LOCUS       NM_005382               3271 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens neurofilament medium chain (NEFM), transcript variant
            1, mRNA.
ACCESSION   NM_005382
VERSION     NM_005382.2
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 3271)
  AUTHORS   Runge,K., Balla,A., Fiebich,B.L., Maier,S.J., von Zedtwitz,K.,
            Nickel,K., Dersch,R., Domschke,K., Tebartz van Elst,L. and
            Endres,D.
  TITLE     Neurodegeneration Markers in the Cerebrospinal Fluid of 100
            Patients with Schizophrenia Spectrum Disorder
  JOURNAL   Schizophr Bull 49 (2), 464-473 (2023)
   PUBMED   36200879
  REMARK    GeneRIF: Neurodegeneration Markers in the Cerebrospinal Fluid of
            100 Patients with Schizophrenia Spectrum Disorder.
REFERENCE   2  (bases 1 to 3271)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 3271)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 3271)
  AUTHORS   Li,D., Zhao,W., Zhang,X., Lv,H., Li,C. and Sun,L.
  TITLE     NEFM DNA methylation correlates with immune infiltration and
            survival in breast cancer
  JOURNAL   Clin Epigenetics 13 (1), 112 (2021)
   PUBMED   34001208
  REMARK    GeneRIF: NEFM DNA methylation correlates with immune infiltration
            and survival in breast cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3271)
  AUTHORS   Zhou,X., Lv,L., Zhang,Z., Wei,S. and Zheng,T.
  TITLE     LINC00294 negatively modulates cell proliferation in glioma through
            a neurofilament medium-mediated pathway via interacting with
            miR-1278
  JOURNAL   J Gene Med 22 (10), e3235 (2020)
   PUBMED   32450002
  REMARK    GeneRIF: LINC00294 negatively modulates cell proliferation in
            glioma through a neurofilament medium-mediated pathway via
            interacting with miR-1278.
REFERENCE   6  (bases 1 to 3271)
  AUTHORS   Ding,Y., Reed,D.R., Baltazar,M.C. and Price,R.A.
  TITLE     RFLP for BgI II at the human neurofilament medium chain (NEF3) gene
            locus
  JOURNAL   Nucleic Acids Res 20 (6), 1429 (1992)
   PUBMED   1348579
REFERENCE   7  (bases 1 to 3271)
  AUTHORS   Xu,Z.S., Liu,W.S. and Willard,M.B.
  TITLE     Identification of six phosphorylation sites in the COOH-terminal
            tail region of the rat neurofilament protein M
  JOURNAL   J Biol Chem 267 (7), 4467-4471 (1992)
   PUBMED   1537832
REFERENCE   8  (bases 1 to 3271)
  AUTHORS   Chin,T.K., Harding,S.E. and Eagles,P.A.
  TITLE     Characterization of two proteolytically derived soluble
            polypeptides from the neurofilament triplet components NFM and NFH
  JOURNAL   Biochem J 264 (1), 53-60 (1989)
   PUBMED   2557834
REFERENCE   9  (bases 1 to 3271)
  AUTHORS   Lee,V.M., Otvos,L. Jr., Carden,M.J., Hollosi,M., Dietzschold,B. and
            Lazzarini,R.A.
  TITLE     Identification of the major multiphosphorylation site in mammalian
            neurofilaments
  JOURNAL   Proc Natl Acad Sci U S A 85 (6), 1998-2002 (1988)
   PUBMED   2450354
REFERENCE   10 (bases 1 to 3271)
  AUTHORS   Myers,M.W., Lazzarini,R.A., Lee,V.M., Schlaepfer,W.W. and
            Nelson,D.L.
  TITLE     The human mid-size neurofilament subunit: a repeated protein
            sequence and the relationship of its gene to the intermediate
            filament gene family
  JOURNAL   EMBO J 6 (6), 1617-1626 (1987)
   PUBMED   3608989
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC071752.1, BC096757.1 and
            BP311096.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 28, 2007 this sequence version replaced NM_005382.1.
            
            Summary: Neurofilaments are type IV intermediate filament
            heteropolymers composed of light, medium, and heavy chains.
