PIGY - phosphatidylinositol glycan anchor biosynthesis class Y Gene

Homo sapiens

Also known as PIG-Y; HPMRS6

Gene ID: 84992 | Gene type: protein coding

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

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10507	PIGY Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

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