U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    FTL ferritin light chain [ Homo sapiens (human) ]

    Gene ID: 2512, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:3999
    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
    FTL1; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FTL in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (48965309..48966879)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (51960189..51961759)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (49468566..49470136)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49436529-49437030 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49438311-49438870 Neighboring gene dihydrodiol dehydrogenase Neighboring gene Sharpr-MPRA regulatory region 12688 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:49457811-49458379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:49458380-49458947 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 2 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 3 Neighboring gene BCL2 associated X, apoptosis regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49473581-49474108 Neighboring gene CRISPRi-FlowFISH-validated FTL regulatory element 4 Neighboring gene Sharpr-MPRA regulatory region 1809 Neighboring gene glycogen synthase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14921 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:49491709-49491891 Neighboring gene skeletal muscle cis-regulatory module in GYS1 intron Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14923 Neighboring gene Sharpr-MPRA regulatory region 732 Neighboring gene RuvB like AAA ATPase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49507585-49508084 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:49512697-49513198 Neighboring gene microRNA 6798

    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

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC71996

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ferric iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables iron ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular iron ion homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in intracellular sequestering of iron ion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in iron ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in autolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    part_of intracellular ferritin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in 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)

    NEW Try the new Transcript table

    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
      B2R4B9, P02792, Q6IBT7, Q7Z2W1, Q86WI9, Q8WU07, Q96AU9, Q96CU0, Q9BTZ8
      UniProtKB/TrEMBL
      A0A384MDR3, Q6S4P3
      Related
      ENSP00000366525.2, ENST00000331825.11
      Conserved Domains (1) summary
      cd00904
      Location:10169
      Ferritin; Ferritin iron storage proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      48965309..48966879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      51960189..51961759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)