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Protein

Ferritin heavy chain

Gene

FTH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity).By similarity

Catalytic activityi

4 Fe2+ + 4 H+ + O2 = 4 Fe3+ + 2 H2O.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi28Iron 11
Metal bindingi63Iron 11
Metal bindingi63Iron 21
Metal bindingi66Iron 11
Metal bindingi108Iron 21
Metal bindingi142Iron 21

GO - Molecular functioni

  • ferric iron binding Source: InterPro
  • ferroxidase activity Source: UniProtKB-EC
  • iron ion binding Source: ProtInc

GO - Biological processi

  • cellular iron ion homeostasis Source: ProtInc
  • immune response Source: UniProtKB
  • intracellular sequestering of iron ion Source: UniProtKB
  • iron ion import Source: Ensembl
  • negative regulation of cell proliferation Source: UniProtKB
  • negative regulation of fibroblast proliferation Source: UniProtKB
  • neutrophil degranulation Source: Reactome

Keywordsi

Molecular functionOxidoreductase
Biological processIron storage
LigandIron, Metal-binding

Enzyme and pathway databases

BRENDAi1.16.3.1 2681
ReactomeiR-HSA-3000480 Scavenging by Class A Receptors
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-6798695 Neutrophil degranulation
R-HSA-917937 Iron uptake and transport
SIGNORiP02794

Names & Taxonomyi

Protein namesi
Recommended name:
Ferritin heavy chain (EC:1.16.3.1)
Short name:
Ferritin H subunit
Alternative name(s):
Cell proliferation-inducing gene 15 protein
Cleaved into the following chain:
Gene namesi
Name:FTH1
Synonyms:FTH, FTHL6
ORF Names:OK/SW-cl.84, PIG15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000167996.15
HGNCiHGNC:3976 FTH1
MIMi134770 gene
neXtProtiNX_P02794

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Hemochromatosis 5 (HFE5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. In a Japanese family affected by HFE5, a single point mutation has been detected in the iron-responsive element (IRE) in the 5'-UTR of FTH1 mRNA. This mutation leads to an increased binding affinity for iron regulatory protein and thereby to the efficient suppression of mRNA translation.
Disease descriptionA disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
See also OMIM:615517

Organism-specific databases

DisGeNETi2495
MalaCardsiFTH1
MIMi615517 phenotype
OpenTargetsiENSG00000167996
Orphaneti247790 FTH1-related iron overload
PharmGKBiPA28392

Chemistry databases

DrugBankiDB09147 Ferric pyrophosphate
DB09412 Gallium citrate Ga-67
DB00893 Iron Dextran

Polymorphism and mutation databases

BioMutaiFTH1
DMDMi120516

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002010481 – 183Ferritin heavy chainAdd BLAST183
Initiator methionineiRemoved; alternateCombined sources
ChainiPRO_00004244722 – 183Ferritin heavy chain, N-terminally processedAdd BLAST182

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei2N-acetylthreonine; in Ferritin heavy chain, N-terminally processedCombined sources1
Modified residuei179PhosphoserineCombined sources1
Modified residuei183PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP02794
MaxQBiP02794
PaxDbiP02794
PeptideAtlasiP02794
PRIDEiP02794
TopDownProteomicsiP02794

2D gel databases

UCD-2DPAGEiP02794

PTM databases

iPTMnetiP02794
PhosphoSitePlusiP02794
SwissPalmiP02794

Expressioni

Tissue specificityi

Expressed in the liver.1 Publication

Gene expression databases

BgeeiENSG00000167996
CleanExiHS_FTH1
ExpressionAtlasiP02794 baseline and differential
GenevisibleiP02794 HS

Organism-specific databases

HPAiCAB008623

Interactioni

Subunit structurei

Oligomer of 24 subunits. There are two types of subunits: L (light) chain and H (heavy) chain. The major chain can be light or heavy, depending on the species and tissue type. In the human liver, the heavy chain is predominant. The functional molecule forms a roughly spherical shell with a diameter of 12 nm and contains a central cavity into which the insoluble mineral iron core is deposited.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi108773, 109 interactors
CORUMiP02794
DIPiDIP-38301N
IntActiP02794, 40 interactors
MINTiP02794
STRINGi9606.ENSP00000273550

