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    MBLAC2 metallo-beta-lactamase domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 153364, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MBLAC2provided by HGNC
    Official Full Name
    metallo-beta-lactamase domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:33711
    See related
    Ensembl:ENSG00000176055 MIM:620907; AllianceGenome:HGNC:33711
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables beta-lactamase activity and long-chain fatty acyl-CoA hydrolase activity. Predicted to be involved in fatty acid metabolic process. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 4.5), ovary (RPKM 4.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See MBLAC2 in Genome Data Viewer
    Location:
    5q14.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (90458209..90474771, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (90944765..90961329, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (89754026..89770588, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22777 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16167 Neighboring gene uncharacterized LOC731157 Neighboring gene centrin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:89820083-89820584 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:89824672-89825172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16168 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22780 Neighboring gene RNA polymerase III subunit G Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:89838485-89839226 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89850082-89850882 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89853234-89853735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16170 Neighboring gene LysM domain containing 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:89900954-89901152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22781 Neighboring gene adhesion G protein-coupled receptor V1 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89940736-89941239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:89963673-89964204 Neighboring gene NANOG hESC enhancer GRCh37_chr5:89968220-89968777 Neighboring gene uncharacterized LOC105379077 Neighboring gene NANOG hESC enhancer GRCh37_chr5:90033573-90034074

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Metallo-β-lactamase domain-containing protein 2 is S-palmitoylated and exhibits acyl-CoA hydrolase activity. Malgapo MIP, et al. J Biol Chem, 2021 Jan-Jun. PMID 33219126, Free PMC Article
    2. Human metallo-β-lactamase enzymes degrade penicillin. Diene SM, et al. Sci Rep, 2019 Aug 21. PMID 31434986, Free PMC Article
    3. Ubiquitin ligase MARCH5 localizes to peroxisomes to regulate pexophagy. Zheng J, et al. J Cell Biol, 2022 Jan 3. PMID 34747980, Free PMC Article
    4. Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family. Li X, et al. Mol Cell Proteomics, 2016 Sep. PMID 27432908, Free PMC Article
    5. MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis. Buschow SI, et al. Immunol Cell Biol, 2010 Nov-Dec. PMID 20458337

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC46734, DKFZp686P15118

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-lactamase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables long-chain fatty acyl-CoA hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in mitochondrion HTP PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    acyl-coenzyme A thioesterase MBLAC2
    Names
    acyl-CoA thioesterase MBLAC2
    beta-lactamase MBLAC2
    metallo-beta-lactamase domain-containing protein 2
    palmitoyl-coenzyme A thioesterase MBLAC2
    NP_981951.2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_203406.2 → NP_981951.2  acyl-coenzyme A thioesterase MBLAC2

      Status: VALIDATED

      Source sequence(s)
      AC093510
      Consensus CDS
      CCDS4067.1
      UniProtKB/Swiss-Prot
      D6RJI1, Q68D91, Q8IY16, Q8N8D8
      Related
      ENSP00000314776.6, ENST00000316610.7
      Conserved Domains (1) summary
      cd07712
      Location:22 → 231
      MBLAC2-like_MBL-fold; uncharacterized human metallo-beta-lactamase domain-containing protein 2 and related proteins; MBL-fold metallo hydrolase domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      90458209..90474771 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      90944765..90961329 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q68D91.3 GenPept UniProtKB/Swiss-Prot:Q68D91

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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