PIGP - phosphatidylinositol glycan anchor biosynthesis class P Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51227

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	References	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	References	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	References	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

0
100
158 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit P	Down syndrome critical region gene 5

PIGP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIGP	P57054	SMAGP	Homo sapiens	Q0VAQ4	Validated Y2H	32296183
Intra	PIGP	P57054	NINJ2	Homo sapiens	Q9NZG7	Validated Y2H	32296183
Intra	PIGP	P57054	PLP1	Homo sapiens	P60201-2	Validated Y2H	32296183
Intra	PIGP	P57054	TMEM229B	Homo sapiens	Q8NBD8	Validated Y2H	32296183
Intra	PIGP	P57054	TMEM107	Homo sapiens	Q6UX40	Validated Y2H	32296183
Intra	PIGP	P57054	LHFPL3	Homo sapiens	Q86UP9	Validated Y2H	32296183
Intra	PIGP	P57054	PIGA	Homo sapiens	P37287	Anti Tag CoIP	33961781
Intra	PIGP	P57054	SCAMP5	Homo sapiens	Q8TAC9	Validated Y2H	32296183
Intra	PIGP	P57054	UBIAD1	Homo sapiens	Q9Y5Z9	Validated Y2H	32296183
Intra	PIGP	P57054	FIS1	Homo sapiens	Q9Y3D6	Validated Y2H	32296183
Intra	PIGP	P57054	DHRSX	Homo sapiens	Q8N5I4	Validated Y2H	32296183
Intra	PIGP	P57054	PLP2	Homo sapiens	Q04941	Validated Y2H	32296183
Intra	PIGP	P57054	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
Intra	PIGP	P57054	TMEM19	Homo sapiens	Q96HH6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	PIGP	NCBI