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Protein

N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase

Gene

PIGL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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

Catalytic activityi

6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H2O = 6-(alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + acetate.

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.

GO - Molecular functioni

GO - Biological processi

  • GPI anchor biosynthetic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome

Keywordsi

Molecular functionHydrolase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

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

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108474.16
HGNCiHGNC:8966 PIGL
MIMi605947 gene
neXtProtiNX_Q9Y2B2

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
Transmembranei2 – 22HelicalSequence analysisAdd BLAST21
Topological domaini23 – 252CytoplasmicSequence analysisAdd BLAST230

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

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.
See also OMIM:280000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068221167L → P in CHIME. 1 PublicationCorresponds to variant dbSNP:rs145303331EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

DisGeNETi9487
MalaCardsiPIGL
MIMi280000 phenotype
OpenTargetsiENSG00000108474
Orphaneti3474 CHIME syndrome
PharmGKBiPA33297

Polymorphism and mutation databases

BioMutaiPIGL
DMDMi14916637

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002071671 – 252N-acetylglucosaminyl-phosphatidylinositol de-N-acetylaseAdd BLAST252

Proteomic databases

EPDiQ9Y2B2
PaxDbiQ9Y2B2
PeptideAtlasiQ9Y2B2
PRIDEiQ9Y2B2

PTM databases

iPTMnetiQ9Y2B2
PhosphoSitePlusiQ9Y2B2

Expressioni

Gene expression databases

BgeeiENSG00000108474
CleanExiHS_PIGL
ExpressionAtlasiQ9Y2B2 baseline and differential
GenevisibleiQ9Y2B2 HS

Organism-specific databases

HPAiHPA012739

Interactioni

Protein-protein interaction databases

BioGridi114869, 1 interactor
STRINGi9606.ENSP00000225609

Structurei

3D structure databases

ProteinModelPortaliQ9Y2B2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGL family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3332 Eukaryota
COG2120 LUCA
GeneTreeiENSGT00390000018434
HOGENOMiHOG000176611
HOVERGENiHBG019149
InParanoidiQ9Y2B2
KOiK03434
OMAiLVWFRWL
OrthoDBiEOG091G0HS4
PhylomeDBiQ9Y2B2
TreeFamiTF315150

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y2B2-1) [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
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
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

Note: No experimental confirmation available.
Show »
Length:194
Mass (Da):21,578
Checksum:iDF431806D5CE007C
GO

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
Alternative sequenceiVSP_056886177 – 251CSVLT…NSLSF → KACSFCKGPQDTVPLRN in isoform 2. 1 PublicationAdd BLAST75

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]
UniGeneiHs.499793
Hs.625050

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Entry informationi

Entry nameiPIGL_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2B2
Secondary accession number(s): A8KA67, B4DYN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2001
Last sequence update: November 1, 1999
Last modified: March 28, 2018
This is version 138 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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