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

Gene ID: 153364, updated on 11-Apr-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 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 palmitoyl-CoA hydrolase activity. Located in endoplasmic reticulum membrane and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
5q14.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (90458209..90474771, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (90944765..90961329, complement)
105.20220307 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 (14) 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)

Genotypes

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 biological_process ND
No biological Data available
more info
  
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 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_2023_10

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

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