LOCUS       NM_004408               3217 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.
ACCESSION   NM_004408
VERSION     NM_004408.4
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 3217)
  AUTHORS   Pierga,A., Matusiak,R., Cauhape,M., Branchu,J., Danglot,L.,
            Boutry,M. and Darios,F.
  TITLE     Spatacsin regulates directionality of lysosome trafficking by
            promoting the degradation of its partner AP5Z1
  JOURNAL   PLoS Biol 21 (10), e3002337 (2023)
   PUBMED   37871017
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3217)
  AUTHORS   Parthasarathy,S., Ruggiero,S.M., Gelot,A., Soardi,F.C.,
            Ribeiro,B.F.R., Pires,D.E.V., Ascher,D.B., Schmitt,A., Rambaud,C.,
            Represa,A., Xie,H.M., Lusk,L., Wilmarth,O., McDonnell,P.P.,
            Juarez,O.A., Grace,A.N., Buratti,J., Mignot,C., Gras,D., Nava,C.,
            Pierce,S.R., Keren,B., Kennedy,B.C., Pena,S.D.J., Helbig,I. and
            Cuddapah,V.A.
  TITLE     A recurrent de novo splice site variant involving DNM1 exon 10a
            causes developmental and epileptic encephalopathy through a
            dominant-negative mechanism
  JOURNAL   Am J Hum Genet 109 (12), 2253-2269 (2022)
   PUBMED   36413998
  REMARK    GeneRIF: A recurrent de novo splice site variant involving DNM1
            exon 10a causes developmental and epileptic encephalopathy through
            a dominant-negative mechanism.
REFERENCE   3  (bases 1 to 3217)
  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   4  (bases 1 to 3217)
  AUTHORS   Sun,E.W., Matusica,D., Wattchow,D.A., McCluskey,A., Robinson,P.J.
            and Keating,D.J.
  TITLE     Dynamin regulates L cell secretion in human gut
  JOURNAL   Mol Cell Endocrinol 535, 111398 (2021)
   PUBMED   34274446
  REMARK    GeneRIF: Dynamin regulates L cell secretion in human gut.
REFERENCE   5  (bases 1 to 3217)
  AUTHORS   Liu,J., Alvarez,F.J.D., Clare,D.K., Noel,J.K. and Zhang,P.
  TITLE     CryoEM structure of the super-constricted two-start dynamin 1
            filament
  JOURNAL   Nat Commun 12 (1), 5393 (2021)
   PUBMED   34518553
  REMARK    GeneRIF: CryoEM structure of the super-constricted two-start
            dynamin 1 filament.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3217)
  AUTHORS   Timm,D., Salim,K., Gout,I., Guruprasad,L., Waterfield,M. and
            Blundell,T.
  TITLE     Crystal structure of the pleckstrin homology domain from dynamin
  JOURNAL   Nat Struct Biol 1 (11), 782-788 (1994)
   PUBMED   7634088
REFERENCE   7  (bases 1 to 3217)
  AUTHORS   Ferguson,K.M., Lemmon,M.A., Schlessinger,J. and Sigler,P.B.
  TITLE     Crystal structure at 2.2 A resolution of the pleckstrin homology
            domain from human dynamin
  JOURNAL   Cell 79 (2), 199-209 (1994)
   PUBMED   7954789
REFERENCE   8  (bases 1 to 3217)
  AUTHORS   Downing,A.K., Driscoll,P.C., Gout,I., Salim,K., Zvelebil,M.J. and
            Waterfield,M.D.
  TITLE     Three-dimensional solution structure of the pleckstrin homology
            domain from dynamin
  JOURNAL   Curr Biol 4 (10), 884-891 (1994)
   PUBMED   7850421
REFERENCE   9  (bases 1 to 3217)
  AUTHORS   van der Bliek,A.M., Redelmeier,T.E., Damke,H., Tisdale,E.J.,
            Meyerowitz,E.M. and Schmid,S.L.
  TITLE     Mutations in human dynamin block an intermediate stage in coated
            vesicle formation
  JOURNAL   J Cell Biol 122 (3), 553-563 (1993)
   PUBMED   8101525
REFERENCE   10 (bases 1 to 3217)
  AUTHORS   Obar,R.A., Collins,C.A., Hammarback,J.A., Shpetner,H.S. and
            Vallee,R.B.
  TITLE     Molecular cloning of the microtubule-associated mechanochemical
            enzyme dynamin reveals homology with a new family of GTP-binding
            proteins
  JOURNAL   Nature 347 (6290), 256-261 (1990)
   PUBMED   2144893
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA221568.1, BC050279.1,
            BC063850.1 and AI660320.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_004408.3.
            
            Summary: This gene encodes a member of the dynamin subfamily of
            GTP-binding proteins. The encoded protein possesses unique
            mechanochemical properties used to tubulate and sever membranes,
            and is involved in clathrin-mediated endocytosis and other
            vesicular trafficking processes. Actin and other cytoskeletal
            proteins act as binding partners for the encoded protein, which can
            also self-assemble leading to stimulation of GTPase activity. More
            than sixty highly conserved copies of the 3' region of this gene
            are found elsewhere in the genome, particularly on chromosomes Y
            and 15. Alternatively spliced transcript variants encoding
            different isoforms have been described. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1). Isoform 1 has been referred to as internal form 1 and the long
            C-terminal form.
