PIGM - phosphatidylinositol glycan anchor biosynthesis class M Gene

Also Known as GPI-MT-I

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 93183

About PIGM

Cytogenetic location: 1q23.2 Genomic coordinates (GRCh38): 1:160,024,953-160,031,990 (from NCBI)

This gene has 1 transcript (splice variant), 167 orthologues and is associated with 3 phenotypes.

Summary

This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008]

PIGM Products (1)

mRNA	Protein	Name
NM_145167.3	NP_660150.1	GPI mannosyltransferase 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	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

PIGM Protein Structure

Mannosyl_trans

0
100
200
300
400
423 a.a.

Protein Preferred Names	Protein Names
GPI mannosyltransferase 1	DPM:GlcN-(acyl-)PI mannosyltransferase

PIGM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	PIGM	Q9H3S5	STARD7	Homo sapiens	Q9NQZ5	Anti Tag CoIP	33961781
Intra	PIGM	Q9H3S5	STARD7	Homo sapiens	Q9NQZ5	Anti Tag CoIP	28514442

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Glycosylphosphatidylinositol Biosynthesis Defect 1	Glycosylphosphatidylinositol Deficiency Hypercoagulability Syndrome Due To Glycosylphosphatidylinositol Deficiency GPIBD1 Gpid Congenital Disorder Of Glycosylation Due To Pigm Deficiency Pigm-Cdg Portal Hypertension With Seizures And/Or Macrocephaly Gpi Deficiency
Portal Vein Thrombosis	Phlebitis Of Portal Vein Deep Vein Thrombosis Of Portal Vein Portal Thrombosis Pvt - [Portal Vein Thrombosis] Portal Venous Thrombosis Portal Venous Embolism Portal Venous Obstruction Portal Venous Block Portal Vein Embolism Portal Vein Block Portal Obstruction Portal Embolism Portal Block Hepatic Portal Vein Obstruction Occlusion Of Hepatic Portal Vein Portal Vein Obstruction
Traumatic Glaucoma	Glaucoma Associated With Ocular Trauma
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
Thrombosis	Thrombosis Of Blood Vessel
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Developmental And Epileptic Encephalopathy 42	DEE42 Epileptic Encephalopathy, Early Infantile, 42 Eiee42 Developmental And Epileptic Encephalopathy, 42 Early Infantile Epileptic Encephalopathy 42 Encephalopathy, Epileptic, Early Infantile, Type 42
Portal Hypertension	Hypertension, Portal Hypertension Portal Pht - [Portal Hypertension] Portal Htn
Congenital Muscular Dystrophy-Dystroglycanopathy Type A2	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2 Mddga2 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
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
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
Congenital Muscular Dystrophy-Dystroglycanopathy Type A1	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1 Mddga1 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
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
Immunodeficiency 23	Cid Due To Pgm3 Deficiency Combined Immunodeficiency Due To Pgm3 Deficiency Pgm3-Cdg Pgm3-Related Congenital Disorder Of Glycosylation IMD23 Immunodeficiency With Hyper Ige And Cognitive Impairment Immunodeficiency-Vasculitis-Myoclonus Syndrome Ivms Phosphoglucomutase 3 Deficiency Phosphoglucomutase Deficiency Type 3 Pgm3-Congenital Disorder Of Glycosylation Agm1 Deficiency Deficiency Of N-Acetylglucosamine-Phosphate Mutase 1 Deficiency Of Phosphoglucomutase 3 Pgm3 Deficiency Immunodeficiency, Type 23
Budd-Chiari Syndrome	Hepatic Vein Thrombosis Chiari Syndrome BDCHS Membranous Obstruction Of The Inferior Vena Cava Budd-Chiari Syndrome, Somatic Movc Budd-Chiari Syndrome, Susceptibility To, Somatic Budd-Chiari Syndrome, Susceptibility To Membranous Obstruction Of Inferior Vena Cava Hepatic Vein Block Obstruction Of Hepatic Veins Hepatic Vein Obstruction Hepatic Venous Block
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
Congenital Disorder Of Glycosylation, Type In	Congenital Disorder Of Glycosylation CDG1N Congenital Disorders Of Glycosylation Cdg In Cdgin Congenital Disorder Of Glycosylation 1n Carbohydrate-Deficient Glycoprotein Syndrome Cdg Rft1-Cdg Cdg-In Congenital Disorder Of Glycosylation Type In Carbohydrate Deficient Glycoprotein Syndrome Cdg Syndrome Congenital Disorder Of Glycosylation In Carbohydrate-Deficient Glycoprotein Syndromes Cdg Syndrome Type In Carbohydrate Deficient Glycoprotein Syndrome Type In Congenital Disorder Of Glycosylation Type 1n Man5glcnac2-Pp-Dol Flippase Deficiency Glycosylation, Congenital Disorder Of Glycosylation, Congenital Disorder Of, Type In
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 (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS10495	PIGM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19933	Pigm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26435	Pigm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PIGM	VGNC	VGNC:32872
Rattus norvegicus	PIGM	RGD	RGD:71041
Mus musculus	PIGM	MGD	MGI:1914806
Canis familiaris	PIGM	VGNC	VGNC:44537
Felis catus	PIGM	VGNC	VGNC:82347
Macaca mulatta	PIGM	VGNC	VGNC:100034
Others	PIGM	NCBI