MBLAC1
Metallo-beta-lactamase domain-containing protein 1
Also known as: MBLC1_HUMAN, MGC49416
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A4D2B0
- Gene
- MBLAC1
- Ensembl
- ENSG00000214309
- Chromosome
- 7
- Canonical length
- 266 aa
- Protein class
- Predicted intracellular proteins
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Enables RNA endonuclease activity and metal ion binding activity. Involved in histone mRNA metabolic process; mRNA 3'-end processing; and positive regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
266 residues, UniProt reviewed canonical sequence.
>A4D2B0|MBLAC1
1 MRTEPLCGAS PLLVPGDPYS VVVLLQGYAE PEGVGDAVRA DGSVTLVLPQ TRGPASSHRE
61 SPRGSGGAEA ALEEAARGPI LVDTGGPWAR EALLGALAGQ GVAPGDVTLV VGTHGHSDHI
121 GNLGLFPGAA LLVSHDFCLP GGRYLPHGLG EGQPLRLGPG LEVWATPGHG GQRDVSVVVA
181 GTALGTVVVA GDVFERDGDE DSWQALSEDP AAQERSRKRV LVVADVVVPG HGPPFRVLRE
241 ASQPETEGGG NSQQEPVVGD EEPALHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MBLAC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.32
- Highest tissue expression
- 8.6 nTPM
Expression across tissuesHPA
Tissue
- cerebellum: 8.6 nTPM
- cerebral cortex: 8 nTPM
- basal ganglia: 5.5 nTPM
- amygdala: 5.4 nTPM
- hippocampal formation: 5.3 nTPM
- prostate: 4.7 nTPM
Single-cell type
- esophageal apical cells: 32 nCPM
- cardiomyocytes: 24 nCPM
- epididymal efferent duct absorptive cells: 13 nCPM
- gastric chief cells: 7.6 nCPM
- myosatellite cells: 7.2 nCPM
- breast lactating cells: 7.1 nCPM
Immune cell
- naive B-cell: 0.9 nTPM
- neutrophil: 0.9 nTPM
- eosinophil: 0.7 nTPM
- naive CD4 T-cell: 0.7 nTPM
- naive CD8 T-cell: 0.7 nTPM
- memory CD8 T-cell: 0.6 nTPM
Brain region
- cerebral cortex: 17 nTPM
- cerebellum: 17 nTPM
- basal ganglia: 12 nTPM
- white matter: 12 nTPM
- hippocampal formation: 10 nTPM
- pons: 9.9 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MBLAC1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 37 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.49
- gnomAD pLI
- 0.21
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- -0.25
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- histone mRNA metabolic process
- mRNA 3'-end processing
- positive regulation of G1/S transition of mitotic cell cycle
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Metallo-beta-lactamase
- Ribonuclease Z/Hydroxyacylglutathione hydrolase-like
- Metallo-beta-lactamase superfamily
- Metallo-beta-lactamase domain-containing protein 1
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MBLAC1 as an antibody target. Whether an autoantibody or antibody against MBLAC1 could matter depends on whether native MBLAC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MBLAC1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label MBLAC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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