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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
81
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Uncertain significance; Likely benign; Benign; no classifications from unflagged records; Conflicting classifications of pathogenicity rs201082832, rs773106649, rs1648302230, rs200046659, rs776974327, rs61747491, rs12409352, rs187311473, rs41265753, rs143391350, rs745664346, rs758854084, rs536604932, rs780718300, rs143961780
View all (50 more)
RCV001319848
RCV001323356
RCV001364648
RCV001451157
RCV001455796
RCV001514593
RCV001510279
RCV001523026
RCV001516566
RCV001974040
RCV002045396
RCV001900969
RCV001922531
RCV001921565
RCV001957918
RCV002116902
RCV000001351
RCV002171130
RCV002305005
RCV002303541
RCV003076395
RCV003063474
RCV003083654
RCV003085885
RCV003088275
RCV001852112
RCV000554780
RCV002654604
RCV002590742
RCV002701161
RCV002754989
RCV002736024
RCV002766729
RCV002780854
RCV002932451
RCV002938434
RCV002957257
RCV002948389
RCV002962394
RCV002995713
RCV003029041
RCV005098986
RCV003333385
RCV003496485
RCV003496978
RCV003497238
RCV003494851
RCV003494939
RCV003496670
RCV003600490
RCV003601736
RCV003601722
RCV003600228
RCV003600163
RCV003601224
RCV003601254
RCV003601915
RCV003824113
RCV003870806
RCV002526031
RCV001206454
RCV000958508
RCV000793167
RCV000823631
RCV000955803
RCV002540044
RCV001480913
RCV001247956
RCV001301494
PIGM-related disorder Benign; Likely benign; Uncertain significance rs61747491, rs187311473, rs547183890, rs1174013312, rs755366154, rs375538606, rs750695305 RCV003980526
RCV004743542
RCV003399490
RCV003429095
RCV003392444
RCV003930611
RCV003923133
See cases Uncertain significance rs2101919624 RCV002253050
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Epilepsy Associate 17442906
Epilepsy Absence Associate 31445883
Immunologic Deficiency Syndromes Associate 31445883
Intellectual Disability Associate 23561847
Intracranial Thrombosis Associate 31445883
Megalencephaly Associate 31445883
Muscle Hypotonia Associate 23561847
Neoplastic Syndromes Hereditary Associate 25293775
Retinal Vein Occlusion Associate 17442906, 31445883
Seizures Associate 23561847