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FTH1 (ferritin heavy chain 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2495
Gene nameGene Name - the full gene name approved by the HGNC.
Ferritin heavy chain 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
FTH1
SynonymsGene synonyms aliases
FHC, FTH, FTHL6, HFE5, NBIA9, PIG15, PLIF
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.3
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
ATF1 Activation 17565989
ATF1 Repression 17565989
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
Sequence length 183
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Porphyrin metabolism
Ferroptosis
Necroptosis
Mineral absorption
  Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Iron uptake and transport
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Bestrophinopathy BESTROPHINOPATHY, AUTOSOMAL RECESSIVE rs281865528, rs121918284, rs121918286, rs121918287, rs121918288, rs61755781, rs200277476, rs199529046, rs281865215, rs372989281, rs765998048, rs62637337, rs886041142, rs775283269, rs753614067, rs1555096248, rs752521456, rs281865225, rs1431752515, rs1554963305, rs1554964287, rs1565392261, rs1591284563 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, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 21385903
Vitelliform macular dystrophy Vitelliform Macular Dystrophy rs28940273, rs28940274, rs28941468, rs121918285, rs28941469, rs28940275, rs121918283, rs28940276, rs1800995, rs28940570, rs28940278, rs281865528, rs121918284, rs267606677, rs61755793, rs121918564, rs61755792, rs61755798, rs121918565, rs121918566, rs61755769, rs61755797, rs61755801, rs61755817, rs281865373, rs61748430, rs281865221, rs281865207, rs200277476, rs199529046, rs281865212, rs281865238, rs281865239, rs281865241, rs281865214, rs281865215, rs281865255, rs1805143, rs281865218, rs199867882, rs672601356, rs713993045, rs713993046, rs367576664, rs713993049, rs786205564, rs763295314, rs766305807, rs886039311, rs886041141, rs281865205, rs1555100476, rs1554963095, rs1555098634, rs1554963058, rs1559642470, rs1565036465, rs1565382549, rs752125512, rs1591266379, rs1225032182, rs1591283811, rs281865262, rs281865263, rs748351421, rs1591280478, rs1591280714, rs1591283793, rs1159966472, rs1591301548, rs867271343, rs1800118693, rs727503824, rs1942169028, rs1591284563, rs1799986608, rs1799988458 24560797, 21467170
Unknown
Disease name Disease term dbSNP ID References
Degenerative diseases, central nervous system Degenerative Diseases, Central Nervous System, Degenerative Diseases, Spinal Cord 15964507
Iron overload Iron Overload, Iron Overload, Autosomal Dominant, FTH1-related iron overload rs1801390, rs1800008, rs1800009, rs147192139, rs148060787, rs149698, rs111326315, rs368356148, rs17854138, rs112199774, rs1801621, rs886048434, rs17156609, rs201120647, rs186448909, rs141071579, rs886048429, rs763318260, rs142482048 11389486
Malignant mesothelioma Malignant mesothelioma 26818092
Melancholia Melancholia 17063146

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