• Gene id: 2495

Gene Summary

• Gene Symbol: FTH1   Gene   UCSC   Ensembl
• Aliases: FHC, FTH, FTHL6, HFE5, PIG15, PLIF
• Gene name: ferritin heavy chain 1
• Alternate names: ferritin heavy chain, apoferritin, cell proliferation-inducing gene 15 protein, ferritin H subunit, ferritin, heavy polypeptide 1, placenta immunoregulatory factor, proliferation-inducing protein 15,
• Gene location: 11q12.3 (61967633: 61964284)     Exons: 4     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 134770

Protein Summary

• Protein general information: P02794  
  • 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]
  • Length: 183  
  • Mass: 21226
  • Tissue specificity: Expressed in the liver. {ECO
• Sequence:

  MTTASTSQVRQNYHQDSEAAINRQINLELYASYVYLSMSYYFDRDDVALKNFAKYFLHQSHEEREHAEKLMKLQN
  QRGGRIFLQDIKKPDCDDWESGLNAMECALHLEKNVNQSLLELHKLATDKNDPHLCDFIETHYLNEQVKAIKELG
  DHVTNLRKMGAPESGLAEYLFDKHTLGDSDNES

• Structural information:
  • Protein Domains: (11..16-)
    (/note="Ferritin-like-diiron)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00085"-)
  • Interpro: IPR001519  IPR012347  IPR009040  IPR009078  IPR014034   IPR008331  
  • Prosite: PS00540 PS00204 PS50905
  • 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 6J7G 6KE2 6KE4
  • PDBsum: 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 6J7G 6KE2 6KE4
  • DIP: 38301
  • STRING: ENSP00000273550
• Other Databases: GeneCards:  FTH1  Malacards:  FTH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006880	intracellular sequestering of iron ion	IBA	biological process
GO:0008198	ferrous iron binding	IBA	molecular function
GO:0004322	ferroxidase activity	IBA	molecular function
GO:0005506	iron ion binding	IBA	molecular function
GO:0006826	iron ion transport	IBA	biological process
GO:0008199	ferric iron binding	IBA	molecular function
GO:0006826	iron ion transport	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0008199	ferric iron binding	IEA	molecular function
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005506	iron ion binding	TAS	molecular function
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0008043	intracellular ferritin complex	TAS	cellular component
GO:0004322	ferroxidase activity	IEA	molecular function
GO:0044754	autolysosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:1904813	ficolin-1-rich granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006879	cellular iron ion homeostasis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006826	iron ion transport	IEA	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0006880	intracellular sequestering of iron ion	IDA	biological process
GO:0048147	negative regulation of fibroblast proliferation	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:0006955	immune response	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005634	nucleus	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04217	Necroptosis
hsa04978	Mineral absorption
hsa04216	Ferroptosis

Diseases

Associated diseases	References
Hemochromatosis	KEGG:H00211
Hemochromatosis	KEGG:H00211
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881