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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 the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]

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 Glycosylphosphatidylinositol Deficiency. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (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).

Additional gene information for PIGW Gene

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

Genomics for PIGW Gene

GeneHancer (GH) Regulatory Elements for PIGW Gene

Promoters and enhancers for PIGW Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I036532 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -0.3 -300 3.7 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 YBX1 ZNF2 YY1 MYO19 PIGW GC17M036531 GC17M036499
GH17I036102 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE 9.6 -429.0 -428997 6.2 PKNOX1 ATF1 SMAD1 KLF17 BMI1 SCRT2 ZNF143 ATF7 IKZF2 RUNX3 CCL4 CCL3 CCL3L3 CCL5 CCL18 CCL15 PIGW SLFN12L MYO19 GGNBP2
GH17I036496 Enhancer 0.4 ENCODE 12.5 -38.3 -38338 0.8 POLR2A ZBTB48 ZBTB40 PIR53886 PIGW ZNHIT3 GC17M036531 MYO19 GC17M036499
GH17I036065 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 1.8 -468.4 -468387 1.6 ATF7 CCL5 CCL3 CCL4 MYO19 PIGW CCL3L3 CCL18 ENSG00000277089
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGW on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIGW gene promoter:

Genomic Locations for PIGW Gene

Genomic Locations for PIGW Gene
chr17:36,535,002-36,539,368
(GRCh38/hg38)
Size:
4,367 bases
Orientation:
Plus strand
chr17:34,890,847-34,895,159
(GRCh37/hg19)

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 isoforms=111 and isoforms=412
  • Glycosylation at Asn15

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGW gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

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
Coenzyme A Investigational Nutra 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for PIGW Gene

  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGW Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • anus
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with PIGW: view

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 33
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia PIGW 33
  • 87.81 (n)
cow
(Bos Taurus)
Mammalia PIGW 33
  • 85.02 (n)
rat
(Rattus norvegicus)
Mammalia Pigw 33
  • 82.27 (n)
mouse
(Mus musculus)
Mammalia Pigw 33 16
  • 81.64 (n)
chicken
(Gallus gallus)
Aves PIGW 33
  • 58.27 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia pigw 33
  • 57.78 (n)
Str.19470 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9189 33
zebrafish
(Danio rerio)
Actinopterygii pigw 33
  • 52.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18173 33
  • 42.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009280 33
  • 41.81 (n)
worm
(Caenorhabditis elegans)
Secernentea hpo-20 33
  • 45.22 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GWT1 33
  • 47.66 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR094C 33
  • 43.67 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G17910 33
  • 46.04 (n)
rice
(Oryza sativa)
Liliopsida Os03g0378200 33
  • 46.67 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00913 33
  • 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 Variation AA Info Type
rs200024253 pathogenic, Hyperphosphatasia with mental retardation syndrome 5, Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025] 36,537,600(+) A/G coding_sequence_variant, missense_variant
rs367592728 uncertain-significance, Hyperphosphatasia with mental retardation syndrome 5 36,537,984(+) C/T coding_sequence_variant, missense_variant
rs587777733 pathogenic, Hyperphosphatasia with mental retardation syndrome 5, Hyperphosphatasia with mental retardation syndrome 5 (HPMRS5) [MIM:616025] 36,537,312(+) A/C/G coding_sequence_variant, missense_variant
rs147622852 likely-pathogenic, not provided 36,537,747(+) C/T coding_sequence_variant, stop_gained
rs753385776 likely-pathogenic, not provided 36,537,716(+) TGTTTG/TG coding_sequence_variant, frameshift

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)

Additional Variant Information 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: HGMD, 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.

Additional Disease Information for 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 (Molecular biology of the cell 2003) 2 3 4 58
  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 (Journal of medical genetics 2014) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. GWT1 gene is required for inositol acylation of glycosylphosphatidylinositol anchors in yeast. (PMID: 12714589) Umemura M … Jigami Y (The Journal of biological chemistry 2003) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PIGW Gene

Sources for PIGW Gene

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