FTMT ferritin mitochondrial [Homo sapiens (human)] - Gene

Summary

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: Predicted to enable ferric iron binding activity and ferrous iron binding activity. Involved in several processes, including cellular iron ion homeostasis; positive regulation of aconitate hydratase activity; and positive regulation of succinate dehydrogenase activity. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 5q23.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (121851882..121852833)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (122368749..122369700)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (121187577..121188528)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genetic variation modifies risk for neurodegeneration based on biomarker status. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 intracellular sequestering of iron ion	IBA Inferred from Biological aspect of Ancestor more info
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
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 more info	PubMed

General protein information

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Preferred Names: ferritin, mitochondrial

Names: ferritin H subunit; mitochondrial ferritin

NP_803431.1

EC 1.16.3.1

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)

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