Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2495
Gene name Gene Name - the full gene name approved by the HGNC.	Ferritin heavy chain 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	FTH1
Synonyms (NCBI Gene) Gene synonyms aliases	FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HFE5, NBIA9
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 rat

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030032	hsa-miR-26b-5p	Microarray	19088304
MIRT031951	hsa-miR-16-5p	Proteomics	18668040
MIRT050899	hsa-miR-17-5p	CLASH	23622248
MIRT036560	hsa-miR-941	CLASH	23622248
MIRT574177	hsa-miR-6771-3p	PAR-CLIP	20371350
MIRT574175	hsa-miR-548m	PAR-CLIP	20371350
MIRT574176	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT574174	hsa-miR-548ag	PAR-CLIP	20371350
MIRT574173	hsa-miR-548ai	PAR-CLIP	20371350
MIRT574172	hsa-miR-548ba	PAR-CLIP	20371350
MIRT574171	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT574170	hsa-miR-4496	PAR-CLIP	20371350
MIRT518720	hsa-miR-3133	PAR-CLIP	23446348
MIRT518719	hsa-miR-551b-5p	PAR-CLIP	23446348
MIRT518718	hsa-miR-3606-3p	PAR-CLIP	23446348
MIRT518717	hsa-miR-513a-3p	PAR-CLIP	23446348
MIRT518716	hsa-miR-513c-3p	PAR-CLIP	23446348
MIRT518715	hsa-miR-4511	PAR-CLIP	23446348
MIRT518714	hsa-miR-5579-5p	PAR-CLIP	23446348
MIRT518713	hsa-miR-1252-5p	PAR-CLIP	23446348
MIRT518712	hsa-miR-4790-3p	PAR-CLIP	23446348
MIRT518711	hsa-miR-6126	PAR-CLIP	23446348
MIRT518710	hsa-miR-6864-5p	PAR-CLIP	23446348
MIRT574177	hsa-miR-6771-3p	PAR-CLIP	20371350
MIRT574175	hsa-miR-548m	PAR-CLIP	20371350
MIRT574176	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT574174	hsa-miR-548ag	PAR-CLIP	20371350
MIRT574173	hsa-miR-548ai	PAR-CLIP	20371350
MIRT574172	hsa-miR-548ba	PAR-CLIP	20371350
MIRT574171	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT574170	hsa-miR-4496	PAR-CLIP	20371350
MIRT518720	hsa-miR-3133	PAR-CLIP	23446348
MIRT518719	hsa-miR-551b-5p	PAR-CLIP	23446348
MIRT518718	hsa-miR-3606-3p	PAR-CLIP	23446348
MIRT518717	hsa-miR-513a-3p	PAR-CLIP	23446348
MIRT518716	hsa-miR-513c-3p	PAR-CLIP	23446348
MIRT518715	hsa-miR-4511	PAR-CLIP	23446348
MIRT518714	hsa-miR-5579-5p	PAR-CLIP	23446348
MIRT518713	hsa-miR-1252-5p	PAR-CLIP	23446348
MIRT518712	hsa-miR-4790-3p	PAR-CLIP	23446348
MIRT518711	hsa-miR-6126	PAR-CLIP	23446348
MIRT518710	hsa-miR-6864-5p	PAR-CLIP	23446348
MIRT1005644	hsa-miR-1225-5p	CLIP-seq
MIRT1005645	hsa-miR-1252	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005648	hsa-miR-2110	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT1005650	hsa-miR-3675-5p	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT1005653	hsa-miR-4271	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1005656	hsa-miR-4636	CLIP-seq
MIRT1005657	hsa-miR-4725-3p	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT1005645	hsa-miR-1252	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005648	hsa-miR-2110	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT1005650	hsa-miR-3675-5p	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT1005653	hsa-miR-4271	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1998038	hsa-miR-4427	CLIP-seq
MIRT1998039	hsa-miR-4680-3p	CLIP-seq
MIRT1998040	hsa-miR-4691-3p	CLIP-seq
MIRT1005657	hsa-miR-4725-3p	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT2231647	hsa-miR-1228	CLIP-seq
MIRT1005645	hsa-miR-1252	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005648	hsa-miR-2110	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT2231648	hsa-miR-3129-3p	CLIP-seq
MIRT1005650	hsa-miR-3675-5p	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT2231649	hsa-miR-3920	CLIP-seq
MIRT2231650	hsa-miR-3940-3p	CLIP-seq
MIRT1005653	hsa-miR-4271	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1005657	hsa-miR-4725-3p	CLIP-seq
MIRT2231651	hsa-miR-4733-5p	CLIP-seq
MIRT2231652	hsa-miR-4762-3p	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005648	hsa-miR-2110	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT1005650	hsa-miR-3675-5p	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT1005653	hsa-miR-4271	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1005657	hsa-miR-4725-3p	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT1005644	hsa-miR-1225-5p	CLIP-seq
MIRT1005645	hsa-miR-1252	CLIP-seq
MIRT1005646	hsa-miR-1263	CLIP-seq
MIRT1005647	hsa-miR-2052	CLIP-seq
MIRT1005651	hsa-miR-3681	CLIP-seq
MIRT1005652	hsa-miR-3691-5p	CLIP-seq
MIRT1005654	hsa-miR-4307	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT1005658	hsa-miR-4764-5p	CLIP-seq
MIRT2231647	hsa-miR-1228	CLIP-seq
MIRT1998040	hsa-miR-4691-3p	CLIP-seq
MIRT2231647	hsa-miR-1228	CLIP-seq
MIRT1005648	hsa-miR-2110	CLIP-seq
MIRT1005649	hsa-miR-224	CLIP-seq
MIRT2231648	hsa-miR-3129-3p	CLIP-seq
MIRT2535543	hsa-miR-3591-5p	CLIP-seq
MIRT1005650	hsa-miR-3675-5p	CLIP-seq
MIRT2231650	hsa-miR-3940-3p	CLIP-seq
MIRT2535544	hsa-miR-3978	CLIP-seq
MIRT2535545	hsa-miR-4261	CLIP-seq
MIRT1005653	hsa-miR-4271	CLIP-seq
MIRT1005655	hsa-miR-4312	CLIP-seq
MIRT2535546	hsa-miR-4320	CLIP-seq
MIRT2535547	hsa-miR-4494	CLIP-seq
MIRT2535548	hsa-miR-4522	CLIP-seq
MIRT1005656	hsa-miR-4636	CLIP-seq
MIRT2535549	hsa-miR-4724-5p	CLIP-seq
MIRT1005657	hsa-miR-4725-3p	CLIP-seq
MIRT2535550	hsa-miR-4764-3p	CLIP-seq
MIRT2535551	hsa-miR-4782-5p	CLIP-seq
MIRT2535552	hsa-miR-494	CLIP-seq
MIRT2535553	hsa-miR-499a-5p	CLIP-seq
MIRT2535554	hsa-miR-648	CLIP-seq
MIRT2231647	hsa-miR-1228	CLIP-seq
MIRT2231648	hsa-miR-3129-3p	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
ATF1	Activation	17565989
ATF1	Repression	17565989

