ENSG00000277161


Homo sapiens

Features
Gene ID: ENSG00000277161
  
Biological name :PIGW
  
Synonyms : phosphatidylinositol glycan anchor biosynthesis class W / PIGW / Q7Z7B1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q12
Gene start: 36535020
Gene end: 36539310
  
Corresponding Affymetrix probe sets: 1558292_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000482202
Ensembl peptide - ENSP00000480021
Ensembl peptide - ENSP00000480475
NCBI entrez gene - 284098     See in Manteia.
OMIM - 610275
RefSeq - XM_011524646
RefSeq - NM_178517
RefSeq - XM_005257238
RefSeq Peptide - NP_001333684
RefSeq Peptide - NP_848612
RefSeq Peptide - NP_001333683
swissprot - Q7Z7B1
swissprot - A0A087WWS9
Ensembl - ENSG00000277161
  
Related genetic diseases (OMIM): 616025 - Glycosylphosphatidylinositol biosynthesis defect 11, 616025
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pigwENSDARG00000079244Danio rerio
 PIGWENSGALG00000023554Gallus gallus
 PigwENSMUSG00000045140Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR009447  GWT1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006505 GPI anchor metabolic process IC
 biological_processGO:0006506 GPI anchor biosynthetic process IEA
 biological_processGO:0016254 preassembly of GPI anchor in ER membrane TAS
 biological_processGO:0072659 protein localization to plasma membrane IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008374 O-acyltransferase activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA


Pathways (from Reactome)
Pathway description
Synthesis of glycosylphosphatidylinositol (GPI)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000431 Broad nasal bridge "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0003155 Elevated alkaline phosphatase "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson]
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 HP:0010804 Tented upper lip vermilion "Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [pmid:19125428]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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