Gene Gene information from NCBI Gene database.
Entrez ID 2495
Gene name Ferritin heavy chain 1
Gene symbol FTH1
Synonyms (NCBI Gene)
FHCFTHFTHL6HFE5NBIA9PIG15PLIF
Chromosome 11
Chromosome location 11q12.3
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 rat
miRNA miRNA information provided by mirtarbase database.
147
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 factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ATF1 Activation 17565989
ATF1 Repression 17565989
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0004322 Function Ferroxidase activity IEA
GO:0004322 Function Ferroxidase activity IMP 9003196
GO:0005506 Function Iron ion binding TAS 3020541
GO:0005515 Function Protein binding IPI 15607035, 16169070, 16189514, 17355907, 20133674, 20195357, 21516116, 21573799, 21653829, 21988832, 22458338, 25277244, 25327288, 25416956, 25910212, 28514442, 31515488, 32296183, 33961781
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
134770 3976 ENSG00000167996
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 183
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Porphyrin metabolism
Ferroptosis
Necroptosis
Mineral absorption
  Golgi Associated Vesicle Biogenesis
Neutrophil degranulation
Iron uptake and transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hemochromatosis type 5 Pathogenic rs387906549 RCV001823872
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation 9 Pathogenic rs2541427923, rs2541427837 RCV003482890
RCV003482891
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 19531652
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 12220473
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 27804118
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28652739
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 31491006
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 28652739
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 28730787
★☆☆☆☆
Found in Text Mining only
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE Bestrophinopathy CLINVAR_DG 19375515
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Neoplasms Brain neoplasms Pubtator 28837569 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11299801, 22997041, 29455519
★☆☆☆☆
Found in Text Mining only