ENSG00000100564


Homo sapiens

Features
Gene ID: ENSG00000100564
  
Biological name :PIGH
  
Synonyms : phosphatidylinositol glycan anchor biosynthesis class H / PIGH / Q14442
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q24.1
Gene start: 67581955
Gene end: 67600287
  
Corresponding Affymetrix probe sets: 209625_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453759
Ensembl peptide - ENSP00000453733
Ensembl peptide - ENSP00000454061
Ensembl peptide - ENSP00000216452
Ensembl peptide - ENSP00000452816
Ensembl peptide - ENSP00000452924
Ensembl peptide - ENSP00000452974
Ensembl peptide - ENSP00000452996
Ensembl peptide - ENSP00000453158
Ensembl peptide - ENSP00000453394
NCBI entrez gene - 5283     See in Manteia.
OMIM - 600154
RefSeq - XM_017021372
RefSeq - NM_004569
RefSeq - XM_011536838
RefSeq - XM_017021371
RefSeq Peptide - NP_004560
swissprot - H0YMT4
swissprot - H0YMV4
swissprot - H0YNL7
swissprot - B4DEE2
swissprot - Q14442
swissprot - H0YKI1
swissprot - H0YKZ3
swissprot - H0YLY9
swissprot - H0YLD0
Ensembl - ENSG00000100564
  
Related genetic diseases (OMIM): 618010 - Glycosylphosphatidylinositol biosynthesis defect 17, 618010
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
 pighENSDARG00000038348Danio rerio
 PIGHENSGALG00000009510Gallus gallus
 PighENSMUSG00000021120Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR019328  GPI-GlcNAc transferase complex, PIG-H component, conserved domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006464 cellular protein modification process TAS
 biological_processGO:0006506 GPI anchor biosynthetic process TAS
 biological_processGO:0016254 preassembly of GPI anchor in ER membrane TAS
 cellular_componentGO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0003824 catalytic activity TAS
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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