii
9487
PharosiQ9Y2B2 Tbio

Protein Ontology

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PROi
PR:Q9Y2B2
RNActiQ9Y2B2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000108474 Expressed in corpus callosum and 185 other tissues
ExpressionAtlasiQ9Y2B2 baseline and differential
GenevisibleiQ9Y2B2 HS

Family and domain databases

Gene3Di3.40.50.10320, 1 hit
InterProiView protein in InterPro
IPR003737 GlcNAc_PI_deacetylase-related
IPR039516 GPI12
IPR024078 LmbE-like_dom_sf
PANTHERiPTHR12993 PTHR12993, 1 hit
PTHR12993:SF11 PTHR12993:SF11, 1 hit
PfamiView protein in Pfam
PF02585 PIG-L, 1 hit
SUPFAMiSSF102588 SSF102588, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiPIGL_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: Q9Y2B2
Secondary accession number(s): A8KA67, B4DYN4
<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: November 1, 1999
Last modified: June 17, 2020
This is version 152 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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