            Neurofilaments comprise the axoskeleton and functionally maintain
            neuronal caliber. They may also play a role in intracellular
            transport to axons and dendrites. This gene encodes the medium
            neurofilament protein. This protein is commonly used as a biomarker
            of neuronal damage. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. [provided by
            RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1660803.88845.1,
                                           SRR1803616.189930.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000221166.10/ ENSP00000221166.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BC071752.1         2-10
            10-1347             BC096757.1         1-1338
            1348-1610           BP311096.1         285-547
            1611-3271           BC096757.1         1602-3262
FEATURES             Location/Qualifiers
     source          1..3271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.2"
     gene            1..3271
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /note="neurofilament medium chain"
                     /db_xref="GeneID:4741"
                     /db_xref="HGNC:HGNC:7734"
                     /db_xref="MIM:162250"
     exon            1..1113
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..2784
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     neurofilament, medium polypeptide 150kDa; neurofilament
                     triplet M protein; neurofilament-3 (150 kD medium); 160
                     kDa neurofilament protein; neurofilament medium
                     polypeptide; neurofilament 3"
                     /codon_start=1
                     /product="neurofilament medium polypeptide isoform 1"
                     /protein_id="NP_005373.2"
                     /db_xref="CCDS:CCDS6046.1"
                     /db_xref="GeneID:4741"
                     /db_xref="HGNC:HGNC:7734"
                     /db_xref="MIM:162250"
                     /translation="MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGS
                     PSTVSSSYKRSMLAPRLAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEK
                     EQLQGLNDRFAGYIEKVHYLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRAT
                     LEMVNHEKAQVQLDSDHLEEDIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKV
                     ELDKKVQSLQDEVAFLRSNHEEEVADLLAQIQASHITVERKDYLKTDISTALKEIRSQ
                     LESHSDQNMHQAEEWFKCRYAKLTEAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESV
                     RGTKESLERQLSDIEERHNHDLSSYQDTIQQLENELRGTKWEMARHLREYQDLLNVKM
                     ALDIEIAAYRKLLEGEETRFSTFAGSITGPLYTHRPPITISSKIQKPKVEAPKLKVQH
                     KFVEEIIEETKVEDEKSEMEEALTAITEELAVSMKEEKKEAAEEKEEEPEAEEEEVAA
                     KKSPVKATAPEVKEEEGEKEEEEGQEEEEEEDEGAKSDQAEEGGSEKEGSSEKEEGEQ
                     EEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEELVADAKVEKPEKAKSPVPKSPVEE
                     KGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVSKSPVEEKAKSPV
                     PKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEKKEEKPKDVPEKKKAESPVKE
                     EAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGEGGSEEEGSDKGAKGSRKE
                     DIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPADEKKGGDKSEEKVVVTK
                     TVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKVEKVTSHAIVKEVTQ
                     SD"
     exon            1114..1238
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /inference="alignment:Splign:2.1.0"
     exon            1239..3271
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3248..3253
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /note="hexamer: AATAAA"
     polyA_site      3271
                     /gene="NEFM"
                     /gene_synonym="NEF3; NF-M; NFM"
                     /note="major polyA site"
ORIGIN      
        1 gctgtgacag ccacacgccc caaggcctcc aagatgagct acacgttgga ctcgctgggc
