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Protein

Ferritin light chain

Gene

FTL

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. 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 similarity2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi54Iron1
Metal bindingi57Iron1
Metal bindingi58Iron1
Metal bindingi61Iron1
Metal bindingi64Iron1

GO - Molecular functioni

  • ferric iron binding Source: InterPro
  • identical protein binding Source: IntAct
  • iron ion binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processIron storage
LigandIron, Metal-binding

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Ferritin light chain
Short name:
Ferritin L subunit
Gene namesi
Name:FTL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000087086.13
HGNCiHGNC:3999 FTL
MIMi134790 gene
neXtProtiNX_P02792

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

Hyperferritinemia with or without cataract (HRFTC)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients.
See also OMIM:600886
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07094830T → I in HRFTC. 1 PublicationCorresponds to variant dbSNP:rs397514540EnsemblClinVar.1
Neurodegeneration with brain iron accumulation 3 (NBIA3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels.
See also OMIM:606159
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02663396A → T in NBIA3. 1 PublicationCorresponds to variant dbSNP:rs104894685EnsemblClinVar.1
L-ferritin deficiency (LFTD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition characterized by low levels of ferritin in serum and tissues in the absence of other hematological symptoms. Seizures and mild neuropsychologic impairment may manifest in individuals with complete ferritin deficiency.
See also OMIM:615604

Keywords - Diseasei

Cataract, Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi2512
GeneReviewsiFTL
MalaCardsiFTL
MIMi600886 phenotype
606159 phenotype
615604 phenotype
OpenTargetsiENSG00000087086
Orphaneti254704 Genetic hyperferritinemia without iron overload
163 Hereditary hyperferritinemia with congenital cataracts
157846 Neuroferritinopathy
PharmGKBiPA28412

Chemistry databases

DrugBankiDB09412 Gallium citrate Ga-67
DB00893 Iron Dextran
DB02285 Protoporphyrin Ix

Polymorphism and mutation databases

BioMutaiFTL
DMDMi120523

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002010602 – 175Ferritin light chainAdd BLAST174

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiP02792
MaxQBiP02792
PaxDbiP02792
PeptideAtlasiP02792
PRIDEiP02792
ProteomicsDBi51599
TopDownProteomicsiP02792

PTM databases

iPTMnetiP02792
PhosphoSitePlusiP02792
SwissPalmiP02792

Expressioni

Gene expression databases

BgeeiENSG00000087086 Expressed in 90 organ(s), highest expression level in blood
CleanExiHS_FTL
GenevisibleiP02792 HS

Organism-specific databases

HPAiCAB020769
HPA041602

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. 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. Iron enters the spherical protein shell through pores that are formed between subunits. Mutations leading to truncation or the addition of extra residues at the C-terminus interfere with normal pore formation and with iron accumulation.3 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108789, 49 interactors
CORUMiP02792
DIPiDIP-31248N
IntActiP02792, 31 interactors
MINTiP02792
STRINGi9606.ENSP00000366525

Structurei

Secondary structure

1175
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP02792
SMRiP02792
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02792

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini7 – 156Ferritin-like diironPROSITE-ProRule annotationAdd BLAST150

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni54 – 61Catalytic site for iron oxidation8

Sequence similaritiesi

Belongs to the ferritin family.Curated

Phylogenomic databases

eggNOGiENOG410KDTV Eukaryota
ENOG4111WYH LUCA
GeneTreeiENSGT00760000119129
HOVERGENiHBG000410
InParanoidiP02792
KOiK13625
OMAiVNLYLRA
PhylomeDBiP02792
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.

P02792-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSSQIRQNYS TDVEAAVNSL VNLYLQASYT YLSLGFYFDR DDVALEGVSH
60 70 80 90 100
FFRELAEEKR EGYERLLKMQ NQRGGRALFQ DIKKPAEDEW GKTPDAMKAA
110 120 130 140 150
MALEKKLNQA LLDLHALGSA RTDPHLCDFL ETHFLDEEVK LIKKMGDHLT
160 170
NLHRLGGPEA GLGEYLFERL TLKHD
Length:175
Mass (Da):20,020
Last modified:January 23, 2007 - v2
Checksum:i0DB98081FF976BC2
GO

Sequence cautioni

The sequence CAE11873 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti54E → Q AA sequence (PubMed:6653779).Curated1
Sequence conflicti87E → Q AA sequence (PubMed:6653779).Curated1
Sequence conflicti89E → W AA sequence (PubMed:8706699).Curated1
Sequence conflicti102A → T in AAA35831 (PubMed:3858810).Curated1
Sequence conflicti154R → A AA sequence (PubMed:8706699).Curated1
Sequence conflicti175D → N AA sequence (PubMed:6653779).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07094830T → I in HRFTC. 1 PublicationCorresponds to variant dbSNP:rs397514540EnsemblClinVar.1
Natural variantiVAR_02663396A → T in NBIA3. 1 PublicationCorresponds to variant dbSNP:rs104894685EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M11147 mRNA Translation: AAA52439.1
M10119 mRNA Translation: AAA35831.1
M12938 mRNA Translation: AAA52440.1
AY207005 mRNA Translation: AAO52739.1
CR456715 mRNA Translation: CAG32996.1
AK311773 mRNA Translation: BAG34716.1
BX571748 mRNA Translation: CAE11873.1 Different initiation.
AC026803 Genomic DNA No translation available.
BC002991 mRNA Translation: AAH02991.2
BC004245 mRNA Translation: AAH04245.1
BC008439 mRNA Translation: AAH08439.1
BC013928 mRNA Translation: AAH13928.1
BC016715 mRNA Translation: AAH16715.1
BC016346 mRNA Translation: AAH16346.1
BC016354 mRNA Translation: AAH16354.1
BC018990 mRNA Translation: AAH18990.1
BC021670 mRNA Translation: AAH21670.1
BC058820 mRNA Translation: AAH58820.1
BC062708 mRNA Translation: AAH62708.1
X03742 Genomic DNA Translation: CAA27382.1
X03743 Genomic DNA Translation: CAA27383.1
X03743 Genomic DNA Translation: CAA27384.1
CCDSiCCDS33070.1
PIRiB23920 FRHUL
RefSeqiNP_000137.2, NM_000146.3
UniGeneiHs.433670
Hs.728304

