MBLAC1
Metallo-Beta-Lactamase Domain Containing 1
Gene Information Card
| Symbol | MBLAC1 |
|---|---|
| Full Name | Metallo-Beta-Lactamase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 2557 ncbi.nlm.nih.gov/gene/2557 |
| Ensembl ID | ENSG00000105928 |
| UniProt ID | Q9H3G5 |
| OMIM ID | 614717 |
| HGNC ID | 24287 |
| Aliases | MGC13170, FLJ22662 |
Description
MBLAC1 (Metallo-Beta-Lactamase Domain Containing 1) is a protein-coding gene located on chromosome 7q22.1. The encoded protein contains a metallo-beta-lactamase domain, which is characteristic of enzymes that hydrolyze beta-lactam antibiotics, though the endogenous function of MBLAC1 in humans is not fully characterized. It is predicted to be involved in metabolic processes and may play a role in cellular signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function variants reported.
Gain of Function (GOF)
No known gain-of-function variants reported.
Dominant Negative (DN)
No known dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • metallo-beta-lactamase activity | • hydrolase activity |
| • zinc ion binding |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The MBLAC1 protein (UniProt Q9H3G5) is a 307-amino acid enzyme with a metallo-beta-lactamase domain. It is predicted to bind zinc ions and catalyze hydrolysis reactions. Its exact biological substrate and function remain under investigation, but it may be involved in nucleotide or carbohydrate metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBLAC1 Knockout HEK293 Cell Line | EDJ-KQ11796 | Human | 255374 | Details Get a Quote |
| MBLAC1 Knockout HeLa Cell Line | EDJ-KQ38953 | Human | 255374 | Details Get a Quote |
| MBLAC1 Knockout A-549 Cell Line | EDJ-KQ40209 | Human | 255374 | Details Get a Quote |
| MBLAC1 Knockout HCT 116 Cell Line | EDJ-KQ40210 | Human | 255374 | Details Get a Quote |
