Gene Gene information from NCBI Gene database.
Entrez ID 93183
Gene name Phosphatidylinositol glycan anchor biosynthesis class M
Gene symbol PIGM
Synonyms (NCBI Gene)
GPI-MT-I
Chromosome 1
Chromosome location 1q23.2
Summary This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. T
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs587776528 G>C Pathogenic Upstream transcript variant
rs776715594 A>G Likely-pathogenic Initiator codon variant, missense variant
miRNA miRNA information provided by mirtarbase database.
786
miRTarBase ID miRNA Experiments Reference
MIRT024531 hsa-miR-215-5p Microarray 19074876
MIRT026741 hsa-miR-192-5p Sequencing 20371350
MIRT026741 hsa-miR-192-5p Microarray 19074876
MIRT610643 hsa-miR-1264 HITS-CLIP 23824327
MIRT610642 hsa-miR-186-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IBA
GO:0004376 Function GPI mannosyltransferase activity IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 11226175
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610273 18858 ENSG00000143315
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3S5
Protein name GPI alpha-1,4-mannosyltransferase I, catalytic subunit (EC 2.4.1.-) (GPI mannosyltransferase I) (GPI-MT-I) (Phosphatidylinositol-glycan biosynthesis class M protein) (PIG-M)
Protein function Catalytic subunit of the glycosylphosphatidylinositol-mannosyltransferase I complex which catalyzes the transfer of the first mannose, via an alpha-1,4 bond from a dolichol-phosphate-mannose (Dol-P-Man) to the glucosaminyl acyl phosphatidylinosi
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05007 Mannosyl_trans 140 408 Mannosyltransferase (PIG-M) Family
Sequence
Sequence length 423
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosylphosphatidylinositol (GPI)-anchor biosynthesis
Metabolic pathways
  Synthesis of glycosylphosphatidylinositol (GPI)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 CTD, Disgenet, HPO
CTD, Disgenet, HPO
CTD, Disgenet, HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Uncertain significance; Likely benign; Benign; no classifications from unflagged records; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PIGM-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SEIZURES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Atypical absence seizure Absence Seizure BEFREE 31445883
★☆☆☆☆
Found in Text Mining only
CD59 Deficiency CD59 Deficiency BEFREE 16926129
★☆☆☆☆
Found in Text Mining only
Clonic Seizures Clonic Seizures CTD_human_DG 16767100
★☆☆☆☆
Found in Text Mining only
Complex partial seizures Seizure CTD_human_DG 16767100
★☆☆☆☆
Found in Text Mining only
Deep Vein Thrombosis Thrombosis CTD_human_DG 16767100
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 17442906
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy Pubtator 17442906 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Absence Absence epilepsy Pubtator 31445883 Associate
★☆☆☆☆
Found in Text Mining only
Epileptic drop attack Hypotonic seizures CTD_human_DG 16767100
★☆☆☆☆
Found in Text Mining only
Epileptic drop attack Hypotonic seizures HPO_DG
★☆☆☆☆
Found in Text Mining only