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    MTF1 metal regulatory transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 4520, updated on 27-Nov-2024

    Summary

    Official Symbol
    MTF1provided by HGNC
    Official Full Name
    metal regulatory transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:7428
    See related
    Ensembl:ENSG00000188786 MIM:600172; AllianceGenome:HGNC:7428
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZRF; MTF-1
    Summary
    This gene encodes a transcription factor that induces expression of metallothioneins and other genes involved in metal homeostasis in response to heavy metals such as cadmium, zinc, copper, and silver. The protein is a nucleocytoplasmic shuttling protein that accumulates in the nucleus upon heavy metal exposure and binds to promoters containing a metal-responsive element (MRE). [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in bone marrow (RPKM 7.9), testis (RPKM 4.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See MTF1 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (37809574..37859592, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (37676462..37726477, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (38275246..38325264, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 679 Neighboring gene mannosidase endo-alpha like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 680 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 681 Neighboring gene chromosome 1 open reading frame 122 Neighboring gene yrdC N6-threonylcarbamoyltransferase domain containing Neighboring gene ribosomal protein S2 pseudogene 13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 682 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:38330961-38332160 Neighboring gene inositol polyphosphate-5-phosphatase B Neighboring gene RNA, U6 small nuclear 584, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 777 Neighboring gene uncharacterized LOC124904043

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC23036

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to zinc ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
     
    involved_in response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to metal ion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to oxidative stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    metal regulatory transcription factor 1
    Names
    MRE-binding transcription factor
    MRE-binding transcription factor-1
    metal-responsive transcription factor 1
    transcription factor MTF-1
    zinc regulatory factor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005955.3NP_005946.2  metal regulatory transcription factor 1

      See identical proteins and their annotated locations for NP_005946.2

      Status: REVIEWED

      Source sequence(s)
      AI915521, AL929472, BC014454, X78710
      Consensus CDS
      CCDS30676.1
      UniProtKB/Swiss-Prot
      B2RAK6, Q14872, Q96CB1
      Related
      ENSP00000362127.3, ENST00000373036.5
      Conserved Domains (4) summary
      COG5048
      Location:93291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:234253
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:245271
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:231319
      zf-C2H2_8; C2H2-type zinc ribbon

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      37809574..37859592 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421170.1XP_047277126.1  metal regulatory transcription factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RAK6, Q14872, Q96CB1
    2. XM_011541491.3XP_011539793.1  metal regulatory transcription factor 1 isoform X1

      See identical proteins and their annotated locations for XP_011539793.1

      UniProtKB/Swiss-Prot
      B2RAK6, Q14872, Q96CB1
      Conserved Domains (4) summary
      COG5048
      Location:93291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:234253
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:245271
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:231319
      zf-C2H2_8; C2H2-type zinc ribbon
    3. XM_047421173.1XP_047277129.1  metal regulatory transcription factor 1 isoform X3

    4. XM_011541493.4XP_011539795.1  metal regulatory transcription factor 1 isoform X2

      Conserved Domains (4) summary
      COG5048
      Location:93291
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:234253
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam13465
      Location:245271
      zf-H2C2_2; Zinc-finger double domain
      pfam15909
      Location:231319
      zf-C2H2_8; C2H2-type zinc ribbon

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      37676462..37726477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336697.1XP_054192672.1  metal regulatory transcription factor 1 isoform X1

      UniProtKB/Swiss-Prot
      B2RAK6, Q14872, Q96CB1
    2. XM_054336699.1XP_054192674.1  metal regulatory transcription factor 1 isoform X3

    3. XM_054336698.1XP_054192673.1  metal regulatory transcription factor 1 isoform X2