            
            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 :: L07807.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154125
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372923.8/ ENSP00000362014.4
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA221568.1         25-29
            6-82                BC050279.1         6-82
            83-1099             BC063850.1         40-1056
            1100-2516           BC050279.1         1100-2516
            2517-2626           BC063850.1         2474-2583
            2627-3203           BC063850.1         2621-3197
            3204-3217           AI660320.1         36-49               c
FEATURES             Location/Qualifiers
     source          1..3217
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3217
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /note="dynamin 1"
                     /db_xref="GeneID:1759"
                     /db_xref="HGNC:HGNC:2972"
                     /db_xref="MIM:602377"
     exon            1..253
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     CDS             93..2687
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /EC_number="3.6.5.5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dynamin I"
                     /codon_start=1
                     /product="dynamin-1 isoform 1"
                     /protein_id="NP_004399.2"
                     /db_xref="CCDS:CCDS6895.1"
                     /db_xref="GeneID:1759"
                     /db_xref="HGNC:HGNC:2972"
                     /db_xref="MIM:602377"
                     /translation="MGNRGMEDLIPLVNRLQDAFSAIGQNADLDLPQIAVVGGQSAGK
                     SSVLENFVGRDFLPRGSGIVTRRPLVLQLVNATTEYAEFLHCKGKKFTDFEEVRLEIE
                     AETDRVTGTNKGISPVPINLRVYSPHVLNLTLVDLPGMTKVPVGDQPPDIEFQIRDML
                     MQFVTKENCLILAVSPANSDLANSDALKVAKEVDPQGQRTIGVITKLDLMDEGTDARD
                     VLENKLLPLRRGYIGVVNRSQKDIDGKKDITAALAAERKFFLSHPSYRHLADRMGTPY
                     LQKVLNQQLTNHIRDTLPGLRNKLQSQLLSIEKEVEEYKNFRPDDPARKTKALLQMVQ
                     QFAVDFEKRIEGSGDQIDTYELSGGARINRIFHERFPFELVKMEFDEKELRREISYAI
                     KNIHGIRTGLFTPDMAFETIVKKQVKKIREPCLKCVDMVISELISTVRQCTKKLQQYP
                     RLREEMERIVTTHIREREGRTKEQVMLLIDIELAYMNTNHEDFIGFANAQQRSNQMNK
                     KKTSGNQDEILVIRKGWLTINNIGIMKGGSKEYWFVLTAENLSWYKDDEEKEKKYMLS
                     VDNLKLRDVEKGFMSSKHIFALFNTEQRNVYKDYRQLELACETQEEVDSWKASFLRAG
                     VYPERVGDKEKASETEENGSDSFMHSMDPQLERQVETIRNLVDSYMAIVNKTVRDLMP
                     KTIMHLMINNTKEFIFSELLANLYSCGDQNTLMEESAEQAQRRDEMLRMYHALKEALS
                     IIGDINTTTVSTPMPPPVDDSWLQVQSVPAGRRSPTSSPTPQRRAPAVPPARPGSRGP
                     APGPPPAGSALGGAPPVPSRPGASPDPFGPPPQVPSRPNRAPPGVPSRSGQASPSRPE
                     SPRPPFDL"
     exon            254..327
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            328..477
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            478..681
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            682..780
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            781..941
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            942..1084
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1220
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1221..1288
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1289..1427
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1428..1514
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..1585
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1637
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1638..1649
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1650..1763
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1764..1873
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1874..1985
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1986..1997
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2168
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            2169..2410
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            2411..2626
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     exon            2627..3217
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3189..3194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /note="hexamer: AATAAA"
