LOCUS       NM_001413545            2585 bp    mRNA    linear   ROD 12-JUN-2024
DEFINITION  Mus musculus SPG21, maspardin (Spg21), transcript variant 3, mRNA.
ACCESSION   NM_001413545
VERSION     NM_001413545.1
KEYWORDS    RefSeq.
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 2585)
  AUTHORS   Davenport,A., Bivona,A., Latson,W., Lemanski,L.F. and Cheriyath,V.
  TITLE     Loss of Maspardin Attenuates the Growth and Maturation of Mouse
            Cortical Neurons
  JOURNAL   Neurodegener Dis 16 (3-4), 260-272 (2016)
   PUBMED   26978163
  REMARK    GeneRIF: Study showed that the loss of maspardin attenuates the
            growth, maturation, and axonal branching of cortical neurons to
            promote progressive neuronal dysfunction; impairment of sensory
            motor neurons in SPG21-/- mice; and that SPG21-/- cortical neurons
            failed to respond to EGF-induced growth and maturation, which is
            confirmed by the attenuated expression of a subset of EGFR target
            genes
REFERENCE   2  (bases 1 to 2585)
  AUTHORS   Soderblom,C., Stadler,J., Jupille,H., Blackstone,C., Shupliakov,O.
            and Hanna,M.C.
  TITLE     Targeted disruption of the Mast syndrome gene SPG21 in mice impairs
            hind limb function and alters axon branching in cultured cortical
            neurons
  JOURNAL   Neurogenetics 11 (4), 369-378 (2010)
   PUBMED   20661613
  REMARK    GeneRIF: Mast syndrome gene SPG21 in mice has a role in hind limb
            function and axon branching in cultured cortical neurons
REFERENCE   3  (bases 1 to 2585)
  AUTHORS   Hitzemann,R., Reed,C., Malmanger,B., Lawler,M., Hitzemann,B.,
            Cunningham,B., McWeeney,S., Belknap,J., Harrington,C., Buck,K.,
            Phillips,T. and Crabbe,J.
  TITLE     On the integration of alcohol-related quantitative trait loci and
            gene expression analyses
  JOURNAL   Alcohol Clin Exp Res 28 (10), 1437-1448 (2004)
   PUBMED   15597075
  REMARK    Erratum:[Alcohol Clin Exp Res. 2004 Dec;28(12):1930]
REFERENCE   4  (bases 1 to 2585)
  AUTHORS   Zeitlmann,L., Sirim,P., Kremmer,E. and Kolanus,W.
  TITLE     Cloning of ACP33 as a novel intracellular ligand of CD4
  JOURNAL   J Biol Chem 276 (12), 9123-9132 (2001)
   PUBMED   11113139
REFERENCE   5  (bases 1 to 2585)
  AUTHORS   Ko,M.S., Threat,T.A., Wang,X., Horton,J.H., Cui,Y., Wang,X.,
            Pryor,E., Paris,J., Wells-Smith,J., Kitchen,J.R., Rowe,L.B.,
            Eppig,J., Satoh,T., Brant,L., Fujiwara,H., Yotsumoto,S. and
            Nakashima,H.
  TITLE     Genome-wide mapping of unselected transcripts from extraembryonic
            tissue of 7.5-day mouse embryos reveals enrichment in the t-complex
            and under-representation on the X chromosome
  JOURNAL   Hum Mol Genet 7 (12), 1967-1978 (1998)
   PUBMED   9811942
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC114645.9.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR13422601.974891.1,
                                           SRR12282455.40056734.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849381, SAMN00849385
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-193               AC114645.9         66480-66672         c
            194-280             AC114645.9         62284-62370         c
            281-442             AC114645.9         58698-58859         c
            443-588             AC114645.9         51649-51794         c
            589-697             AC114645.9         47147-47255         c
            698-805             AC114645.9         45666-45773         c
            806-946             AC114645.9         43052-43192         c
            947-2585            AC114645.9         39163-40801         c
FEATURES             Location/Qualifiers
     source          1..2585
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 35.32 cM"
     gene            1..2585
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="SPG21, maspardin"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
     exon            1..193
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            194..280
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     CDS             218..1063
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="isoform 2 is encoded by transcript variant 3;
                     maspardin; acid cluster protein 33; spastic paraplegia 21
                     autosomal recessive Mast syndrome protein homolog; spastic
                     paraplegia 21 homolog"
                     /codon_start=1
                     /product="maspardin isoform 2"
