2. Gene
  3. PGAP3 - post-GPI attachment to proteins phospholipase 3 Gene

PGAP3 - post-GPI attachment to proteins phospholipase 3 Gene

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

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

Gene ID: 93210 | Gene type: protein coding

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

PGAP3 Protein Structure

Per1

Per1: Per1-like family (52 - 305)

  • 0
  • 100
  • 200
  • 300
  • 320 a.a.
Protein Preferred Names Protein Names

post-GPI attachment to proteins factor 3

COS16 homolog

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10378 PGAP3 Human Pre-designed siRNA Set A / 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