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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
N-Glycan biosynthesis Intra-Golgi traffic
Various types of N-glycan biosynthesis Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2
Metabolic pathways  
Protein processing in endoplasmic reticulum  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 Reference Evidence Score
MAN1C1-related disorder Likely benign; Benign; Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (15)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 38117655 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 38117655 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Variable Immunodeficiency Common Variable Immunodeficiency GWASDB_DG 21497890
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 30588245
★★★★★
★☆☆☆☆
Found in Text Mining only
Emphysema Emphysema Pubtator 24383474 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 39333557 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 39333557 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 25455875, 30588245
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 39972314 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease Pubtator 26510930 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only