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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-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

  • N-acetylglucosaminylphosphatidylinositol deacetylase activity Source: UniProtKB

GO - Biological processi

  • GPI anchor biosynthetic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

GPI-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

HGNCiHGNC:8966. PIGL.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei2 – 2221HelicalSequence analysisAdd
BLAST
Topological domaini23 – 252230CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti167 – 1671L → P in CHIME. 1 Publication
Corresponds to variant rs145303331 [ dbSNP | Ensembl ].
VAR_068221

Keywords - Diseasei

Deafness, Disease mutation, Ichthyosis, Mental retardation

Organism-specific databases

MalaCardsiPIGL.
MIMi280000. phenotype.
Orphaneti3474. CHIME syndrome.
PharmGKBiPA33297.

Polymorphism and mutation databases

BioMutaiPIGL.
DMDMi14916637.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 252252N-acetylglucosaminyl-phosphatidylinositol de-N-acetylasePRO_0000207167Add
BLAST

Proteomic databases

EPDiQ9Y2B2.
MaxQBiQ9Y2B2.
PaxDbiQ9Y2B2.
PeptideAtlasiQ9Y2B2.
PRIDEiQ9Y2B2.

Expressioni

Gene expression databases

BgeeiQ9Y2B2.
CleanExiHS_PIGL.
ExpressionAtlasiQ9Y2B2. baseline and differential.
GenevisibleiQ9Y2B2. HS.

Organism-specific databases

HPAiHPA012739.

Interactioni

Protein-protein interaction databases

BioGridi114869. 1 interaction.
MINTiMINT-2822987.
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.
OMAiHSNHIAL.
PhylomeDBiQ9Y2B2.
TreeFamiTF315150.

Family and domain databases

Gene3Di3.40.50.10320. 1 hit.
InterProiIPR003737. GlcNAc_PI_deacetylase-related.
IPR024078. LmbE-like_dom.
[Graphical view]
PANTHERiPTHR12993. PTHR12993. 1 hit.
PfamiPF02585. PIG-L. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti167 – 1671L → P in CHIME. 1 Publication
Corresponds to variant rs145303331 [ dbSNP | Ensembl ].
VAR_068221

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei177 – 25175CSVLT…NSLSF → KACSFCKGPQDTVPLRN in isoform 2. 1 PublicationVSP_056886Add
BLAST

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]
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

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]
UniGeneiHs.499793.
Hs.625050.

3D structure databases

ProteinModelPortaliQ9Y2B2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114869. 1 interaction.
MINTiMINT-2822987.
STRINGi9606.ENSP00000225609.

Polymorphism and mutation databases

BioMutaiPIGL.
DMDMi14916637.

Proteomic databases

EPDiQ9Y2B2.
MaxQBiQ9Y2B2.
PaxDbiQ9Y2B2.
PeptideAtlasiQ9Y2B2.
PRIDEiQ9Y2B2.

Protocols and materials databases

DNASUi9487.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi9487.
GeneCardsiPIGL.
HGNCiHGNC:8966. PIGL.
HPAiHPA012739.
MalaCardsiPIGL.
MIMi280000. phenotype.
605947. gene.
neXtProtiNX_Q9Y2B2.
Orphaneti3474. CHIME syndrome.
PharmGKBiPA33297.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3332. Eukaryota.
COG2120. LUCA.
GeneTreeiENSGT00390000018434.
HOGENOMiHOG000176611.
HOVERGENiHBG019149.
InParanoidiQ9Y2B2.
KOiK03434.
OMAiHSNHIAL.
PhylomeDBiQ9Y2B2.
TreeFamiTF315150.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiPIGL. human.
GenomeRNAii9487.
PROiQ9Y2B2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y2B2.
CleanExiHS_PIGL.
ExpressionAtlasiQ9Y2B2. baseline and differential.
GenevisibleiQ9Y2B2. HS.

Family and domain databases

Gene3Di3.40.50.10320. 1 hit.
InterProiIPR003737. GlcNAc_PI_deacetylase-related.
IPR024078. LmbE-like_dom.
[Graphical view]
PANTHERiPTHR12993. PTHR12993. 1 hit.
PfamiPF02585. PIG-L. 1 hit.
[Graphical view]
SUPFAMiSSF102588. SSF102588. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Mammalian PIG-L and its yeast homologue Gpi12p are N-acetylglucosaminylphosphatidylinositol de-N-acetylases essential in glycosylphosphatidylinositol biosynthesis."
    Watanabe R., Ohishi K., Maeda Y., Nakamura N., Kinoshita T.
    Biochem. J. 339:185-192(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Testis and Trachea.
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: VARIANT CHIME PRO-167.

Entry informationi

Entry nameiPIGL_HUMAN
AccessioniPrimary (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: July 6, 2016
This is version 126 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.