Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
93183
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphatidylinositol glycan anchor biosynthesis class M
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PIGM
Synonyms (NCBI Gene) Gene synonyms aliases
GPI-MT-I
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000030 Function Mannosyltransferase activity IBA 21873635
GO:0004376 Function Glycolipid mannosyltransferase activity IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006506 Process GPI anchor biosynthetic process IBA 21873635
GO:0016021 Component Integral component of membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610273 18858 ENSG00000143315
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Glycosylphosphatidylinositol deficiency Glycosylphosphatidylinositol deficiency rs1010907740, rs1554764080, rs1554764067, rs782768127, rs782220208, rs1553259614, rs1553259602, rs782615259, rs761543313, rs776038451, rs1263517814, rs1567618413, rs1567614073, rs1426262136, rs1567616570
View all (3 more)
16767100, 17442906, 25293775
Hypercoagulability syndrome Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency rs587776528 25293775
Seizure Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061
View all (179 more)
16767100
Associations from Text Mining
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