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).... See more...

Aliases for MTF1 Gene

Aliases for MTF1 Gene

  • Metal Regulatory Transcription Factor 1 2 3 4 5
  • MRE-Binding Transcription Factor 3 4
  • Transcription Factor MTF-1 3 4
  • Metal-Responsive Transcription Factor 1 3
  • MRE-Binding Transcription Factor-1 3
  • Zinc Regulatory Factor 3
  • MTF-1 3
  • MTF1 5
  • ZRF 3

External Ids for MTF1 Gene

Previous GeneCards Identifiers for MTF1 Gene

  • GC01M038114
  • GC01M037334
  • GC01M037706
  • GC01M9V0006
  • GC01M037948
  • GC01M038047
  • GC01M038275
  • GC01M036393

Summaries for MTF1 Gene

Entrez Gene Summary for MTF1 Gene

  • 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]

GeneCards Summary for MTF1 Gene

MTF1 (Metal Regulatory Transcription Factor 1) is a Protein Coding gene. Diseases associated with MTF1 include Menkes Disease and Atrial Septal Defect 2. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ZNF143.

UniProtKB/Swiss-Prot Summary for MTF1 Gene

  • Zinc-dependent transcriptional regulator of cellular adaption to conditions of exposure to heavy metals (PubMed:8065932). Binds to metal responsive elements (MRE) in promoters and activates the transcription of metallothionein genes like metallothionein-2/MT2A (PubMed:8065932). Also regulates the expression of metalloproteases in response to intracellular zinc and functions as a catabolic regulator of cartilages (By similarity).

Gene Wiki entry for MTF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTF1 Gene

Genomics for MTF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTF1

Top Transcription factor binding sites by QIAGEN in the MTF1 gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • CREB
  • deltaCREB
  • p53

Genomic Locations for MTF1 Gene

Latest Assembly
chr1:37,809,570-37,859,614
(GRCh38/hg38)
Size:
50,045 bases
Orientation:
Minus strand

Previous Assembly
chr1:38,275,246-38,325,264
(GRCh37/hg19 by Entrez Gene)
Size:
50,019 bases
Orientation:
Minus strand

chr1:38,275,239-38,325,292
(GRCh37/hg19 by Ensembl)
Size:
50,054 bases
Orientation:
Minus strand

Genomic View for MTF1 Gene

Genes around MTF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTF1 Gene

Proteins for MTF1 Gene

  • Protein details for MTF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14872-MTF1_HUMAN
    Recommended name:
    Metal regulatory transcription factor 1
    Protein Accession:
    Q14872
    Secondary Accessions:
    • B2RAK6
    • Q96CB1

    Protein attributes for MTF1 Gene

    Size:
    753 amino acids
    Molecular mass:
    80957 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MTF1 Gene

Post-translational modifications for MTF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTF1 Gene

Antibodies for research

  • Abcam antibodies for MTF1

No data available for DME Specific Peptides for MTF1 Gene

Domains & Families for MTF1 Gene

Gene Families for MTF1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for MTF1 Gene

InterPro:
Blocks:
  • C2H2-type zinc finger signature

Suggested Antigen Peptide Sequences for MTF1 Gene

GenScript: Design optimal peptide antigens:
  • Transcription factor MTF-1 (MTF1_HUMAN)
  • Heavy metal-responsive transcription factor (Q9NY38_HUMAN)
genes like me logo Genes that share domains with MTF1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MTF1 Gene

Function for MTF1 Gene

Molecular function for MTF1 Gene

UniProtKB/Swiss-Prot Function:
Zinc-dependent transcriptional regulator of cellular adaption to conditions of exposure to heavy metals (PubMed:8065932). Binds to metal responsive elements (MRE) in promoters and activates the transcription of metallothionein genes like metallothionein-2/MT2A (PubMed:8065932). Also regulates the expression of metalloproteases in response to intracellular zinc and functions as a catabolic regulator of cartilages (By similarity).
GENATLAS Biochemistry:
metal-regulatory transcription factor MTF-1

Phenotypes From GWAS Catalog for MTF1 Gene

Gene Ontology (GO) - Molecular Function for MTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,IDA 9582278
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000987 proximal promoter sequence-specific DNA binding IEA,IDA 15735762
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA,IDA 9582278
GO:0003677 DNA binding TAS 8065932
genes like me logo Genes that share ontologies with MTF1: view
genes like me logo Genes that share phenotypes with MTF1: view

Animal Models for MTF1 Gene

MGI Knock Outs for MTF1:
  • Mtf1 Mtf1<tm1Wsc>
  • Mtf1 Mtf1<tm1b(KOMP)Wtsi>

miRNA for MTF1 Gene

miRTarBase miRNAs that target MTF1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MTF1 Gene

Localization for MTF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTF1 Gene

Nucleus. Cytoplasm. Note=Translocation to the nucleus is induced by metals. {ECO:0000250 UniProtKB:Q07243}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTF1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with MTF1: view

