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Protein

Phosphatidylinositol-glycan biosynthesis class W protein

Gene

PIGW

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

Functioni

Required for the transport of GPI-anchored proteins to the plasma membrane (PubMed:24367057). Probable acetyltransferase, which acetylates the inositol ring of phosphatidylinositol during biosynthesis of GPI-anchor. Acetylation during GPI-anchor biosynthesis is not essential for the subsequent mannosylation and is usually removed soon after the attachment of GPIs to proteins (By similarity).By similarity1 Publication

Pathwayi: glycosylphosphatidylinositol-anchor biosynthesis

This protein is involved in the pathway glycosylphosphatidylinositol-anchor biosynthesis, which is part of Glycolipid biosynthesis.By similarity
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

  • glucosaminyl-phosphotidylinositol O-acyltransferase activity Source: GO_Central
  • O-acyltransferase activity Source: Reactome

GO - Biological processi

  • GPI anchor biosynthetic process Source: GO_Central
  • GPI anchor metabolic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome
  • protein localization to plasma membrane Source: UniProtKB

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processGPI-anchor biosynthesis

Enzyme and pathway databases

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)
UniPathwayi
UPA00196

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol-glycan biosynthesis class W proteinCurated (EC:2.3.-.-By similarity)
Short name:
PIG-W1 Publication
Gene namesi
Name:PIGWImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000277161.1
HGNCiHGNC:23213 PIGW
MIMi610275 gene
neXtProtiNX_Q7Z7B1

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
Topological domaini1 – 21LumenalSequence analysisAdd BLAST21
Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Transmembranei74 – 94HelicalSequence analysisAdd BLAST21
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21
Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
Transmembranei203 – 223HelicalSequence analysisAdd BLAST21
Transmembranei238 – 258HelicalSequence analysisAdd BLAST21
Transmembranei261 – 281HelicalSequence analysisAdd BLAST21
Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
Transmembranei339 – 359HelicalSequence analysisAdd BLAST21
Transmembranei371 – 391HelicalSequence analysisAdd BLAST21
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Transmembranei474 – 494HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Glycosylphosphatidylinositol biosynthesis defect 11 (GPIBD11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase.
See also OMIM:616025
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07193371T → P in GPIBD11; compound heterozygote with V-167; reduced protein abundance; decreased function in GPI-anchored protein transport. 1 PublicationCorresponds to variant dbSNP:rs587777733EnsemblClinVar.1
Natural variantiVAR_071934167M → V in GPIBD11; compound heterozygote with P-71; no effect on protein abundance; loss of function in GPI-anchored protein transport. 1 PublicationCorresponds to variant dbSNP:rs200024253EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi284098
MalaCardsiPIGW
MIMi616025 phenotype
OpenTargetsiENSG00000277161
Orphaneti83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA134894412

Polymorphism and mutation databases

BioMutaiPIGW
DMDMi74713752

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002462821 – 504Phosphatidylinositol-glycan biosynthesis class W proteinAdd BLAST504

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi15N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei416PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ7Z7B1
PaxDbiQ7Z7B1
PeptideAtlasiQ7Z7B1
PRIDEiQ7Z7B1
ProteomicsDBi69510

PTM databases

iPTMnetiQ7Z7B1
PhosphoSitePlusiQ7Z7B1

Expressioni

Gene expression databases

BgeeiENSG00000277161 Expressed in 166 organ(s), highest expression level in liver
CleanExiHS_PIGW
ExpressionAtlasiQ7Z7B1 baseline and differential
GenevisibleiQ7Z7B1 HS

Organism-specific databases

HPAiHPA023499

Interactioni

Protein-protein interaction databases

BioGridi129756, 9 interactors
STRINGi9606.ENSP00000332313

Structurei

3D structure databases

ProteinModelPortaliQ7Z7B1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PIGW family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0411 Eukaryota
COG5062 LUCA
GeneTreeiENSGT00390000013520
HOGENOMiHOG000204712
HOVERGENiHBG079452
InParanoidiQ7Z7B1
KOiK05283
OMAiVPCSWKL
OrthoDBiEOG091G07LB
PhylomeDBiQ7Z7B1

Family and domain databases

InterProiView protein in InterPro
IPR009447 PIGW/GWT1
PANTHERiPTHR20661 PTHR20661, 1 hit
PfamiView protein in Pfam
PF06423 GWT1, 1 hit
PIRSFiPIRSF017321 GWT1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q7Z7B1-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSEKQMKEAF VSNLNGTTVL EITQGLCFPA FCILCRGFLI IFSQYLCSFS
60 70 80 90 100
PTWKTRFLTD FVVLIVPMVA TLTIWASFIL LELLGVIIFG AGLLYQIYRR
110 120 130 140 150
RTCYARLPFL KILEKFLNIS LESEYNPAIS CFRVITSAFT AIAILAVDFP
160 170 180 190 200
LFPRRFAKTE LYGTGAMDFG VGGFVFGSAM VCLEVRRRKY MEGSKLHYFT
210 220 230 240 250
NSLYSVWPLV FLGIGRLAII KSIGYQEHLT EYGVHWNFFF TIIVVKLITP
260 270 280 290 300
LLLIIFPLNK SWIIALGITV LYQLALDFTS LKRLILYGTD GSGTRVGLLN
310 320 330 340 350
ANREGIISTL GYVAIHMAGV QTGLYMHKNR SHIKDLIKVA CFLLLAAISL
360 370 380 390 400
FISLYVVQVN VEAVSRRMAN LAFCIWIVAS SLILLSSLLL GDIILSFAKF
410 420 430 440 450
LIKGALVPCS WKLIQSPVTN KKHSESLVPE AERMEPSLCL ITALNRKQLI
460 470 480 490 500
FFLLSNITTG LINLMVDTLH SSTLWALFVV NLYMFSNCLI VYVLYLQDKT