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004322	Function	Ferroxidase activity	IBA	21873635
GO:0005506	Function	Iron ion binding	TAS	3020541
GO:0005515	Function	Protein binding	IPI	15607035, 16169070, 16189514, 20133674, 20195357, 21516116, 21573799, 21988832, 22458338, 25277244, 25416956, 25910212, 28514442, 31515488, 32296183
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0006826	Process	Iron ion transport	IBA	21873635
GO:0006879	Process	Cellular iron ion homeostasis	TAS
GO:0006880	Process	Intracellular sequestering of iron ion	IBA	21873635
GO:0006880	Process	Intracellular sequestering of iron ion	IDA	9924025
GO:0006955	Process	Immune response	ISS
GO:0008043	Component	Intracellular ferritin complex	TAS	6589621
GO:0008198	Function	Ferrous iron binding	IBA	21873635
GO:0008199	Function	Ferric iron binding	IBA	21873635
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0043312	Process	Neutrophil degranulation	TAS
GO:0044754	Component	Autolysosome	IDA	25327288
GO:0048147	Process	Negative regulation of fibroblast proliferation	IDA	9924025
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
134770	3976	ENSG00000167996

Protein

UniProt ID

P02794

Protein name

Ferritin heavy chain (Ferritin H subunit) (EC 1.16.3.1) (Cell proliferation-inducing gene 15 protein) [Cleaved into: Ferritin heavy chain, N-terminally processed]

Protein function

Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity (PubMed:9003196). Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation (PubMed:9003196). Als

PDB

1FHA , 2CEI , 2CHI , 2CIH , 2CLU , 2CN6 , 2CN7 , 2FHA , 2IU2 , 2Z6M , 3AJO , 3AJP , 3AJQ , 3ERZ , 3ES3 , 4DYX , 4DYY , 4DYZ , 4DZ0 , 4OYN , 4Y08 , 4YKH , 4ZJK , 5CMQ , 5CMR , 5GN8 , 5GOU , 5JKK , 5JKL , 5JKM , 5N26 , 5N27 , 5UP7 , 5UP8 , 5UP9 , 5VTD , 5XB1 , 5YI5 , 5ZND , 6B8F , 6B8G , 6FTV , 6GSR , 6H5I , 6H6T , 6H6U , 6IPC , 6IPO , 6IPP , 6IPQ , 6J4A

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00210	Ferritin	18 → 159	Ferritin-like domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the liver. {ECO:0000269|PubMed:11389486}.

