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    MBLAC1 metallo-beta-lactamase domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 255374, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MBLAC1provided by HGNC
    Official Full Name
    metallo-beta-lactamase domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:22180
    See related
    Ensembl:ENSG00000214309 MIM:620906; AllianceGenome:HGNC:22180
    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 RNA endonuclease activity and metal ion binding activity. Involved in histone mRNA metabolic process; mRNA 3'-end processing; and positive regulation of G1/S transition of mitotic cell cycle. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 1.1), kidney (RPKM 1.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MBLAC1 in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100126967..100128495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101366818..101368346)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99724590..99726118)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene minichromosome maintenance complex component 7 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18415 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99698720-99699272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26336 Neighboring gene adaptor related protein complex 4 subunit mu 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99704970-99705470 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:99708249-99708476 Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26337 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99723160-99723829 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26341 Neighboring gene ribosomal protein L7 pseudogene 60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:99745544-99746156 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99746769-99747381 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

    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 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. Biosynthesis of histone messenger RNA employs a specific 3' end endonuclease. Pettinati I, et al. Elife, 2018 Dec 3. PMID 30507380, Free PMC Article
    2. Alterations in the brain interactome of the intrinsically disordered N-terminal domain of the cellular prion protein (PrPC) in Alzheimer's disease. Ulbrich S, et al. PLoS One, 2018. PMID 29791485, Free PMC Article
    3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    4. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512
    5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

    See all (8) 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

    • MGC39819

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA endonuclease activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding 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 histone mRNA metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA 3'-end processing IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of G1/S transition of mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    metallo-beta-lactamase domain-containing protein 1
    Names
    endoribonuclease MBLAC1
    NP_981942.1
    XP_005250307.1
    XP_054213720.1

    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_203397.3 → NP_981942.1  metallo-beta-lactamase domain-containing protein 1

      See identical proteins and their annotated locations for NP_981942.1

      Status: VALIDATED

      Source sequence(s)
      AW449216, AW772344, BC031288, BQ441096
      Consensus CDS
      CCDS43620.1
      UniProtKB/Swiss-Prot
      A4D2B0, Q8N5X8
      Related
      ENSP00000381150.2, ENST00000398075.4
      Conserved Domains (1) summary
      cd07711
      Location:20 → 236
      MBLAC1-like_MBL-fold; uncharacterized human metallo-beta-lactamase domain-containing protein 1 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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      100126967..100128495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250250.4 → XP_005250307.1  metallo-beta-lactamase domain-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005250307.1

      UniProtKB/Swiss-Prot
      A4D2B0, Q8N5X8
      Conserved Domains (1) summary
      cd07711
      Location:20 → 236
      MBLAC1-like_MBL-fold; uncharacterized human metallo-beta-lactamase domain-containing protein 1 and related proteins; MBL-fold metallo hydrolase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      101366818..101368346
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357745.1 → XP_054213720.1  metallo-beta-lactamase domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A4D2B0, Q8N5X8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D2B0.1 GenPept UniProtKB/Swiss-Prot:A4D2B0

    Gene LinkOut

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

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