       61 aacccgtccg cctaccggcg ggtaaccgag acccgctcga gcttcagccg cgtcagcggc
      121 tccccgtcca gtggcttccg ctcgcagtcg tggtcccgcg gctcgcccag caccgtgtcc
      181 tcctcctata agcgcagcat gctcgccccg cgcctcgctt acagctcggc catgctcagc
      241 tccgccgaga gcagccttga cttcagccag tcctcgtccc tgctcaacgg cggctccgga
      301 cccggcggcg actacaagct gtcccgctcc aacgagaagg agcagctgca ggggctgaac
      361 gaccgctttg ccggctacat agagaaggtg cactacctgg agcagcagaa taaggagatt
      421 gaggcggaga tccaggcgct gcggcagaag caggcctcgc acgcccagct gggcgacgcg
      481 tacgaccagg agatccgcga gctgcgcgcc accctggaga tggtgaacca cgagaaggct
      541 caggtgcagc tggactcgga ccacctggag gaagacatcc accggctcaa ggagcgcttt
      601 gaggaggagg cgcggttgcg cgacgacact gaggcggcca tccgcgcgct gcgcaaagac
      661 atcgaggagg cgtcgctggt caaggtggag ctggacaaga aggtgcagtc gctgcaggat
      721 gaggtggcct tcctgcggag caaccacgag gaggaggtgg ccgaccttct ggcccagatc
      781 caggcatcgc acatcacggt ggagcgcaaa gactacctga agacagacat ctcgacggcg
      841 ctgaaggaaa tccgctccca gctcgaaagc cactcagacc agaatatgca ccaggccgaa
      901 gagtggttca aatgccgcta cgccaagctc accgaggcgg ccgagcagaa caaggaggcc
      961 atccgctccg ccaaggaaga gatcgccgag taccggcgcc agctgcagtc caagagcatc
     1021 gagctagagt cggtgcgcgg caccaaggag tccctggagc ggcagctcag cgacatcgag
     1081 gagcgccaca accacgacct cagcagctac caggacacca tccagcagct ggaaaatgag
     1141 cttcggggca caaagtggga aatggctcgt catttgcgcg aataccagga cctcctcaac
     1201 gtcaagatgg ctctggatat agaaatcgct gcgtacagaa aactcctgga gggtgaagag
     1261 actagattta gcacatttgc aggaagcatc actgggccac tgtatacaca ccgaccccca
     1321 atcacaatat ccagtaagat tcagaaaccc aaggtggaag ctcccaagct taaggtccaa
     1381 cacaaatttg tcgaggagat catagaggaa accaaagtgg aggatgagaa gtcagaaatg
     1441 gaagaggccc tgacagccat tacagaggaa ttggccgttt ccatgaagga agagaagaaa
     1501 gaagcagcag aagaaaagga agaggaaccc gaagctgaag aagaagaagt agctgccaaa
     1561 aagtctccag tgaaagcaac tgcacctgaa gttaaagaag aggaagggga aaaggaggaa
     1621 gaagaaggcc aggaagaaga ggaggaagaa gatgagggag ctaagtcaga ccaagccgaa
     1681 gagggaggat ccgagaagga aggctctagt gaaaaagagg aaggtgagca ggaagaagga
     1741 gaaacagaag ctgaagctga aggagaggaa gccgaagcta aagaggaaaa gaaagtggag
     1801 gaaaagagtg aggaagtggc taccaaggag gagctggtgg cagatgccaa ggtggaaaag
     1861 ccagaaaaag ccaagtctcc tgtgccaaaa tcaccagtgg aagagaaagg caagtctcct
     1921 gtgcccaagt caccagtgga agagaaaggc aagtctcctg tgcccaagtc accagtggaa
     1981 gagaaaggca agtctcctgt gccgaaatca ccagtggaag agaaaggcaa gtctcctgtg
     2041 tcaaaatcac cagtggaaga gaaagccaaa tctcctgtgc caaaatcacc agtggaagag
     2101 gcaaagtcaa aagcagaagt ggggaaaggt gaacagaaag aggaagaaga aaaggaagtc
     2161 aaggaagctc ccaaggaaga gaaggtagag aaaaaggaag agaaaccaaa ggatgtgcca
     2221 gagaagaaga aagctgagtc ccctgtaaag gaggaagctg tggcagaggt ggtcaccatc
     2281 accaaatcgg taaaggtgca cttggagaaa gagaccaaag aagaggggaa gccactgcag
     2341 caggagaaag agaaggagaa agcgggagga gagggaggaa gtgaggagga agggagtgat
     2401 aaaggtgcca agggatccag gaaggaagac atagctgtca atggggaggt agaaggaaaa
     2461 gaggaggtag agcaggagac caaggaaaaa ggcagtggga gggaagagga gaaaggcgtt
     2521 gtcaccaatg gcctagactt gagcccagca gatgaaaaga aggggggtga taaaagtgag
     2581 gagaaagtgg tggtgaccaa aacggtagaa aaaatcacca gtgagggggg agatggtgct
     2641 accaaataca tcactaaatc tgtaaccgtc actcaaaagg ttgaagagca tgaagagacc
     2701 tttgaggaga aactagtgtc tactaaaaag gtagaaaaag tcacttcaca cgccatagta
     2761 aaggaagtca cccagagtga ctaagatttg agtccattgc aaaaggttaa gccatatgac
     2821 aatttcaaaa tgcatgtgat tggcagcttc aaaacagaac gggttctccc atgggggctc
     2881 cagacattgt attttacttt gtgcaatatg aggggactgc atgcaagctc agggtgctcc
     2941 ctcctcagtc tttgggggat tcaaatgcat gatattgtat gtacctggga aatttgccga
     3001 tttcctaagc tgttggaagg gggtcactta aggggggatg tcttgagatg tattatgcaa
     3061 agtaccaact gagccaaaaa caataaacga aacacagaac tcagccttaa gaaagctata
     3121 tatgaataat tatgtttacc tcactggtgc atttaaaatg gacttttgtt catgggagaa
     3181 cctcgttgac atgcacagtt tgcaatctta tgttgatcga tgttaaacgt cacagcagta
     3241 cttgctcaat aaaggtcata ttggaaacat a
//
