MAN1C1 Gene
Mannosidase Alpha Class 1C Member 1
Gene Information Card
| Symbol | MAN1C1 |
|---|---|
| Full Name | Mannosidase Alpha Class 1C Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 57134 ncbi.nlm.nih.gov/gene/57134 |
| Ensembl ID | ENSG00000117650 |
| UniProt ID | Q9NR34 |
| OMIM ID | 604344 |
| HGNC ID | 6823 |
| Aliases | MAN1C, MAN1A3, MGC26269 |
Description
MAN1C1 encodes a class I alpha-mannosidase localized to the Golgi apparatus. This enzyme catalyzes the removal of alpha-1,2-linked mannose residues from Man9GlcNAc2 to produce Man5GlcNAc2, a critical step in N-glycan maturation. The protein is involved in the early processing of asparagine-linked oligosaccharides and plays a role in glycoprotein biosynthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type II (CDG-II) | Loss-of-function mutations in MAN1C1 impair N-glycan processing, leading to abnormal glycosylation of multiple proteins. | ClinVar, OMIM |
| Colorectal cancer | Altered MAN1C1 expression may affect cell surface glycosylation, influencing tumor progression and metastasis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 9.8 | Medium |
| Testis | 8.2 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma |
| HEK293 | 10.1 | Embryonic kidney |
| HeLa | 6.7 | Cervical adenocarcinoma |
| A549 | 5.3 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Reduced enzymatic activity in vitro |
| c.500_501del (p.Glu167Glyfs*12) | Frameshift | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein or nonsense-mediated decay, impairing mannosidase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571) | • Golgi apparatus (GO:0005794) |
| • protein N-linked glycosylation (GO:0006487) | • membrane (GO:0016020) |
Pathways
• ['N-Glycan biosynthesis (KEGG: hsa00510)']
• ['Protein processing in endoplasmic reticulum (KEGG: hsa04141)']
Protein Summary
MAN1C1 is a 655-amino acid type II transmembrane protein with a single N-terminal transmembrane domain and a C-terminal catalytic domain facing the Golgi lumen. It belongs to glycosyl hydrolase family 47 and requires calcium for activity. The enzyme specifically cleaves alpha-1,2-mannose linkages, converting Man9GlcNAc2 to Man5GlcNAc2 during N-glycan processing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN1C1 Knockout HEK293 Cell Line | EDJ-KQ14189 | Human | 57134 | Details Get a Quote |
| MAN1C1 Knockout HCT 116 Cell Line | EDJ-KQ44132 | Human | 57134 | Details Get a Quote |
| MAN1C1 Knockout HeLa Cell Line | EDJ-KQ56811 | Human | 57134 | Details Get a Quote |
| MAN1C1 Knockout A-549 Cell Line | EDJ-KQ65319 | Human | 57134 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
