UniProtKB - Q3MUY2 (PIGY_HUMAN)
Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
PIGY
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 (PubMed:16162815).
May act by regulating the catalytic subunit PIGA (PubMed:16162815).
1 PublicationMiscellaneous
: glycosylphosphatidylinositol-anchor biosynthesis Pathwayi
This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.1 PublicationView all proteins of this organism that are known to be involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis and in Glycolipid biosynthesis.
GO - Biological processi
- GPI anchor biosynthetic process Source: MGI
Keywordsi
Biological process | GPI-anchor biosynthesis |
Enzyme and pathway databases
BRENDAi | 2.4.1.198, 2681 |
PathwayCommonsi | Q3MUY2 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | Q3MUY2 |
UniPathwayi | UPA00196 |
Names & Taxonomyi
Protein namesi | Recommended name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit YCuratedAlternative name(s): Phosphatidylinositol-glycan biosynthesis class Y protein Short name: PIG-Y |
Gene namesi | Name:PIGYImported |
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:28213, PIGY |
MIMi | 610662, gene |
neXtProti | NX_Q3MUY2 |
VEuPathDBi | HostDB:ENSG00000255072 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Multi-pass membrane protein 1 Publication
Endoplasmic reticulum
Plasma Membrane
- plasma membrane Source: MGI
Other locations
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 3 | CytoplasmicSequence analysis | 3 | |
Transmembranei | 4 – 26 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 27 – 44 | LumenalSequence analysisAdd BLAST | 18 | |
Transmembranei | 45 – 65 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 66 – 71 | CytoplasmicSequence analysis | 6 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Hyperphosphatasia with mental retardation syndrome 6 (HPMRS6)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076351 | 46 | L → P in HPMRS6; may diminish protein expression and/or stability; decreases cell surface expression of GPI-anchored proteins, including CD55 and CD59, in skin fibroblasts from affected individual. 1 PublicationCorresponds to variant dbSNP:rs869025322EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 84992 |
MalaCardsi | PIGY |
MIMi | 616809, phenotype |
OpenTargetsi | ENSG00000255072 |
Orphaneti | 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA143485576 |
Miscellaneous databases
Pharosi | Q3MUY2, Tbio |
Genetic variation databases
BioMutai | PIGY |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000246311 | 1 – 71 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit YAdd BLAST | 71 |
Proteomic databases
PaxDbi | Q3MUY2 |
PeptideAtlasi | Q3MUY2 |
PRIDEi | Q3MUY2 |
PTM databases
iPTMneti | Q3MUY2 |
PhosphoSitePlusi | Q3MUY2 |
Expressioni
Gene expression databases
Bgeei | ENSG00000255072, Expressed in female gonad and 67 other tissues |
Organism-specific databases
HPAi | ENSG00000255072, Low tissue specificity |
Interactioni
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).
Interacts directly with PIGA; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815). Does not interact with Ras proteins (PubMed:16162815).
1 PublicationBinary interactionsi
Q3MUY2
With | #Exp. | IntAct |
---|---|---|
ERG28 [Q9UKR5] | 3 | EBI-3920125,EBI-711490 |
PIGA [P37287] | 6 | EBI-3920125,EBI-26643054 |
TMEM72 [A0PK05] | 3 | EBI-3920125,EBI-12878352 |
Protein-protein interaction databases
BioGRIDi | 124417, 5 interactors |
IntActi | Q3MUY2, 4 interactors |
STRINGi | 9606.ENSP00000432688 |
Miscellaneous databases
RNActi | Q3MUY2, protein |
Structurei
Family & Domainsi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502S4A7, Eukaryota |
GeneTreei | ENSGT00610000087446 |
HOGENOMi | CLU_2978556_0_0_1 |
InParanoidi | Q3MUY2 |
OMAi | FFHLWKW |
PhylomeDBi | Q3MUY2 |
Family and domain databases
InterProi | View protein in InterPro IPR029164, PIG-Y IPR033535, PIGY_chordates |
PANTHERi | PTHR39235, PTHR39235, 1 hit |
Pfami | View protein in Pfam PF15159, PIG-Y, 1 hit |
i Sequence
Sequence statusi: Complete.
