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Aliases for PIGW Gene

Aliases for PIGW Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class W 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class W Protein 3
  • Phosphatidylinositol Glycan, Class W 2
  • EC 2.3.-.- 4
  • HPMRS5 3
  • PIG-W 4
  • Gwt1 3

External Ids for PIGW Gene

Previous GeneCards Identifiers for PIGW Gene

  • GC00U912969
  • GC17P035086
  • GC17P031965
  • GC17P034890
  • GC17P030828

Summaries for PIGW Gene

Entrez Gene Summary for PIGW Gene

  • The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of West syndrome and hyperphosphatasia with mental retardation syndrome. [provided by RefSeq, Oct 2016]

GeneCards Summary for PIGW Gene

PIGW (Phosphatidylinositol Glycan Anchor Biosynthesis Class W) is a Protein Coding gene. Diseases associated with PIGW include Hyperphosphatasia With Mental Retardation Syndrome 5 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. GO annotations related to this gene include transferase activity, transferring acyl groups.

UniProtKB/Swiss-Prot for PIGW Gene

  • 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).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGW Gene

Genomics for PIGW Gene

Regulatory Elements for PIGW Gene

Enhancers for PIGW Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F036496 0.4 ENCODE 12.5 -38.3 -38338 0.8 CTCF USF1 L3MBTL2 BHLHE40 USF2 ELF1 REST ZBTB40 GABPA MITF PIGW PIR53886 GC17M036531
GH17F036102 1.3 FANTOM5 Ensembl ENCODE 9.6 -429.4 -429360 6.9 PKNOX1 ATF1 KLF17 BMI1 SCRT2 CREM EGR2 CEBPB TBX21 ZNF518A CCL4 CCL3 CCL3L3 CCL5 CCL18 CCL15 ENSG00000270871 PIGW SLFN12L MYO19
GH17F036065 1 FANTOM5 ENCODE 1.8 -468.4 -468388 1.6 MTA2 SCRT2 TBX21 CCL5 CCL3 CCL4 MYO19 PIGW CCL3L3 CCL18 ENSG00000277089
GH17F036532 0.2 ENCODE 0.8 -0.3 -301 3.7 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2 MYO19 ENSG00000276508 ENSG00000270829 ENSG00000270871 ENSG00000274756 ENSG00000275839 GC17M036531 PIGW
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PIGW on UCSC Golden Path with GeneCards custom track

Promoters for PIGW Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001345017 298 2601 PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A YBX1 FEZF1 DMAP1 ZNF2

Genomic Location for PIGW Gene

Chromosome:
17
Start:
36,535,002 bp from pter
End:
36,539,368 bp from pter
Size:
4,367 bases
Orientation:
Plus strand

Genomic View for PIGW Gene

Genes around PIGW on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGW Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGW Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGW Gene

Proteins for PIGW Gene

  • Protein details for PIGW Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z7B1-PIGW_HUMAN
    Recommended name:
    Phosphatidylinositol-glycan biosynthesis class W protein
    Protein Accession:
    Q7Z7B1
    Secondary Accessions:
    • Q8N9G3

    Protein attributes for PIGW Gene

    Size:
    504 amino acids
    Molecular mass:
    56882 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGW Gene

Post-translational modifications for PIGW Gene

  • Ubiquitination at Lys 111 and Lys 412
  • Glycosylation at Asn 15
  • Modification sites at PhosphoSitePlus

Other Protein References for PIGW Gene

No data available for DME Specific Peptides for PIGW Gene

Domains & Families for PIGW Gene

Gene Families for PIGW Gene

Protein Domains for PIGW Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGW Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z7B1

UniProtKB/Swiss-Prot:

PIGW_HUMAN :
  • Belongs to the PIGW family.
Family:
  • Belongs to the PIGW family.
genes like me logo Genes that share domains with PIGW: view

Function for PIGW Gene

Molecular function for PIGW Gene

UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for PIGW Gene

Gene Ontology (GO) - Molecular Function for PIGW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008374 O-acyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with PIGW: view
genes like me logo Genes that share phenotypes with PIGW: view

Human Phenotype Ontology for PIGW Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGW

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PIGW Gene

Localization for PIGW Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGW Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGW Gene COMPARTMENTS Subcellular localization image for PIGW gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PIGW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGW: view

Pathways & Interactions for PIGW Gene

genes like me logo Genes that share pathways with PIGW: view

UniProtKB/Swiss-Prot Q7Z7B1-PIGW_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Interacting Proteins for PIGW Gene

Gene Ontology (GO) - Biological Process for PIGW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006505 GPI anchor metabolic process IC 24367057
GO:0006506 GPI anchor biosynthetic process IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0072659 protein localization to plasma membrane IMP 24367057
genes like me logo Genes that share ontologies with PIGW: view

No data available for SIGNOR curated interactions for PIGW Gene

Drugs & Compounds for PIGW Gene

(4) Drugs for PIGW Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0
Coenzyme A Nutra 0

(842) Additional Compounds for PIGW Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGW: view

