MANBAL (Mannosidase Beta Like)
A lysosomal enzyme-like protein with potential roles in glycoprotein degradation and cellular homeostasis.
Gene Information Card
| Symbol | MANBAL |
|---|---|
| Full Name | Mannosidase Beta Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q11.23 |
| NCBI Gene ID | 221294 ncbi.nlm.nih.gov/gene/221294 |
| Ensembl ID | ENSG00000125870 |
| UniProt ID | Q9NQ90 |
| OMIM ID | 618769 |
| HGNC ID | 26427 |
| Aliases | FLJ22662, MGC13170, bA364O22.1 |
Description
MANBAL (Mannosidase Beta Like) is a protein-coding gene located on chromosome 20q11.23. The encoded protein is predicted to be a lysosomal beta-mannosidase-like enzyme, potentially involved in the degradation of N-linked glycoproteins. Its exact physiological function remains under investigation, but it is thought to contribute to lysosomal catabolism and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal storage disorder (suspected) | Impaired glycoprotein degradation due to MANBAL deficiency | Predicted based on homology; limited direct evidence |
| Cancer (various) | Altered expression may affect tumor microenvironment | COSMIC somatic mutation data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 5.2 | Medium |
| Kidney | 4.8 | Medium |
| Testis | 3.9 | Low |
| Brain | 2.1 | Low |
| Lung | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 6.1 | Hepatocellular carcinoma cell line |
| HEK293 | 4.3 | Embryonic kidney cells |
| K562 | 2.8 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437C>T (p.Pro146Leu) | Missense | <0.01% | Unknown functional impact |
| c.1024G>A (p.Val342Ile) | Missense | <0.01% | Predicted benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • lysosome | • beta-mannosidase activity |
| • carbohydrate metabolic process | • glycoprotein catabolic process |
Pathways
• Lysosome (KEGG: hsa04142)
• Glycosphingolipid biosynthesis - globo series (Reactome)
Protein Summary
MANBAL encodes a 456-amino acid protein with a predicted signal peptide and a mannosidase-like domain. It localizes to the lysosome and is thought to participate in the breakdown of mannose-containing glycans. Structural homology suggests it may function as a beta-mannosidase, but enzymatic activity has not been biochemically confirmed.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MANBAL Knockout HEK293 Cell Line | EDJ-KQ14190 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout HCT 116 Cell Line | EDJ-KQ42918 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout A-549 Cell Line | EDJ-KQ44133 | Human | 63905 | Details Get a Quote |
| MANBAL Knockout HeLa Cell Line | EDJ-KQ44134 | Human | 63905 | Details Get a Quote |
