Gene Gene information from NCBI Gene database.
Entrez ID 57134
Gene name Mannosidase alpha class 1C member 1
Gene symbol MAN1C1
Synonyms (NCBI Gene)
HMICMAN1A3MAN1Cpp6318
Chromosome 1
Chromosome location 1p36.11
miRNA miRNA information provided by mirtarbase database.
345
miRTarBase ID miRNA Experiments Reference
MIRT020204 hsa-miR-130b-3p Sequencing 20371350
MIRT028164 hsa-miR-93-5p Sequencing 20371350
MIRT050567 hsa-miR-20a-5p CLASH 23622248
MIRT623327 hsa-miR-552-3p HITS-CLIP 19536157
MIRT709826 hsa-miR-6871-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS 10915796
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IBA
GO:0004571 Function Mannosyl-oligosaccharide 1,2-alpha-mannosidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616772 19080 ENSG00000117643
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR34
Protein name Mannosyl-oligosaccharide 1,2-alpha-mannosidase IC (EC 3.2.1.113) (HMIC) (Mannosidase alpha class 1C member 1) (Processing alpha-1,2-mannosidase IC) (Alpha-1,2-mannosidase IC)
Protein function Involved in the maturation of Asn-linked oligosaccharides. Trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce first Man(8)GlcNAc(2) then Man(6)GlcNAc and a small amount of Man(5)GlcNAc.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01532 Glyco_hydro_47 181 617 Glycosyl hydrolase family 47 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in most tissues with the exception of lung, muscle and pancreas. Highly expressed in placenta.
Sequence
Sequence length 630
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum
  Intra-Golgi traffic
Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
MAN1C1-related disorder Likely benign; Benign; Uncertain significance rs371173401, rs1228948770, rs187331964, rs150201998, rs79893268, rs139260749, rs573023765, rs377564466, rs116009723 RCV003912292
RCV003911474
RCV003909591
RCV003914447
RCV003922152
RCV003946936
RCV003957219
RCV004758297
RCV003916163
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aging Premature Associate 21966431
Carcinogenesis Associate 38117655
Cholangiocarcinoma Associate 38117655
Emphysema Associate 24383474
Glioblastoma Associate 39333557
Glioma Associate 39333557
Inflammation Stimulate 39333557
Neoplasms Associate 35065254
Ovarian Neoplasms Associate 39972314
Parkinson Disease Associate 26510930