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Aliases for FTMT Gene

Aliases for FTMT Gene

  • Ferritin Mitochondrial 2 3 5
  • EC 1.16.3.1 4 58
  • Ferritin, Mitochondrial 3
  • Mitochondrial Ferritin 3
  • Ferritin H Subunit 3
  • MTF 3

External Ids for FTMT Gene

Previous GeneCards Identifiers for FTMT Gene

  • GC05P121264
  • GC05P121215
  • GC05P116379
  • GC05P121187

Summaries for FTMT Gene

GeneCards Summary for FTMT Gene

FTMT (Ferritin Mitochondrial) is a Protein Coding gene. Diseases associated with FTMT include Friedreich Ataxia and Restless Legs Syndrome. Among its related pathways are Ferroptosis. GO annotations related to this gene include ferric iron binding and ferroxidase activity. An important paralog of this gene is FTH1.

UniProtKB/Swiss-Prot for FTMT Gene

  • Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.

Gene Wiki entry for FTMT Gene

Additional gene information for FTMT Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FTMT Gene

Genomics for FTMT Gene

Regulatory Elements for FTMT Gene

Enhancers for FTMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05H122332 0.9 ENCODE 14.6 +481.4 481390 1 PKNOX1 FEZF1 RFX5 ZNF366 ZSCAN5C ZNF350 CEBPB OVOL3 REST ZNF488 ENSG00000260686 FTMT RSL24D1P10 SNX2 LOX SRFBP1 ENSG00000249621 ENSG00000249916
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FTMT on UCSC Golden Path with GeneCards custom track

Genomic Location for FTMT Gene

Chromosome:
5
Start:
121,851,955 bp from pter
End:
121,852,833 bp from pter
Size:
879 bases
Orientation:
Plus strand

Genomic View for FTMT Gene

Genes around FTMT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for FTMT Gene

Proteins for FTMT Gene

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

    Protein Symbol:
    Q8N4E7-FTMT_HUMAN
    Recommended name:
    Ferritin, mitochondrial
    Protein Accession:
    Q8N4E7

    Protein attributes for FTMT Gene

    Size:
    242 amino acids
    Molecular mass:
    27538 Da
    Quaternary structure:
    • Homooligomer of 24 subunits. The functional molecule is roughly spherical and contains a central cavity into which the polymeric mineral iron core is deposited.

    Three dimensional structures from OCA and Proteopedia for FTMT Gene

neXtProt entry for FTMT Gene

Selected DME Specific Peptides for FTMT Gene

Q8N4E7:
  • NLELYASY
  • LEKNVNQ
  • LQDIKKP
  • DPHLCDF
  • EQVKSIK

Post-translational modifications for FTMT Gene

No Post-translational modifications

Other Protein References for FTMT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for FTMT Gene

Gene Families for FTMT Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FTMT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N4E7

UniProtKB/Swiss-Prot:

FTMT_HUMAN :
  • Belongs to the ferritin family.
Family:
  • Belongs to the ferritin family.
genes like me logo Genes that share domains with FTMT: view

Function for FTMT Gene

Molecular function for FTMT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
4 Fe(2+) + 4 H(+) + O(2) = 4 Fe(3+) + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation.

Enzyme Numbers (IUBMB) for FTMT Gene

Phenotypes From GWAS Catalog for FTMT Gene

Gene Ontology (GO) - Molecular Function for FTMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity TAS --
GO:0005506 iron ion binding IBA --
GO:0008199 ferric iron binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FTMT: view

Phenotypes for FTMT Gene

MGI mutant phenotypes for FTMT:
inferred from 1 alleles
GenomeRNAi human phenotypes for FTMT:
genes like me logo Genes that share phenotypes with FTMT: view

Animal Models for FTMT Gene

MGI Knock Outs for FTMT:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FTMT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FTMT Gene

Localization for FTMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for FTMT Gene

Mitochondrion.

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 FTMT gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for FTMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IBA --
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with FTMT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FTMT Gene

Pathways & Interactions for FTMT Gene

SuperPathway Contained pathways
1 Ferroptosis
genes like me logo Genes that share pathways with FTMT: view

Pathways by source for FTMT Gene

1 KEGG pathway for FTMT Gene

Interacting Proteins for FTMT Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000313691%0d%0a9606.ENSP00000293883%0d%0a9606.ENSP00000363999%0d%0a9606.ENSP00000309175%0d%0a9606.ENSP00000349957%0d%0a9606.ENSP00000225430%0d%0a
Selected Interacting proteins: ENSP00000313691 Q8N4E7-FTMT_HUMAN for FTMT Gene via STRING IID

Gene Ontology (GO) - Biological Process for FTMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006826 iron ion transport IEA --
GO:0006879 cellular iron ion homeostasis IDA,TAS --
GO:0006880 intracellular sequestering of iron ion IBA --
GO:0008284 positive regulation of cell proliferation IDA 18160053
GO:0051349 positive regulation of lyase activity IDA 18160053
genes like me logo Genes that share ontologies with FTMT: view

No data available for SIGNOR curated interactions for FTMT Gene

Drugs & Compounds for FTMT Gene

(7) Drugs for FTMT Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma 188
Oxygen Approved, Vet_approved Pharma 0
Water Approved Pharma 0

(6) Additional Compounds for FTMT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
Fe3+
  • Fe(III)
  • Ferric ion
  • Iron(3+)
7439-89-6
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with FTMT: view

Transcripts for FTMT Gene

mRNA/cDNA for FTMT Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FTMT Gene

Ferritin mitochondrial:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FTMT
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for FTMT Gene

GeneLoc Exon Structure for
FTMT
ECgene alternative splicing isoforms for
FTMT

Expression for FTMT Gene

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

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

This gene is overexpressed in Testis (x52.6).

