LOCUS       NM_004082               4455 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens dynactin subunit 1 (DCTN1), transcript variant 1,
            mRNA.
ACCESSION   NM_004082
VERSION     NM_004082.5
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 4455)
  AUTHORS   Bu,W. and Su,L.K.
  TITLE     Characterization of functional domains of human EB1 family proteins
  JOURNAL   J Biol Chem 278 (50), 49721-49731 (2003)
   PUBMED   14514668
  REMARK    GeneRIF: neither APC nor p150glued binding domain is necessary for
            EB1 or EBF3 to induce microtubule bundling
REFERENCE   2  (bases 1 to 4455)
  AUTHORS   Askham,J.M., Vaughan,K.T., Goodson,H.V. and Morrison,E.E.
  TITLE     Evidence that an interaction between EB1 and p150(Glued) is
            required for the formation and maintenance of a radial microtubule
            array anchored at the centrosome
  JOURNAL   Mol Biol Cell 13 (10), 3627-3645 (2002)
   PUBMED   12388762
REFERENCE   3  (bases 1 to 4455)
  AUTHORS   Pushkin,A., Abuladze,N., Newman,D., Tatishchev,S. and Kurtz,I.
  TITLE     Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4
            and p150(Glued)
  JOURNAL   Cytogenet Cell Genet 95 (3-4), 163-168 (2001)
   PUBMED   12063394
  REMARK    GeneRIF: Genomic organization of the DCTN1-SLC4A5 locus encoding
            both NBC4 and p150(Glued).
REFERENCE   4  (bases 1 to 4455)
  AUTHORS   Tokito,M.K. and Holzbaur,E.L.
  TITLE     The genomic structure of DCTN1, a candidate gene for limb-girdle
            muscular dystrophy (LGMD2B)
  JOURNAL   Biochim Biophys Acta 1442 (2-3), 432-436 (1998)
   PUBMED   9805007
REFERENCE   5  (bases 1 to 4455)
  AUTHORS   Collin,G.B., Nishina,P.M., Marshall,J.D. and Naggert,J.K.
  TITLE     Human DCTN1: genomic structure and evaluation as a candidate for
            Alstrom syndrome
  JOURNAL   Genomics 53 (3), 359-364 (1998)
   PUBMED   9799602
REFERENCE   6  (bases 1 to 4455)
  AUTHORS   Karki,S., LaMonte,B. and Holzbaur,E.L.
  TITLE     Characterization of the p22 subunit of dynactin reveals the
            localization of cytoplasmic dynein and dynactin to the midbody of
            dividing cells
  JOURNAL   J Cell Biol 142 (4), 1023-1034 (1998)
   PUBMED   9722614
  REMARK    Erratum:[J Cell Biol 1998 Oct 19;143(2):following 560]
REFERENCE   7  (bases 1 to 4455)
  AUTHORS   Holzbaur,E.L. and Tokito,M.K.
  TITLE     Localization of the DCTN1 gene encoding p150Glued to human
            chromosome 2p13 by fluorescence in situ hybridization
  JOURNAL   Genomics 31 (3), 398-399 (1996)
   PUBMED   8838327
REFERENCE   8  (bases 1 to 4455)
  AUTHORS   Dulski,J., Konno,T. and Wszolek,Z.
  TITLE     DCTN1-Related Neurodegeneration
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20945553
REFERENCE   9  (bases 1 to 4455)
  AUTHORS   Siddique,N. and Siddique,T.
  TITLE     Amyotrophic Lateral Sclerosis Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301623
REFERENCE   10 (bases 1 to 4455)
  AUTHORS   Holzbaur,E.L., Hammarback,J.A., Paschal,B.M., Kravit,N.G.,
            Pfister,K.K. and Vallee,R.B.
  TITLE     Homology of a 150K cytoplasmic dynein-associated polypeptide with
            the Drosophila gene Glued
  JOURNAL   Nature 351 (6327), 579-583 (1991)
   PUBMED   1828535
  REMARK    Erratum:[Nature. 1992 Dec 17;360(6405):695. doi: 10.1038/360695a0.
            PMID: 1361213]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC005041.2.
            
            On Mar 17, 2020 this sequence version replaced NM_004082.4.
