Gene Gene information from NCBI Gene database.
Entrez ID 10026
Gene name Phosphatidylinositol glycan anchor biosynthesis class K
Gene symbol PIGK
Synonyms (NCBI Gene)
GPI8NEDHCAS
Chromosome 1
Chromosome location 1p31.1
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 pro
miRNA miRNA information provided by mirtarbase database.
374
miRTarBase ID miRNA Experiments Reference
MIRT1233291 hsa-miR-106a CLIP-seq
MIRT1233292 hsa-miR-106b CLIP-seq
MIRT1233293 hsa-miR-1185 CLIP-seq
MIRT1233294 hsa-miR-1197 CLIP-seq
MIRT1233295 hsa-miR-1238 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0003923 Function GPI-anchor transamidase activity IBA
GO:0003923 Function GPI-anchor transamidase activity IDA 35551457, 37684232
GO:0003923 Function GPI-anchor transamidase activity IEA
GO:0003923 Function GPI-anchor transamidase activity IMP 10793132
GO:0003923 Function GPI-anchor transamidase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605087 8965 ENSG00000142892
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92643
Protein name GPI-anchor transamidase (EC 2.6.1.-) (GPI-anchor transamidase component PIGK, catalytic subunit) (GPI8 homolog) (hGPI8) (Phosphatidylinositol-glycan biosynthesis class K protein) (PIG-K)
Protein function Catalytic subunit of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMe
PDB 7W72 , 7WLD , 8IMX , 8IMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01650 Peptidase_C13 45 306 Peptidase C13 family Family
Sequence
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Attachment of GPI anchor to uPAR
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures Pathogenic rs747692385, rs2100594030, rs778946833, rs1654968072, rs1656295216, rs772948495, rs1164656857, rs1656391998, rs1656392054 RCV001684645
RCV001684646
RCV004586276
RCV001095378
RCV001095379
RCV001095380
RCV001095381
RCV001095382
RCV001095383
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DISORDER OF DEVELOPMENT OR MORPHOGENESIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 18487995
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia Associate 32220290
★☆☆☆☆
Found in Text Mining only
Cerebellar Diseases Associate 32220290
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Inhibit 36405728
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 32220290
★☆☆☆☆
Found in Text Mining only
Epilepsy Associate 32220290
★☆☆☆☆
Found in Text Mining only
Facial Dysmorphism with Multiple Malformations Associate 32220290
★☆☆☆☆
Found in Text Mining only
Glycosylphosphatidylinositol deficiency Associate 32220290
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Associate 32220290
★☆☆☆☆
Found in Text Mining only
Lymphoma Associate 18487995
★☆☆☆☆
Found in Text Mining only