FTH1 - ferritin heavy chain 1 Gene

中文名称：铁蛋白重链 1

种属: Homo sapiens

同用名: FHC; FTH; HFE5; PLIF; FTHL6; PIG15

基因 ID: 2495 | 基因类型: protein coding

关于 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.

功能概要

该基因编码铁蛋白的重亚基，铁蛋白是原核生物和真核生物中主要的细胞内铁储存蛋白。它由铁蛋白重链和轻链的 24 个亚基组成。铁蛋白亚基组成的变化可能影响不同组织中铁的摄取和释放速率。铁蛋白的主要功能是以可溶和无毒状态储存铁。铁蛋白的缺陷与多种神经退行性疾病有关。这个基因有多个假基因。已观察到几种选择性剪接的转录本变体，但尚未确定其生物学有效性。[RefSeq 提供，2008 年 7 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ferrous iron binding	IMP IMP: 通过突变表型推断	9003196	GOA
enables ferroxidase activity	IMP IMP: 通过突变表型推断	9003196	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA
enables iron ion sequestering activity	IDA IDA: 通过直接分析推断	9924025	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15607035	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of ferroptosis	IMP IMP: 通过突变表型推断	26403645	GOA
involved in negative regulation of fibroblast proliferation	IDA IDA: 通过直接分析推断	9924025	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in autolysosome	IDA IDA: 通过直接分析推断	25327288	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FTH1 蛋白结构

Ferritin

0
100
183 a.a.

蛋白主名

其他名称

ferritin heavy chain

apoferritin

FTH1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	FTH1	P02794	TSC1	Homo sapiens	Q92574	Anti Tag CoIP	21653829
种属内	FTH1	P02794	TSC1	Homo sapiens	Q92574	Y2H Pooling	21653829
种属内	FTH1	P02794	BAG4	Homo sapiens	O95429	Y2H Prey Pooling	32296183
种属内	FTH1	P02794	BAG4	Homo sapiens	O95429	Y2H Array	32296183
种属内	FTH1	P02794	HSPB1	Homo sapiens	P04792	Reverse RRS	25277244
种属内	FTH1	P02794	HSPB1	Homo sapiens	P04792	Anti Bait CoIP	25277244
种属内	FTH1	P02794	TFRC	Homo sapiens	P02786	Pull Down	20133674
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Bait-Prey Pool	25910212
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Validated Y2H	25416956
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Pooling	16189514
种属内	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Pooling	16189514
种属内	FTH1	P02794	DAXX	Homo sapiens	Q9UER7	Pull Down	21573799
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Anti Tag CoIP	33961781
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Anti Tag CoIP	28514442
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Prey Pooling	25416956
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Array	25910212
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Y2H Array	25416956
种属内	FTH1	P02794	FTL	Homo sapiens	P02792	Validated Y2H	25910212
种属内	FTH1	P02794	DAXX	Homo sapiens	Q9UER7	Anti Tag CoIP	21573799
种属内	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Pooling	21653829
种属内	FTH1	P02794	FXR2	Homo sapiens	P51116	Y2H Array	31515488
种属内	FTH1	P02794	MAX	Homo sapiens	P61244	TAP	20195357
种属内	FTH1	P02794	MAX	Homo sapiens	P61244	Display Tech	20195357
种属间	FTH1	P02794	HBZ	Human T-lymphotropic virus	Q2Q067	Y2H Pooling	22458338
种属间	FTH1	P02794	HBZ	Human T-lymphotropic virus	Q2Q067	MAPPIT	22458338

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 FTH1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70246	Ferritin heavy chain/FTH1 Protein, Human	P02794 (M1-S183)	≥95%

FTH1 抗体

目录号	产品名	应用	反应物种
HY-P80670	Ferritin Heavy Chain Antibody	WB, ICC/IF	Human, Mouse, Rat, Hamster

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-148409	MMRi62		99.58%	否
HY-RS05133	FTH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-168894	CT-1	Inducer	/	否

直系同源

种属	基因名	来源	基因 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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