FTH1 - ferritin heavy chain 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2495

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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%, as determined by reducing SDS-PAGE.

FTH1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P80670	Ferritin Heavy Chain Antibody (YA443)	WB, ICC/IF	Human, Mouse, Rat, Hamster
HY-P80670A	Ferritin Heavy Chain Antibody (YA443)(PBS only)	WB, ICC/IF	Human, Mouse, Rat, Hamster
HY-P86406	Ferritin Heavy Chain Antibody (YA6098)	WB, IHC-P, ICC/IF, IP, ELISA	Mouse, Rat
HY-P86448	Ferritin heavy chain Antibody (YA6140)	WB, IHC-P, ICC/IF, ELISA	Human, Mouse, Rat

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-167874	ASP-8731	Inhibitor	98.42%	Phase 1

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-148409	MMRi62		99.59%	Unkown
HY-N11849	Moracin N		99.74%	Unkown
HY-RS05133	FTH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174345	Ferroptosis inducer-8		/	Unkown
HY-174867	AY-4	Agonist	/	Unkown
HY-174871	AY-2		/	Unkown
HY-176271	MAO-B-IN-45		/	Unkown
HY-179384	PROTAC FSP1 degrader 1		/	Unkown
HY-184667	β-Lactamase/Ferroptosis-IN-1		/	Unkown
HY-RS16862	Fth1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23303	Fth1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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