                     /protein_id="NP_001400474.1"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
                     /translation="MGEIKVSPDYNWFRSTVPLKKIIVDDDDSKIWSLYDAGPRSIRC
                     PLIFLPPVSGTADVFFQQILALTGWGYRVIAVHLFGASLGGFLAQKFAEYTHKSPRVH
                     SLILCNAFSDTSIFNQTWTANSFWLMPAFMLKKIVLGNFSSGPVDPMMADAIDFMVDR
                     LESLGQSELASRLTLNCQNSYVEPHKIRDIPVTIMDVFDQSALSTEAKEEMYKLYPNA
                     RRAHLKTGGNFPYLCRSAEVNLYVQIHLLQFHGTKYAAIDPSVVSAEELEVQKGRLGL
                     SQEEP"
     exon            281..442
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            443..588
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            589..697
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            698..805
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            806..946
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            947..2585
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1553..1558
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      1570
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="major polyA site"
     regulatory      2564..2569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      2585
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
ORIGIN      
        1 gcagtaccaa agctgggagg cggtggcctc tggctgctcg gccgcgcgcc ccctctgccc
       61 gctgctcccg cggggctcct gatctgcggc cgccggtcca gtccgcgccc cgccgactcc
      121 atcctctgcg cccaaatcgg ggcgaagatc cgtctaggct ggaaagaaag ggacgcggga
      181 gcggccacgg cagggttaac ctctgcttct gctcatcatg ggagagatca aagtctctcc
      241 agattataat tggtttagaa gtactgttcc cctgaaaaag ataatcgtgg atgacgatga
      301 cagtaagatc tggtcgctct acgacgctgg ccccagaagc atcaggtgtc ctctcatctt
      361 tcttcctcct gtcagcggaa ctgcagatgt gtttttccag cagattctgg ctttgactgg
      421 atggggttac cgggttatag ctgttcatct gtttggggca tctttgggag gctttttggc
      481 tcaaaaattt gctgaataca ctcacaagtc tcccagggta cactccctca tcctgtgcaa
      541 tgccttcagt gacacgtcta tcttcaacca aacatggact gcaaatagct tctggttgat
      601 gccagcgttt atgctcaaga aaatcgtttt ggggaacttt tcctctggcc cagtagaccc
      661 gatgatggct gatgccattg atttcatggt ggacaggctg gagagtttgg gtcaaagtga
      721 actggcttca aggctaactc tcaactgtca gaattcctat gtggagccac ataagatccg
      781 ggacatcccc gtcaccatca tggatgtgtt tgaccagagt gcgctgtcaa cagaagccaa
      841 ggaagaaatg tacaaactgt accctaatgc gcggagagcc caccttaaga caggaggcaa
      901 ttttccctac ctgtgcagga gtgcagaggt caatctttat gtgcagatac atctgctgca
      961 gttccatgga accaagtacg ctgccatcga tccgtcagtg gtcagtgcgg aggagctaga
     1021 ggtgcagaaa ggccgcctcg gcctcagcca ggaagagcca tagatggggc ttgagatgcc
     1081 gaaccaccct gctcttgcac aatcagttcg ggttcgttgg tcgggcacac tggtcctcac
     1141 ccttctggaa gtcggactga ttgtcaatct catgacaggc gtcagctctt ctaaaccagt
     1201 gtgactggcc cctctccaca tttgtttttg ttttaaactt ttaaatttga agaactttta
     1261 aagactccca ttttaagaat tgtgaaaatt ttgctaccaa aagtcttctc cactctgttc
     1321 atctcaaaag cttgggatca tgtggcgttc tctcttttcc tgctttctat aactgctgca
     1381 cccacctcca ggttagaaga ggagcaccgg tcatttttat gctttcttgg gcataaccag
     1441 agggtcgagg ctggcagcct gctggccact ccctacacat cagctttttt gctttccagt
     1501 tgagcacatc attttgagta ttagctgttg tatttctaga cattacattt ggaataaaaa
     1561 ttgaatttca gccagtggct tctgtgatga gtgaggctgc ccctctgggc tactggccag
     1621 tgctgtgtga tgtcgggtga acaagtccat cactctgact gcagcacggc tggctgttac
     1681 ctgctgactg ccgctgtagc ctacgtgctc ttttaatctt tttcactaat gggattgtta
     1741 aaaaagagat agagtctcat ttaggctagg ctggccttga actcattatg tgtcagggct
     1801 agcttagagc tcctgatccc cctgcctcca cctcccaagt gctaggatta cagatgttat
     1861 cctgaaagat caccagatgc ccgatagaag tggttttaat acatatggag aacatagtaa
     1921 actgtctcca gctcttgatc caatgtagaa aacgtccagc ctgtggatag ccttgtctcc
     1981 ctcccgcact tttctacatc ccttcctatc ctggatggct ataaagcatt tccatgtgtc
     2041 ctttcaagag atatgatagg atacttgaga cgctggggag atgagtctgt gagtaaaagt
     2101 gcgtgctgga cgagcatgag cacttgagac cgcccagtgc ccgtgcacag tgtcaagagt
     2161 gtccaggcag cctgtaacct cagatagccc agtgcccgtg cacagagtca agagtgtcta
     2221 ggcagcctgt aacctcagat agcccagtgc tcgtgcacag tgtcaagagt gtccaggcag
     2281 cctgtaacct cagatagccc agtgcccgtg cacagtgtca agagtgtcca ggcagcctgt
     2341 aacctcagat agcccagtgc ccgtgcacag tgtcaagagt gtccacatag cctgtaacct
     2401 cagatagccc agtgcccgtg cacagtgtca agagtatcca cacagcctgt aacctcaaca
     2461 ctagctgcag ggcatccatt ctctggcatc tgcccacaca tacacagata tatacaccca
     2521 tctgtataca ggtatctata cagtaacaaa gaggttattt gataataaag gttgaaatat
     2581 ctgta
//