Sequence

MTTASTSQVRQNYHQDSEAAINRQINLELYASYVYLSMSYYFDRDDVALKNFAKYFLHQS
HEEREHAEKLMKLQNQRGGRIFLQDIKKPDCDDWESGLNAMECALHLEKNVNQSLLELHK
LATDKNDPHLCDFIETHYLNEQVKAIKELGDHVTNLRKMGAPESGLAEYLFDKHTLGDSD
NES

Sequence length

183

Interactions

View interactions

	KEGG		Reactome
	Porphyrin metabolism Ferroptosis Necroptosis Mineral absorption		Golgi Associated Vesicle Biogenesis Neutrophil degranulation Iron uptake and transport

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Bestrophinopathy	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE	rs281865528, rs121918284, rs121918286, rs121918287, rs121918288, rs61755781, rs200277476, rs199529046, rs281865215, rs372989281, rs765998048, rs62637337, rs886041142, rs775283269, rs753614067 View all (8 more)	19375515
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Glioma	Glioma, mixed gliomas, Malignant Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499 View all (13 more)	21385903
Vitelliform macular dystrophy	Vitelliform Macular Dystrophy	rs28940273, rs28940274, rs28941468, rs121918285, rs28941469, rs28940275, rs121918283, rs28940276, rs1800995, rs28940570, rs28940278, rs281865528, rs121918284, rs267606677, rs61755793 View all (62 more)	24560797, 21467170

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Iron overload	Iron Overload, Iron Overload, Autosomal Dominant, FTH1-related iron overload	11389486	ClinVar
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic	17063146	ClinVar
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	neurodegeneration with brain iron accumulation 9		GenCC
Dementia	Dementia		GWAS

Show/Hide Text Mining Associations (63)

Disease Name	Relationship Type	References
Associations from Text Mining
Brain Neoplasms	Associate	28837569
Breast Neoplasms	Associate	34551213, 37390841
Calcinosis	Inhibit	19423691
Carcinogenesis	Associate	32476555
Carcinoma Hepatocellular	Associate	24066693, 32476555, 33864445, 37008632, 37248280
Carcinoma Hepatocellular	Stimulate	38393890
Carcinoma Renal Cell	Associate	33864445
Cardiomyopathies	Associate	38025678
Cartilage Diseases	Stimulate	37914703
Colorectal Neoplasms	Associate	37086630
Coronary Disease	Associate	32743916
COVID 19	Associate	36183555
Crohn Disease	Stimulate	40527798
Dementia Vascular	Associate	24448401
Developmental Disabilities	Associate	37660254
Diabetic Nephropathies	Inhibit	37150518
Down Syndrome	Associate	35162984
Drug Related Side Effects and Adverse Reactions	Inhibit	29457657
Epilepsy	Associate	37660254
Esophageal Squamous Cell Carcinoma	Associate	33176591
Fibrosis	Associate	36394951
Glioblastoma	Associate	31491006, 33420375
Glioma	Associate	31491006, 33864445, 36164395
Huntington Disease	Associate	40643497
Hyperferritinemia	Associate	36183555
Idiopathic Noncirrhotic Portal Hypertension	Associate	18838961
Infertility Male	Associate	38012716
Inflammation	Associate	15537542
Intrahepatic Cholestasis of Pregnancy	Inhibit	39789492
Iron Deficiencies	Associate	37867341
Iron Overload	Associate	37914703
Keratoconus	Associate	11683372
Leukemia Erythroblastic Acute	Associate	26739353
Liver Neoplasms	Associate	32476555
Lung Neoplasms	Inhibit	31755376
Lymphatic Metastasis	Stimulate	38025726
Mesothelioma Malignant	Associate	31442913, 31755376
Mitochondrial Diseases	Associate	31491006
Myocardial Infarction	Associate	39261934
Neoplasm Metastasis	Associate	38025726
Neoplasms	Associate	24742827, 28837569, 30274235, 34499029, 37086630, 37390841, 37822991, 38025726, 38281198
Neoplasms	Inhibit	27566559, 33864445, 34551213
Neurodegenerative Diseases	Associate	37660254
Neuroferritinopathy	Associate	37660254
Neurologic Manifestations	Associate	37660254
Obesity	Associate	29459183
Osteoarthritis	Stimulate	37914703
Osteoglophonic dwarfism	Inhibit	38287843
Ovarian Neoplasms	Inhibit	27566559
Pancreatic Neoplasms	Associate	36061308
Pantothenate Kinase Associated Neurodegeneration	Associate	37660254, 39419454
Parkinson Disease	Associate	35162984
Personality Disorders	Associate	27566559
Polycystic Ovary Syndrome	Associate	40057801
Pontocerebellar Hypoplasia	Associate	37660254
Prostatic Hyperplasia	Associate	28730787
Prostatic Neoplasms	Associate	28730787, 36806086, 37894914
Respiratory Sounds	Associate	37353771
Squamous Cell Carcinoma of Head and Neck	Associate	33864445, 34853622, 36012290, 38025726
Stevens Johnson Syndrome	Associate	39897035
Stomach Neoplasms	Associate	38393890
Triple Negative Breast Neoplasms	Associate	24742827, 30102404, 34551213, 37822991
Vitelliform Macular Dystrophy	Associate	9445487

FTH1 (ferritin heavy chain 1)