Structurei

Secondary structure

1183
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi15 – 42Combined sources28
Turni45 – 47Combined sources3
Helixi50 – 77Combined sources28
Helixi97 – 124Combined sources28
Helixi128 – 137Combined sources10
Helixi139 – 159Combined sources21
Turni160 – 163Combined sources4
Helixi165 – 174Combined sources10
Beta strandi176 – 178Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FHAX-ray2.40A1-183[»]
2CEIX-ray1.80A2-183[»]
2CHIX-ray1.60A2-183[»]
2CIHX-ray1.50A2-183[»]
2CLUX-ray2.10A2-183[»]
2CN6X-ray2.20A2-183[»]
2CN7X-ray1.75A2-183[»]
2FHAX-ray1.90A1-183[»]
2IU2X-ray1.80A2-183[»]
2Z6MX-ray2.72A/B/C/D/E/F/G/H/I/J/K/L2-177[»]
3AJOX-ray1.52A2-183[»]
3AJPX-ray1.90A2-183[»]
3AJQX-ray1.58A2-183[»]
3ERZX-ray3.06A/B/C/D/E/F/G/H/I/J/K/L1-183[»]
3ES3X-ray2.79A1-183[»]
4DYXX-ray1.85A6-177[»]
4DYYX-ray1.90A6-177[»]
4DYZX-ray2.30A6-177[»]
4DZ0X-ray2.50A6-177[»]
4OYNX-ray1.43A1-183[»]
4Y08X-ray1.34A1-183[»]
4YKHX-ray1.52A1-183[»]
4ZJKX-ray1.56A2-183[»]
5CMQX-ray1.94A2-183[»]
5CMRX-ray3.79A2-183[»]
5GN8X-ray2.81A2-183[»]
B2-153[»]
5GOUX-ray2.91A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P1-183[»]
5JKKX-ray1.60A/B/C/D/E/F/G/H1-183[»]
5JKLX-ray1.80A/B/C/D/E/F/G/H/I/J/K/L1-183[»]
5JKMX-ray1.80A/B/C/D/E/F/G/H/I/J/K/L1-183[»]
5N26X-ray2.05A2-183[»]
5N27X-ray1.74A2-183[»]
5UP7X-ray1.79A2-183[»]
5UP8X-ray2.63A2-183[»]
5UP9X-ray2.45A/B/C/D/E/F2-183[»]
5VTDX-ray1.95A2-183[»]
5XB1electron microscopy3.00A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-160[»]
5YI5electron microscopy3.00A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X1-177[»]
ProteinModelPortaliP02794
SMRiP02794
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02794

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini11 – 160Ferritin-like diironPROSITE-ProRule annotationAdd BLAST150

Sequence similaritiesi

Belongs to the ferritin family.Curated

Phylogenomic databases

eggNOGiKOG2332 Eukaryota
COG1528 LUCA
GeneTreeiENSGT00760000119129
HOVERGENiHBG000410
InParanoidiP02794
KOiK00522
OMAiQALHNFA
OrthoDBiEOG091G0J20
PhylomeDBiP02794
TreeFamiTF313885

Family and domain databases

Gene3Di1.20.1260.10, 1 hit
InterProiView protein in InterPro
IPR001519 Ferritin
IPR012347 Ferritin-like
IPR009040 Ferritin-like_diiron
IPR009078 Ferritin-like_SF
IPR014034 Ferritin_CS
IPR008331 Ferritin_DPS_dom
PANTHERiPTHR11431 PTHR11431, 1 hit
PfamiView protein in Pfam
PF00210 Ferritin, 1 hit
SUPFAMiSSF47240 SSF47240, 1 hit
PROSITEiView protein in PROSITE
PS00540 FERRITIN_1, 1 hit
PS00204 FERRITIN_2, 1 hit
PS50905 FERRITIN_LIKE, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02794-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTTASTSQVR QNYHQDSEAA INRQINLELY ASYVYLSMSY YFDRDDVALK
60 70 80 90 100
NFAKYFLHQS HEEREHAEKL MKLQNQRGGR IFLQDIKKPD CDDWESGLNA
110 120 130 140 150
MECALHLEKN VNQSLLELHK LATDKNDPHL CDFIETHYLN EQVKAIKELG
160 170 180
DHVTNLRKMG APESGLAEYL FDKHTLGDSD NES
Length:183
Mass (Da):21,226
Last modified:January 23, 2007 - v2
Checksum:iFEF75640A29CCF56
GO

Sequence cautioni

The sequence AAI05803 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti176 – 183LGDSDNES → WETVIMKAKPRANFP in CAA25086 (PubMed:6323167).Curated8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X00318 mRNA Translation: CAA25086.1
M11146 mRNA Translation: AAA52437.1
M12937 mRNA Translation: AAA35830.1
X03487, X03488 Genomic DNA Translation: CAA27205.1
M14212, M14211 Genomic DNA Translation: AAA52438.1
M97164 mRNA Translation: AAA35832.1
L20941 mRNA Translation: AAA35833.1
AF088851 mRNA Translation: AAF89523.1
AY258285 mRNA Translation: AAP82230.1
AB062402 mRNA Translation: BAB93489.1
AK054816 mRNA Translation: BAG51427.1
DQ496108 Genomic DNA Translation: ABF47097.1
CH471076 Genomic DNA Translation: EAW73989.1
BC000857 mRNA Translation: AAH00857.1
BC001399 mRNA Translation: AAH01399.1
BC011359 mRNA Translation: AAH11359.1
BC013724 mRNA Translation: AAH13724.1
BC015156 mRNA Translation: AAH15156.1
BC016009 mRNA Translation: AAH16009.1
BC016857 mRNA Translation: AAH16857.1
BC063514 mRNA Translation: AAH63514.1
BC066961 mRNA Translation: AAH66961.1
BC073750 mRNA Translation: AAH73750.1
BC104643 mRNA Translation: AAI04644.1
BC105802 mRNA Translation: AAI05803.1 Different initiation.
M15383 mRNA Translation: AAA52479.1
CCDSiCCDS41655.1
PIRiA23517 FRHUH
RefSeqiNP_002023.2, NM_002032.2
UniGeneiHs.524910
Hs.645560

Genome annotation databases

EnsembliENST00000273550; ENSP00000273550; ENSG00000167996
ENST00000620041; ENSP00000484477; ENSG00000167996
GeneIDi2495
KEGGihsa:2495
UCSCiuc001nsu.3 human

Similar proteinsi

Entry informationi

Entry nameiFRIH_HUMAN
AccessioniPrimary (citable) accession number: P02794
Secondary accession number(s): B3KNR5, Q3KRA8, Q3SWW1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: May 23, 2018
This is version 214 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

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