LOCUS       NM_178628               2818 bp    mRNA    linear   ROD 10-FEB-2025
DEFINITION  Mus musculus atlastin GTPase 1 (Atl1), mRNA.
ACCESSION   NM_178628
VERSION     NM_178628.5
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 2818)
  AUTHORS   Zhu,P.P., Hung,H.F., Batchenkova,N., Nixon-Abell,J., Henderson,J.,
            Zheng,P., Renvoise,B., Pang,S., Xu,C.S., Saalfeld,S., Funke,J.,
            Xie,Y., Svara,F., Hess,H.F. and Blackstone,C.
  TITLE     Transverse endoplasmic reticulum expansion in hereditary spastic
            paraplegia corticospinal axons
  JOURNAL   Hum Mol Genet 31 (16), 2779-2795 (2022)
   PUBMED   35348668
  REMARK    GeneRIF: Transverse endoplasmic reticulum expansion in hereditary
            spastic paraplegia corticospinal axons.
REFERENCE   2  (bases 1 to 2818)
  AUTHORS   Zhao,G., Zhu,P.P., Renvoise,B., Maldonado-Baez,L., Park,S.H. and
            Blackstone,C.
  TITLE     Mammalian knock out cells reveal prominent roles for atlastin
            GTPases in ER network morphology
  JOURNAL   Exp Cell Res 349 (1), 32-44 (2016)
   PUBMED   27669642
  REMARK    GeneRIF: Endoplasmic reticulum morphology is markedly disrupted in
            ATL1, ATL2, and ATL3 knockout cells.
REFERENCE   3  (bases 1 to 2818)
  AUTHORS   Shih,Y.T. and Hsueh,Y.P.
  TITLE     VCP and ATL1 regulate endoplasmic reticulum and protein synthesis
            for dendritic spine formation
  JOURNAL   Nat Commun 7, 11020 (2016)
   PUBMED   26984393
  REMARK    GeneRIF: VCP (valosin-containing protein), together with its
            cofactor P47 and the endoplasmic reticulum (ER) morphology
            regulator ATL1 (Atlastin-1), regulates tubular ER formation
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2818)
  AUTHORS   Rinaldi,C., Schmidt,T., Situ,A.J., Johnson,J.O., Lee,P.R.,
            Chen,K.L., Bott,L.C., Fado,R., Harmison,G.H., Parodi,S.,
            Grunseich,C., Renvoise,B., Biesecker,L.G., De Michele,G.,
            Santorelli,F.M., Filla,A., Stevanin,G., Durr,A., Brice,A.,
            Casals,N., Traynor,B.J., Blackstone,C., Ulmer,T.S. and
            Fischbeck,K.H.
  TITLE     Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic
            Paraplegia
  JOURNAL   JAMA Neurol 72 (5), 561-570 (2015)
   PUBMED   25751282
  REMARK    Erratum:[JAMA Neurol. 2015 May;72(5):608. doi:
            10.1001/jamaneurol.2015.0528.. PMID: 25961183]
REFERENCE   5  (bases 1 to 2818)
  AUTHORS   Hashimoto,Y., Shirane,M., Matsuzaki,F., Saita,S., Ohnishi,T. and
            Nakayama,K.I.
  TITLE     Protrudin regulates endoplasmic reticulum morphology and function
            associated with the pathogenesis of hereditary spastic paraplegia
  JOURNAL   J Biol Chem 289 (19), 12946-12961 (2014)
   PUBMED   24668814
REFERENCE   6  (bases 1 to 2818)
  AUTHORS   Balasubramanian,S., Quinones,L., Kasiganesan,H., Zhang,Y.,
            Pleasant,D.L., Sundararaj,K.P., Zile,M.R., Bradshaw,A.D. and
            Kuppuswamy,D.
  TITLE     beta3 integrin in cardiac fibroblast is critical for extracellular
            matrix accumulation during pressure overload hypertrophy in mouse
  JOURNAL   PLoS One 7 (9), e45076 (2012)
   PUBMED   22984613
REFERENCE   7  (bases 1 to 2818)
  AUTHORS   Botzolakis,E.J., Zhao,J., Gurba,K.N., Macdonald,R.L. and Hedera,P.
  TITLE     The effect of HSP-causing mutations in SPG3A and NIPA1 on the
            assembly, trafficking, and interaction between atlastin-1 and NIPA1
  JOURNAL   Mol Cell Neurosci 46 (1), 122-135 (2011)
   PUBMED   20816793
REFERENCE   8  (bases 1 to 2818)
  AUTHORS   Hu,J., Shibata,Y., Zhu,P.P., Voss,C., Rismanchi,N., Prinz,W.A.,
            Rapoport,T.A. and Blackstone,C.
