PIGY - phosphatidylinositol glycan anchor biosynthesis class Y Gene

Also Known as PIG-Y; HPMRS6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84992

About PIGY

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:88,520,998-88,523,776 (from NCBI)

This gene has 1 transcript (splice variant), 120 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 45.6), fat (RPKM 42.6) and 25 other tissues.

Summary

The protein encoded by this gene is part of the GPI-N-acetylglucosaminyltransferase (GIP-GnT) complex which initiates the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is synthesized in the endoplasmic reticulum and serves as an anchor for many surface proteins. Proteins containing GPI anchors can have an important role in cell-cell interactions. The transcript for this gene is bicistronic. The downstream open reading frame encodes this GPI-GnT complex protein, while the upstream open reading frame encodes a protein with unknown function, as represented by GeneID:100996939. [provided by RefSeq, Aug 2012]

PIGY Products (1)

mRNA	Protein	Name
NM_001042616.3	NP_001036081.1	phosphatidylinositol N-acetylglucosaminyltransferase subunit Y

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
contributes to phosphatidylinositol N-acetylglucosaminyltransferase activity	IDA IDA: Inferred from direct assay	16162815	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16162815	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
acts upstream of or within GPI anchor biosynthetic process	IDA IDA: Inferred from direct assay	16162815	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA IDA: Inferred from direct assay	16162815	GOA
part of glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI IPI: Inferred from physical interaction	16162815	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16162815	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

PIGY Protein Structure

PIG-Y

0
71 a.a.

Protein Preferred Names	Protein Names
phosphatidylinositol N-acetylglucosaminyltransferase subunit Y	phosphatidylinositol-glycan biosynthesis class Y protein

PIGY Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Referencias
Intra	PIGY	Q3MUY2	ERG28	Homo sapiens	Q9UKR5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hyperphosphatasia With Mental Retardation Syndrome 6	Hyperphosphatasia With Intellectual Disability Syndrome 6 HPMRS6 Glycosylphosphatidylinositol Biosynthesis Defect 12 Gpibd12 Hyperphosphatasia With Mental Retardation Syndrome, Type 6
Hyperphosphatasia-Intellectual Disability Syndrome	Mabry Syndrome Hyperphosphatasia With Mental Retardation
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
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
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Congenital Muscular Dystrophy With Cataracts And Intellectual Disability MDCCAID
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
Polymicrogyria, Bilateral Temporooccipital	Bilateral Parasagittal Parieto-Occipital Polymicrogyria BTOP Bilateral Temporooccipital Polymicrogyria Polymicrogyria
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 3	MCAHS3 Glycosylphosphatidylinositol Biosynthesis Defect 7 Gpibd7 Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome Congenital Disorder Of Glycosylation Due To Pigt Deficiency Mcahs Type 3 Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome Type 3 Pigt-Cdg Multiple Congenital Anomalies, Hypotonia, Seizures Syndrome, Type 3
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
Congenital Disorder Of Glycosylation, Type Iiq	CDG2Q Cdg Iiq Cdgiiq Congenital Disorder Of Glycosylation Type Iiq Cog2-Cdg Cog2-Related Congenital Disorder Of Glycosylation Cdgiidq Congenital Disorder Of Glycosylation 2q Cdg-Iiq
Developmental And Epileptic Encephalopathy 15	DEE15 Epileptic Encephalopathy, Early Infantile, 15 Eiee15 Developmental And Epileptic Encephalopathy, 15 Early Infantile Epileptic Encephalopathy 15 Encephalopathy, Epileptic, Early Infantile, Type 15 Early Infantile Epileptic Encephalopathy With Suppression Bursts X-Linked Infantile Spasm Syndrome
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
Bleeding Disorder, Platelet-Type, 9	Platelet-Type Bleeding Disorder 9 Glycoprotein Ia Deficiency BDPLT9 Gp Ia Deficiency Collagen Platelet Receptor Deficiency Bleeding Diathesis Due To Integrin Alpha2-Beta1 Deficiency Bleeding Disorder, Platelet Type 9
Developmental And Epileptic Encephalopathy 36	Congenital Disorder Of Glycosylation Type I Epileptic Encephalopathy, Early Infantile, 36 Congenital Disorder Of Glycosylation, Type Is Cdg1s Congenital Disorder Of Glycosylation, Type Ie CDG1E Congenital Disorder Of Glycosylation Type 1e DEE36 Eiee36 Cdg Is Cdgis Congenital Disorder Of Glycosylation Ie Congenital Disorder Of Glycosylation 1e Cdg-Is Congenital Disorder Of Glycosylation Type Is Developmental And Epileptic Encephalopathy, 36 Cdg Ie Cdgie Early Infantile Epileptic Encephalopathy 36 Alg13-Cdg Cdg Syndrome Type Is Congenital Disorder Of Glycosylation Type 1s Dpm1-Cdg Cdg Syndrome Type Ie Cdg-Ie Carbohydrate Deficient Glycoprotein Syndrome Type Ie Congenital Disorder Of Glycosylation Type Ie Dol-P-Mannosyltransferase Deficiency Congenital Disorder Of Glycosylation 1s Glycosylation, Congenital Disorder Of, Type I Glycosylation, Congenital Disorder Of, Type Ie Congenital Disorder Of Glycosylation Type 1a Congenital Disorder Of Glycosylation, Type Iu
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
B-Cell Adult Acute Lymphocytic Leukemia	Adult B Acute Lymphoblastic Leukemia Adult B Acute Lymphoblastic Leukaemia Adult B-Cell Acute Lymphoblastic Leukaemia Adult B-Cell Acute Lymphoblastic Leukemia Adult B-Cell Lymphocytic Leukaemia Adult B-Cell Lymphocytic Leukemia Adult B-Lymphoblastic Leukaemia Adult B-Lymphoblastic Leukemia B-Cell Adult Acute Lymphocytic Leukaemia B-Cell Adult Acute Lymphoblastic Leukemia
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
Hemometra	Hematometra
Burkitt Lymphoma	Burkitt'S Lymphoma BL Burkitt Lymphoma, Somatic Burkitt Lymphoma/Leukaemia Burkitt'S Tumor Burkitt'S Tumor Or Lymphoma Malignant Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma, Burkitt'S Type Small Non-Cleaved Cell Lymphoma Burkitt Tumor Burkitts Lymphoma Lymphoma, Small Noncleaved-Cell Burkitt Tumour Diffuse Small Noncleaved Malignant Burkitt Lymphoma Malignant Burkitt Lymphoma “Burkitt-Like” Lymphoma Undifferentiated Burkitt Lymphoma Small Noncleaved Cell Burkitt Lymphoma
Wrinkly Skin Syndrome	WSS Wrinkled Skin Syndrome
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
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)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS10507	PIGY Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIGY	RGD	RGD:2318067
Mus musculus	PIGY	MGD	MGI:1913518