LOCUS       NP_613050                308 aa            linear   ROD 13-JUN-2024
DEFINITION  maspardin isoform 1 [Mus musculus].
ACCESSION   NP_613050
VERSION     NP_613050.1
DBSOURCE    REFSEQ: accession NM_138584.3
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  (residues 1 to 308)
  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  (residues 1 to 308)
  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  (residues 1 to 308)
  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  (residues 1 to 308)
  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  (residues 1 to 308)
  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 :: AK149930.1, SRR7345562.1491862.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..308
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="9"
                     /map="9 35.32 cM"
     Protein         1..308
                     /product="maspardin isoform 1"
                     /note="maspardin; acid cluster protein 33; spastic
                     paraplegia 21 autosomal recessive Mast syndrome protein
                     homolog; spastic paraplegia 21 homolog"
                     /calculated_mol_wt=34821
     Region          45..266
                     /region_name="MenH"
                     /note="2-succinyl-6-hydroxy-2,
                     4-cyclohexadiene-1-carboxylate synthase MenH and related
                     esterases, alpha/beta hydrolase fold [Coenzyme transport
                     and metabolism, General function prediction only];
                     COG0596"
                     /db_xref="CDD:440361"
     Site            304
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9NZD8; propagated from
                     UniProtKB/Swiss-Prot (Q9CQC8.1)"
     CDS             1..308
                     /gene="Spg21"
                     /gene_synonym="ACP33; BM-019; D9Wsu18e; GL010; MAST"
                     /coded_by="NM_138584.3:218..1144"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS23293.1"
                     /db_xref="GeneID:27965"
                     /db_xref="MGI:MGI:106403"
ORIGIN      
        1 mgeikvspdy nwfrstvplk kiivddddsk iwslydagpr sircpliflp pvsgtadvff
       61 qqilaltgwg yrvialqypv ywdhlefcdg frklldhlql dkvhlfgasl ggflaqkfae
      121 ythksprvhs lilcnafsdt sifnqtwtan sfwlmpafml kkivlgnfss gpvdpmmada
      181 idfmvdrles lgqselasrl tlncqnsyve phkirdipvt imdvfdqsal steakeemyk
      241 lypnarrahl ktggnfpylc rsaevnlyvq ihllqfhgtk yaaidpsvvs aeelevqkgr
      301 lglsqeep
//