  TITLE     A class of dynamin-like GTPases involved in the generation of the
            tubular ER network
  JOURNAL   Cell 138 (3), 549-561 (2009)
   PUBMED   19665976
REFERENCE   9  (bases 1 to 2818)
  AUTHORS   Bulfone,A., Carotenuto,P., Faedo,A., Aglio,V., Garzia,L.,
            Bello,A.M., Basile,A., Andre,A., Cocchia,M., Guardiola,O.,
            Ballabio,A., Rubenstein,J.L. and Zollo,M.
  TITLE     Telencephalic embryonic subtractive sequences: a unique collection
            of neurodevelopmental genes
  JOURNAL   J Neurosci 25 (33), 7586-7600 (2005)
   PUBMED   16107646
REFERENCE   10 (bases 1 to 2818)
  AUTHORS   Zhao,X., Alvarado,D., Rainier,S., Lemons,R., Hedera,P., Weber,C.H.,
            Tukel,T., Apak,M., Heiman-Patterson,T., Ming,L., Bui,M. and
            Fink,J.K.
  TITLE     Mutations in a newly identified GTPase gene cause autosomal
            dominant hereditary spastic paraplegia
  JOURNAL   Nat Genet 29 (3), 326-331 (2001)
   PUBMED   11685207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CX236218.1, AK050339.1,
            AK046919.1 and AC166827.2.
            
            On Feb 18, 2010 this sequence version replaced NM_178628.4.
            
            Summary: This gene encodes a member of the dynamin family of
            GTPases. The encoded protein interacts with tubule-shaping proteins
            of the endoplasmic reticulum. Mutations in the homologous human
            gene can cause hereditary spastic paraplegia. [provided by RefSeq,
            Feb 2010].
            
            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 :: AK050339.1, SRR14995047.911928.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849380, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-164               CX236218.1         1-164
            165-2764            AK050339.1         2-2601
            2765-2816           AK046919.1         2495-2546
            2817-2818           AC166827.2         191475-191476
FEATURES             Location/Qualifiers
     source          1..2818
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="12"
                     /map="12 28.94 cM"
     gene            1..2818
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="atlastin GTPase 1"
                     /db_xref="GeneID:73991"
                     /db_xref="MGI:MGI:1921241"
     exon            1..240
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            241..428
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     CDS             395..2071
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="spastic paraplegia 3A homolog"
                     /codon_start=1
                     /product="atlastin-1"
                     /protein_id="NP_848743.1"
                     /db_xref="CCDS:CCDS36465.1"
                     /db_xref="GeneID:73991"
                     /db_xref="MGI:MGI:1921241"
                     /translation="MAKSRRDRNSWGGFSEKSSDWSSEEEEPVRKAGPVQVLIVKDDH
                     SFELDEAALNRILLSQAVRDKEVVAVSVAGAFRKGKSFLMDFMLRYMYNQESVDWVGD
                     YNEPLTGFSWRGGSERETTGIQIWSEVFLINKLDGKKVAVLLMDTQGTFDSQSTLRDS
                     ATVFALSTMISSIQVYNLSQNVQEDDLQHLQLFTEYGRLAMEETFLKPFQSLIFLVRD
                     WSFPYEFSYGADGGAKFLEKRLKVSGNQHEELQNVRKHIHSCFTNISCFLLPHPGLKV
                     ATNPNFDGKLKEIDDEFIKNLKILIPWLLSPERLDIKEINGNKITCRGLLEYFKAYIK
                     IYQGEELPHPKSMLQATAEANNLAAVATAKDTYNKKMEEVCGGDKPFLAPNDLQSKHL
                     QLKEESVKLFRGVKKMGGEEFSRRYLQQLESEIDELYIQYIKHNDSKNIFHAARTPAT
                     LFVVIFITYVIAGVTGFIGLDIIASLCNMIMGLTLITLCTWAYIRYSGEYRELGAVID
                     QVAAALWDQGSTNEALYKLYSAAATHRHLCHQAFPAPKSEPTQQPEKKKI"
     exon            429..676
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            677..811
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            812..916
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            917..967
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            968..1024
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1117
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1256
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1257..1384
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1441
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1442..1513
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1514..1945
