PIGK - phosphatidylinositol glycan anchor biosynthesis class K Gene

Also Known as GPI8; NEDHCAS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10026

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

PIGK Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	PIGK	Q92643	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	33961781
Intra	PIGK	Q92643	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	10793132
Intra	PIGK	Q92643	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	28514442
Intra	PIGK	Q92643	GPAA1	Homo sapiens	O43292	TAP	12802054
Intra	PIGK	Q92643	GPAA1	Homo sapiens	O43292	Anti Tag CoIP	11483512
Intra	PIGK	Q92643	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	33961781
Intra	PIGK	Q92643	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	28514442
Intra	PIGK	Q92643	PIGT	Homo sapiens	Q969N2	TAP	12802054
Intra	PIGK	Q92643	PIGT	Homo sapiens	Q969N2	Anti Tag CoIP	11483512

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS10493	PIGK Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PIGK	NCBI