FTH1 - ferritin heavy chain 1 Gene

Homo sapiens

Also known as FHC; FTH; HFE5; PLIF; FTHL6; PIG15

Gene ID: 2495 | Gene type: protein coding

About FTH1

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:61,964,285-61,967,634 (from NCBI)

This gene has 12 transcripts (splice variants), 276 orthologues, 3 paralogues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 1259.0), appendix (RPKM 1256.9) and 25 other tissues.

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]

FTH1 Products(1)

mRNA	Protein	Name
NM_002032.3	NP_002023.2	ferritin heavy chain

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ferrous iron binding	IMP IMP: Inferred from mutant phenotype	9003196	GOA
enables ferroxidase activity	IMP IMP: Inferred from mutant phenotype	9003196	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables iron ion sequestering activity	IDA IDA: Inferred from direct assay	9924025	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15607035	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of ferroptosis	IMP IMP: Inferred from mutant phenotype	26403645	GOA
involved in negative regulation of fibroblast proliferation	IDA IDA: Inferred from direct assay	9924025	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in autolysosome	IDA IDA: Inferred from direct assay	25327288	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FTH1 Protein Structure

Ferritin

0
100
183 a.a.

Protein Preferred Names

Protein Names

ferritin heavy chain

apoferritin

FTH1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FTH1	P02794	TSC1	Homo sapiens	Q92574	Anti Tag CoIP	21653829
Intra	FTH1	P02794	TSC1	Homo sapiens	Q92574	Y2H Pooling	21653829
Intra	FTH1	P02794	BAG4	Homo sapiens	O95429	Y2H Prey Pooling	32296183
Intra	FTH1	P02794	BAG4	Homo sapiens	O95429	Y2H Array	32296183
Intra	FTH1	P02794	HSPB1	Homo sapiens	P04792	Reverse RRS	25277244
Intra	FTH1	P02794	HSPB1	Homo sapiens	P04792	Anti Bait CoIP	25277244
Intra	FTH1	P02794	TFRC	Homo sapiens	P02786	Pull Down	20133674
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Bait-Prey Pool	25910212
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Validated Y2H	25416956
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Pooling	16189514
Intra	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Pooling	16189514
Intra	FTH1	P02794	DAXX	Homo sapiens	Q9UER7	Pull Down	21573799
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Anti Tag CoIP	33961781
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Anti Tag CoIP	28514442
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Prey Pooling	25416956
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Array	25910212
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Array	25416956
Intra	FTH1	P02794	FTL	Homo sapiens	P02792	Validated Y2H	25910212
Intra	FTH1	P02794	DAXX	Homo sapiens	Q9UER7	Anti Tag CoIP	21573799
Intra	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Pooling	21653829
Intra	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Array	31515488
Intra	FTH1	P02794	MAX	Homo sapiens	P61244	TAP	20195357
Intra	FTH1	P02794	MAX	Homo sapiens	P61244	Display Tech	20195357
Cross	FTH1	P02794	HBZ	Human T-lymphotropic virus	Q2Q067	Y2H Pooling	22458338
Cross	FTH1	P02794	HBZ	Human T-lymphotropic virus	Q2Q067	MAPPIT	22458338

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant FTH1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70246	Ferritin heavy chain/FTH1 Protein, Human	P02794 (M1-S183)	≥95%

FTH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80670	Ferritin Heavy Chain Antibody	WB, ICC/IF	Human, Mouse, Rat, Hamster

Related Diseases

Diseases

Alias

Hemochromatosis, Type 5

Hemochromatosis Type 5	HFE5
Fth1-Related Iron Overload	Iron Overload, Autosomal Dominant
Fth1-Associated Iron Overload	Hemochromatosis 5
Autosomal Dominant Iron Overload

Siderosis

Pulmonary Siderosis	Deposition Of Iron
Arc-Welders' Disease	Arc-Welders' Lung
Arc-Welders' Nodulation	Arc-Welders' Pneumoconiosis
Iron Oxide Lung	Iron Pneumoconiosis
Pneumoconiosis Siderotico	Siderotic Lung Disease
Steel Grinders' Disease	Welders' Lung
Welders' Siderosis	Lung Fibrosis With Siderosis

