LOCUS       NM_001413549            2381 bp    mRNA    linear   ROD 12-JUN-2024
DEFINITION  Mus musculus SPG21, maspardin (Spg21), transcript variant 7, mRNA.
ACCESSION   NM_001413549
VERSION     NM_001413549.1
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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 2381)
  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 :: SRR5189673.28564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164133, SAMN01164135
                                           [ECO:0000348]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AC114645.9         64730-64799         c
            71-157              AC114645.9         62284-62370         c
            158-238             AC114645.9         53916-53996         c
            239-384             AC114645.9         51649-51794         c
            385-493             AC114645.9         47147-47255         c
            494-601             AC114645.9         45666-45773         c
            602-742             AC114645.9         43052-43192         c
            743-2381            AC114645.9         39163-40801         c
FEATURES             Location/Qualifiers
     source          1..2381
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 35.32 cM"
     gene            1..2381
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="SPG21, maspardin"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
     exon            1..70
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            71..157
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..859
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="isoform 5 is encoded by transcript variant 7;
                     maspardin; acid cluster protein 33; spastic paraplegia 21
                     autosomal recessive Mast syndrome protein homolog; spastic
                     paraplegia 21 homolog"
                     /codon_start=1
                     /product="maspardin isoform 5"
                     /protein_id="NP_001400478.1"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
                     /translation="MGEIKVSPDYNWFRSTVPLKKLQYPVYWDHLEFCDGFRKLLDHL
                     QLDKVHLFGASLGGFLAQKFAEYTHKSPRVHSLILCNAFSDTSIFNQTWTANSFWLMP
                     AFMLKKIVLGNFSSGPVDPMMADAIDFMVDRLESLGQSELASRLTLNCQNSYVEPHKI
                     RDIPVTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNFPYLCRSAEVNLYVQIH
                     LLQFHGTKYAAIDPSVVSAEELEVQKGRLGLSQEEP"
     exon            158..238
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            239..384
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            385..493
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            494..601
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            602..742
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            743..2381
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1349..1354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      1366
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="major polyA site"
     regulatory      2360..2365
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      2381
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
ORIGIN      
        1 agtactgagc tgcttgtgag ttatactgaa gacccggtaa ggactaccct tcggccactg
       61 tgggaaagaa ggttaacctc tgcttctgct catcatggga gagatcaaag tctctccaga
      121 ttataattgg tttagaagta ctgttcccct gaaaaagttg cagtatccag tttattggga
      181 ccatcttgaa ttctgtgatg gattcagaaa acttttagac cacttacaac tggataaagt
      241 tcatctgttt ggggcatctt tgggaggctt tttggctcaa aaatttgctg aatacactca
      301 caagtctccc agggtacact ccctcatcct gtgcaatgcc ttcagtgaca cgtctatctt
      361 caaccaaaca tggactgcaa atagcttctg gttgatgcca gcgtttatgc tcaagaaaat
      421 cgttttgggg aacttttcct ctggcccagt agacccgatg atggctgatg ccattgattt
      481 catggtggac aggctggaga gtttgggtca aagtgaactg gcttcaaggc taactctcaa
      541 ctgtcagaat tcctatgtgg agccacataa gatccgggac atccccgtca ccatcatgga
      601 tgtgtttgac cagagtgcgc tgtcaacaga agccaaggaa gaaatgtaca aactgtaccc
      661 taatgcgcgg agagcccacc ttaagacagg aggcaatttt ccctacctgt gcaggagtgc
      721 agaggtcaat ctttatgtgc agatacatct gctgcagttc catggaacca agtacgctgc
      781 catcgatccg tcagtggtca gtgcggagga gctagaggtg cagaaaggcc gcctcggcct
      841 cagccaggaa gagccataga tggggcttga gatgccgaac caccctgctc ttgcacaatc
      901 agttcgggtt cgttggtcgg gcacactggt cctcaccctt ctggaagtcg gactgattgt
      961 caatctcatg acaggcgtca gctcttctaa accagtgtga ctggcccctc tccacatttg
     1021 tttttgtttt aaacttttaa atttgaagaa cttttaaaga ctcccatttt aagaattgtg
     1081 aaaattttgc taccaaaagt cttctccact ctgttcatct caaaagcttg ggatcatgtg
     1141 gcgttctctc ttttcctgct ttctataact gctgcaccca cctccaggtt agaagaggag
     1201 caccggtcat ttttatgctt tcttgggcat aaccagaggg tcgaggctgg cagcctgctg
     1261 gccactccct acacatcagc ttttttgctt tccagttgag cacatcattt tgagtattag
     1321 ctgttgtatt tctagacatt acatttggaa taaaaattga atttcagcca gtggcttctg
     1381 tgatgagtga ggctgcccct ctgggctact ggccagtgct gtgtgatgtc gggtgaacaa
     1441 gtccatcact ctgactgcag cacggctggc tgttacctgc tgactgccgc tgtagcctac
     1501 gtgctctttt aatctttttc actaatggga ttgttaaaaa agagatagag tctcatttag
     1561 gctaggctgg ccttgaactc attatgtgtc agggctagct tagagctcct gatccccctg
     1621 cctccacctc ccaagtgcta ggattacaga tgttatcctg aaagatcacc agatgcccga
     1681 tagaagtggt tttaatacat atggagaaca tagtaaactg tctccagctc ttgatccaat
     1741 gtagaaaacg tccagcctgt ggatagcctt gtctccctcc cgcacttttc tacatccctt
     1801 cctatcctgg atggctataa agcatttcca tgtgtccttt caagagatat gataggatac
     1861 ttgagacgct ggggagatga gtctgtgagt aaaagtgcgt gctggacgag catgagcact
     1921 tgagaccgcc cagtgcccgt gcacagtgtc aagagtgtcc aggcagcctg taacctcaga
     1981 tagcccagtg cccgtgcaca gagtcaagag tgtctaggca gcctgtaacc tcagatagcc
     2041 cagtgctcgt gcacagtgtc aagagtgtcc aggcagcctg taacctcaga tagcccagtg
     2101 cccgtgcaca gtgtcaagag tgtccaggca gcctgtaacc tcagatagcc cagtgcccgt
     2161 gcacagtgtc aagagtgtcc acatagcctg taacctcaga tagcccagtg cccgtgcaca
     2221 gtgtcaagag tatccacaca gcctgtaacc tcaacactag ctgcagggca tccattctct
     2281 ggcatctgcc cacacataca cagatatata cacccatctg tatacaggta tctatacagt
     2341 aacaaagagg ttatttgata ataaaggttg aaatatctgt a
//
