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

Gene ID: 255374, updated on 5-Mar-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 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
Predicted to enable hydrolase activity and metal ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in brain (RPKM 1.1), kidney (RPKM 1.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100126967..100128495)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101366818..101368346)
105.20220307 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
  • 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 
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_2023_10

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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