PGAP1 - post-GPI attachment to proteins inositol deacylase 1 Gene

Also Known as Bst1; MRT42; SPG67; NEDDSBA; ISPD3024

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80055

About PGAP1

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:196,833,004-196,926,707 (from NCBI)

This gene has 11 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 6.0), brain (RPKM 5.4) and 24 other tissues.

Summary

The protein encoded by this gene functions early in the glycosylphosphatidylinositol (GPI) biosynthetic pathway, catalyzing the inositol deacylation of GPI. The encoded protein is required for the production of GPI that can attach to proteins, and this may be an important factor in the transport of GPI-anchored proteins from the endoplasmic reticulum to the Golgi. Defects in this gene are a cause an autosomal recessive form of cognitive impairment. [provided by RefSeq, Jul 2017]

PGAP1 Products (3)

mRNA	Protein	Name
NM_001321099.2	NP_001308028.1	GPI inositol-deacylase isoform 2
NM_001321100.2	NP_001308029.1	GPI inositol-deacylase isoform 3
NM_024989.4	NP_079265.2	GPI inositol-deacylase isoform 1

PGAP1 Protein Structure

PGAP1

0
200
400
600
800
922 a.a.

Protein Preferred Names	Protein Names
GPI inositol-deacylase	post-GPI attachment to proteins 1

Related Diseases

Diseases	Alias
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Glycosylphosphatidylinositol Biosynthesis Defect 9 NEDDSBA Gpibd9 Mental Retardation, Autosomal Recessive 42 Mrt42 Mental Retardation, Autosomal Recessive, Type 42
Autosomal Recessive Spastic Paraplegia Type 67	Spg67
Autosomal Recessive Non-Syndromic Intellectual Disability	Ar-Nsid Ns-Arid
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Spastic Paraplegia 63, Autosomal Recessive	SPG63 Hereditary Spastic Paraplegia 63 Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia Type 63 Paraplegia, Spastic, Type 63, Autosomal Recessive
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
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
Bardet-Biedl Syndrome 12	BBS12 Bardet-Biedl Syndrome Bbs Bardet-Biedl Syndrome, Type 12
Glass Syndrome	Chromosome 2q32-Q33 Deletion Syndrome Satb2-Associated Syndrome 2q33.1 Microdeletion Syndrome Sas 2q32-Q33 Microdeletion Syndrome 2q32q33 Microdeletion Syndrome Monosomy 2q32 Monosomy 2q32-Q33 Monosomy 2q32q33 2q32 Deletion Syndrome Del(2)(Q32) Del(2)(Q32q33) GLASS 2q32q33 Microdeletion Syndromes Satb2 Syndrome Satb2-Associated Syndrome Due To A Chromosomal Rearrangement Del(2)(Q33.1) Monosomy 2q33.1 Satb2-Associated Syndrome Due To A Pathogenic Variant Satb2-Associated Syndrome Due To A Point Mutation Satb2 Associated Disorder
Spastic Paraplegia 64, Autosomal Recessive	SPG64 Hereditary Spastic Paraplegia 64 Autosomal Recessive Spastic Paraplegia Type 64 Autosomal Recessive Spastic Paraplegia 64 Paraplegia, Spastic, Type 64, Autosomal Recessive
Vascular Myelopathy	Vascular Myelopathies
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
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
Developmental And Epileptic Encephalopathy 80	DEE80 Glycosylphosphatidylinositol Biosynthesis Defect 20 Gpibd20 Epileptic Encephalopathy, Early Infantile, 80 Eiee80 Developmental And Epileptic Encephalopathy, 80 Early Infantile Epileptic Encephalopathy 80
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	MCAHS1 Glycosylphosphatidylinositol Biosynthesis Defect 3 Gpibd3 Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 1
Salt And Pepper Syndrome	Salt & Pepper Syndrome Salt-And-Pepper Syndrome
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Congenital Muscular Dystrophy With Cataracts And Intellectual Disability MDCCAID
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Cardiovascular Syphilis	Syphilis, Cardiovascular
Spastic Paraplegia 26, Autosomal Recessive	SPG26 Hereditary Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia Type 26 Gm2 Synthase Deficiency Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia 26 Paraplegia, Spastic, Autosomal Recessive, Type 26
Spastic Paraplegia 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
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
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Autosomal Recessive Intellectual Developmental Disorder	Mental Retardation, Autosomal Recessive Autosomal Recessive Mental Retardation Autosomal Recessive Non-Syndromic Mental Retardation Autosomal Recessive Non-Syndromic Intellectual Disability
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
Spastic Ataxia	Spax Ataxia, Spastic
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
West Syndrome	Infantile Spasms Infantile Spasms Syndrome Infantile Spasm X-Linked Infantile Spasm Syndrome X-Linked Infantile Spasms Epileptic Encephalopathy, Early Infantile, 1 Is Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg West'S Syndrome Spasms, Infantile Is -[Infantile Spasm] Salaam Spasm Salaam Tic
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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 (3)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS10377	PGAP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21019	Pgap1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27536	Pgap1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PGAP1	MGD	MGI:2443342
Canis familiaris	PGAP1	VGNC	VGNC:44452
Bos taurus	PGAP1	VGNC	VGNC:32781
Macaca mulatta	PGAP1	VGNC	VGNC:99391
Felis catus	PGAP1	VGNC	VGNC:64118
Rattus norvegicus	PGAP1	RGD	RGD:1303213
Others	PGAP1	NCBI