            
            Summary: This gene encodes the largest subunit of dynactin, a
            macromolecular complex consisting of 10 subunits ranging in size
            from 22 to 150 kD. Dynactin binds to both microtubules and
            cytoplasmic dynein. Dynactin is involved in a diverse array of
            cellular functions, including ER-to-Golgi transport, the
            centripetal movement of lysosomes and endosomes, spindle formation,
            chromosome movement, nuclear positioning, and axonogenesis. This
            subunit interacts with dynein intermediate chain by its domains
            directly binding to dynein and binds to microtubules via a highly
            conserved glycine-rich cytoskeleton-associated protein (CAP-Gly)
            domain in its N-terminus. Alternative splicing of this gene results
            in multiple transcript variants encoding distinct isoforms.
            Mutations in this gene cause distal hereditary motor neuronopathy
            type VIIB (HMN7B) which is also known as distal spinal and bulbar
            muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008].
            
            Transcript Variant: This variant (1) has multiple differences in
            the 5' UTR, 5' coding region and 3' coding region, compared to
            variant 4. These differences cause translation initiation from an
            upstream AUG and a protein (isoform 1) with a longer N-terminus
            containing a CAP-Gly domain and a longer C-terminus, compared to
            isoform 4. Isoform 1 is also called p150.
            
            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 :: BX640799.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000628224.3/ ENSP00000487279.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-307               AC005041.2         154988-155294
            308-553             AC005041.2         157054-157299
            554-632             AC005041.2         157573-157651
            633-667             AC005041.2         157833-157867
            668-688             AC005041.2         158537-158557
            689-706             AC005041.2         160959-160976
            707-727             AC005041.2         162351-162371
            728-919             AC005041.2         163571-163762
            920-1117            AC005041.2         164123-164320
            1118-1322           AC005041.2         164474-164678
            1323-1401           AC005041.2         164755-164833
            1402-1561           AC005041.2         164954-165113
            1562-1666           AC005041.2         165230-165334
            1667-1858           AC005041.2         165808-165999
            1859-1975           AC005041.2         166085-166201
            1976-2128           AC005041.2         166419-166571
            2129-2289           AC005041.2         167168-167328
            2290-2458           AC005041.2         167435-167603
            2459-2527           AC005041.2         167879-167947
            2528-2590           AC005041.2         168192-168254
            2591-2740           AC005041.2         168367-168516
            2741-2902           AC005041.2         168679-168840
            2903-3034           AC005041.2         168924-169055
            3035-3160           AC005041.2         169281-169406
            3161-3303           AC005041.2         169642-169784
            3304-3470           AC005041.2         170058-170224
            3471-3485           AC005041.2         171671-171685
            3486-3619           AC005041.2         171872-172005
            3620-3803           AC005041.2         172122-172305
            3804-3883           AC005041.2         172570-172649
            3884-3973           AC005041.2         173158-173247
            3974-4455           AC005041.2         173663-174144
FEATURES             Location/Qualifiers
     source          1..4455
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..4455
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /note="dynactin subunit 1"
