LOCUS       NM_006158               3584 bp    mRNA    linear   PRI 08-FEB-2025
DEFINITION  Homo sapiens neurofilament light chain (NEFL), mRNA.
ACCESSION   NM_006158
VERSION     NM_006158.5
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 3584)
  AUTHORS   Liu,X., Chen,X. and Chen,J.
  TITLE     Relationship between serum neurofilament light chain protein and
            depression: A nationwide survey and Mendelian randomization study
  JOURNAL   J Affect Disord 366, 162-171 (2024)
   PUBMED   39197554
  REMARK    GeneRIF: Relationship between serum neurofilament light chain
            protein and depression: A nationwide survey and Mendelian
            randomization study.
REFERENCE   2  (bases 1 to 3584)
  AUTHORS   Ponleitner,M., Gatterer,C., Bsteh,G., Rath,J., Altmann,P.,
            Berger,T., Graf,S., Sunder-Plassmann,G. and Rommer,P.S.
  TITLE     Investigation of serum neurofilament light chain as a biomarker in
            Fabry disease
  JOURNAL   Sci Rep 14 (1), 23033 (2024)
   PUBMED   39362930
  REMARK    GeneRIF: Investigation of serum neurofilament light chain as a
            biomarker in Fabry disease.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3584)
  AUTHORS   Xu,Q., Wang,J., Li,H. and Gao,Y.
  TITLE     Association between serum neurofilament light chains (sNfL) and
            neurologic disorders in a representative sample of US adults: a
            cross-sectional study
  JOURNAL   Rev Clin Esp (Barc) 224 (8), 510-521 (2024)
   PUBMED   38972635
  REMARK    GeneRIF: Association between serum neurofilament light chains
            (sNfL) and neurologic disorders in a representative sample of US
            adults: a cross-sectional study.
REFERENCE   4  (bases 1 to 3584)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Hereditary Neuropathy Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301532
REFERENCE   5  (bases 1 to 3584)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301462
REFERENCE   6  (bases 1 to 3584)
  AUTHORS   Bird,T.D.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 1 - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301384
REFERENCE   7  (bases 1 to 3584)
  AUTHORS   De Jonghe,P. and Jordanova,A.K.
  TITLE     Charcot-Marie-Tooth Neuropathy Type 2E/1F - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301366
REFERENCE   8  (bases 1 to 3584)
  AUTHORS   Beaudet,L., Charron,G. and Julien,J.P.
  TITLE     Origin of the two mRNA species for the human neurofilament light
            gene
  JOURNAL   Biochem Cell Biol 70 (5), 279-284 (1992)
   PUBMED   1497855
REFERENCE   9  (bases 1 to 3584)
  AUTHORS   Julien,J.P., Grosveld,F., Yazdanbaksh,K., Flavell,D., Meijer,D. and
            Mushynski,W.
  TITLE     The structure of a human neurofilament gene (NF-L): a unique
            exon-intron organization in the intermediate filament gene family
  JOURNAL   Biochim Biophys Acta 909 (1), 10-20 (1987)
   PUBMED   3034332
REFERENCE   10 (bases 1 to 3584)
  AUTHORS   Hurst,J., Flavell,D., Julien,J.P., Meijer,D., Mushynski,W. and
            Grosveld,F.
  TITLE     The human neurofilament gene (NEFL) is located on the short arm of
            chromosome 8
  JOURNAL   Cytogenet Cell Genet 45 (1), 30-32 (1987)
   PUBMED   3036423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC039237.1, AK225975.1,
            BC037803.2 and BQ720008.1.
            
            On Dec 4, 2019 this sequence version replaced NM_006158.4.
            
            Summary: Neurofilaments are type IV intermediate filament
            heteropolymers composed of light, medium, and heavy chains.
