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Protein

Phosphatidylinositol-glycan biosynthesis class W protein

Gene

PIGW

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Biological processi

  • GPI anchor metabolic process Source: UniProtKB
  • preassembly of GPI anchor in ER membrane Source: Reactome
  • protein localization to plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Biological processi

GPI-anchor biosynthesis

Enzyme and pathway databases

BioCyciZFISH:G66-32357-MONOMER.
ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).
UniPathwayiUPA00196.

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

HGNCiHGNC:23213. PIGW.

Subcellular locationi

  • Endoplasmic reticulum membrane By similarity; Multi-pass membrane protein By similarity

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

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5)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 HPMRS5; compound heterozygote with V-167; reduced protein abundance; decreased function in GPI-anchored protein transport. 1 PublicationCorresponds to variant rs587777733dbSNPEnsembl.1
Natural variantiVAR_071934167M → V in HPMRS5; compound heterozygote with P-71; no effect on protein abundance; loss of function in GPI-anchored protein transport. 1 PublicationCorresponds to variant rs200024253dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi284098.
MalaCardsiPIGW.
MIMi616025. phenotype.
OpenTargetsiENSG00000275600.
ENSG00000277161.
Orphaneti247262. 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...)Sequence analysis1
Modified residuei416PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ7Z7B1.
PaxDbiQ7Z7B1.
PeptideAtlasiQ7Z7B1.
PRIDEiQ7Z7B1.

PTM databases

iPTMnetiQ7Z7B1.
PhosphoSitePlusiQ7Z7B1.

Expressioni

Gene expression databases

BgeeiENSG00000184886.
CleanExiHS_PIGW.
ExpressionAtlasiQ7Z7B1. baseline and differential.
GenevisibleiQ7Z7B1. HS.

Organism-specific databases

HPAiHPA023499.

Interactioni

Protein-protein interaction databases

BioGridi129756. 8 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.
OMAiTHWNFFF.
OrthoDBiEOG091G07LB.
PhylomeDBiQ7Z7B1.

Family and domain databases

InterProiIPR009447. GWT1.
[Graphical view]
PANTHERiPTHR20661. PTHR20661. 1 hit.
PfamiPF06423. GWT1. 1 hit.
[Graphical view]
PIRSFiPIRSF017321. GWT1. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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 HPMRS5; compound heterozygote with V-167; reduced protein abundance; decreased function in GPI-anchored protein transport. 1 PublicationCorresponds to variant rs587777733dbSNPEnsembl.1
Natural variantiVAR_071934167M → V in HPMRS5; compound heterozygote with P-71; no effect on protein abundance; loss of function in GPI-anchored protein transport. 1 PublicationCorresponds to variant rs200024253dbSNPEnsembl.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_848612.2. NM_178517.3.
XP_005257295.1. XM_005257238.2.
XP_011522948.1. XM_011524646.2.
UniGeneiHs.378885.

Genome annotation databases

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

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_848612.2. NM_178517.3.
XP_005257295.1. XM_005257238.2.
XP_011522948.1. XM_011524646.2.
UniGeneiHs.378885.

3D structure databases

ProteinModelPortaliQ7Z7B1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129756. 8 interactors.
STRINGi9606.ENSP00000332313.

PTM databases

iPTMnetiQ7Z7B1.
PhosphoSitePlusiQ7Z7B1.

Polymorphism and mutation databases

BioMutaiPIGW.
DMDMi74713752.

Proteomic databases

MaxQBiQ7Z7B1.
PaxDbiQ7Z7B1.
PeptideAtlasiQ7Z7B1.
PRIDEiQ7Z7B1.

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.
GeneCardsiPIGW.
H-InvDBHIX0019575.
HGNCiHGNC:23213. PIGW.
HPAiHPA023499.
MalaCardsiPIGW.
MIMi610275. gene.
616025. phenotype.
neXtProtiNX_Q7Z7B1.
OpenTargetsiENSG00000275600.
ENSG00000277161.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA134894412.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0411. Eukaryota.
COG5062. LUCA.
GeneTreeiENSGT00390000013520.
HOGENOMiHOG000204712.
HOVERGENiHBG079452.
InParanoidiQ7Z7B1.
KOiK05283.
OMAiTHWNFFF.
OrthoDBiEOG091G07LB.
PhylomeDBiQ7Z7B1.

Enzyme and pathway databases

UniPathwayiUPA00196.
BioCyciZFISH:G66-32357-MONOMER.
ReactomeiR-HSA-162710. Synthesis of glycosylphosphatidylinositol (GPI).

Miscellaneous databases

ChiTaRSiPIGW. human.
GenomeRNAii284098.
PROiQ7Z7B1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184886.
CleanExiHS_PIGW.
ExpressionAtlasiQ7Z7B1. baseline and differential.
GenevisibleiQ7Z7B1. HS.

Family and domain databases

InterProiIPR009447. GWT1.
[Graphical view]
PANTHERiPTHR20661. PTHR20661. 1 hit.
PfamiPF06423. GWT1. 1 hit.
[Graphical view]
PIRSFiPIRSF017321. GWT1. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiPIGW_HUMAN
AccessioniPrimary (citable) accession number: Q7Z7B1
Secondary accession number(s): Q8N9G3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: October 1, 2003
Last modified: November 2, 2016
This is version 98 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.