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    FTL ferritin light chain [ Homo sapiens (human) ]

    Gene ID: 2512, updated on 6-Aug-2019

    Summary

    Official Symbol
    FTLprovided by HGNC
    Official Full Name
    ferritin light chainprovided by HGNC
    Primary source
    HGNC:HGNC:3999
    See related
    Ensembl:ENSG00000087086 MIM:134790
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LFTD; NBIA3
    Summary
    This gene encodes the light subunit of the ferritin protein. Ferritin is 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 rates of iron uptake and release in different tissues. A major function of ferritin is the storage of iron in a soluble and nontoxic state. Defects in this light chain ferritin gene are associated with several neurodegenerative diseases and hyperferritinemia-cataract syndrome. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 2442.6), spleen (RPKM 2174.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See FTL in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (48963941..48966879)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49467659..49470136)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene glycogen synthase 1 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hyperferritinemia cataract syndrome
    MedGen: C1833213 OMIM: 600886 GeneReviews: Not available
    Compare labs
    L-ferritin deficiency
    MedGen: C3810090 OMIM: 615604 GeneReviews: Not available
    Compare labs
    Neuroferritinopathy
    MedGen: C1853578 OMIM: 606159 GeneReviews: Neuroferritinopathy
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2013-08-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2013-08-22)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Nef-mediated activation of NF-kappaB in macrophages induces secretion of the acute-phase protein ferritin, which is necessary and sufficient for Nef-dependent B cell changes PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ferritin, light polypeptide (FTL) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystem (from REACTOME)
      Binding and Uptake of Ligands by Scavenger Receptors, organism-specific biosystemScavenger receptors bind free extracellular ligands as the initial step in clearance of the ligands from the body (reviewed in Ascenzi et al. 2005, Areschoug and Gordon 2009, Nielsen et al. 2010). So...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Ferroptosis, organism-specific biosystem (from KEGG)
      Ferroptosis, organism-specific biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
    • Ferroptosis, conserved biosystem (from KEGG)
      Ferroptosis, conserved biosystemFerroptosis is a regulated form of cell death and characterized by a production of reactive oxygen species (ROS) from accumulated iron and lipid peroxidation. It can be induced by experimental compou...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Iron uptake and transport, organism-specific biosystem (from REACTOME)
      Iron uptake and transport, organism-specific biosystemThe transport of iron between cells is mediated by transferrin. However, iron can also enter and leave cells not only by itself, but also in the form of heme and siderophores. When entering the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Mineral absorption, organism-specific biosystem (from KEGG)
      Mineral absorption, organism-specific biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • Mineral absorption, conserved biosystem (from KEGG)
      Mineral absorption, conserved biosystemMinerals are one of the five fundamental groups of nutrients needed to sustain life. Of the minerals, calcium plays innumerable roles in our bodies, serving as a main component of bone as well as an ...
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • Nanoparticle triggered regulated necrosis, organism-specific biosystem (from WikiPathways)
      Nanoparticle triggered regulated necrosis, organism-specific biosystemProgrammed cell death: regulated necrosis. During regulated necrosis, different stimuli are recognized or sensed by specific receptors on the cell surface or inside cells. The activation of the necro...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Scavenging by Class A Receptors, organism-specific biosystem (from REACTOME)
      Scavenging by Class A Receptors, organism-specific biosystemClass A scavenger receptors contain an intracellular domain, a transmembrane region, a coiled-coil domain, a collagenous domain, and the SR cysteine-rich domain (reviewed in Areschoug and Gordon 2009...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC71996

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ferric iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ferroxidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    identical protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    iron ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
     
    intracellular sequestering of iron ion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    iron ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    iron ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    autolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    intracellular ferritin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 

    General protein information

    Preferred Names
    ferritin light chain
    Names
    epididymis secretory sperm binding protein
    ferritin L subunit
    ferritin L-chain
    ferritin light polypeptide-like 3
    ferritin, light polypeptide

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008152.1 RefSeqGene

      Range
      5001..6571
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000146.4NP_000137.2  ferritin light chain

      See identical proteins and their annotated locations for NP_000137.2

      Status: REVIEWED

      Source sequence(s)
      AK130191, BC004245
      Consensus CDS
      CCDS33070.1
      UniProtKB/Swiss-Prot
      P02792
      Related
      ENSP00000366525.2, ENST00000331825.11
      Conserved Domains (1) summary
      cd00904
      Location:10169
      Ferritin; Ferritin iron storage proteins

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      48963941..48966879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024451447.1XP_024307215.1  ferritin light chain isoform X1

      Conserved Domains (1) summary
      cd00904
      Location:180339
      Ferritin; Ferritin iron storage proteins
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