Format

Send to:

Choose Destination

LACTB lactamase beta [ Homo sapiens (human) ]

Gene ID: 114294, updated on 12-Oct-2019

Summary

Official Symbol
LACTBprovided by HGNC
Official Full Name
lactamase betaprovided by HGNC
Primary source
HGNC:HGNC:16468
See related
Ensembl:ENSG00000103642 MIM:608440
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

Genomic context

See LACTB in Genome Data Viewer
Location:
15q22.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (63121806..63142062)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (63413999..63434260)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2160 Neighboring gene uncharacterized LOC107984798 Neighboring gene ribosomal protein S27 like Neighboring gene uncharacterized LOC101928972

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14902

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of lipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion HDA PubMed 
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)

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
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    63121806..63142062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_931745.2 RNA Sequence

  2. XR_429442.2 RNA Sequence

Support Center