10 20 30 40 50
MFLSLPTLTV LIPLVSLAGL FYSASVEENF PQGCTSTASL CFYSLLLPIT
60 70
IPVYVFFHLW TWMGIKLFRH N
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_076351 | 46 | L → P in HPMRS6; may diminish protein expression and/or stability; decreases cell surface expression of GPI-anchored proteins, including CD55 and CD59, in skin fibroblasts from affected individual. 1 PublicationCorresponds to variant dbSNP:rs869025322EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB206972 mRNA Translation: BAE44507.1 BC007876 mRNA Translation: AAH07876.2 |
CCDSi | CCDS54778.1 |
RefSeqi | NP_001036081.1, NM_001042616.2 |
Genome annotation databases
Ensembli | ENST00000527353; ENSP00000432688; ENSG00000255072 |
GeneIDi | 84992 |
KEGGi | hsa:84992 |
MANE-Selecti | ENST00000527353.2; ENSP00000432688.1; NM_001042616.3; NP_001036081.1 |
UCSCi | uc062ydg.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB206972 mRNA Translation: BAE44507.1 BC007876 mRNA Translation: AAH07876.2 |
CCDSi | CCDS54778.1 |
RefSeqi | NP_001036081.1, NM_001042616.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124417, 5 interactors |
IntActi | Q3MUY2, 4 interactors |
STRINGi | 9606.ENSP00000432688 |
PTM databases
iPTMneti | Q3MUY2 |
PhosphoSitePlusi | Q3MUY2 |
Genetic variation databases
BioMutai | PIGY |
Proteomic databases
PaxDbi | Q3MUY2 |
PeptideAtlasi | Q3MUY2 |
PRIDEi | Q3MUY2 |
Protocols and materials databases
Antibodypediai | 58497, 78 antibodies from 20 providers |
DNASUi | 84992 |
Genome annotation databases
Ensembli | ENST00000527353; ENSP00000432688; ENSG00000255072 |
GeneIDi | 84992 |
KEGGi | hsa:84992 |
MANE-Selecti | ENST00000527353.2; ENSP00000432688.1; NM_001042616.3; NP_001036081.1 |
UCSCi | uc062ydg.1, human |
Organism-specific databases
CTDi | 84992 |
DisGeNETi | 84992 |
GeneCardsi | PIGY |
HGNCi | HGNC:28213, PIGY |
HPAi | ENSG00000255072, Low tissue specificity |
MalaCardsi | PIGY |
MIMi | 610662, gene 616809, phenotype |
neXtProti | NX_Q3MUY2 |
OpenTargetsi | ENSG00000255072 |
Orphaneti | 247262, Hyperphosphatasia-intellectual disability syndrome |
PharmGKBi | PA143485576 |
VEuPathDBi | HostDB:ENSG00000255072 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502S4A7, Eukaryota |
GeneTreei | ENSGT00610000087446 |
HOGENOMi | CLU_2978556_0_0_1 |
InParanoidi | Q3MUY2 |
OMAi | FFHLWKW |
PhylomeDBi | Q3MUY2 |
Enzyme and pathway databases
UniPathwayi | UPA00196 |
BRENDAi | 2.4.1.198, 2681 |
PathwayCommonsi | Q3MUY2 |
Reactomei | R-HSA-162710, Synthesis of glycosylphosphatidylinositol (GPI) |
SignaLinki | Q3MUY2 |
Miscellaneous databases
BioGRID-ORCSi | 84992, 109 hits in 961 CRISPR screens |
ChiTaRSi | PIGY, human |
GenomeRNAii | 84992 |
Pharosi | Q3MUY2, Tbio |
PROi | PR:Q3MUY2 |
RNActi | Q3MUY2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000255072, Expressed in female gonad and 67 other tissues |
Family and domain databases
InterProi | View protein in InterPro IPR029164, PIG-Y IPR033535, PIGY_chordates |
PANTHERi | PTHR39235, PTHR39235, 1 hit |
Pfami | View protein in Pfam PF15159, PIG-Y, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | PIGY_HUMAN | |
Accessioni | Q3MUY2Primary (citable) accession number: Q3MUY2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 25, 2006 |
Last sequence update: | October 25, 2005 | |
Last modified: | February 23, 2022 | |
This is version 110 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: 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