PIGU (phosphatidylinositol glycan anchor biosynthesis class U)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 128869
Gene name Phosphatidylinositol glycan anchor biosynthesis class U
Gene symbol PIGU
Synonyms (NCBI Gene)
CDC91L1GAB1GPIBD21NEDBSSPIG-U
Chromosome 20
Chromosome location 20q11.22
Summary The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Cdc91, a predicted integral membrane protein that may function in cell division control. The protein encoded by this gene is the fifth subunit of GPI transamidase that attach
SNPs SNP information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs756912205 G>T Pathogenic Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs1600656141 A>T Pathogenic Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
28
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
miRTarBase ID miRNA Experiments Reference
MIRT032423 hsa-let-7b-5p Proteomics 18668040
MIRT1233593 hsa-miR-1231 CLIP-seq
MIRT1233594 hsa-miR-3120-5p CLIP-seq
MIRT1233595 hsa-miR-3192 CLIP-seq
MIRT1233596 hsa-miR-3667-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0003923 Function GPI-anchor transamidase activity IDA 35165458
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane NAS 12802054
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608528 15791 ENSG00000101464
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H490
Protein name GPI-anchor transamidase component PIGU (Cell division cycle protein 91-like 1) (Protein CDC91-like 1) (GPI transamidase component PIG-U) (Phosphatidylinositol glycan anchor biosynthesis class U protein)
Protein function Component 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 (PubMed:128020
PDB 7W72 , 7WLD , 8IMX , 8IMY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06728 PIG-U 10 → 394 Family
Sequence
Sequence length 435
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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.).
31
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glycosylphosphatidylinositol biosynthesis defect 21 Likely pathogenic; Pathogenic rs2146684649, rs1600656141, rs756912205 RCV002266611
RCV000850491
RCV000850492
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (30)
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
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (128)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 19665053, 28365441
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer GWASCAT_DG 30510241
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma GWASCAT_DG 30510241
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 26222673
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 21804548
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21804548
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25586491, 27811945
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 25586491, 38057792 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 17211494 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Biliary Tract Cancer Biliary Tract Cancer BEFREE 25217982
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations