country

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

PGAP3 - post-GPI attachment to proteins phospholipase 3 Gene

Also Known as CAB2; PERLD1; PP1498; hCOS16; AGLA546

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 93210

About PGAP3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:39,671,122-39,688,057 (from NCBI)

This gene has 11 transcripts (splice variants), 200 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 14.6), skin (RPKM 9.4) and 25 other tissues.

Summary

This gene encodes a glycosylphosphatidylinositol (GPI)-specific Phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from the sn-2 position of GPI. The remodeling of the constituent fatty acids on GPI is thought to be important for the proper association between GPI-anchored proteins and lipid rafts. The tethering of proteins to plasma membranes via posttranslational GPI-anchoring is thought to play a role in protein sorting and trafficking. Mutations in this gene cause an autosomal recessive form of neurologic hyperphosphatasia with cognitive disability (HPMRS4). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]

PGAP3 Products (6)

mRNA	Protein	Name
NM_001291726.2	NP_001278655.1	post-GPI attachment to proteins factor 3 isoform 2 precursor
NM_001291728.2	NP_001278657.1	post-GPI attachment to proteins factor 3 isoform 3 precursor
NM_001291730.2	NP_001278659.1	post-GPI attachment to proteins factor 3 isoform 4 precursor
NM_001291732.2	NP_001278661.1	post-GPI attachment to proteins factor 3 isoform 5 precursor
NM_001291733.2	NP_001278662.1	post-GPI attachment to proteins factor 3 isoform 6 precursor
NM_033419.5	NP_219487.3	post-GPI attachment to proteins factor 3 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables hydrolase activity, acting on ester bonds	IMP IMP: Inferred from mutant phenotype	17021251	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in GPI anchor biosynthetic process	IMP IMP: Inferred from mutant phenotype	29374258	GOA
involved in GPI anchor metabolic process	IMP IMP: Inferred from mutant phenotype	17021251	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12460457	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

PGAP3 Protein Structure

Per1

0
100
200
300
320 a.a.

Protein Preferred Names	Protein Names
post-GPI attachment to proteins factor 3	COS16 homolog

PGAP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Array	32814053
Intra	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Y2H Pooling	32814053
Intra	PGAP3	Q96FM1	GTF3C3	Homo sapiens	Q9Y5Q9	Validated Y2H	32814053
Intra	PGAP3	Q96FM1	TBRG4	Homo sapiens	Q969Z0	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hyperphosphatasia With Mental Retardation Syndrome 4	Hyperphosphatasia With Intellectual Disability Syndrome 4 HPMRS4 Glycosylphosphatidylinositol Biosynthesis Defect 10 Gpibd10 Hyperphosphatasia, With Mental Retardation Syndrome, Type 4
Diaphragmatic Hernia, Congenital	Congenital Diaphragmatic Hernia Diaphragmatic Hernia Cdh Congenital Diaphragmatic Defect Hernia, Diaphragmatic Dih Hernia, Congenital Diaphragmatic Hcd Diaphragmatic Defect, Congenital Diaphragm, Unilateral Agenesis Of Hemidiaphragm, Agenesis Of Diaphragmatic Hernia 1 Agenesis Of Hemidiaphragm Unilateral Agenesis Of Diaphragm Hernia Diaphragmatic Hernia Diaphragmatic Congenital Hernia, Diaphragmatic, Type 1 Hiatus Hernia Oesophageal Hiatus Hernia Paraoesophageal Hernia Sliding Hiatus Hernia Congenital Diaphragm Hernia Congenital Diaphragm Defect With Hernia Gross Congenital Diaphragm Defect
Hyperphosphatasia-Intellectual Disability Syndrome	Mabry Syndrome Hyperphosphatasia With Mental Retardation
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Gestational Ovarian Choriocarcinoma
Non-Gestational Ovarian Choriocarcinoma
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
Choriocarcinoma Of Ovary	Ovarian Choriocarcinoma
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
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 1	MCAHS1 Glycosylphosphatidylinositol Biosynthesis Defect 3 Gpibd3 Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	MCAHS2 Glycosylphosphatidylinositol Biosynthesis Defect 4 Developmental And Epileptic Encephalopathy 20 Epileptic Encephalopathy, Early Infantile, 20 Eiee20 Gpibd4 Early Infantile Epileptic Encephalopathy 20 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 2 Mcahs Type 2 Dee20 Fccs Ferro-Cerebro-Cutaneous Syndrome Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 2
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
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

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-RS10378	PGAP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PGAP3	VGNC	VGNC:64120
Bos taurus	PGAP3	VGNC	VGNC:32783
Mus musculus	PGAP3	MGD	MGI:2444461
Macaca mulatta	PGAP3	VGNC	VGNC:75853
Canis familiaris	PGAP3	VGNC	VGNC:44454
Rattus norvegicus	PGAP3	RGD	RGD:1592386
Others	PGAP3	NCBI