LOCUS       NP_001402853            2428 aa            linear   ROD 31-MAR-2024
DEFINITION  spatacsin [Rattus norvegicus].
ACCESSION   NP_001402853 XP_006234917
VERSION     NP_001402853.1
DBSOURCE    REFSEQ: accession NM_001415924.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (residues 1 to 2428)
  AUTHORS   Varga,R.E., Khundadze,M., Damme,M., Nietzsche,S., Hoffmann,B.,
            Stauber,T., Koch,N., Hennings,J.C., Franzka,P., Huebner,A.K.,
            Kessels,M.M., Biskup,C., Jentsch,T.J., Qualmann,B., Braulke,T.,
            Kurth,I., Beetz,C. and Hubner,C.A.
  TITLE     In Vivo Evidence for Lysosome Depletion and Impaired Autophagic
            Clearance in Hereditary Spastic Paraplegia Type SPG11
  JOURNAL   PLoS Genet 11 (8), e1005454 (2015)
   PUBMED   26284655
  REMARK    Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2428)
  AUTHORS   Perez-Branguli,F., Mishra,H.K., Prots,I., Havlicek,S., Kohl,Z.,
            Saul,D., Rummel,C., Dorca-Arevalo,J., Regensburger,M., Graef,D.,
            Sock,E., Blasi,J., Groemer,T.W., Schlotzer-Schrehardt,U.,
            Winkler,J. and Winner,B.
  TITLE     Dysfunction of spatacsin leads to axonal pathology in SPG11-linked
            hereditary spastic paraplegia
  JOURNAL   Hum Mol Genet 23 (18), 4859-4874 (2014)
   PUBMED   24794856
REFERENCE   3  (residues 1 to 2428)
  AUTHORS   Murmu,R.P., Martin,E., Rastetter,A., Esteves,T., Muriel,M.P., El
            Hachimi,K.H., Denora,P.S., Dauphin,A., Fernandez,J.C.,
            Duyckaerts,C., Brice,A., Darios,F. and Stevanin,G.
  TITLE     Cellular distribution and subcellular localization of spatacsin and
            spastizin, two proteins involved in hereditary spastic paraplegia
  JOURNAL   Mol Cell Neurosci 47 (3), 191-202 (2011)
   PUBMED   21545838
REFERENCE   4  (residues 1 to 2428)
  AUTHORS   Schroder,B., Wrocklage,C., Pan,C., Jager,R., Kosters,B.,
            Schafer,H., Elsasser,H.P., Mann,M. and Hasilik,A.
  TITLE     Integral and associated lysosomal membrane proteins
  JOURNAL   Traffic 8 (12), 1676-1686 (2007)
   PUBMED   17897319
REFERENCE   5  (residues 1 to 2428)
  AUTHORS   Stevanin,G., Santorelli,F.M., Azzedine,H., Coutinho,P.,
            Chomilier,J., Denora,P.S., Martin,E., Ouvrard-Hernandez,A.M.,
            Tessa,A., Bouslam,N., Lossos,A., Charles,P., Loureiro,J.L.,
            Elleuch,N., Confavreux,C., Cruz,V.T., Ruberg,M., Leguern,E.,
            Grid,D., Tazir,M., Fontaine,B., Filla,A., Bertini,E., Durr,A. and
            Brice,A.
  TITLE     Mutations in SPG11, encoding spatacsin, are a major cause of
            spastic paraplegia with thin corpus callosum
  JOURNAL   Nat Genet 39 (3), 366-372 (2007)
   PUBMED   17322883
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            JAXUCZ010000003.1.