Macrophage Activation Syndrome

Immune-Complex Glomerulonephritis

Immune Complex Glomerulonephritis

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome	Hhcs
Hereditary Hyperferritinemia With Congenital Cataracts	Hyperferritinemia, Hereditary, With Congenital Cataracts
Bonneau-Beaumont Syndrome	HRFTC
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract-Hyperferritinemia Syndrome
Hyperferritinemia Cataract Syndrome	Hereditary Hyperferritinemia Cataract Syndrome

Hemochromatosis, Type 3

Hemochromatosis Type 3	HFE3
Hemochromatosis Due To Defect In Transferrin Receptor 2	Tfr2-Related Hemochromatosis
Tfr2-Related Hereditary Hemochromatosis	Hemochromatosis 3

Neurodegeneration With Brain Iron Accumulation 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Restless Legs Syndrome

Wed	Willis-Ekbom Disease
Restless Leg Syndrome	Ekbom Syndrome
Wittmaack-Ekbom Syndrome	Willis Ekbom Disease
Ekbom'S Syndrome	Rls
Restless Legs	Restless Legs Syndrome, Susceptibility To

Beta-Thalassemia

Beta Thalassemia	Cooley'S Anemia
Mediterranean Anemia	Beta Thalassemia Intermedia
Erythroblastic Anemia	Thalassemia, Hispanic Gamma-Delta-Beta
Thalassemia Major	Thalassemia Minor
Beta-Plus-Thalassemia	Thalassemia, Beta
Beta Thalassemia Major	Beta Thalassemia Minor
Thalassemias, Beta-	Microcytemia, Beta Type
Thalassemia, Beta Type	B-THAL
Mediterranean Anaemia	Beta Thalassaemia Syndrome
Mediterranean Disease	Beta Thalassaemia Disease

Atransferrinemia

Familial Hypotransferrinemia	Congenital Atransferrinemia
Hypotransferrinemia, Familial	Congenital Hypotransferrinemia
ATRAF

Spastic Paraplegia 38, Autosomal Dominant

SPG38	Hereditary Spastic Paraplegia 38
Autosomal Dominant Spastic Paraplegia Type 38	Autosomal Dominant Spastic Paraplegia 38

Friedreich Ataxia

Friedreich Ataxia 1	FRDA
Friedreich Ataxia With Retained Reflexes	Frda1
Fa	Friedreich'S Ataxia
Hereditary Spinal Ataxia	Fa1
Friedreich'S Tabes	Hereditary Spinal Sclerosis
Spinocerebellar Ataxia, Friedreich	Friedreich Spinocerebellar Ataxia
Friedrich'S Ataxia

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome	Triple-A Syndrome
Achalasia-Addisonianism-Alacrimia Syndrome	Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder
Triple A Syndrome	Aaa Syndrome
AAAS	Glucocorticoid Deficiency With Achalasia
Glucocorticoid Deficiency And Achalasia	Addisonian-Achalasia Syndrome
Hypoadrenalism With Achalasia	Alacrima-Achalasia-Addisonianism
Aaa	Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima
Achalasia Addisonianism Alacrimia Syndrome	Achalasia Alacrima Syndrome
Addisonian Achalasia Syndrome	Achalasia-Addisonian Syndrome
Achalasia-Alacrima Syndrome	2a Syndrome
3a Syndrome	4a Syndrome
Adrenal Insufficiency-Achalasia-Alacrima Syndrome	Double A Syndrome
Quaternary A Syndrome	Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima
Allgrove'S Syndrome	Adrenal Gland Hypofunction
Adrenal Cortical Hypofunction

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

Hemochromatosis Type 2

Juvenile Hemochromatosis	Juvenile Hereditary Hemochromatosis
Hfe2	Jhh
Hemochromatosis Juvenile	Iron Overload Disease Juvenile
Hemochromatosis, Juvenile	Hemochromatosis, Type 2
Hemochromatosis	Hemochromatosis, Type 1

Necrotizing Gastritis

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148409	MMRi62		99.58%	Unkown
HY-RS05133	FTH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-168894	CT-1	Inducer	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	FTH1	RGD	RGD:2635
Mus musculus	FTH1	MGD	MGI:95588
Bos taurus	FTH1	VGNC	VGNC:56265
Canis familiaris	FTH1	VGNC	VGNC:56089
Felis catus	FTH1	VGNC	VGNC:102892

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