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    FTMT ferritin mitochondrial [ Homo sapiens (human) ]

    Gene ID: 94033, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FTMTprovided by HGNC
    Official Full Name
    ferritin mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:17345
    See related
    Ensembl:ENSG00000181867 MIM:608847; AllianceGenome:HGNC:17345
    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
    Also known as
    MTF
    Summary
    Enables ferroxidase activity and iron ion binding activity. Involved in several processes, including intracellular iron ion homeostasis; positive regulation of aconitate hydratase activity; and positive regulation of succinate dehydrogenase activity. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Orthologs
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    Genomic context

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    See FTMT in Genome Data Viewer
    Location:
    5q23.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (121851882..121852833)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (122368749..122369700)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (121187577..121188528)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal L24 domain containing 1 pseudogene 10 Neighboring gene uncharacterized LOC105379150 Neighboring gene uncharacterized LOC105379149 Neighboring gene uncharacterized LOC105379148 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:121297323-121297861 Neighboring gene serum response factor binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412305-121412822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:121412823-121413340 Neighboring gene lysyl oxidase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial ferritin expression in erythroid cells from patients with alpha-thalassaemia. Putburee R, et al. Hematology, 2018 Dec. PMID 29993346
    2. Expression and localization of mitochondrial ferritin mRNA in Alzheimer's disease cerebral cortex. Wang L, et al. PLoS One, 2011. PMID 21799823, Free PMC Article
    3. Effects of mitochondrial ferritin overexpression in normal and sideroblastic erythroid progenitors. Invernizzi R, et al. Br J Haematol, 2013 Jun. PMID 23573868
    4. Ferritin contains less iron (59Fe) in cells when the protein pores are unfolded by mutation. Hasan MR, et al. J Biol Chem, 2008 Nov 14. PMID 18805796, Free PMC Article
    5. Detection and functional analysis of an SNP in the promoter of the human ferritin H gene that modulates the gene expression. Faniello MC, et al. Gene, 2006 Aug 1. PMID 16797877

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FtMt reduces oxidative stress-induced trophoblast cell dysfunction via the HIF-1alpha/VEGF signaling pathway.
      Title: FtMt reduces oxidative stress-induced trophoblast cell dysfunction via the HIF-1α/VEGF signaling pathway.
    2. LC3/FtMt Colocalization Patterns Reveal the Progression of FtMt Accumulation in Nigral Neurons of Patients with Progressive Supranuclear Palsy.
      Title: LC3/FtMt Colocalization Patterns Reveal the Progression of FtMt Accumulation in Nigral Neurons of Patients with Progressive Supranuclear Palsy.
    3. Mitochondrial Ferritin Deficiency Promotes Osteoblastic Ferroptosis Via Mitophagy in Type 2 Diabetic Osteoporosis.
      Title: Mitochondrial Ferritin Deficiency Promotes Osteoblastic Ferroptosis Via Mitophagy in Type 2 Diabetic Osteoporosis.
    4. FtMt promotes glioma tumorigenesis and angiogenesis via lncRNA SNHG1/miR-9-5p axis.
      Title: FtMt promotes glioma tumorigenesis and angiogenesis via lncRNA SNHG1/miR-9-5p axis.
    5. Effects of FTMT Expression by Retinal Pigment Epithelial Cells on Features of Angiogenesis.
      Title: Effects of FTMT Expression by Retinal Pigment Epithelial Cells on Features of Angiogenesis.
    6. These results suggest that the elevation of expression levels of FTMT in the reticulocytes of patients with alpha-thalassaemia may be associated with iron loading and oxidative stress.
      Title: Mitochondrial ferritin expression in erythroid cells from patients with alpha-thalassaemia.
    7. Via activation of cAMP/PKA/CREB pathway and upregulation of the downstream FtMt expression.
      Title: Roflumilast enhances cisplatin-sensitivity and reverses cisplatin-resistance of ovarian cancer cells via cAMP/PKA/CREB-FtMt signalling axis.
    8. The expression of FTMT appears regulated by a complex mechanism involving epigenetic events and interplay between transcription factors.
      Title: Characterization of human mitochondrial ferritin promoter: identification of transcription factors and evidences of epigenetic control.
    9. Age-related increase is found in FtMt and hypoxia-inducible factor-1a (HIF-1a) in murine retinal pigment epithelium (RPE).HIF-1alpha stabilization reduced the protein level of the mature, functional form of mitochondrial ferritin.
      Title: Mitochondrial ferritin affects mitochondria by stabilizing HIF-1α in retinal pigment epithelium: implications for the pathophysiology of age-related macular degeneration.
    10. Study characterized a new human FtMt antibody, and with it created the first map of FtMt immunoreactivity in a monkey brainstem. This showed the widespread distribution of FtMt in various brainstem regions and co-localization with catecholaminergic neurons.
      Title: Mapping of mitochondrial ferritin in the brainstem of Macaca fascicularis.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
    EBI GWAS Catalog
    Genetic variation modifies risk for neurodegeneration based on biomarker status.
    EBI GWAS Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ferric iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ferroxidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in iron ion transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of aconitate hydratase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of lyase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of succinate dehydrogenase activity IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    ferritin, mitochondrial
    Names
    ferritin H subunit
    mitochondrial ferritin
    NP_803431.1

    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_177478.2 → NP_803431.1  ferritin, mitochondrial precursor

      See identical proteins and their annotated locations for NP_803431.1

      Status: VALIDATED

      Source sequence(s)
      AC117523, BC034419
      Consensus CDS
      CCDS4128.1
      UniProtKB/Swiss-Prot
      Q8N4E7
      Related
      ENSP00000313691.1, ENST00000321339.3
      Conserved Domains (2) summary
      cd01056
      Location:73 → 233
      Euk_Ferritin; eukaryotic ferritins
      pfam00210
      Location:77 → 218
      Ferritin; Ferritin-like 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      121851882..121852833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      122368749..122369700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4E7.1 GenPept UniProtKB/Swiss-Prot:Q8N4E7

    Gene LinkOut

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

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