LOCUS       NM_144895               3797 bp    mRNA    linear   ROD 07-OCT-2024
DEFINITION  Mus musculus spartin (Spart), transcript variant 1, mRNA.
ACCESSION   NM_144895
VERSION     NM_144895.2
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 3797)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 3797)
  AUTHORS   Chung,J., Park,J., Lai,Z.W., Lambert,T.J., Richards,R.C., Zhang,J.,
            Walther,T.C. and Farese,R.V. Jr.
  TITLE     The Troyer syndrome protein spartin mediates selective autophagy of
            lipid droplets
  JOURNAL   Nat Cell Biol 25 (8), 1101-1110 (2023)
   PUBMED   37443287
REFERENCE   3  (bases 1 to 3797)
  AUTHORS   Liang,H., Miao,H., Yang,H., Gong,F., Chen,S., Wang,L., Zhu,H. and
            Pan,H.
  TITLE     Dwarfism in Troyer syndrome: a family with SPG20 compound
            heterozygous mutations and a literature review
  JOURNAL   Ann N Y Acad Sci 1462 (1), 118-127 (2020)
   PUBMED   31535723
  REMARK    GeneRIF: Troyer syndrome with Dwarfism was diagnosed in a family
            caused by SPG20 compound heterozygous mutations.
            Review article
REFERENCE   4  (bases 1 to 3797)
  AUTHORS   Wei,K.L., Chou,J.L., Chen,Y.C., Jin,H., Chuang,Y.M., Wu,C.S. and
            Chan,M.W.Y.
  TITLE     Methylomics analysis identifies a putative STAT3 target, SPG20, as
            a noninvasive epigenetic biomarker for early detection of gastric
            cancer
  JOURNAL   PLoS One 14 (6), e0218338 (2019)
   PUBMED   31194837
  REMARK    GeneRIF: SPG20, a potential STAT3 target, is frequently methylated
            in gastric cancer, representing a novel noninvasive biomarker for
            early detection of this deadly disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3797)
  AUTHORS   Frazzi,R., Zanetti,E., Pistoni,M., Tamagnini,I., Valli,R.,
            Braglia,L. and Merli,F.
  TITLE     Methylation changes of SIRT1, KLF4, DAPK1 and SPG20 in
            B-lymphocytes derived from follicular and diffuse large B-cell
            lymphoma
  JOURNAL   Leuk Res 57, 89-96 (2017)
   PUBMED   28324774
  REMARK    GeneRIF: findings evidence a positive correlation between SIRT1 and
            BCL6 expression increase in follicular lymphomas (FL) . SIRT1
            methylation decreases in FL and diffuse large-B cell lymphomas
            (DLBCL)and this parallels the increase of KLF4, DAPK1 and SPG20
            methylation
REFERENCE   6  (bases 1 to 3797)
  AUTHORS   Renvoise,B., Stadler,J., Singh,R., Bakowska,J.C. and Blackstone,C.
  TITLE     Spg20-/- mice reveal multimodal functions for Troyer syndrome
            protein spartin in lipid droplet maintenance, cytokinesis and BMP
            signaling
  JOURNAL   Hum Mol Genet 21 (16), 3604-3618 (2012)
   PUBMED   22619377
  REMARK    GeneRIF: a role for spartin in lipid droplets maintenance and in
            the regulation of cytokinesis
REFERENCE   7  (bases 1 to 3797)
  AUTHORS   Urbanczyk,A. and Enz,R.
  TITLE     Spartin recruits PKC-zeta via the PKC-zeta-interacting proteins
            ZIP1 and ZIP3 to lipid droplets
  JOURNAL   J Neurochem 118 (5), 737-748 (2011)
   PUBMED   21707618
REFERENCE   8  (bases 1 to 3797)
  AUTHORS   Joshi,D.C. and Bakowska,J.C.
  TITLE     SPG20 protein spartin associates with cardiolipin via its
            plant-related senescence domain and regulates mitochondrial Ca2+
            homeostasis
  JOURNAL   PLoS One 6 (4), e19290 (2011)
   PUBMED   21559443
  REMARK    GeneRIF: SPG20 protein spartin associates with cardiolipin via its
            plant-related senescence domain and regulates mitochondrial Ca2+
            homeostasis
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 3797)
  AUTHORS   Bakowska,J.C., Jenkins,R., Pendleton,J. and Blackstone,C.
  TITLE     The Troyer syndrome (SPG20) protein spartin interacts with Eps15
  JOURNAL   Biochem Biophys Res Commun 334 (4), 1042-1048 (2005)
   PUBMED   16036216
  REMARK    GeneRIF: Our results suggest that spartin might be involved in
            endocytosis, vesicle trafficking, or mitogenic activity, and that
            impairment in one of these processes may underlie the long
            axonopathy in patients with Troyer syndrome.