     polyA_site      3217
                     /gene="DNM1"
                     /gene_synonym="DEE31; DEE31A; DEE31B; DNM; EIEE31"
                     /note="major polyA site"
ORIGIN      
        1 agtctgggcg cgcggctgca gcggcggagc cggagtcgga gccgggagcg ctagcggcag
       61 ccggatcgca gcctgcgggg cccgccgcag ccatgggcaa ccgcggcatg gaagatctca
      121 tcccgctggt caaccggctg caagacgcct tctctgccat cggccagaac gcggacctcg
      181 acctgccgca gatcgctgtg gtgggcggcc agagcgccgg caagagctcg gtgctcgaga
      241 atttcgtagg cagggacttc ttgcctcgag gatctggcat tgtcacccga cgtcccctgg
      301 tcttgcagct ggtcaatgca accacagaat atgccgagtt cctgcactgc aagggaaaga
      361 aattcaccga cttcgaggag gtgcgccttg agatcgaggc cgagaccgac agggtcaccg
      421 gcaccaacaa gggcatctcg ccggtgccta tcaacctccg cgtctactcg ccgcacgtgc
      481 tgaacctgac cctggtggac ctgcccggaa tgaccaaggt cccggtgggg gaccaacctc
      541 ccgacatcga gttccagatc cgagacatgc ttatgcagtt tgtcaccaag gagaactgcc
      601 tcatcctggc cgtgtccccc gccaactctg acctggccaa ttctgacgcc ctcaaggtcg
      661 ccaaggaggt ggacccccag ggccagcgca ccatcggggt catcaccaag ctggacctga
      721 tggacgaggg cacagatgcc cgtgatgtgc tggagaacaa gctgctcccc ctgcgcagag
      781 gctacattgg agtggtgaac cggagccaga aggacattga tggcaagaag gacattaccg
      841 ccgccttggc tgctgaacga aagttcttcc tctcccatcc atcttatcgc cacttggctg
      901 accgtatggg cacgccctac ctgcagaagg tcctcaatca gcaactgacg aaccacatcc
      961 gggacacact gccggggctg cggaacaagc tgcagagcca gctactgtcc attgagaagg
     1021 aggtggagga atacaagaac ttccgccctg atgacccagc tcgcaagacc aaggccctgc
     1081 tgcagatggt ccagcagttc gccgtagact ttgagaagcg cattgagggc tcaggagatc
     1141 agatcgacac ctacgaactg tcagggggag cccgcattaa ccgaatcttc cacgagcgct
     1201 tccctttcga gctggtcaag atggagtttg atgagaagga actccgaagg gagatcagct
     1261 atgctatcaa gaatatccat ggcattagaa cggggctgtt taccccagac atggcctttg
     1321 agaccattgt gaaaaagcag gtgaagaaga tccgagaacc gtgtctcaag tgtgtggaca
     1381 tggttatctc ggagctaatc agcaccgtta gacagtgcac caagaagctc cagcagtacc
     1441 cgcggctacg ggaggagatg gagcgcatcg tgaccaccca catccgggag cgcgagggcc
     1501 gcactaagga gcaggtcatg cttctcatcg atatcgagct ggcttacatg aacaccaacc
     1561 atgaggactt cataggcttt gccaatgctc agcagaggag caaccagatg aacaagaaga
     1621 agacttcagg gaaccaggat gagattctgg tcatccgcaa gggctggctg actatcaata
     1681 atattggcat catgaaaggg ggctccaagg agtactggtt tgtgctgact gctgagaatc
     1741 tgtcctggta caaggatgat gaggagaaag agaagaaata catgctgtct gtggacaacc
     1801 tcaagctgcg ggacgtggag aagggcttta tgtcgagcaa gcatatcttt gccctcttta
     1861 acacggagca gaggaatgtc tacaaggatt atcggcagct ggagctagcc tgtgagacac
     1921 aggaggaggt ggacagctgg aaggcctcct tcctgagggc tggcgtgtac cctgagcgtg
     1981 ttggggacaa agagaaagcc agcgagaccg aggagaatgg ctccgacagc ttcatgcatt
     2041 ccatggaccc acagctggaa cggcaagtgg agaccatccg gaatcttgtg gactcataca
     2101 tggccattgt caacaagacc gtgagggacc tcatgcccaa gaccatcatg cacctcatga
     2161 ttaacaatac caaggagttc atcttctcgg agctgctggc caacctgtac tcgtgtgggg
     2221 accagaacac gctgatggag gagtcggcgg agcaggcaca gcggcgcgac gagatgctgc
     2281 gcatgtacca cgcactgaag gaggcgctca gcatcatcgg cgacatcaac acgaccaccg
     2341 tcagcacgcc catgcccccg cccgtggacg actcctggct gcaggtgcag agcgtaccgg
     2401 ccggacgcag gtcgcccacg tccagcccca cgccgcagcg ccgagccccc gccgtgcccc
     2461 cagcccggcc cgggtcgcgg ggccctgctc ctgggcctcc gcctgctggg tccgccctgg
     2521 ggggggcgcc ccccgtgccc tccaggccgg gggcttcccc tgaccctttc ggccctcccc
     2581 ctcaggtgcc ctcgcgcccc aaccgcgccc cgcccggggt ccccagccga tcgggtcagg
     2641 caagtccatc ccgtcctgag agccccaggc cccccttcga cctctaaaca gatccctcct
     2701 cttctcggag acctcccttt ccaagcctgc ctggacggct gttctgtgac ttgacagtgg
     2761 ctcccccagc cccaaagcca gcccccttca tctgtgactt aatctgttgt agtggtgagc
     2821 tgatacattc aggtgtgacc gttggtgaaa acttgtgccc cttctgtggt atgcccttgc
     2881 cctgttctat aaatatctat aaatactcat atatatacac acctacacat ggccaaccgc
     2941 ctcgcctcta gcgctgggaa tcagtcactg tgctatcctt gtggagtctt gtggcccaac
     3001 taccagagaa cgctgtcccc cgacatccca ctccaaagtg tgccacctcc agtgagcctc
     3061 cttgtcatgc ccggcctgtg gacagccagc ccccgccatc cctcccaccc cctaccaagc
     3121 atgggggtgc tgtgcaggca gccgtgtggc ctgacagttt ctaccagtcc tgctgtccct
     3181 cggctgagaa taaaacccat ttctggatga tggggaa
//
