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

Gene ID: 255374, updated on 5-Oct-2022

Summary

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

See MBLAC1 in Genome Data Viewer
Location:
7q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (100126967..100128495)
110 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 adaptor related protein complex 4 subunit mu 1 Neighboring gene TATA-box binding protein associated factor 6 Neighboring gene canopy FGF signaling regulator 4 Neighboring gene ribosomal protein L7 pseudogene 60 Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC39819

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables endoribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IDA
Inferred from Direct Assay
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

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

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_203397.3NP_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:20236
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_005250250.4XP_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:20236
    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)