Gene Gene information from NCBI Gene database.
Entrez ID 51227
Gene name Phosphatidylinositol glycan anchor biosynthesis class P
Gene symbol PIGP
Synonyms (NCBI Gene)
DCRCDCRC-SDEE55DSCR5DSRCEIEE55PIG-P
Chromosome 21
Chromosome location 21q22.13
Summary This gene encodes an enzyme involved in the first step of glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells that serves to anchor proteins to the cell surface. The encoded protein is a compone
miRNA miRNA information provided by mirtarbase database.
199
miRTarBase ID miRNA Experiments Reference
MIRT051515 hsa-let-7e-5p CLASH 23622248
MIRT044441 hsa-miR-320a CLASH 23622248
MIRT693376 hsa-miR-890 HITS-CLIP 23313552
MIRT693375 hsa-miR-103b HITS-CLIP 23313552
MIRT693374 hsa-miR-214-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA 10944123, 16162815
GO:0000506 Component Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI 16162815
GO:0005515 Function Protein binding IPI 10944123, 16162815, 32296183, 32814053, 33961781
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 16162815
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605938 3046 ENSG00000185808
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P57054
Protein name Phosphatidylinositol N-acetylglucosaminyltransferase subunit P (Down syndrome critical region protein 5) (Down syndrome critical region protein C) (Phosphatidylinositol-glycan biosynthesis class P protein) (PIG-P)
Protein function Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynth
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08510 PIG-P 35 148 PIG-P Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 158
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.
21
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Developmental and epileptic encephalopathy Likely pathogenic; Pathogenic rs778481061, rs768633670 RCV000449561
RCV000449500
Developmental and epileptic encephalopathy, 55 Likely pathogenic; Pathogenic rs778481061, rs768633670 RCV000496365
RCV000496825
PIGP-related disorder Likely pathogenic; Pathogenic rs768633670 RCV004758690
See cases Likely pathogenic; Pathogenic rs768633670 RCV002252129
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 31139695
Down Syndrome Associate 34127780
Down Syndrome Critical Region Associate 10907851
Epileptic Encephalopathy Early Infantile 3 Associate 31139695
Seizures Associate 31139695