            Neurofilaments comprise the axoskeleton and they functionally
            maintain the neuronal caliber. They may also play a role in
            intracellular transport to axons and dendrites. This gene encodes
            the light chain neurofilament protein. Mutations in this gene cause
            Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E),
            disorders of the peripheral nervous system that are characterized
            by distinct neuropathies. A pseudogene has been identified on
            chromosome Y. [provided by RefSeq, Oct 2008].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: AK075003.1, BC039237.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000610854.2/ ENSP00000482169.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1963              BC039237.1         1-1963
            1964-2160           AK225975.1         1964-2160
            2161-2415           BC039237.1         2161-2415
            2416-2835           BC037803.2         44-463
            2836-3348           BQ720008.1         185-697
            3349-3584           BC037803.2         977-1212
FEATURES             Location/Qualifiers
     source          1..3584
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..3584
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="neurofilament light chain"
                     /db_xref="GeneID:4747"
                     /db_xref="HGNC:HGNC:7739"
                     /db_xref="MIM:162280"
     exon            1..1141
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1729
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="neurofilament, light polypeptide 68kDa;
                     neurofilament protein, light chain; light molecular weight
                     neurofilament protein; neurofilament triplet L protein;
                     neurofilament subunit NF-L; protein phosphatase 1,
                     regulatory subunit 110"
                     /codon_start=1
                     /product="neurofilament light polypeptide"
                     /protein_id="NP_006149.2"
                     /db_xref="CCDS:CCDS75712.1"
                     /db_xref="GeneID:4747"
                     /db_xref="HGNC:HGNC:7739"
                     /db_xref="MIM:162280"
                     /translation="MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYS
                     APVSSSLSVRRSYSSSSGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFA
                     SFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQAL
                     QGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMD
                     EISFLKKVHEEEIAELQAQIQYAQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNA
                     EEWFKSRFTVLTESAAKNTDAVRAAKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQ
                     ELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDLLNVKMALDIEIAAYRKL
                     LEGEETRLSFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEE
                     QIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKEEAEEEEAAEEEEAAKEESEEAKEE
                     EEGGEGEEGEETKEAEEEEKKVEGAGEEQAAKKKD"
     exon            1142..1266
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1586
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /inference="alignment:Splign:2.1.0"
     exon            1587..3584
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2141..2146
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="hexamer: AATAAA"
     polyA_site      2164
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="major polyA site"
     regulatory      3562..3567
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="hexamer: AATAAA"
     polyA_site      3584
                     /gene="NEFL"
                     /gene_synonym="CMT1F; CMT2E; CMTDIG; NF-L; NF68; NFL;
                     PPP1R110"
                     /note="major polyA site"
ORIGIN      
        1 gcacacagcc atccatcctc ccccttccct ctctcccctg tcctctctct ccgggctccc
       61 accgccgccg cgggccgggg agccaccggc cgccaccatg agttccttca gctacgagcc
      121 gtactactcg acctcctaca agcggcgcta cgtggagacg ccccgggtgc acatctccag
      181 cgtgcgcagc ggctacagca ccgcacgctc agcttactcc agctactcgg cgccggtgtc