Transcripts for PIGW Gene

Unigene Clusters for PIGW Gene

Phosphatidylinositol glycan anchor biosynthesis, class W:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIGW Gene

No ASD Table

Relevant External Links for PIGW Gene

GeneLoc Exon Structure for
PIGW
ECgene alternative splicing isoforms for
PIGW

Expression for PIGW Gene

mRNA expression in normal human tissues for PIGW Gene

Protein differential expression in normal tissues from HIPED for PIGW Gene

This gene is overexpressed in Nasal epithelium (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIGW Gene



Protein tissue co-expression partners for PIGW Gene

NURSA nuclear receptor signaling pathways regulating expression of PIGW Gene:

PIGW

SOURCE GeneReport for Unigene cluster for PIGW Gene:

Hs.378885
genes like me logo Genes that share expression patterns with PIGW: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGW Gene

Orthologs for PIGW Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGW Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGW 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia PIGW 34
  • 87.81 (n)
cow
(Bos Taurus)
Mammalia PIGW 34
  • 85.02 (n)
rat
(Rattus norvegicus)
Mammalia Pigw 34
  • 82.27 (n)
mouse
(Mus musculus)
Mammalia Pigw 34 16
  • 81.64 (n)
chicken
(Gallus gallus)
Aves PIGW 34
  • 58.27 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pigw 34
  • 57.78 (n)
Str.19470 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9189 34
zebrafish
(Danio rerio)
Actinopterygii pigw 34
  • 52.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18173 34
  • 42.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009280 34
  • 41.81 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-20 34
  • 45.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GWT1 34
  • 47.66 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR094C 34
  • 43.67 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17910 34
  • 46.04 (n)
rice
(Oryza sativa)
Liliopsida Os03g0378200 34
  • 46.67 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00913 34
  • 43.04 (n)
Species where no ortholog for PIGW was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGW Gene

ENSEMBL:
Gene Tree for PIGW (if available)
TreeFam:
Gene Tree for PIGW (if available)

Paralogs for PIGW Gene

No data available for Paralogs for PIGW Gene

Variants for PIGW Gene

Sequence variations from dbSNP and Humsavar for PIGW Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs200024253 Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025], Pathogenic 36,537,600(+) GAGCA(A/G)TGGAT reference, missense
rs587777733 Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025], Pathogenic 36,537,312(+) TAGCC(A/C)CTTTG upstream-variant-2KB, reference, missense
rs10715370 -- 36,536,543(+) TTTTT(-/T)GAGAT intron-variant, upstream-variant-2KB
rs111292007 -- 36,533,123(+) TGTGA(C/T)CCTGG intron-variant, upstream-variant-2KB
rs111496412 -- 36,539,448(+) TTATA(C/T)ACTAT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PIGW Gene

Variant ID Type Subtype PubMed ID
dgv3155n100 CNV gain 25217958
esv2763162 CNV gain 21179565
esv3640471 CNV gain 21293372
esv3640472 CNV gain 21293372
esv3640473 CNV gain 21293372
nsv457734 CNV gain 19166990
nsv469760 CNV loss 16826518
nsv469853 CNV gain+loss 16826518
nsv471697 CNV gain 15918152
nsv516100 CNV gain+loss 19592680
nsv574909 CNV gain 21841781
nsv833428 CNV loss 17160897

Variation tolerance for PIGW Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 63.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGW Gene

Human Gene Mutation Database (HGMD)
PIGW
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGW

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGW Gene

Disorders for PIGW Gene

MalaCards: The human disease database

(10) MalaCards diseases for PIGW Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hyperphosphatasia with mental retardation syndrome 5
  • hpmrs5
hyperphosphatasia-intellectual disability syndrome
  • mabry syndrome
hyperphosphatasia with mental retardation syndrome
glycosylphosphatidylinositol deficiency
  • hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
iridogoniodysgenesis, type 2
  • iridogoniodysgenesis syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PIGW in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGW_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025]: An autosomal recessive neurologic disorder characterized by developmental delay, mental retardation, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. {ECO:0000269 PubMed:24367057}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGW

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGW
genes like me logo Genes that share disorders with PIGW: view

No data available for Genatlas for PIGW Gene

Publications for PIGW Gene

  1. PIG-W is critical for inositol acylation but not for flipping of glycosylphosphatidylinositol-anchor. (PMID: 14517336) Murakami Y. … Kinoshita T. (Mol. Biol. Cell 2003) 2 3 4 64
  2. Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. (PMID: 24367057) Chiyonobu T. … Murakami Y. (J. Med. Genet. 2013) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. GWT1 gene is required for inositol acylation of glycosylphosphatidylinositol anchors in yeast. (PMID: 12714589) Umemura M. … Jigami Y. (J. Biol. Chem. 2003) 2 3 64
  5. A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia. (PMID: 27626616) Hogrebe M. … Marquardt T. (Am. J. Med. Genet. A 2016) 3 64

Products for PIGW Gene

Sources for PIGW Gene

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