REFERENCE   10 (bases 1 to 3797)
  AUTHORS   Okazaki,N., Kikuno,R., Ohara,R., Inamoto,S., Koseki,H., Hiraoka,S.,
            Saga,Y., Nagase,T., Ohara,O. and Koga,H.
  TITLE     Prediction of the coding sequences of mouse homologues of KIAA
            gene: III. the complete nucleotide sequences of 500 mouse
            KIAA-homologous cDNAs identified by screening of terminal sequences
            of cDNA clones randomly sampled from size-fractionated libraries
  JOURNAL   DNA Res 10 (4), 167-180 (2003)
   PUBMED   14621295
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK159951.1, AK129171.1 and BU755937.1.
            
            On Feb 3, 2009 this sequence version replaced NM_144895.1.
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a). Both variants 1 and 2 encode the same isoform.
            
            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 :: AK087388.1, SRR1660811.151045.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849381
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-2169              AK159951.1         2-2170
            2170-3406           AK129171.1         1978-3214
            3407-3797           BU755937.1         1-391               c
FEATURES             Location/Qualifiers
     source          1..3797
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="3"
                     /map="3 26.53 cM"
     gene            1..3797
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /note="spartin"
                     /db_xref="GeneID:229285"
                     /db_xref="MGI:MGI:2139806"
     exon            1..110
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            111..922
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1120
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1291
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1292..1412
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1413..1607
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1608..1766
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1767..1857
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     exon            1858..3780
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2387..2392
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /note="hexamer: AATATA"
     polyA_site      2405
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /note="major polyA site"
     regulatory      3316..3321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /note="hexamer: ATTAAA"
     polyA_site      3352
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
     regulatory      3744..3749
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
                     /note="hexamer: AATAAA"
     polyA_site      3769
                     /gene="Spart"
                     /gene_synonym="mKIAA0610; Spg20; TAHCCP1"
ORIGIN      
        1 gtggcctggg cctggctgag gccggagggt gtgtggggcc tgcagttgcg cgctctccgt
       61 gggctctcgg gctcggagcg gaccgctggc tacccgtgcg cctttggaag agatggagag
      121 agaaccagaa aatggagaac ctgctgaaat taagatcatc aaggaagcat acgagaaggc
      181 ctttatgttt gttaataaag gactgaacac ggacgagtta gggcagaagg aagaagcaaa
      241 gaactattac aagcaaggaa taggacacct gcttaggggc atcagcatcg cggctgcaga
      301 gccggggcac acaggccctg cgtgggaggc tgccaggcag atgcaacaga aaatgaagga
      361 aacgcttcag aacgtccgca ccaggctaga gatcctggag aagggccttg ccacttctct
      421 acggaatgac cttcaggatg tgcccaagct atacccagag ttcccgccta aagacgcgtg
      481 caagaagtcc ccagagcagg agtccgttag tacagcgccc cagcgtgctg aagtcgatgg
      541 gagcgcctca gccgcgtgtg ccggcccaag tggtgcgcct tctgctctgc ccgtaccatc
      601 gcccagctgc cctgccgaag cgccaccagc ctacagccca caggctgctg agggccacta
      661 cactgtttcc tatggaacag attccgggga gttttcatcc gtgggagaag acttctacag
      721 gaaccgttcc cagccgcccc ctcttgagac cttggggctc gatgcagatg agttgatctt
