FTH1 ferritin heavy chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FTH1provided by HGNC
Official Full Name: ferritin heavy chain 1provided by HGNC
Primary source: HGNC:HGNC:3976
See related: Ensembl:ENSG00000167996 MIM:134770; AllianceGenome:HGNC:3976
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: FHC; FTH; HFE5; PLIF; FTHL6; NBIA9; PIG15
Summary: This gene encodes the heavy subunit of ferritin, the major intracellular iron storage protein in prokaryotes and eukaryotes. It is composed of 24 subunits of the heavy and light ferritin chains. Variation in ferritin subunit composition may affect the rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in ferritin proteins are associated with several neurodegenerative diseases. This gene has multiple pseudogenes. Several alternatively spliced transcript variants have been observed, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in colon (RPKM 1259.0), appendix (RPKM 1256.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61964285..61967634, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61953110..61956459, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61731757..61735106, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FTH1 protects against osteoarthritis by MAPK pathway inhibition of extracellular matrix degradation.
Title: FTH1 protects against osteoarthritis by MAPK pathway inhibition of extracellular matrix degradation.
M[7]G modification of FTH1 and pri-miR-26a regulates ferroptosis and chemotherapy resistance in osteosarcoma.
Title: M(7)G modification of FTH1 and pri-miR-26a regulates ferroptosis and chemotherapy resistance in osteosarcoma.
Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
Title: Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
FTH1 indicates poor prognosis and promotes metastasis in head and neck squamous cell carcinoma.
Title: FTH1 indicates poor prognosis and promotes metastasis in head and neck squamous cell carcinoma.
AKT1 participates in ferroptosis vulnerability by driving autophagic degradation of FTH1 in cisplatin-resistant ovarian cancer.
Title: AKT1 participates in ferroptosis vulnerability by driving autophagic degradation of FTH1 in cisplatin-resistant ovarian cancer.
NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells.
Title: NSUN5-FTH1 Axis Inhibits Ferroptosis to Promote the Growth of Gastric Cancer Cells.
LncRNA CACNA1G-AS1 up-regulates FTH1 to inhibit ferroptosis and promote malignant phenotypes in ovarian cancer cells.
Title: LncRNA CACNA1G-AS1 up-regulates FTH1 to inhibit ferroptosis and promote malignant phenotypes in ovarian cancer cells.
RSL1D1 knockdown induces ferroptosis and mediates ferrous iron accumulation in senescent cells by inhibiting FTH1 mRNA stability.
Title: RSL1D1 knockdown induces ferroptosis and mediates ferrous iron accumulation in senescent cells by inhibiting FTH1 mRNA stability.
WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism.
Title: WDR45 mutation dysregulates iron homeostasis by promoting the chaperone-mediated autophagic degradation of ferritin heavy chain in an ER stress/p38 dependent mechanism.
Ferritin Heavy Chain Binds Peroxiredoxin 6 and Inhibits Cell Proliferation and Migration.
Title: Ferritin Heavy Chain Binds Peroxiredoxin 6 and Inhibits Cell Proliferation and Migration.

Submit: New GeneRIF Correction See all GeneRIFs (126)

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

Associated conditions

Description	Tests
Hemochromatosis type 5 MedGen: C1851316 OMIM: 615517 GeneReviews: Not available	Compare labs
Neurodegeneration with brain iron accumulation 9 MedGen: CN375952 OMIM: 620669 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 upregulates the expression of ferritin heavy chain in astrocytes	PubMed
Nef	nef	Nef-mediated activation of NF-kappaB in macrophages induces secretion of the acute-phase protein ferritin, which is necessary and sufficient for Nef-dependent B cell changes	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of ferritin, heavy polypeptide 1 (FTH1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S3983 (e-PCR)
- UniSTS:17680

STS-L20941 (e-PCR)
- UniSTS:21529

D1S2060E (e-PCR)
- UniSTS:151601

GDB:197842 (e-PCR)
- UniSTS:155961

RH94224 (e-PCR)
- UniSTS:88394

RH94403 (e-PCR)
- UniSTS:119651

G65764 (e-PCR)
- UniSTS:225896

D1S2077E (e-PCR)
- UniSTS:151716

MARC_4179-4180:991938416:1 (e-PCR)
- UniSTS:231076

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 ferrous iron binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables ferroxidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables iron ion binding	TAS Traceable Author Statement more info	PubMed
enables iron ion sequestering activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular iron ion homeostasis	TAS Traceable Author Statement more info	PubMed
involved_in intracellular sequestering of iron ion	IBA Inferred from Biological aspect of Ancestor more info
involved_in iron ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fibroblast proliferation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in autolysosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
part_of intracellular ferritin complex	TAS Traceable Author Statement more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ferritin heavy chain

Names: H-ferritin; apoferritin; cell proliferation-inducing gene 15 protein; ferritin H subunit; ferritin, heavy polypeptide 1; placenta immunoregulatory factor; proliferation-inducing protein 15

NP_002023.2

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.