1. Gene
  2. PIGK - phosphatidylinositol glycan anchor biosynthesis class K Gene

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

Peptidase_C13: Peptidase C13 family (45 - 277)

  • 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

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