      781 gataccaaac ggagtgcaga tcttttttgt aaaccctgcg ggagaggtca gtgctccctc
      841 gtaccctggg tatctgcgga tcgtgcggtt cttggataat tctctggata cagttctgaa
      901 ccgccctcct gggtttctcc aggtgtgtga ctggttatac cctctagttc ctgataggtc
      961 accagttctg aagtgcactg tgggagccta catgtttcca gataccatgt tacaagctgc
     1021 tgggtgcttc gtaggggttg ttctttcatc tgagctccca gaagatgaca gagagctgtt
     1081 tgaggatctg ttgagacaga tgtctgacct tcggctccag gccaactgga atagagaaga
     1141 agatgaattc caaatccctg ggagatcaag tcacccctct gaaccaccga aggaagcttc
     1201 tggcactgat gtcaggcagt caagttcttc aggttcctca atagaccaag gcagcaagga
     1261 tgcccgccat aaaggaaagc gtgggaaaaa gaccaaagat tcaagtgaag aagttaatct
     1321 gagccagatt gtgccctgtg agccgagttc agaagaaaaa tcgaaagaat tgcctgaatg
     1381 gagcgagaaa gtggcccaca acatcctgtc aggtgcttcc tgggtgagct ggggtttagt
     1441 caaaggtgct gaatttactg gcaaagcaat tcagaaaggt gcttctaaac tcagagagcg
     1501 cattcagccg gaggaaaagc cagtggaggt gagcccagct gtcaccaggg gtctctacat
     1561 agcgaagcag gcaaccggag gagcagccaa agtcagccag ctcctggttg acggcgtctg
     1621 cacagtagcg aattgtgttg gtaaagaact tgctccacac gtcaagaagc acggaagcaa
     1681 actggttccg gaatccctga agagggacaa agacgggaaa tctgccctgg atggcgccat
     1741 ggtcgtggca gcgagtagtg ttcaaggatt ctcaactgtc tggcaagggt tggaatgtgc
     1801 agctaaatgc atcgttaaca acgtgtctgc agaaactgta cagactgtga gatacaagta
     1861 tgggcacaac gcaggagaag ctacacataa cgcagtggat tcagctatca atgttgggct
     1921 cactgcctac aatattgaca acatcggcat caaagccatg gtgaagaaaa ctgccaagca
     1981 gacgggacac actctcctcg aggactacca gatcgttgag cgccctcaga gggagagtca
     2041 gggaggagcc acaagcacag aagggagaag agacatagga aagcaggtgg aggaagagaa
     2101 gccaggggca ggaaagaagg acaaataatg agaatcctgg gagtcacctg caccaaagcc
     2161 ttagcagacg gagggtgtga gcggacggag attctccaca gaacagcgtc ttctgtctgt
     2221 tcatttctac agagtgactg ttggaagttt ggggcatgta tccacttaca aggaaaataa
     2281 tcagtgttct tacatctggc ttctaacata tgcagtttgt agtctcagta agtttatttt
     2341 cccttaaatg tggctaaact atttttgcag ttacaataaa gcttataata tatatgtggt
     2401 ttaaacctaa tgtcaaccta tttttgtatg tgctgccttc agaaagcaaa gtaggaagct
     2461 gtgcacgtga tttcacagcc acctgagttc tgggaatacc ggaaaggact taatgtcgac
     2521 tgacgccttc cttttgcact aattgtggct cttttgagat gcccaacagg attttcagca
     2581 gataagctaa acaaaactgt gatcttaaag tttgttctca gataatgctt tagaactctt
     2641 tctccaacag ggatgagctt ggtcatgaaa gtgccttgac gctctgcaat gttcctctta
     2701 ttcgctagct cttctgccta ctaggaaacc aaaatggcct tgcgatttaa acggaagaaa
     2761 tgcttcttta agtctttatg actgaggcta gggaattttt tgatagaatg aatttttatg
     2821 aattctttga gaattttgta catgcataaa tgtgttttga ttgtatcccc ccacactccc
     2881 caactcctcc caggtccaca cctccctctt ccaacctcat gttcttttgt gcgtttgttt
     2941 taaatagtcc agtgtgtgct gcccgtatgc tcatgggtgt gggaccatcc actgcaggtt
     3001 ggttcatcct ccagggacca tgctcctcaa gaaaactgac atcttgttcc ccagaagcca
     3061 tcaactgtca atagcccccc agctaggccg ggggcttgtg agaccctgcc cactgcaggc
     3121 tggggtgttg actggtttga tcctgtggaa gtggcctcag ctgccgtgtg tgtaagggtc
     3181 ctgtcatgcc cagaagatgt gagtttatcc acgcctcctg gacttctgac tcttggccat
     3241 tccactcccc atcctccatg ttccctgggc tttatggagg tagactaagg aatgttgaac
     3301 tatgatttgt attctattaa aatttgaatt gattgttact ggcactaaga aatcactttt
     3361 ccatatctgc ttctgtaagg ttttcctaaa tttctagaaa gtaaaacaca aacattgcac
     3421 ttactaagtg taatatatct ccactcagtc attacaattt atactgaaag ccagaagtga
     3481 tgggaggagc ctgtccatac cacagggaag aatatggaac ccttggtggg gagccccaac
     3541 ttttgcagaa tacaggacag acatttgccc attttctttt aagttacaaa tatgtaatta
     3601 aatactccat ggtattttat ttctattaat tttaaaaggt tgatattggt ttttatagtt
     3661 ttggcctatt gtaatcattt ctgaacctgt agttgactag cttatgaatt tcatttgaaa
     3721 ctggttaatg aatgtgcttt gagaataaaa tggtttttga attgctgggc ctcagatgta
     3781 aaaaaaaaaa aaaaaaa
//