      241 ttcctcgctg tccgtgcgcc gcagctactc ctccagctct ggatcgttga tgcccagtct
      301 ggagaacctc gacctgagcc aggtagccgc catcagcaac gacctcaagt ccatccgcac
      361 gcaggagaag gcgcagctcc aggacctcaa tgaccgcttc gccagcttca tcgagcgcgt
      421 gcacgagctg gagcagcaga acaaggtcct ggaagccgag ctgctggtgc tgcgccagaa
      481 gcactccgag ccatcccgct tccgggcgct gtacgagcag gagatccgcg acctgcgcct
      541 ggcggcggaa gatgccacca acgagaagca ggcgctccag ggcgagcgcg aagggctgga
      601 ggagaccctg cgcaacctgc aggcgcgcta tgaagaggag gtgctgagcc gcgaggacgc
      661 cgagggccgg ctgatggaag cgcgcaaagg cgccgacgag gcggcgctcg ctcgcgccga
      721 gctcgagaag cgcatcgaca gcttgatgga cgaaatctct tttctgaaga aagtgcacga
      781 agaggagatc gccgaactgc aggcgcagat ccagtacgcg cagatctccg tggagatgga
      841 cgtgaccaag cccgaccttt ccgccgcgct caaggacatc cgcgcgcagt acgagaagct
      901 ggccgccaag aacatgcaga acgctgagga atggttcaag agccgcttca ccgtgctgac
      961 cgagagcgcc gccaagaaca ccgacgccgt gcgcgccgcc aaggacgagg tgtccgagag
     1021 ccgtcgtctg ctcaaggcca agaccctgga aatcgaagca tgccggggca tgaatgaagc
     1081 gctggagaag cagctgcagg agctggagga caagcagaac gccgacatca gcgctatgca
     1141 ggacacgatc aacaaattag aaaatgaatt gaggaccaca aagagtgaaa tggcacgata
     1201 cctaaaagaa taccaagacc tcctcaacgt gaagatggct ttggatattg agattgcagc
     1261 ttacaggaaa ctcttggaag gcgaggagac ccgactcagt ttcaccagcg tgggaagcat
     1321 aaccagtggc tactcccaga gctcccaggt ctttggccga tctgcctacg gcggtttaca
     1381 gaccagctcc tatctgatgt ccacccgctc cttcccgtcc tactacacca gccatgtcca
     1441 agaggagcag atcgaagtgg aggaaaccat tgaggctgcc aaggctgagg aagccaagga
     1501 tgagcccccc tctgaaggag aagccgagga ggaggagaag gacaaggaag aggccgagga
     1561 agaggaggca gctgaagagg aagaagctgc caaggaagag tctgaagaag caaaagaaga
     1621 agaagaagga ggtgaaggtg aagaaggaga ggaaaccaaa gaagctgaag aggaggagaa
     1681 gaaagttgaa ggtgctgggg aggaacaagc agctaagaag aaagattgaa cccccatttc
     1741 cttaattatt tcaggaataa ttctcccgaa atcaggtcaa ccccatcacc aaccaaccaa
     1801 ccagttgagt tccagattct atgtgaatta aaaagtcaat atatgtataa ttctgagatg
     1861 acttaggttg gacattcaat gttgtgctat gaatttcctc tttatgcaga gtatctgttt
     1921 gcttgcagag tggctttctg gcttgctgcc agcctgtgca tggaccacgc ttatgagttc
     1981 aggatctacg gcaatgtgaa tcattcagat gtttacaata aaaaacacca catgagtaaa
     2041 tgaattcact aatgttaatg ttaaacttca tggaaaaata gtcctttgaa ccttcggtgg
     2101 ttagcaatta aagaccctga gttatgtgca ataaatagta aataaagtta taccgaatga
     2161 tgtatttttt gctgtggttg ttacttaatt aaaatacctt aaagatggca ccaatataaa
     2221 gtatatacca gtggactatt gacctccaat tttttaaaaa gttgaaattt taacaattac
     2281 caatactttt ttttcttcct tcaattggaa attctgaggg atacagttat gtcatgatta
     2341 cttgtgaaat ctctccccac aaaaatttta ctgataataa acatgagtaa atgagaaagt
     2401 ctataaataa caatagactt tgcctcataa cacgtgttgt gttaggtttt gggatggctt
     2461 tctagggagc aattctgaaa ttacttgaca gatacactct ttatggtaaa caggtcattt
     2521 cagagtctag agtgctaacc attacactat ggaaccatga taaataggtc atttcaaact
     2581 gatatgtcac aatgcaatat ggatagaata tgaatcccat acattcatcc ctataactgc
     2641 attttaaaat atagtctaaa tatcatggga ggaggttaaa acctgagaac atggtacaat
     2701 aagaaggaat aattttttat ctatatataa tttcaggaga agggattaaa actaccaaag
     2761 gttatttgcc actccactgc aaacatgttg cctgcaatcc tgagctcatg atttagtgtg
     2821 ttgttaagcg taattctgtt gcctcaagta aataccactt aatgctacac atttttaaac
     2881 ctttaaaagc tacagacaca agtaatgaaa ttatgagtca cttaaggggg gaggtaatat
     2941 gcttgtatgt tacattgaca ttgctctgca tgtctctact gggagatatt tggatttcaa
     3001 tgatagcttg actggttgga cattgcatca aatacacgcc ccatgtatcc tttctgtcgt
     3061 aaagttaaga acgctcttgc atttgatgtg gaataaatat agatgatatt actatctgct
     3121 attctgcctt tgttctgaaa caattgcttt gtcagctaat ttcattcaat atttgttttt
     3181 tagacgatct ctataagtta ttaatttaac ctgaaaccaa agtggtctcc atttaaagtt
     3241 acttaatccc tttgtaccac ctatttctag ttaaatatat gttgctatgc aaataggtaa
     3301 agtgcttcct tgccatgatg gtaatggatt ggaactatga aggctctcag tgtattggct
     3361 tctgtaaaga tgaggcgtct cctcagaaac aaaacttttc acatttctgc ttactagacc
     3421 tgggttgatg tacatggtaa gtctcaaaca gatgcaagct atgtgcaaaa agtaacttta
     3481 gccaaatgga aatagctgga tgctttgaga attacttggt tgaagtaaga aaactgtacc
     3541 atcctctatc ctgtgtgcca taataaaata gtaaaaaacc taaa
//
