PIGK - phosphatidylinositol glycan anchor biosynthesis class K Gene

Homo sapiens

Also known as GPI8; NEDHCAS

Gene ID: 10026 | Gene type: protein coding

About PIGK

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:77,088,989-77,219,430 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 12.4), adrenal (RPKM 9.0) and 25 other tissues.

Summary

This gene encodes a member of the cysteine protease family C13 that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is a member of the multisubunit Enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]

PIGK Products(1)

mRNA	Protein	Name
NM_005482.3	NP_005473.1	GPI-anchor transamidase precursor

PIGK Protein Structure

Peptidase_C13

0
100
200
300
395 a.a.

Protein Preferred Names

Protein Names

GPI-anchor transamidase

GPI transamidase subunit

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy

Glycosylphosphatidylinositol Biosynthesis Defect 13	Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Gpibd13	NEDHCAS
Glycosylphosphatidylinositol Biosynthesis Defect 22	Gpibd22
NEDHSCA	Intellectual Developmental Disorder, Autosomal Recessive 53, Formerly
Mrt53, Formerly	Mental Retardation, Autosomal Recessive 53, Formerly
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Congenital Disorder Of Glycosylation Due To Pigg Deficiency
Pigg-Cdg	Intellectual Developmental Disorder, Autosomal Recessive 53
MRT53

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

Hypotonia

Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome

Pign-Cdg	Congenital Disorder Of Glycosylation Due To Pign Deficiency
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Mcahs1

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

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Rapp-Hodgkin Syndrome

RHS	Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
Ectodermal Dysplasia, Rapp-Hodgkin Type	Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate	Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Edrh	Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8

Sleeping Sickness

African Trypanosomiasis	African Sleeping Sickness
Trypanosomiasis, Human East-African	Trypanosomiasis, East African
Trypanosomiasis African	Trypanosomiasis, African
Human African Trypanosomiasis

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-RS10493	PIGK Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PIGK	RGD	RGD:1306753
Felis catus	PIGK	VGNC	VGNC:68845
Canis familiaris	PIGK	VGNC	VGNC:44535
Macaca mulatta	PIGK	VGNC	VGNC:75988
Mus musculus	PIGK	MGD	MGI:1913863
Bos taurus	PIGK	VGNC	VGNC:32870