MAN1A1
Mannosidase Alpha Class 1A Member 1
Gene Information Card
| Symbol | MAN1A1 |
|---|---|
| Full Name | Mannosidase Alpha Class 1A Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 4121 ncbi.nlm.nih.gov/gene/4121 |
| Ensembl ID | ENSG00000111885 |
| UniProt ID | P33908 |
| OMIM ID | 604344 |
| HGNC ID | 6821 |
| Aliases | MAN1A1, MAN9AP, GOLIMAN, HUMM9, MAN1A1_HUMAN |
Description
MAN1A1 encodes a class I alpha-mannosidase localized to the Golgi apparatus and endoplasmic reticulum. It catalyzes the removal of alpha-1,2-linked mannose residues from Man9GlcNAc2 to produce Man5GlcNAc2, a critical step in N-glycan maturation and quality control of glycoproteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) | Deficient MAN1A1 activity impairs N-glycan trimming, leading to abnormal glycoprotein folding and ER stress. | ClinVar: pathogenic variants reported |
| Non-small cell lung cancer | Altered MAN1A1 expression may affect tumor cell surface glycosylation and immune evasion. | COSMIC: somatic mutations observed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 4.1 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 6.2 | Lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to truncated, non-functional enzyme; associated with CDG.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • alpha-mannosidase activity | • mannose trimming |
| • ER to Golgi vesicle-mediated transport | • protein N-linked glycosylation |
| • Golgi apparatus | • endoplasmic reticulum |
Pathways
• N-glycan biosynthesis (KEGG: hsa00510)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
MAN1A1 is a 73 kDa type II transmembrane protein with a luminal catalytic domain. It removes specific alpha-1,2-mannose residues from high-mannose oligosaccharides, enabling further processing by Golgi mannosidases. The enzyme is essential for proper glycoprotein folding and trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAN1A1 Knockout HEK293 Cell Line | EDJ-KQ5174 | Human | 4121 | Details Get a Quote |
| MAN1A1 Knockout HCT 116 Cell Line | EDJ-KQ28158 | Human | 4121 | Details Get a Quote |
| MAN1A1 Knockout HeLa Cell Line | EDJ-KQ28159 | Human | 4121 | Details Get a Quote |
| MAN1A1 Knockout A-549 Cell Line | EDJ-KQ62323 | Human | 4121 | Details Get a Quote |
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