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1946..1960
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2818
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2366..2371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="hexamer: ATTAAA"
     polyA_site      2386
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
     regulatory      2734..2739
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="hexamer: ATTAAA"
     regulatory      2757..2762
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="hexamer: ATTAAA"
     polyA_site      2762
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
                     /note="major polyA site"
     polyA_site      2788
                     /gene="Atl1"
                     /gene_synonym="4930435M24Rik; Adfsp; Fsp1; Spg3; Spg3a"
ORIGIN      
        1 ctggcccgcc cgagaacgca ggccgcgggc ccagactgcc gccctgaggc ccgccgagtg
       61 cacaacaccc tggacgccgc cgcgccccgc ctcccagctg cttgcggggc gccggaggcg
      121 ttcgtgcggc gtctgacccg cccagcctcg gccaggattc gcccagtggc cggcggacta
      181 gaggaggagg gtctgtccgc aggcctccgg agcgctgcct tctgcttcct ttcggtacag
      241 tccttcccac cagcgccaca gcaacatcct cagaatctga gcgaactgcg cccagaacgg
      301 gcacagagcc tcttaactgc cagaaacctg cggggccctg gagaagaccg caagagcagt
      361 gacagcgcct cgccacacca gcccacagac cgccatggct aagagccgca gggacagaaa
      421 cagttggggt gggttttcag agaagtcaag tgactggagc tcagaagagg aggagccagt
      481 gagaaaggca gggcctgtcc aggtcctcat cgtcaaggac gaccattcct ttgagttaga
      541 cgaggctgcg ctgaaccgca tccttctgtc ccaggccgtc agagacaagg aggtggttgc
      601 tgtgtctgtt gctggagcct ttagaaaagg gaaatccttc ctgatggact tcatgttgcg
      661 gtacatgtac aaccaggaat ctgttgattg ggttggagat tacaatgaac cattgactgg
      721 attttcatgg aggggtggat cggaacgaga aaccacagga atccagatat ggagtgaagt
      781 tttcctcatc aataagcttg atggtaaaaa ggttgcagtg ttactgatgg atactcaggg
      841 aacctttgac agtcagtcaa ctttgagaga ttcggccaca gtatttgcgc ttagcacaat
      901 gataagctca atacaggtct acaacttgtc ccagaatgtc caggaggatg atctccagca
      961 cctgcagctt ttcactgagt atggcaggtt ggcaatggaa gaaacattcc tgaagccttt
     1021 tcagagtctg atatttcttg ttcgagactg gagtttccca tacgaatttt catatggagc
     1081 tgatggtggc gccaagttct tggaaaaacg cctcaaggtc tcagggaacc agcatgaaga
     1141 gctgcagaac gtcaggaagc acatccactc ctgcttcacc aacatttcct gctttctcct
     1201 acctcatcct ggcttaaaag tcgctaccaa cccaaacttt gatgggaaac taaaagaaat
     1261 agatgatgaa ttcatcaaaa acttgaaaat actgattcca tggctcctga gtcctgagcg
     1321 tctagatatt aaagagatca atgggaataa aatcacctgc cgaggcctgc tggagtactt
     1381 caaggcatac ataaagatat accaaggtga agaattgccg catcccaagt ccatgttaca
     1441 ggccacagca gaagctaaca atttagcagc tgttgcaact gccaaggaca catacaacaa
     1501 gaagatggaa gaggtttgtg gtggtgataa accatttttg gcccctaacg acctgcaaag
     1561 caagcacctg cagctaaaag aagaatctgt gaagttattc cgaggcgtga agaagatggg
     1621 cggggaagag ttcagccggc gttacctgca gcagctggag agtgaaatag atgaactcta
     1681 catccagtat attaagcaca atgacagcaa aaatatcttc catgctgctc gaaccccagc
     1741 cacactgttc gttgtcatct ttatcacata cgtgattgct ggtgtgactg gattcattgg
     1801 tttggacatc atagctagcc tgtgcaacat gatcatggga ctgacgctta tcaccctctg
     1861 cacctgggca tatatccgct actctggcga atatcgagag ctgggtgctg taatcgacca
     1921 ggtagctgca gctttgtggg accagggaag cacaaatgag gcgttataca agctttacag
     1981 tgcagcagca acccacagac acctgtgtca ccaagctttc cctgcaccca agtcagagcc
     2041 tactcaacaa ccggaaaaga agaaaattta atctaaaaac atgcaggtgc atgaccgttt
     2101 gtcagctaac tatcaaagct tttgtttcca tgcaaacatg caaagtgctt cctttagagt
     2161 gaaacccaaa cacccgaccg aggactcgga cagtttactt ctttactcca gtgtttaatg
     2221 agcagatgta tgtatgcatg gttatttgtc aatgtgcagt ttcctcattt ctgtctttaa
     2281 atatgctatt atcatttcag gtatttgtaa atttgaggat agatttgttc tgcttgactt
     2341 ttctaagttc tactactggg ttataattaa atattgtgta gtattactct gggtttggat
     2401 atgctcattt gatttctata gaaaatttaa gttattttac atagctattt gttaaagcac
     2461 agtataactt ggcaggcttg attttaatct atataatatt atacatacca caggctctta
     2521 ccttgaaaca tatttgagag cttaaaagtt gctttaccaa aaactataca ttgtttcttt
     2581 tatatcttta tgaatataga atgtaaatct cttgatcaaa aatgcacaaa aattgttttg
     2641 tacatgtgtt tgagtttcac tgcactgtat attttttcat ttggtacacc acaaatgtat
     2701 tcttcatagg tttattcttt taatatgtga actattaaac tttactgttt cctaacatta
     2761 aaccaaatgc tcactggctc tagaactact tgggaggtct ggtgtggcat gaaaggtc
//
