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

Homo sapiens

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

Gene ID: 80055 | Gene type: protein coding

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10377	PGAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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