                     /db_xref="GeneID:1639"
                     /db_xref="HGNC:HGNC:2711"
                     /db_xref="MIM:601143"
     exon            1..307
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            308..553
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            554..632
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            633..667
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            668..688
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            689..706
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            707..727
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            728..919
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            920..1117
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1322
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..1401
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1561
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..1666
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1667..1858
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1859..1975
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            1976..2128
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2129..2289
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2290..2458
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2459..2527
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2528..2590
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2591..2740
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2741..2902
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            2903..3034
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3035..3160
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3161..3303
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3304..3470
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3471..3485
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3486..3619
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3620..3803
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3804..3883
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3884..3973
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     exon            3974..4455
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4432..4437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /note="hexamer: ATTAAA"
     polyA_site      4455
                     /gene="DCTN1"
                     /gene_synonym="DAP-150; DP-150; HMND14; P135"
                     /note="major polyA site"
ORIGIN      
        1 agagtgagac tcatcagctg gcaagcagga ttctgtgtct ctgggttcag gaatcctcag
       61 gcagcagagg ggacttgctc ctcagccccc atcactgccc ccacccctac ccgtgtaggc
      121 caccgagtga ggcccatgga ctggggaggg ctgtgcctga cgactcctgt gtccctctat
      181 gagggcccag cgccctgacc ctcctgccta ggtttctacc ttttctctct gtctttggcc
      241 agctggggga gggggtagag gccgggtgag caacatggca cagagcaaga ggcacgtgta
      301 cagccggacg cccagcggca gcaggatgag tgcggaggca agcgcccggc ctctgcgggt
      361 gggctcccgt gtagaggtga ttggaaaagg ccaccgaggc actgtggcct atgttggagc
      421 cacactgttt gccactggca aatgggtagg cgtgattctg gatgaagcaa agggcaaaaa
      481 tgatggaact gttcaaggca ggaagtactt cacttgtgat gaagggcatg gcatctttgt
      541 gcgccagtcc cagatccagg tatttgaaga tggagcagat actacttccc cagagacacc
      601 tgattcttct gcttcaaaag tcctcaaaag agagggaact gatacaactg caaagactag
      661 caaactgcgg ggactgaagc ctaagaaggc accgacagcc cgaaagacca caactcggcg
      721 acccaagccc acgcgcccag ccagtactgg ggtggctggg gccagtagct ccctgggccc
      781 ctctggctca gcgtcagcag gtgagctgag cagcagtgag cccagcaccc cggctcagac
      841 tccgctggca gcacccatca tccccacgcc ggtcctcacc tctcctggag cagtcccccc
      901 gcttccttcc ccatccaagg aggaggaggg actaagggct caggtgcggg acctggagga
      961 gaaactagag accctgagac tgaaacgggc agaagacaaa gcaaagctaa aagagctgga
     1021 gaaacacaaa atccagctgg agcaggtgca ggaatggaag agcaaaatgc aggagcagca
     1081 ggccgacctg cagcggcgcc tcaaggaggc gagaaaggaa gccaaggagg cgctggaggc
     1141 aaaggaacgc tatatggagg agatggctga tactgctgat gccattgaga tggccacttt