VQFW
Length:504
Mass (Da):56,882
Last modified:October 1, 2003 - v1
Checksum:i6CACD6EFD154DDE2
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WWS9A0A087WWS9_HUMAN
Phosphatidylinositol-glycan biosynt...
PIGW
277Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti126N → D in BAC04413 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07193371T → P in GPIBD11; compound heterozygote with V-167; reduced protein abundance; decreased function in GPI-anchored protein transport. 1 PublicationCorresponds to variant dbSNP:rs587777733EnsemblClinVar.1
Natural variantiVAR_071934167M → V in GPIBD11; compound heterozygote with P-71; no effect on protein abundance; loss of function in GPI-anchored protein transport. 1 PublicationCorresponds to variant dbSNP:rs200024253EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB097818 mRNA Translation: BAC77021.1
AK094752 mRNA Translation: BAC04413.1
CCDSiCCDS11313.1
RefSeqiNP_001333683.1, NM_001346754.1
NP_001333684.1, NM_001346755.1
NP_848612.2, NM_178517.4
UniGeneiHs.378885

Genome annotation databases

EnsembliENST00000614443; ENSP00000482202; ENSG00000277161
ENST00000616581; ENSP00000481144; ENSG00000275600
ENST00000620233; ENSP00000480021; ENSG00000277161
ENST00000631508; ENSP00000488033; ENSG00000275600
GeneIDi284098
KEGGihsa:284098
UCSCiuc002hmz.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB097818 mRNA Translation: BAC77021.1
AK094752 mRNA Translation: BAC04413.1
CCDSiCCDS11313.1
RefSeqiNP_001333683.1, NM_001346754.1
NP_001333684.1, NM_001346755.1
NP_848612.2, NM_178517.4
UniGeneiHs.378885

3D structure databases

ProteinModelPortaliQ7Z7B1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129756, 9 interactors
STRINGi9606.ENSP00000332313

PTM databases

iPTMnetiQ7Z7B1
PhosphoSitePlusiQ7Z7B1

Polymorphism and mutation databases

BioMutaiPIGW
DMDMi74713752

Proteomic databases

MaxQBiQ7Z7B1
PaxDbiQ7Z7B1
PeptideAtlasiQ7Z7B1
PRIDEiQ7Z7B1
ProteomicsDBi69510

Protocols and materials databases

DNASUi284098
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000614443; ENSP00000482202; ENSG00000277161
ENST00000616581; ENSP00000481144; ENSG00000275600
ENST00000620233; ENSP00000480021; ENSG00000277161
ENST00000631508; ENSP00000488033; ENSG00000275600
GeneIDi284098
KEGGihsa:284098
UCSCiuc002hmz.2 human

Organism-specific databases

CTDi284098
DisGeNETi284098
EuPathDBiHostDB:ENSG00000277161.1
GeneCardsiPIGW
H-InvDBiHIX0019575
HGNCiHGNC:23213 PIGW
HPAiHPA023499
MalaCardsiPIGW
MIMi610275 gene
616025 phenotype
neXtProtiNX_Q7Z7B1
OpenTargetsiENSG00000277161
Orphaneti83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
247262 Hyperphosphatasia-intellectual disability syndrome
PharmGKBiPA134894412
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0411 Eukaryota
COG5062 LUCA
GeneTreeiENSGT00390000013520
HOGENOMiHOG000204712
HOVERGENiHBG079452
InParanoidiQ7Z7B1
KOiK05283
OMAiVPCSWKL
OrthoDBiEOG091G07LB
PhylomeDBiQ7Z7B1

Enzyme and pathway databases

UniPathwayi
UPA00196

ReactomeiR-HSA-162710 Synthesis of glycosylphosphatidylinositol (GPI)

Miscellaneous databases

ChiTaRSiPIGW human
GenomeRNAii284098
PROiPR:Q7Z7B1
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000277161 Expressed in 166 organ(s), highest expression level in liver
CleanExiHS_PIGW
ExpressionAtlasiQ7Z7B1 baseline and differential
GenevisibleiQ7Z7B1 HS

Family and domain databases

InterProiView protein in InterPro
IPR009447 PIGW/GWT1
PANTHERiPTHR20661 PTHR20661, 1 hit
PfamiView protein in Pfam
PF06423 GWT1, 1 hit
PIRSFiPIRSF017321 GWT1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPIGW_HUMAN
AccessioniPrimary (citable) accession number: Q7Z7B1
Secondary accession number(s): Q8N9G3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2003
Last modified: November 7, 2018
This is version 109 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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