LOCUS       NM_001357813            2543 bp    mRNA    linear   ROD 13-JUN-2024
DEFINITION  Mus musculus SPG21, maspardin (Spg21), transcript variant 2, mRNA.
ACCESSION   NM_001357813 XM_006511222
VERSION     NM_001357813.2
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 2543)
  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 2543)
  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 2543)
  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 2543)
  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 2543)
  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.
            
            On Nov 3, 2022 this sequence version replaced NM_001357813.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660821.198509.1,
                                           SRR1660817.306695.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849375, SAMN00849383
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-70                AC114645.9         64730-64799         c
            71-157              AC114645.9         62284-62370         c
            158-319             AC114645.9         58698-58859         c
            320-400             AC114645.9         53916-53996         c
            401-546             AC114645.9         51649-51794         c
            547-655             AC114645.9         47147-47255         c
            656-763             AC114645.9         45666-45773         c
            764-904             AC114645.9         43052-43192         c
            905-2543            AC114645.9         39163-40801         c
FEATURES             Location/Qualifiers
     source          1..2543
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 35.32 cM"
     gene            1..2543
                     /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..1021
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="isoform 1 is encoded by transcript variant 2;
                     maspardin; acid cluster protein 33; spastic paraplegia 21
                     autosomal recessive Mast syndrome protein homolog; spastic
                     paraplegia 21 homolog"
                     /codon_start=1
                     /product="maspardin isoform 1"
                     /protein_id="NP_001344742.1"
                     /db_xref="CCDS:CCDS23293.1"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
                     /translation="MGEIKVSPDYNWFRSTVPLKKIIVDDDDSKIWSLYDAGPRSIRC
                     PLIFLPPVSGTADVFFQQILALTGWGYRVIALQYPVYWDHLEFCDGFRKLLDHLQLDK
                     VHLFGASLGGFLAQKFAEYTHKSPRVHSLILCNAFSDTSIFNQTWTANSFWLMPAFML
                     KKIVLGNFSSGPVDPMMADAIDFMVDRLESLGQSELASRLTLNCQNSYVEPHKIRDIP
                     VTIMDVFDQSALSTEAKEEMYKLYPNARRAHLKTGGNFPYLCRSAEVNLYVQIHLLQF
                     HGTKYAAIDPSVVSAEELEVQKGRLGLSQEEP"
     exon            158..319
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            320..400
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            401..546
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            547..655
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            656..763
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            764..904
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     exon            905..2543
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1511..1516
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      1528
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="major polyA site"
     regulatory      2522..2527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /note="hexamer: AATAAA"
     polyA_site      2543
                     /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 gaaaaagata atcgtggatg acgatgacag
      181 taagatctgg tcgctctacg acgctggccc cagaagcatc aggtgtcctc tcatctttct
      241 tcctcctgtc agcggaactg cagatgtgtt tttccagcag attctggctt tgactggatg
      301 gggttaccgg gttatagctt tgcagtatcc agtttattgg gaccatcttg aattctgtga
      361 tggattcaga aaacttttag accacttaca actggataaa gttcatctgt ttggggcatc
      421 tttgggaggc tttttggctc aaaaatttgc tgaatacact cacaagtctc ccagggtaca
      481 ctccctcatc ctgtgcaatg ccttcagtga cacgtctatc ttcaaccaaa catggactgc
      541 aaatagcttc tggttgatgc cagcgtttat gctcaagaaa atcgttttgg ggaacttttc
      601 ctctggccca gtagacccga tgatggctga tgccattgat ttcatggtgg acaggctgga
      661 gagtttgggt caaagtgaac tggcttcaag gctaactctc aactgtcaga attcctatgt
      721 ggagccacat aagatccggg acatccccgt caccatcatg gatgtgtttg accagagtgc
      781 gctgtcaaca gaagccaagg aagaaatgta caaactgtac cctaatgcgc ggagagccca
      841 ccttaagaca ggaggcaatt ttccctacct gtgcaggagt gcagaggtca atctttatgt
      901 gcagatacat ctgctgcagt tccatggaac caagtacgct gccatcgatc cgtcagtggt
      961 cagtgcggag gagctagagg tgcagaaagg ccgcctcggc ctcagccagg aagagccata
     1021 gatggggctt gagatgccga accaccctgc tcttgcacaa tcagttcggg ttcgttggtc
     1081 gggcacactg gtcctcaccc ttctggaagt cggactgatt gtcaatctca tgacaggcgt
     1141 cagctcttct aaaccagtgt gactggcccc tctccacatt tgtttttgtt ttaaactttt
     1201 aaatttgaag aacttttaaa gactcccatt ttaagaattg tgaaaatttt gctaccaaaa
     1261 gtcttctcca ctctgttcat ctcaaaagct tgggatcatg tggcgttctc tcttttcctg
     1321 ctttctataa ctgctgcacc cacctccagg ttagaagagg agcaccggtc atttttatgc
     1381 tttcttgggc ataaccagag ggtcgaggct ggcagcctgc tggccactcc ctacacatca
     1441 gcttttttgc tttccagttg agcacatcat tttgagtatt agctgttgta tttctagaca
     1501 ttacatttgg aataaaaatt gaatttcagc cagtggcttc tgtgatgagt gaggctgccc
     1561 ctctgggcta ctggccagtg ctgtgtgatg tcgggtgaac aagtccatca ctctgactgc
     1621 agcacggctg gctgttacct gctgactgcc gctgtagcct acgtgctctt ttaatctttt
     1681 tcactaatgg gattgttaaa aaagagatag agtctcattt aggctaggct ggccttgaac
     1741 tcattatgtg tcagggctag cttagagctc ctgatccccc tgcctccacc tcccaagtgc
     1801 taggattaca gatgttatcc tgaaagatca ccagatgccc gatagaagtg gttttaatac
     1861 atatggagaa catagtaaac tgtctccagc tcttgatcca atgtagaaaa cgtccagcct
     1921 gtggatagcc ttgtctccct cccgcacttt tctacatccc ttcctatcct ggatggctat
     1981 aaagcatttc catgtgtcct ttcaagagat atgataggat acttgagacg ctggggagat
     2041 gagtctgtga gtaaaagtgc gtgctggacg agcatgagca cttgagaccg cccagtgccc
     2101 gtgcacagtg tcaagagtgt ccaggcagcc tgtaacctca gatagcccag tgcccgtgca
     2161 cagagtcaag agtgtctagg cagcctgtaa cctcagatag cccagtgctc gtgcacagtg
     2221 tcaagagtgt ccaggcagcc tgtaacctca gatagcccag tgcccgtgca cagtgtcaag
     2281 agtgtccagg cagcctgtaa cctcagatag cccagtgccc gtgcacagtg tcaagagtgt
     2341 ccacatagcc tgtaacctca gatagcccag tgcccgtgca cagtgtcaag agtatccaca
     2401 cagcctgtaa cctcaacact agctgcaggg catccattct ctggcatctg cccacacata
     2461 cacagatata tacacccatc tgtatacagg tatctataca gtaacaaaga ggttatttga
     2521 taataaaggt tgaaatatct gta
//
