Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51227
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class P
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGP
Synonyms (NCBI Gene) Gene synonyms aliases
DCRC, DCRC-S, DEE55, DSCR5, DSRC, EIEE55, PIG-P
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605938 3046 ENSG00000185808
Protein
UniProt ID 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)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Epileptic Encephalopathy early infantile epileptic encephalopathy with suppression bursts rs778481061, rs768633670 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Developmental And Epileptic Encephalopathy genetic developmental and epileptic encephalopathy N/A N/A GenCC
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome multiple congenital anomalies-hypotonia-seizures syndrome N/A N/A GenCC
Associations from Text Mining Disease 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