PIGV - phosphatidylinositol glycan anchor biosynthesis class V Gene

Also Known as PIG-V; HPMRS1; GPI-MT-II

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55650

About PIGV

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,787,054-26,800,659 (from NCBI)

This gene has 21 transcripts (splice variants), 203 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 19.4), thyroid (RPKM 7.7) and 25 other tissues.

Summary

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]

PIGV Products (10)

mRNA	Protein	Name
NM_001202554.2	NP_001189483.1	GPI mannosyltransferase 2 isoform a
NM_001374478.1	NP_001361407.1	GPI mannosyltransferase 2 isoform a
NM_001374480.1	NP_001361409.1	GPI mannosyltransferase 2 isoform a
NM_001374481.1	NP_001361410.1	GPI mannosyltransferase 2 isoform a
NM_001374482.1	NP_001361411.1	GPI mannosyltransferase 2 isoform a
NM_001374483.1	NP_001361412.1	GPI mannosyltransferase 2 isoform b
NM_001374484.1	NP_001361413.1	GPI mannosyltransferase 2 isoform c
NM_001374485.1	NP_001361414.1	GPI mannosyltransferase 2 isoform c
NM_001374486.1	NP_001361415.1	GPI mannosyltransferase 2 isoform d
NM_017837.4	NP_060307.2	GPI mannosyltransferase 2 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables mannosyltransferase activity	IGI IGI: Inferred from genetic interaction	15623507	GOA
enables mannosyltransferase activity	IMP IMP: Inferred from mutant phenotype	15623507	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	IGI IGI: Inferred from genetic interaction	15623507	GOA
involved in GPI anchor biosynthetic process	IMP IMP: Inferred from mutant phenotype	15623507	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	15623507	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

PIGV Protein Structure

Mannosyl_trans2

0
100
200
300
400
493 a.a.

Protein Preferred Names	Protein Names
GPI mannosyltransferase 2	GPI mannosyltransferase II

PIGV Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PIGV	Q9NUD9	TGFBR2	Homo sapiens	P37173	Validated Y2H	32814053
Intra	PIGV	Q9NUD9	TGFBR2	Homo sapiens	P37173	Y2H Array	32814053
Intra	PIGV	Q9NUD9	TGFBR2	Homo sapiens	P37173	Y2H Pooling	32814053
Intra	PIGV	Q9NUD9	SERPINH1	Homo sapiens	P50454	Validated Y2H	32814053
Intra	PIGV	Q9NUD9	SERPINH1	Homo sapiens	P50454	Y2H Array	32814053
Intra	PIGV	Q9NUD9	SERPINH1	Homo sapiens	P50454	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hyperphosphatasia With Mental Retardation Syndrome 1	Mabry Syndrome Hyperphosphatasia With Intellectual Disability Syndrome 1 HPMRS1 Glycosylphosphatidylinositol Biosynthesis Defect 2 Gpibd2 Hyperphosphatasia With Mental Retardation Syndrome Hyperphosphatasia With Seizures And Neurologic Deficit Hyperphosphatasia, With Mental Retardation Syndrome, Type 1 Hyperphosphatasia With Mental Retardation
Hyperphosphatasia-Intellectual Disability Syndrome	Mabry Syndrome Hyperphosphatasia With Mental Retardation
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
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
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	Pign-Cdg Congenital Disorder Of Glycosylation Due To Pign Deficiency Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 Mcahs1
Hyperprolinemia, Type Ii	Hyperprolinemia Type 2 HYRPRO2 Hpii 1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia Type Ii 1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency Type 2 Hyperprolinemia Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency Hyperprolinemia 2
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
Coffin-Siris Syndrome 2	CSS2 Mrd14 Mental Retardation, Autosomal Dominant 14 Autosomal Dominant Mental Retardation 14 Coffin-Siris Syndrome, Type 2
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
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Pnpo Deficiency Pyridoxamine 5'-Phosphate Oxidase Deficiency Pnpo-Related Neonatal Epileptic Encephalopathy Pyridoxal Phosphate-Responsive Seizures Pyridoxal 5'-Phosphate-Dependent Epilepsy Pyridoxine-5'-Phosphate Oxidase Deficiency PNPOD Seizures, Pyridoxine-Resistant, Plp-Sensitive Pyridoxal Phosphate-Dependent Seizures Pyridoxamine 5'-Oxidase Deficiency Epileptic Encephalopathy, Neonatal, Pnpo-Related Pyridox Ine 5'-Phosphate Oxidase Deficiency Deficiency, Pyridoxamine 5'-Phosphate Oxidase
Postaxial Acrofacial Dysostosis	Miller Syndrome POADS Genee-Wiedemann Syndrome Postaxial Acrodysostosis Genee-Wiedemann Acrofacial Dysostosis Acrofacial Dysostosis, Genee-Wiedmann Type Mandibulfacial Dysostosis With Postaxial Limb Anomalies Gwafd Poads Syndrome Postaxial Acrofacial Dysostosis Syndrome Wildervanck-Smith Syndrome Acrofacial Dysostosis, Genee-Wiedemann Type Mandibulofacial Dysostosis With Postaxial Limb Anomalies Genée-Wiedemann Syndrome Chromosome 11p Deletion Syndrome
Epilepsy, Pyridoxine-Dependent	Pyridoxine-Dependent Epilepsy PDE Pyridoxine Dependency With Seizures Vitamin B6-Dependent Seizures EPD Aasa Dehydrogenase Deficiency Antiquitin Deficiency Pyridoxine Dependency Glutamate Decarboxylase Deficiency Pyridoxine-Dependent Seizures Deficiency Of Glutamate Decarboxylase
Iris Disease	Iris Diseases
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Anus, Imperforate	Imperforate Anus Anorectal Malformation Anal Atresia Anorectal Malformations Congenital Atresia Of Anus Congenital Or Infantile Occlusion Of Anus Anal Stenosis Arm
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
Inguinal Hernia	Hernia Inguinal Hernia, Inguinal Inguinal Hernias Bubonocele Indirect Inguinal Hernia Direct Inguinal Hernia Oblique Inguinal Hernia Scrotal Hernia Ih - [Inguinal Hernia]
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Childhood Absence Epilepsy	Pyknolepsy Petit Mal Epilepsy Absence Seizures Absence Seizure Petit Mal Seizure Absence Epilepsy, Childhood Pykno-Epilepsy Epilepsy, Absence Absence Epilepsy Pycnolepsy
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
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

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-RS10504	PIGV Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PIGV	VGNC	VGNC:75866
Bos taurus	PIGV	VGNC	VGNC:32880
Rattus norvegicus	PIGV	RGD	RGD:1309526
Felis catus	PIGV	VGNC	VGNC:64170
Mus musculus	PIGV	MGD	MGI:2442480
Canis familiaris	PIGV	VGNC	VGNC:44544
Others	PIGV	NCBI