LOCUS       NM_000146                871 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens ferritin light chain (FTL), mRNA.
ACCESSION   NM_000146
VERSION     NM_000146.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 871)
  AUTHORS   Swanson,M.E.V., Mrkela,M., Murray,H.C., Cao,M.C., Turner,C.,
            Curtis,M.A., Faull,R.L.M., Walker,A.K. and Scotter,E.L.
  TITLE     Microglial CD68 and L-ferritin upregulation in response to
            phosphorylated-TDP-43 pathology in the amyotrophic lateral
            sclerosis brain
  JOURNAL   Acta Neuropathol Commun 11 (1), 69 (2023)
   PUBMED   37118836
  REMARK    GeneRIF: Microglial CD68 and L-ferritin upregulation in response to
            phosphorylated-TDP-43 pathology in the amyotrophic lateral
            sclerosis brain.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 871)
  AUTHORS   Yang,X., Ding,Y., Sun,L., Shi,M., Zhang,P., Huang,Z., Wang,J.,
            He,A., Wang,J., Wei,J., Liu,M., Liu,J., Wang,G., Yang,X. and Li,R.
  TITLE     Ferritin light chain deficiency-induced ferroptosis is involved in
            preeclampsia pathophysiology by disturbing uterine spiral artery
            remodelling
  JOURNAL   Redox Biol 58, 102555 (2022)
   PUBMED   36446230
  REMARK    GeneRIF: Ferritin light chain deficiency-induced ferroptosis is
            involved in preeclampsia pathophysiology by disturbing uterine
            spiral artery remodelling.
REFERENCE   3  (bases 1 to 871)
  AUTHORS   Yang,Y., Lin,T., Kuang,P. and Chen,X.
  TITLE     Ferritin L-subunit gene mutation and hereditary hyperferritinaemia
            cataract syndrome (HHCS): a case report and literature review
  JOURNAL   Hematology 26 (1), 896-903 (2021)
   PUBMED   34789084
  REMARK    GeneRIF: Ferritin L-subunit gene mutation and hereditary
            hyperferritinaemia cataract syndrome (HHCS): a case report and
            literature review.
            Review article
REFERENCE   4  (bases 1 to 871)
  AUTHORS   Otsu,W., Ishida,K., Chinen,N., Nakamura,S., Shimazawa,M.,
            Tsusaki,H. and Hara,H.
  TITLE     Cigarette smoke extract and heated tobacco products promote
            ferritin cleavage and iron accumulation in human corneal epithelial
            cells
  JOURNAL   Sci Rep 11 (1), 18555 (2021)
   PUBMED   34535730
  REMARK    GeneRIF: Cigarette smoke extract and heated tobacco products
            promote ferritin cleavage and iron accumulation in human corneal
            epithelial cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 871)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   6  (bases 1 to 871)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
REFERENCE   7  (bases 1 to 871)
  AUTHORS   Chinnery,P.F.
  TITLE     Neuroferritinopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301320
REFERENCE   8  (bases 1 to 871)
  AUTHORS   Gatti,R.A., Shaked,R., Mohandas,T.K. and Salser,W.
  TITLE     Human ferritin genes: chromosomal assignments and polymorphisms
  JOURNAL   Am J Hum Genet 41 (4), 654-667 (1987)
   PUBMED   2821803
REFERENCE   9  (bases 1 to 871)
  AUTHORS   Lebo,R.V., Kan,Y.W., Cheung,M.C., Jain,S.K. and Drysdale,J.
  TITLE     Human ferritin light chain gene sequences mapped to several sorted
            chromosomes
  JOURNAL   Hum Genet 71 (4), 325-328 (1985)
   PUBMED   3000916
REFERENCE   10 (bases 1 to 871)
  AUTHORS   Arosio,P., Adelman,T.G. and Drysdale,J.W.
  TITLE     On ferritin heterogeneity. Further evidence for heteropolymers
  JOURNAL   J Biol Chem 253 (12), 4451-4458 (1978)
   PUBMED   659425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK130191.1 and BC004245.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000146.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR5189658.170280.1,
                                           SRR3476690.1169062.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000331825.11/ ENSP00000366525.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AK130191.1         1-11
            12-871              BC004245.1         1-860
FEATURES             Location/Qualifiers
     source          1..871
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.33"
     gene            1..871
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="ferritin light chain"
                     /db_xref="GeneID:2512"
                     /db_xref="HGNC:HGNC:3999"
                     /db_xref="MIM:134790"
     exon            1..301
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /inference="alignment:Splign:2.1.0"
     CDS             200..727
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="ferritin light polypeptide-like 3; ferritin L
                     subunit; ferritin L-chain; ferritin, light polypeptide;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="ferritin light chain"
                     /protein_id="NP_000137.2"
                     /db_xref="CCDS:CCDS33070.1"
                     /db_xref="GeneID:2512"
                     /db_xref="HGNC:HGNC:3999"
                     /db_xref="MIM:134790"
                     /translation="MSSQIRQNYSTDVEAAVNSLVNLYLQASYTYLSLGFYFDRDDVA
                     LEGVSHFFRELAEEKREGYERLLKMQNQRGGRALFQDIKKPAEDEWGKTPDAMKAAMA
                     LEKKLNQALLDLHALGSARTDPHLCDFLETHFLDEEVKLIKKMGDHLTNLHRLGGPEA
                     GLGEYLFERLTLKHD"
     exon            302..448
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /inference="alignment:Splign:2.1.0"
     exon            449..574
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /inference="alignment:Splign:2.1.0"
     exon            575..871
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      853..858
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="hexamer: AATAAA"
     polyA_site      871
                     /gene="FTL"
                     /gene_synonym="FTL1; LFTD; NBIA3"
                     /note="major polyA site"
ORIGIN      
        1 gcagttcggc ggtcccgcgg gtctgtctct tgcttcaaca gtgtttggac ggaacagatc
       61 cggggactct cttccagcct ccgaccgccc tccgatttcc tctccgcttg caacctccgg
      121 gaccatcttc tcggccatct cctgcttctg ggacctgcca gcaccgtttt tgtggttagc
      181 tccttcttgc caaccaacca tgagctccca gattcgtcag aattattcca ccgacgtgga
      241 ggcagccgtc aacagcctgg tcaatttgta cctgcaggcc tcctacacct acctctctct
      301 gggcttctat ttcgaccgcg atgatgtggc tctggaaggc gtgagccact tcttccgcga
      361 attggccgag gagaagcgcg agggctacga gcgtctcctg aagatgcaaa accagcgtgg
      421 cggccgcgct ctcttccagg acatcaagaa gccagctgaa gatgagtggg gtaaaacccc
      481 agacgccatg aaagctgcca tggccctgga gaaaaagctg aaccaggccc ttttggatct
      541 tcatgccctg ggttctgccc gcacggaccc ccatctctgt gacttcctgg agactcactt
      601 cctagatgag gaagtgaagc ttatcaagaa gatgggtgac cacctgacca acctccacag
      661 gctgggtggc ccggaggctg ggctgggcga gtatctcttc gaaaggctca ctctcaagca
      721 cgactaagag ccttctgagc ccagcgactt ctgaagggcc ccttgcaaag taatagggct
      781 tctgcctaag cctctccctc cagccaatag gcagctttct taactatcct aacaagcctt
      841 ggaccaaatg gaaataaagc tttttgatgc a
//
