UniProtKB - Q9Y2B2 (PIGL_HUMAN)
Protein
N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase
Gene
PIGL
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the second step of GPI biosynthesis. De-N-acetylation of N-acetylglucosaminyl-phosphatidylinositol.
Catalytic activityi
- a 6-(N-acetyl-α-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H2O = a 6-(α-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetateEC:3.5.1.89
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
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.
GO - Molecular functioni
- hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides Source: GO_Central
- N-acetylglucosaminylphosphatidylinositol deacetylase activity Source: GO_Central
GO - Biological processi
- GPI anchor biosynthetic process Source: GO_Central
- preassembly of GPI anchor in ER membrane Source: Reactome
Keywordsi
Molecular function | Hydrolase |
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
BRENDAi | 3.5.1.89, 2681 |
PathwayCommonsi | Q9Y2B2 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
UniPathwayi | UPA00196 |
Chemistry databases
SwissLipidsi | SLP:000001964 |
Names & Taxonomyi
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 |
Gene namesi | Name:PIGL |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:8966, PIGL |
MIMi | 605947, gene |
neXtProti | NX_Q9Y2B2 |
VEuPathDBi | HostDB:ENSG00000108474.16 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane By similarity; Single-pass membrane protein By similarity
Endoplasmic reticulum
- endoplasmic reticulum Source: GO_Central
- endoplasmic reticulum membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 2 – 22 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 23 – 252 | CytoplasmicSequence analysisAdd BLAST | 230 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME)1 Publication
The disease is caused by variants 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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068221 | 167 | L → P in CHIME. 1 PublicationCorresponds to variant dbSNP:rs145303331EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Ichthyosis, Mental retardationOrganism-specific databases
DisGeNETi | 9487 |
MalaCardsi | PIGL |
MIMi | 280000, phenotype |
OpenTargetsi | ENSG00000108474 |
Orphaneti | 3474, CHIME syndrome 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA33297 |
Miscellaneous databases
Pharosi | Q9Y2B2, Tbio |
Genetic variation databases
BioMutai | PIGL |
DMDMi | 14916637 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000207167 | 1 – 252 | N-acetylglucosaminyl-phosphatidylinositol de-N-acetylaseAdd BLAST | 252 |
Proteomic databases
EPDi | Q9Y2B2 |
jPOSTi | Q9Y2B2 |
MassIVEi | Q9Y2B2 |
PaxDbi | Q9Y2B2 |
PeptideAtlasi | Q9Y2B2 |
PRIDEi | Q9Y2B2 |
ProteomicsDBi | 85718 [Q9Y2B2-1] |
PTM databases
iPTMneti | Q9Y2B2 |
PhosphoSitePlusi | Q9Y2B2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000108474, Expressed in corpus callosum and 195 other tissues |
ExpressionAtlasi | Q9Y2B2, baseline and differential |
Genevisiblei | Q9Y2B2, HS |
Organism-specific databases
HPAi | ENSG00000108474, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 114869, 1 interactor |
IntActi | Q9Y2B2, 2 interactors |
STRINGi | 9606.ENSP00000225609 |
Miscellaneous databases
RNActi | Q9Y2B2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the PIGL family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3332, Eukaryota |
GeneTreei | ENSGT00390000018434 |
HOGENOMi | CLU_034979_1_0_1 |
InParanoidi | Q9Y2B2 |
OMAi | WFRWLYV |
OrthoDBi | 1454301at2759 |
PhylomeDBi | Q9Y2B2 |
TreeFami | TF315150 |
Family and domain databases
Gene3Di | 3.40.50.10320, 1 hit |
InterProi | View protein in InterPro IPR003737, GlcNAc_PI_deacetylase-related IPR039516, GPI12 IPR024078, LmbE-like_dom_sf |
PANTHERi | PTHR12993, PTHR12993, 1 hit PTHR12993:SF11, PTHR12993:SF11, 1 hit |
Pfami | View protein in Pfam PF02585, PIG-L, 1 hit |
SUPFAMi | SSF102588, SSF102588, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA8MTV0 | A8MTV0_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 244 | Annotation score: | ||
