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    LACTB lactamase beta [ Homo sapiens (human) ]

    Gene ID: 114294, updated on 9-Dec-2024

    Summary

    Official Symbol
    LACTBprovided by HGNC
    Official Full Name
    lactamase betaprovided by HGNC
    Primary source
    HGNC:HGNC:16468
    See related
    Ensembl:ENSG00000103642 MIM:608440; AllianceGenome:HGNC:16468
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G24; MRPL56
    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 function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]
    Expression
    Ubiquitous expression in bone marrow (RPKM 9.0), adrenal (RPKM 7.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See LACTB in Genome Data Viewer
    Location:
    15q22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (63121861..63142061)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (60926721..60946916)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63414060..63434260)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6507 Neighboring gene TPM1 antisense RNA Neighboring gene tropomyosin 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:63370949-63371626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:63371627-63372302 Neighboring gene VISTA enhancer hs2160 Neighboring gene Sharpr-MPRA regulatory region 14461 Neighboring gene uncharacterized LOC107984798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6510 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:63448416-63449615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6511 Neighboring gene ribosomal protein S27 like Neighboring gene uncharacterized LOC101928972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6512

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ14902

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of lipid metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    serine beta-lactamase-like protein LACTB, mitochondrial
    Names
    mitochondrial 39S ribosomal protein L56
    serine beta-lactamase-like protein, mitochondrial

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_050565.1 RefSeqGene

      Range
      5062..25262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288585.2NP_001275514.1  serine beta-lactamase-like protein LACTB, mitochondrial isoform c precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains multiple differences in the 3' coding region and 3' UTR, compared to variant 1, one of which results in a frameshift. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
      Source sequence(s)
      AA186367, AC087612, AK027808, BC037198
      UniProtKB/Swiss-Prot
      P83111
      Conserved Domains (1) summary
      pfam00144
      Location:112223
      Beta-lactamase; Beta-lactamase
    2. NM_032857.5NP_116246.2  serine beta-lactamase-like protein LACTB, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_116246.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      BC067288
      Consensus CDS
      CCDS10182.1
      UniProtKB/Swiss-Prot
      P83096, P83111
      Related
      ENSP00000261893.4, ENST00000261893.9
      Conserved Domains (1) summary
      pfam00144
      Location:112524
      Beta-lactamase; Beta-lactamase
    3. NM_171846.4NP_741982.1  serine beta-lactamase-like protein LACTB, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_741982.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a 3' coding exon and its 3' terminal exon extends past a splice site that it used in variant 1, resulting in a distinct 3' UTR. The encoded isoform (b) has a shorter C-terminus than isoform a.
      Source sequence(s)
      AA186367, AC087612, AK027808, AY358709, BC037198
      Consensus CDS
      CCDS45275.1
      UniProtKB/Swiss-Prot
      P83111
      Related
      ENSP00000392956.2, ENST00000413507.3
      Conserved Domains (1) summary
      pfam00144
      Location:112356
      Beta-lactamase; Beta-lactamase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      63121861..63142061
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047432128.1XP_047288084.1  serine beta-lactamase-like protein LACTB, mitochondrial isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      60926721..60946916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377234.1XP_054233209.1  serine beta-lactamase-like protein LACTB, mitochondrial isoform X1