            
            On Jan 5, 2023 this sequence version replaced XP_006234917.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR26643297.12763.1,
                                           SRR26643284.4649.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA5760383,
                                           SAMEA5760386 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2428
                     /organism="Rattus norvegicus"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="3"
                     /map="3q35"
     Protein         1..2428
                     /product="spatacsin"
                     /note="spastic paraplegia 11 (autosomal recessive); SPG11,
                     spatacsin vesicle trafficking associated"
                     /calculated_mol_wt=273809
     Region          2080..2372
                     /region_name="Spatacsin_C"
                     /note="Spatacsin C-terminus; pfam14649"
                     /db_xref="CDD:464236"
     CDS             1..2428
                     /gene="Spg11"
                     /gene_synonym="RGD1562529"
                     /coded_by="NM_001415924.1:13..7299"
                     /db_xref="GeneID:311372"
                     /db_xref="RGD:1562529"
ORIGIN      
        1 maakpgpgsa aspgcagame rvlpmllvri paeetaqlgp raqlhrelea lgsltaagsl
       61 qvlslapgsr ggsscrlqgp frqflweesq nstsadkprv lvaredcgll iyefdlrdgr
      121 cdaallhscc grtlqklted qgvsisfksl rilsfdnsts lllineclvv rvvfpgresg
      181 igvlgclslp lpaqavdtii dvqlckrflf llstlgwihi fdtvkgmhva rvdlalpred
      241 seqqepasis sfmslkvsrd ldvlllvsss stavalnlhl yfrlhpghll cegtlqdlpi
      301 egptgidedd lvnsahnmkl tkvsfqvdrs wraqlaslne svrssepels cyppwfqgal
      361 cleslesgnh spivpnhvfi pgdvpsgqya fpqkehskts eprpwrtmhl seqeqptelt
      421 clsvtgftal fiqavgttsc tvvlwdletq smqcfslsqk ctpvdisgdq qlclalteng
      481 lslilfgltq eeflnrlmih gsastvdslc hlngwgrcsi pihaleagie nrqldtvdff
      541 lkskenlltp sskspapdqq qhfssqlylr qveemtpald llcsairesd setqskhfae
      601 qllhltlsfl nkqmrelfdh teeldehlqk gaailtsyin elrtfmikfp wkpgdaides
      661 deneevltvk egqvweelrs eeviadailn nripeaqtff ritghsaqrl eelvrigldl
      721 afdslkknsv eeasrllrnm gfsvedellk isfyttdkni rdflveilke kecfsekerr
      781 tvdfvhqaer lysghfqena pmqafprywi keqdcfkhks vldtflkcdt kdeftkqdhr
      841 ialnwahwwd rqtqecillp risseeykah spealwrhlt arhdwssisl wmeefqaqet
      901 vspqqskwpp lsaavieqnt ccsrhmrnai ldqlarcgif laseledfel lllrlsrigg
      961 vmqdalpvqs yrssagcnfd sqvilycleh glqhllyvyl dyyklspgnc pflekkelhe
     1021 ahpwleflvq crqvssnltd pklifqasla naqisiptnq asvssmlleg htllalattm
     1081 yapggvsqvi qhedsenclk kvdpqllkma ltpypklkaa lfpqctapsi lpsditlyhl
     1141 iqslppfdps rlfgwqsant laigdaagql phfsspdlvs kyavveqlsy tyylhhgrps
     1201 fafgtflvqe liksktpkql iqqvgkeayt lglssfhnps vgaacvcfle llglsslklr
     1261 vdlkmanvvl gsrrrnedah psfireslae klskladgdr atteellvll eegvwdsieq
     1321 qgfnrlsses ssqwslvlqf cmlhdmklsv sylrecakan dwlqflvhsq lhnyhpeeve
     1381 tllqyfspvl qshlklasek lssgsiskdd sclqelqknk etsdffeilh rcsdesaswc
     1441 wllaeavrhr vpilsvlasc iqgasavpcl cvwivtsved kvaaeaiehi qisvedhhws
     1501 ledlsiiwrt vltrrkihtl irgfrlfikd splllimemy elcvffknyg kakvklvefq
     1561 kslemldtva trvlpvipat wmreqvcfll klmpqqcetq yelqkvlqlf vgmeqlfsdg
     1621 pdvqklyrls qvlkdtpiti spavissyst eslqrecrsi leklkadgqf avarrvaela
     1681 slpvdglvie qltqemqmlt htqqwslkqa rldfwrkche nfkknsvsnr aassffssqa
     1741 peasehpaeq gsleerhlll tlaghwlaqe epvpveelee lekqiwlcri aqhtcggaee
     1801 etkpslsqhk lapaelssds sasefsfskl aalntskyld lnglpskemc entlehreqe
     1861 slntligqll dggcvheasr vcryfrvysq dlvlllhcra lasaeasmed lhseiralls
     1921 natlpedles pgvplrkvhs tssldslsfa mvpptdevar slqtlisrcl hgkdycrqvl
     1981 clyelakelg csygdvatrd seamlraila sqrpdrcrqa qvfintqgle pdtvaelvae
     2041 evtrelltps egagekqpfn laeesqtflq ltalcqdrtl vgmklldkip svphgelsct
     2101 tellilahhc ftcacymegi irvlqaarml tdnhlapnee yglvvrlltg igrynemtyi
     2161 fdllhqkhyf evlmrkkldp tgtlktalld yikrchpgds ekhnmialcf smcreigenh
     2221 eaaaciqlkl iesqpweesl kdgaqlkqll lkaltlmlda aesyakdscv rqalhcnrlt
     2281 klitlqihfl nsgqntmlin lghqklmdci mtlprfyqas ivaeaydfvp dwaevlyqqv
     2341 ilkgdfsyle efkqqkllkp nifediskky kqhqptdrvt enlkkllsyc ediylyykla
     2401 yehkffeivn mllkdpqtgc clkdmlag
//