J3QLG8 | J3QLG8_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 188 | Annotation score: | ||
A0A096LPK2 | A0A096LPK2_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 92 | Annotation score: | ||
B4DJK6 | B4DJK6_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 101 | Annotation score: | ||
J3KSD1 | J3KSD1_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 150 | Annotation score: | ||
J3QQI7 | J3QQI7_HUMAN | N-acetylglucosaminylphosphatidylino... | PIGL | 145 | Annotation score: | ||
M0QYT4 | M0QYT4_HUMAN | N-acetylglucosaminyl-phosphatidylin... | PIGL | 102 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068221 | 167 | L → P in CHIME. 1 PublicationCorresponds to variant dbSNP:rs145303331EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056886 | 177 – 251 | CSVLT…NSLSF → KACSFCKGPQDTVPLRN in isoform 2. 1 PublicationAdd BLAST | 75 |
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 |
CCDSi | CCDS11176.1 [Q9Y2B2-1] |
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
Ensembli | ENST00000225609; ENSP00000225609; ENSG00000108474 [Q9Y2B2-1] |
GeneIDi | 9487 |
KEGGi | hsa:9487 |
UCSCi | uc002gpv.4, human [Q9Y2B2-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS11176.1 [Q9Y2B2-1] |
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] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 114869, 1 interactor |
IntActi | Q9Y2B2, 2 interactors |
STRINGi | 9606.ENSP00000225609 |
Chemistry databases
SwissLipidsi | SLP:000001964 |
PTM databases
iPTMneti | Q9Y2B2 |
PhosphoSitePlusi | Q9Y2B2 |
Genetic variation databases
BioMutai | PIGL |
DMDMi | 14916637 |
Proteomic databases
EPDi | Q9Y2B2 |
jPOSTi | Q9Y2B2 |
MassIVEi | Q9Y2B2 |
PaxDbi | Q9Y2B2 |
PeptideAtlasi | Q9Y2B2 |
PRIDEi | Q9Y2B2 |
ProteomicsDBi | 85718 [Q9Y2B2-1] |
Protocols and materials databases
Antibodypediai | 2335, 117 antibodies |
DNASUi | 9487 |
Genome annotation databases
Ensembli | ENST00000225609; ENSP00000225609; ENSG00000108474 [Q9Y2B2-1] |
GeneIDi | 9487 |
KEGGi | hsa:9487 |
UCSCi | uc002gpv.4, human [Q9Y2B2-1] |
Organism-specific databases
CTDi | 9487 |
DisGeNETi | 9487 |
GeneCardsi | PIGL |
HGNCi | HGNC:8966, PIGL |
HPAi | ENSG00000108474, Low tissue specificity |
MalaCardsi | PIGL |
MIMi | 280000, phenotype 605947, gene |
neXtProti | NX_Q9Y2B2 |
OpenTargetsi | ENSG00000108474 |
Orphaneti | 3474, CHIME syndrome 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA33297 |
VEuPathDBi | HostDB:ENSG00000108474.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3332, Eukaryota |
GeneTreei | ENSGT00390000018434 |
HOGENOMi | CLU_034979_1_0_1 |
InParanoidi | Q9Y2B2 |
OMAi | WFRWLYV |
OrthoDBi | 1454301at2759 |
PhylomeDBi | Q9Y2B2 |
TreeFami | TF315150 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
BRENDAi | 3.5.1.89, 2681 |
PathwayCommonsi | Q9Y2B2 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
Miscellaneous databases
BioGRID-ORCSi | 9487, 27 hits in 997 CRISPR screens |
ChiTaRSi | PIGL, human |
GenomeRNAii | 9487 |
Pharosi | Q9Y2B2, Tbio |
PROi | PR:Q9Y2B2 |
RNActi | Q9Y2B2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000108474, Expressed in corpus callosum and 195 other tissues |
ExpressionAtlasi | Q9Y2B2, baseline and differential |
Genevisiblei | Q9Y2B2, HS |
Family and domain databases
Gene3Di | 3.40.50.10320, 1 hit |
InterProi | View protein in InterPro IPR003737, GlcNAc_PI_deacetylase-related IPR039516, GPI12 IPR024078, LmbE-like_dom_sf |
PANTHERi | PTHR12993, PTHR12993, 1 hit PTHR12993:SF11, PTHR12993:SF11, 1 hit |
Pfami | View protein in Pfam PF02585, PIG-L, 1 hit |
SUPFAMi | SSF102588, SSF102588, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGL_HUMAN | |
Accessioni | Q9Y2B2Primary (citable) accession number: Q9Y2B2 Secondary accession number(s): A8KA67, B4DYN4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2001 |
Last sequence update: | November 1, 1999 | |
Last modified: | April 7, 2021 | |
This is version 156 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families