2. Gene
  3. PIGP - phosphatidylinositol glycan anchor biosynthesis class P Gene

PIGP - phosphatidylinositol glycan anchor biosynthesis class P Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as DCRC; DSRC; DEE55; DSCR5; PIG-P; DCRC-S; EIEE55

Gene ID: 51227 | Gene type: protein coding

About PIGP

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:37,065,364-37,073,071 (from NCBI)

This gene has 8 transcripts (splice variants), 222 orthologues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 11.1), adrenal (RPKM 10.6) and 25 other tissues.

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 component of the GPI-N-acetylglucosaminyltransferase complex that catalyzes the transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). This gene is located in the Down Syndrome critical region on chromosome 21 and is a candidate for the pathogenesis of Down syndrome. This gene has multiple pseudogenes and is a member of the phosphatidylinositol glycan anchor biosynthesis gene family. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]

PIGP Products(4)

mRNA Protein Name
NM_001320480.2 NP_001307409.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2
NM_016430.4 NP_057514.2 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 3
NM_153681.2 NP_710148.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 1
NM_153682.3 NP_710149.1 phosphatidylinositol N-acetylglucosaminyltransferase subunit P isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to phosphatidylinositol N-acetylglucosaminyltransferase activity IDA
IDA: Inferred from direct assay
10944123 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10944123 GOA
Biological Process GO Annotation Evidence Reference Source
involved in GPI anchor biosynthetic process IDA
IDA: Inferred from direct assay
16162815 GOA
involved in GPI anchor biosynthetic process IMP
IMP: Inferred from mutant phenotype
28334793 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
16162815 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA
IDA: Inferred from direct assay
10944123 GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IPI
IPI: Inferred from physical interaction
16162815 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PIGP Protein Structure

PIG-P

PIG-P: PIG-P (34 - 148)

  • 0
  • 100
  • 158 a.a.
Protein Preferred Names Protein Names

phosphatidylinositol N-acetylglucosaminyltransferase subunit P

Down syndrome critical region gene 5

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 55

DEE55

Glycosylphosphatidylinositol Biosynthesis Defect 14

Gpibd14

Epileptic Encephalopathy, Early Infantile, 55

Eiee55

Developmental And Epileptic Encephalopathy, 55

Early Infantile Epileptic Encephalopathy 55

Encephalopathy, Epileptic, Early Infantile, Type 55
Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile
Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21
Anterior Segment Dysgenesis 4

Iridogoniodysgenesis Syndrome

Iridogoniodysgenesis, Type 2

Irid2

Iridogoniodysgenesis Type 2

ASGD4

Igds

Iris Hypoplasia With Early-Onset Glaucoma, Autosomal Dominant

Ihga

Irid 1

Irid 2

Iridogoniodysgenesis Type 1

Igds2

Iridogoniodysgenesis Syndrome 2

Iridogoniodysgenesis, Type 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4

MCAHS4

Glycosylphosphatidylinositol Biosynthesis Defect 19

Gpibd19

Developmental And Epileptic Encephalopathy 77

Epileptic Encephalopathy, Early Infantile, 77

Dee77

Eiee77

Developmental And Epileptic Encephalopathy, 77

Early Infantile Epileptic Encephalopathy 77

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-4
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome

Chime Syndrome

Zunich Neuroectodermal Syndrome

Zunich-Kaye Syndrome

CHIME

Glycosylphosphatidylinositol Biosynthesis Defect 5

Gpibd5

Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome

Congenital Disorder Of Glycosylation Due To Pigl Deficiency

Neuroectodermal Dysplasia, Chime Type

Neuroectodermal Syndrome, Zunich Type

Pigl-Cdg

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability And Ear Anomalies Syndrome

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, And Ear Anomalies Syndrome
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability

Congenital Muscular Dystrophy With Cataracts And Intellectual Disability

MDCCAID
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10498 PIGP Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PIGP VGNC VGNC:103697
Macaca mulatta PIGP VGNC VGNC:81739
Rattus norvegicus PIGP RGD RGD:1307205
Mus musculus PIGP MGD MGI:1860433