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Aliases for PIGW Gene

Aliases for PIGW Gene

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

  • Glycosylphosphatidylinositol (GPI) is a complex glycolipid that anchors many proteins to the cell surface. PIGW acts in the third step of GPI biosynthesis and acylates the inositol ring of phosphatidylinositol (Murakami et al., 2003 [PubMed 14517336]).[supplied by OMIM, Mar 2008]

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 Metabolism and Transport to the Golgi and subsequent modification. 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

Promoters for PIGW Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIGW on UCSC Golden Path with GeneCards custom track

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

Proteomics data for PIGW Gene at MOPED

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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

No data available for Gene Ontology (GO) - Cellular Components for PIGW Gene

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

Selected Interacting proteins: Q7Z7B1-PIGW_HUMAN for PIGW Gene via I2D

Gene Ontology (GO) - Biological Process for PIGW Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0043687 post-translational protein modification TAS --
GO:0044267 cellular protein metabolic process TAS --
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 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:

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, MOPED, and MaxQB for PIGW Gene



SOURCE GeneReport for Unigene cluster for PIGW Gene Hs.378885

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

Protein tissue co-expression partners for PIGW Gene

Primer Products

In Situ Assay 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 35
  • 99.27 (n)
  • 99.01 (a)
cow
(Bos Taurus)
Mammalia PIGW 35
  • 85.02 (n)
  • 77.53 (a)
dog
(Canis familiaris)
Mammalia PIGW 35
  • 87.81 (n)
  • 82.7 (a)
mouse
(Mus musculus)
Mammalia Pigw 16
Pigw 35
  • 81.64 (n)
  • 75.75 (a)
rat
(Rattus norvegicus)
Mammalia Pigw 35
  • 82.27 (n)
  • 76.29 (a)
chicken
(Gallus gallus)
Aves PIGW 35
  • 58.27 (n)
  • 46.98 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9189 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pigw 35
  • 57.78 (n)
  • 45.69 (a)
Str.19470 35
zebrafish
(Danio rerio)
Actinopterygii pigw 35
  • 52.49 (n)
  • 46.42 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009280 35
  • 41.81 (n)
  • 31.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18173 35
  • 42.87 (n)
  • 32.83 (a)
worm
(Caenorhabditis elegans)
Secernentea hpo-20 35
  • 45.22 (n)
  • 34.11 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR094C 35
  • 43.67 (n)
  • 35.82 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GWT1 35
  • 47.66 (n)
  • 37.47 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17910 35
  • 46.04 (n)
  • 33.76 (a)
rice
(Oryza sativa)
Liliopsida Os03g0378200 35
  • 46.67 (n)
  • 38.8 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00913 35
  • 43.04 (n)
  • 36.67 (a)
Species with no ortholog for PIGW:
  • 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
VAR_071933 Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5)
rs200024253 Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) 36,537,600(+) GAGCA(A/G)TGGAT reference, missense
rs35139532 -- 36,537,869(+) ATTTT(C/T)CCCCT reference, synonymous-codon
rs36126803 -- 36,537,724(+) TGGGC(C/G)ATTAG reference, missense
rs61755368 -- 36,537,806(+) GTTCA(C/G/T)TGGAA reference, synonymous-codon, missense

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

Variant ID Type Subtype PubMed ID
nsv428340 CNV Gain 18775914
dgv946e1 CNV Complex 17122850
dgv948e1 CNV Complex 17122850
esv2751645 CNV Gain 17911159
nsv526727 CNV Gain 19592680
nsv471697 CNV Gain 15918152
essv6619 CNV CNV 17122850
nsv469853 CNV Complex 16826518
nsv457734 CNV Gain 19166990
nsv516100 CNV Gain+Loss 19592680
nsv469760 CNV Loss 16826518
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

HapMap Linkage Disequilibrium report
PIGW
Human Gene Mutation Database (HGMD)
PIGW

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

Disorders for PIGW Gene

MalaCards: The human disease database

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

- 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 67
  2. GWT1 gene is required for inositol acylation of glycosylphosphatidylinositol anchors in yeast. (PMID: 12714589) Umemura M. … Jigami Y. (J. Biol. Chem. 2003) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for PIGW Gene

Sources for PIGW Gene

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