Gene Gene information from NCBI Gene database.
Entrez ID 114294
Gene name Lactamase beta
Gene symbol LACTB
Synonyms (NCBI Gene)
G24MRPL56
Chromosome 15
Chromosome location 15q22.2
Summary This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic
miRNA miRNA information provided by mirtarbase database.
339
miRTarBase ID miRNA Experiments Reference
MIRT004998 hsa-miR-125b-5p Microarray 17891175
MIRT643855 hsa-miR-125a-3p HITS-CLIP 22927820
MIRT643854 hsa-miR-764 HITS-CLIP 22927820
MIRT643853 hsa-miR-3934-5p HITS-CLIP 22927820
MIRT643852 hsa-miR-1224-3p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 28329758
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608440 16468 ENSG00000103642
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P83111
Protein name Serine beta-lactamase-like protein LACTB, mitochondrial (EC 3.4.-.-)
Protein function Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism (PubMed:28329758). Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (
PDB 7ULW , 7V1Y , 7V1Z , 7V21
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00144 Beta-lactamase 111 253 Beta-lactamase Domain
PF00144 Beta-lactamase 277 538 Beta-lactamase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle. {ECO:0000269|PubMed:11707067}.
Sequence
Sequence length 547
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormality of neuronal migration Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUTROPENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 34937778 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29790671
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28835318, 36088805 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36282364 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38176415 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 36375842 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29899406
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 36088805 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 28835318
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 28835318 Associate
★☆☆☆☆
Found in Text Mining only