Gene Gene information from NCBI Gene database.
Entrez ID 284098
Gene name Phosphatidylinositol glycan anchor biosynthesis class W
Gene symbol PIGW
Synonyms (NCBI Gene)
Gwt1HPMRS5
Chromosome 17
Chromosome location 17q12
Summary 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 c
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs147622852 C>T Likely-pathogenic Stop gained, coding sequence variant
rs200024253 A>G Pathogenic Missense variant, coding sequence variant
rs753385776 TTTG>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1256773607 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
221
miRTarBase ID miRNA Experiments Reference
MIRT547112 hsa-miR-200a-3p PAR-CLIP 21572407
MIRT547111 hsa-miR-141-3p PAR-CLIP 21572407
MIRT286845 hsa-miR-374b-5p PAR-CLIP 21572407
MIRT286843 hsa-miR-374a-5p PAR-CLIP 21572407
MIRT286847 hsa-miR-5583-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane ISS
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006505 Process GPI anchor metabolic process IC 24367057
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610275 23213 ENSG00000277161
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z7B1
Protein name Glucosaminyl-phosphatidylinositol-acyltransferase PIGW (GlcN-PI-acyltransferase) (EC 2.3.-.-) (Phosphatidylinositol-glycan biosynthesis class W protein) (PIG-W)
Protein function Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of glucosaminyl phosphatidylinositol (GlcN-PI) to generate glucosaminyl acyl phosphatidylinositol (GlcN-(acyl)PI) and participates in the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06423 GWT1 301 463 GWT1 Family
Sequence
MSEKQMKEAFVSNLNGTTVLEITQGLCFPAFCILCRGFLIIFSQYLCSFSPTWKTRFLTD
FVVLIVPMVATLTIWASFILLELLGVIIFGAGLLYQIYRRRTCYARLPFLKILEKFLNIS
LESEYNPAISCFRVITSAFTAIAILAVDFPLFPRRFAKTELYGTGAMDFGVGGFVFGSAM
VCLEVRRRKYMEGSKLHYFTNSLYSVWPLVFLGIGRLAIIKSIGYQEHLTEYGVHWNFFF
TIIVVKLITPLLLIIFPLNKSWIIALGITVLYQLALDFTSLKRLILYGTDGSGTRVGLLN
ANREGIISTLGYVAIHMAGVQTGLYMHKNRSHIKDLIKVACFLLLAAISLFISLYVVQVN
VEAVSRRMANLAFCIWIVASSLILLSSLLLGDIILSFAKFLIKGALVPCSWKLIQSPVTN
KKHSESLVPEAERMEPSLCLITALNRKQLIFFLLSNITTGLIN
LMVDTLHSSTLWALFVV
NLYMFSNCLIVYVLYLQDKTVQFW
Sequence length 504
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
273
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperphosphatasia with intellectual disability syndrome 5 Likely pathogenic; Pathogenic rs2074173475, rs587777733, rs2510226231, rs1170311490, rs2510225840, rs1256773607 RCV001333101
RCV000144174
RCV002282715
RCV002282716
RCV002282717
RCV000585892
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal skeletal morphology Conflicting classifications of pathogenicity rs753385776 RCV001270043
Cleft palate Conflicting classifications of pathogenicity rs753385776 RCV001270043
Gastric cancer Benign rs117789606 RCV005913334
Global developmental delay Conflicting classifications of pathogenicity rs753385776 RCV001270043
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Multiple Associate 30813920
Carcinoma Squamous Cell Associate 36938730
Cognition Disorders Associate 30813920
Epilepsy Associate 30813920
Frontotemporal Dementia Associate 37979250
Hyperostosis corticalis deformans juvenilis Associate 30813920
Hyperphosphatasia with Mental Retardation Associate 30813920
Intellectual Disability Associate 30813920
Pneumonia Associate 30813920
Seizures Associate 30813920