Pathways & Interactions for MTF1 Gene

genes like me logo Genes that share pathways with MTF1: view

SIGNOR curated interactions for MTF1 Gene

Activates:

Gene Ontology (GO) - Biological Process for MTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II TAS,IBA 21873635
GO:0006979 response to oxidative stress IEA --
GO:0007417 central nervous system development IBA 21873635
GO:0010038 response to metal ion TAS --
genes like me logo Genes that share ontologies with MTF1: view

Drugs & Compounds for MTF1 Gene

(11) Drugs for MTF1 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Carrier, binder 276
Silver Approved, Investigational Pharma Target, binder 0
LOR-253 Pharma 0

(4) Additional Compounds for MTF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MTF1: view

Transcripts for MTF1 Gene

mRNA/cDNA for MTF1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTF1

Alternative Splicing Database (ASD) splice patterns (SP) for MTF1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13
SP1: - -
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for MTF1 Gene

GeneLoc Exon Structure for
MTF1

Expression for MTF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MTF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MTF1 Gene

This gene is overexpressed in Whole Blood (x5.1).

Protein differential expression in normal tissues from HIPED for MTF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (58.7) and Placenta (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MTF1 Gene



Protein tissue co-expression partners for MTF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTF1

SOURCE GeneReport for Unigene cluster for MTF1 Gene:

Hs.471991

Evidence on tissue expression from TISSUES for MTF1 Gene

  • Liver(4.4)
  • Muscle(4.3)
  • Nervous system(2.7)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with MTF1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MTF1 Gene

Orthologs for MTF1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MTF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MTF1 29 30
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MTF1 29 30
  • 93.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTF1 29 30
  • 91.83 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtf1 29
  • 91.73 (n)
Mouse
(Mus musculus)
Mammalia Mtf1 29 16 30
  • 91.23 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTF1 30
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTF1 30
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MTF1 29 30
  • 78.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTF1 30
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtf1 29
  • 64.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtf1 29 30
  • 63.07 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.308 29
Fruit Fly
(Drosophila melanogaster)
Insecta MTF-1 30
  • 23 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 64 (a)
OneToOne
Species where no ortholog for MTF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MTF1 Gene

ENSEMBL:
Gene Tree for MTF1 (if available)
TreeFam:
Gene Tree for MTF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MTF1: view image
Alliance of Genome Resources:
Additional Orthologs for MTF1

Paralogs for MTF1 Gene

Variants for MTF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTF1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs116143945 Likely Benign: not provided 37,815,235(-) T/C
NM_005955.3(MTF1):c.2163A>G (p.Leu721=)
SYNONYMOUS
rs140764958 Likely Benign: not provided 37,822,664(-) C/T
NM_005955.3(MTF1):c.1224G>A (p.Pro408=)
SYNONYMOUS
rs373276636 Likely Benign: not provided 37,838,720(-) C/T
NM_005955.3(MTF1):c.684G>A (p.Thr228=)
SYNONYMOUS
rs41267341 Benign: not provided 37,857,470(-) G/T
NM_005955.3(MTF1):c.189C>A (p.Asp63Glu)
MISSENSE
rs552143498 Benign: not provided 37,857,455(-) T/G
NM_005955.3(MTF1):c.204A>C (p.Gly68=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MTF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MTF1 Gene

Variant ID Type Subtype PubMed ID
nsv506927 OTHER sequence alteration 20534489
nsv510 CNV insertion 18451855
nsv945884 CNV duplication 23825009

Variation tolerance for MTF1 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MTF1 Gene

Human Gene Mutation Database (HGMD)
MTF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTF1
Leiden Open Variation Database (LOVD)
MTF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTF1 Gene

Disorders for MTF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MTF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
menkes disease
  • mnk
atrial septal defect 2
  • asd2
epidermodysplasia verruciformis 1
  • epidermodysplasia verruciformis, susceptibility to, 1
autism spectrum disorder
  • asd
- elite association - COSMIC cancer census association via MalaCards
Search MTF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MTF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MTF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MTF1 Gene

Publications for MTF1 Gene

  1. Cloning, chromosomal mapping and characterization of the human metal-regulatory transcription factor MTF-1. (PMID: 8065932) Brugnera E … Schaffner W (Nucleic acids research 1994) 2 3 4 22
  2. Genetic susceptibility to environmental toxicants in ALS. (PMID: 17503480) Morahan JM … Pamphlett R (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 40
  3. Novel associations for hypothyroidism include known autoimmune risk loci. (PMID: 22493691) Eriksson N … Do CB (PloS one 2012) 3 40
  4. Divalent metal-dependent regulation of hepcidin expression by MTF-1. (PMID: 20026331) Balesaria S … Srai SK (FEBS letters 2010) 3 22
  5. Loss of liver-intestine cadherin in human intrahepatic cholangiocarcinoma promotes angiogenesis by up-regulating metal-responsive transcription factor-1 and placental growth factor. (PMID: 19956853) Takamura M … Aoyagi Y (International journal of oncology 2010) 3 22

Products for MTF1 Gene

Sources for MTF1 Gene