Protein differential expression in normal tissues from HIPED for FTMT Gene

This gene is overexpressed in Plasma (30.7), Liver (16.9), and Ovary (14.5).

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



Protein tissue co-expression partners for FTMT Gene

NURSA nuclear receptor signaling pathways regulating expression of FTMT Gene:

FTMT

SOURCE GeneReport for Unigene cluster for FTMT Gene:

Hs.105324

mRNA Expression by UniProt/SwissProt for FTMT Gene:

Q8N4E7-FTMT_HUMAN
Tissue specificity: Detected in testis and erythroleukemia. Expression is very low or not detectable in brain, colon, heart, kidney, liver, lung, muscle, placental, spleen and small intestine.

Evidence on tissue expression from TISSUES for FTMT Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FTMT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FTMT Gene

Orthologs for FTMT Gene

This gene was present in the common ancestor of animals.

Orthologs for FTMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FTMT 33 34
  • 99.04 (n)
cow
(Bos Taurus)
Mammalia FTMT 33 34
  • 84.16 (n)
dog
(Canis familiaris)
Mammalia LOC608550 33
  • 83.68 (n)
-- 34
  • 78 (a)
OneToMany
-- 34
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ftmt 33
  • 79.61 (n)
mouse
(Mus musculus)
Mammalia Ftmt 33 16 34
  • 78.76 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 78 (a)
ManyToMany
-- 34
  • 71 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves FTH 34
  • 77 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 78 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii fth1a 34
  • 71 (a)
ManyToMany
fth1b 34
  • 70 (a)
ManyToMany
zgc:92066 33
  • 67.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Fer3HCH 33
  • 54.12 (n)
Species where no ortholog for FTMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FTMT Gene

ENSEMBL:
Gene Tree for FTMT (if available)
TreeFam:
Gene Tree for FTMT (if available)

Paralogs for FTMT Gene

Paralogs for FTMT Gene

(4) SIMAP similar genes for FTMT Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FTMT Gene

genes like me logo Genes that share paralogs with FTMT: view

Variants for FTMT Gene

Sequence variations from dbSNP and Humsavar for FTMT Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1001153855 -- 121,851,175(+) TACAG(C/G)AGCCT intron-variant, upstream-variant-2KB
rs1001163562 -- 121,850,958(+) ACATA(C/T)TTTGA intron-variant, upstream-variant-2KB
rs1001617936 -- 121,852,373(+) GCGAG(A/G)AGGCC intron-variant, upstream-variant-2KB, reference, missense
rs1003171676 -- 121,851,026(+) CTTTC(C/T)TTTTT intron-variant, upstream-variant-2KB
rs1003506334 -- 121,851,999(+) CACAT(C/T)AGCCC intron-variant, upstream-variant-2KB, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv830469 CNV gain 17160897

Variation tolerance for FTMT Gene

Residual Variation Intolerance Score: 79.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FTMT Gene

Human Gene Mutation Database (HGMD)
FTMT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FTMT

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

Disorders for FTMT Gene

MalaCards: The human disease database

(3) MalaCards diseases for FTMT Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
friedreich ataxia
  • friedreich ataxia with retained reflexes
restless legs syndrome
  • wed
pneumothorax
- elite association - COSMIC cancer census association via MalaCards
Search FTMT in MalaCards View complete list of genes associated with diseases

Relevant External Links for FTMT

Genetic Association Database (GAD)
FTMT
Human Genome Epidemiology (HuGE) Navigator
FTMT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FTMT
genes like me logo Genes that share disorders with FTMT: view

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

Publications for FTMT Gene

  1. A human mitochondrial ferritin encoded by an intronless gene. (PMID: 11323407) Levi S … Drysdale J (The Journal of biological chemistry 2001) 2 3 4 22 60
  2. Crystal structure and biochemical properties of the human mitochondrial ferritin and its mutant Ser144Ala. (PMID: 15201052) Langlois d'Estaintot B … Arosio P (Journal of molecular biology 2004) 3 4 22 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Sequence variations in mitochondrial ferritin: distribution in healthy controls and different types of patients. (PMID: 20939738) Castiglioni E … Arosio P (Genetic testing and molecular biomarkers 2010) 3 45 60
  5. [Expression of mitochondrial ferritin in K562 leukemic cell during ATRA-induced cell differentiation]. (PMID: 20369475) Sun L … Yuan LX (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2010) 3 22 60

Products for FTMT Gene

Sources for FTMT Gene

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