Genome annotation databases

EnsembliENST00000331825; ENSP00000366525; ENSG00000087086
GeneIDi2512
KEGGihsa:2512
UCSCiuc002plo.4 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Ferritin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M11147 mRNA Translation: AAA52439.1
M10119 mRNA Translation: AAA35831.1
M12938 mRNA Translation: AAA52440.1
AY207005 mRNA Translation: AAO52739.1
CR456715 mRNA Translation: CAG32996.1
AK311773 mRNA Translation: BAG34716.1
BX571748 mRNA Translation: CAE11873.1 Different initiation.
AC026803 Genomic DNA No translation available.
BC002991 mRNA Translation: AAH02991.2
BC004245 mRNA Translation: AAH04245.1
BC008439 mRNA Translation: AAH08439.1
BC013928 mRNA Translation: AAH13928.1
BC016715 mRNA Translation: AAH16715.1
BC016346 mRNA Translation: AAH16346.1
BC016354 mRNA Translation: AAH16354.1
BC018990 mRNA Translation: AAH18990.1
BC021670 mRNA Translation: AAH21670.1
BC058820 mRNA Translation: AAH58820.1
BC062708 mRNA Translation: AAH62708.1
X03742 Genomic DNA Translation: CAA27382.1
X03743 Genomic DNA Translation: CAA27383.1
X03743 Genomic DNA Translation: CAA27384.1
CCDSiCCDS33070.1
PIRiB23920 FRHUL
RefSeqiNP_000137.2, NM_000146.3
UniGeneiHs.433670
Hs.728304

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2FFXX-ray1.90J2-174[»]
2FG4X-ray2.10A2-175[»]
2FG8X-ray2.50A/B/C/D/E/F/G/H2-175[»]
3KXUX-ray1.85A1-166[»]
4V6BX-ray2.85A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X/a/b/c/d/e/f/g/h/i/j/k/l/m/n/o/p/q/r/s/t/u/v/w/x1-166[»]
5LG8X-ray1.98A1-175[»]
ProteinModelPortaliP02792
SMRiP02792
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108789, 49 interactors
CORUMiP02792
DIPiDIP-31248N
IntActiP02792, 31 interactors
MINTiP02792
STRINGi9606.ENSP00000366525

Chemistry databases

DrugBankiDB09412 Gallium citrate Ga-67
DB00893 Iron Dextran
DB02285 Protoporphyrin Ix

PTM databases

iPTMnetiP02792
PhosphoSitePlusiP02792
SwissPalmiP02792

Polymorphism and mutation databases

BioMutaiFTL
DMDMi120523

Proteomic databases

EPDiP02792
MaxQBiP02792
PaxDbiP02792
PeptideAtlasiP02792
PRIDEiP02792
ProteomicsDBi51599
TopDownProteomicsiP02792

Protocols and materials databases

DNASUi2512
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331825; ENSP00000366525; ENSG00000087086
GeneIDi2512
KEGGihsa:2512
UCSCiuc002plo.4 human

Organism-specific databases

CTDi2512
DisGeNETi2512
EuPathDBiHostDB:ENSG00000087086.13
GeneCardsiFTL
GeneReviewsiFTL
HGNCiHGNC:3999 FTL
HPAiCAB020769
HPA041602
MalaCardsiFTL
MIMi134790 gene
600886 phenotype
606159 phenotype
615604 phenotype
neXtProtiNX_P02792
OpenTargetsiENSG00000087086
Orphaneti254704 Genetic hyperferritinemia without iron overload
163 Hereditary hyperferritinemia with congenital cataracts
157846 Neuroferritinopathy
PharmGKBiPA28412
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KDTV Eukaryota
ENOG4111WYH LUCA
GeneTreeiENSGT00760000119129
HOVERGENiHBG000410
InParanoidiP02792
KOiK13625
OMAiVNLYLRA
PhylomeDBiP02792
TreeFamiTF313885

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiFTL human
EvolutionaryTraceiP02792
GeneWikiiFerritin_light_chain
GenomeRNAii2512
PROiPR:P02792
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000087086 Expressed in 90 organ(s), highest expression level in blood
CleanExiHS_FTL
GenevisibleiP02792 HS

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
ProtoNetiSearch...

Entry informationi

Entry nameiFRIL_HUMAN
AccessioniPrimary (citable) accession number: P02792
Secondary accession number(s): B2R4B9
, Q6IBT7, Q7Z2W1, Q86WI9, Q8WU07, Q96AU9, Q96CU0, Q9BTZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 199 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, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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