     1201 ggacaaggag atggctgaag agcgggctga gtccctgcag caggaggtgg aggcactgaa
     1261 ggagcgggtg gacgagctca ctactgactt agagatcctc aaggctgaga ttgaagagaa
     1321 gggctcagat ggcgctgcat ccagttatca gctcaagcag cttgaggagc agaatgcccg
     1381 cctgaaggat gccctggtga ggatgcggga tctttcttcc tcagagaagc aggagcatgt
     1441 gaagctccag aagctcatgg aaaagaagaa ccaagagctg gaagttgtga ggcaacagcg
     1501 ggagcgtctg caggaggagc taagccaggc agagagcacc attgatgagc tcaaggagca
     1561 ggtggatgct gctctgggtg ctgaggagat ggtggagatg ctgacagatc ggaacctgaa
     1621 tctggaagag aaagtgcgcg agttgaggga gactgtggga gacttggaag cgatgaatga
     1681 gatgaacgat gagctgcagg agaatgcacg tgagacagaa ctggagctgc gggagcagct
     1741 ggacatggca ggcgcgcggg ttcgtgaggc ccagaagcgt gtggaggcag cccaggagac
     1801 ggttgcagac taccagcaga ccatcaagaa gtaccgccag ctgaccgccc atctacagga
     1861 tgtgaatcgg gaactgacaa accagcagga agcatctgtg gagaggcaac agcagccacc
     1921 tccagagacc tttgacttca aaatcaagtt tgctgagact aaggcccatg ccaaggcaat
     1981 tgagatggaa ttgaggcaga tggaggtggc ccaggccaat cgacacatgt ccctgctgac
     2041 agccttcatg cctgacagct tccttcggcc aggtggggac catgactgcg ttctggtgct
     2101 gttgctcatg cctcgtctca tttgcaaggc agagctgatc cggaagcagg cccaggagaa
     2161 gtttgaacta agtgagaact gttcagagcg gcctgggctg cgaggagctg ctggggagca
     2221 actcagcttt gctgctggac tggtgtactc gctgagcctg ctgcaggcca cgctacaccg
     2281 ctatgagcat gccctctctc agtgcagtgt ggatgtgtat aagaaagtgg gcagcctgta
     2341 ccctgagatg agtgcccatg agcgctcctt ggatttcctc attgaactgc tgcacaagga
     2401 tcagctggat gagactgtca atgtggagcc tctcaccaag gccatcaagt actatcagca
     2461 tctgtacagc atccaccttg ccgaacagcc tgaggactgt actatgcagc tggctgacca
     2521 cattaagttc acgcagagtg ctctggactg catgagtgtg gaggtaggac ggctgcgtgc
     2581 cttcttgcag ggtgggcagg aggctacaga tattgccctc ctgctccggg atctggaaac
     2641 ttcatgcagt gacatccgcc agttctgcaa gaagatccga aggcgaatgc cagggacaga
     2701 tgctcctggg atcccagctg cactggcctt tggaccacag gtatctgaca cgctcctaga
     2761 ctgcaggaaa cacttgacgt gggtcgtggc tgtgctgcag gaggtggcag ctgctgctgc
     2821 ccagctcatt gccccactgg cagagaatga ggggctactt gtggctgctc tggaggaact
     2881 ggctttcaaa gcaagcgagc agatctatgg gaccccctcc agcagcccct atgagtgtct
     2941 gcgccagtca tgcaacatcc tcatcagtac catgaacaag ctggccacag ccatgcagga
     3001 gggggagtat gatgcagagc ggccccccag caagcctcca ccggttgaac tgcgggctgc
     3061 tgcccttcgt gcagagatca cagatgctga aggcctgggt ttgaagctcg aagatcgaga
     3121 gacagttatt aaggagttga agaagtcact caagattaag ggagaggagc taagtgaggc
     3181 caatgtgcgg ctgagcctcc tggagaagaa gttggacagt gctgccaagg atgcagatga
     3241 gcgcatcgag aaagtccaga ctcggctgga ggagacccag gcactgctgc gaaagaagga
     3301 gaaagagttt gaggagacaa tggatgcact ccaggctgac atcgaccagc tggaggcaga
     3361 gaaggcagaa ctaaagcagc gtctgaacag ccagtccaaa cgcacgattg agggactccg
     3421 gggccctcct ccttcaggca ttgctactct ggtctctggc attgctggtg aagaacagca
     3481 gcgaggagcc atccctgggc aggctccagg gtctgtgcca ggcccagggc tggtgaagga
     3541 ctcaccactg ctgcttcagc agatctctgc catgaggctg cacatctccc agctccagca
     3601 tgagaacagc atcctcaagg gagcccagat gaaggcatcc ttggcatccc tgccccctct
     3661 gcatgttgca aagctatccc atgagggccc tggcagtgag ttaccagctg gagcgctgta
     3721 tcgtaagacc agccagctgc tggagacatt gaatcaattg agcacacaca cgcacgtagt
     3781 agacatcact cgcaccagcc ctgctgccaa gagcccgtcg gcccaactta tggagcaagt
     3841 ggctcagctt aagtccctga gtgacaccgt cgagaagctc aaggatgagg tcctcaagga
     3901 gacagtatct cagcgccctg gagccacagt acccactgac tttgccacct tcccttcatc
     3961 agccttcctc agggccaagg aggagcagca ggatgacaca gtctacatgg gcaaagtgac
     4021 cttctcatgt gcggctggtt ttggacagcg acaccggctg gtgctgaccc aggagcagct
     4081 gcaccagctt cacagtcgcc tcatctccta agcactcctt tcccctgctg tccccttcga
     4141 ccctcagccc tctggtgccg ctctgcccga tgcacagcca cctcagccag cccccaggta
     4201 gaaacgtggg ttaagctctt cctgccccgt tcagcttcac tcccaccctt tcagcgtcct
     4261 gccccttcac cttgacccgg gttcccccac tcccattccc tggcctctgc cataatttgt
     4321 tgttcaactg ctccctcctt cctgaggggc ctcagggctt gtggggggta ggctgagacc
     4381 ccaccaccaa aggttaagtg aggtcccctt gattgaggac ttcacccctt gattaaagca
     4441 acttctgctt cagtg
//
