LOCUS       NM_010299               4257 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus GM2 ganglioside activator protein (Gm2a), mRNA.
ACCESSION   NM_010299
VERSION     NM_010299.3
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  (bases 1 to 4257)
  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 4257)
  AUTHORS   Deschenes,N.M., Cheng,C., Khanal,P., Quinville,B.M., Ryckman,A.E.,
            Mitchell,M., Pshezhetsky,A.V. and Walia,J.S.
  TITLE     Characterization of a phenotypically severe animal model for human
            AB-Variant GM2 gangliosidosis
  JOURNAL   Front Mol Neurosci 16, 1242814 (2023)
   PUBMED   38098938
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4257)
  AUTHORS   Li,Y.T., Li,S.C. and Chen,I.L.
  TITLE     Expression of the GM2 activator protein in mouse testis
  JOURNAL   Reprod Biol 17 (4), 376-379 (2017)
   PUBMED   29100724
  REMARK    GeneRIF: The most interesting finding was the association of the
            GM2-AP with the acrosomal apparatus in early spermatids. A modest
            to intense staining was observed in some acrosomal granules and
            acrosomal caps. The GM2-AP seemed to disappear from acrosomal caps
            in the later stage of spermatids, in which the nucleus became
            elongated and condensed.
REFERENCE   4  (bases 1 to 4257)
  AUTHORS   Miyai,M., Hamada,M., Moriguchi,T., Hiruma,J., Kamitani-Kawamoto,A.,
            Watanabe,H., Hara-Chikuma,M., Takahashi,K., Takahashi,S. and
            Kataoka,K.
  TITLE     Transcription Factor MafB Coordinates Epidermal Keratinocyte
            Differentiation
  JOURNAL   J Invest Dermatol 136 (9), 1848-1857 (2016)
   PUBMED   27208706
  REMARK    Review article
REFERENCE   5  (bases 1 to 4257)
  AUTHORS   Shalom-Barak,T., Zhang,X., Chu,T., Timothy Schaiff,W., Reddy,J.K.,
            Xu,J., Sadovsky,Y. and Barak,Y.
  TITLE     Placental PPARgamma regulates spatiotemporally diverse genes and a
            unique metabolic network
  JOURNAL   Dev Biol 372 (1), 143-155 (2012)
   PUBMED   22967998
REFERENCE   6  (bases 1 to 4257)
  AUTHORS   Liu,Y., Hoffmann,A., Grinberg,A., Westphal,H., McDonald,M.P.,
            Miller,K.M., Crawley,J.N., Sandhoff,K., Suzuki,K. and Proia,R.L.
  TITLE     Mouse model of GM2 activator deficiency manifests cerebellar
            pathology and motor impairment
  JOURNAL   Proc Natl Acad Sci U S A 94 (15), 8138-8143 (1997)
   PUBMED   9223328
REFERENCE   7  (bases 1 to 4257)
  AUTHORS   Bertoni,C., Appolloni,M.G., Stirling,J.L., Li,S.C., Li,Y.T.,
            Orlacchio,A. and Beccari,T.
  TITLE     Structural organization and expression of the gene for the mouse
            GM2 activator protein
  JOURNAL   Mamm Genome 8 (2), 90-93 (1997)
   PUBMED   9060405
REFERENCE   8  (bases 1 to 4257)
  AUTHORS   Yamanaka,S., Johnson,O.N., Lyu,M.S., Kozak,C.A. and Proia,R.L.
  TITLE     The mouse gene encoding the GM2 activator protein (Gm2a): cDNA
            sequence, expression, and chromosome mapping
  JOURNAL   Genomics 24 (3), 601-604 (1994)
   PUBMED   7713516
REFERENCE   9  (bases 1 to 4257)
  AUTHORS   Beccari,T., Palmerini,C.A., Servillo,G., Della Fazia,M.A., Viola
            Magni,M.P. and Orlacchio,A.
  TITLE     GM2 activator protein expression in mouse tissues
  JOURNAL   Biochem Biophys Res Commun 204 (2), 741-745 (1994)
   PUBMED   7980537
REFERENCE   10 (bases 1 to 4257)
  AUTHORS   Bellachioma,G., Stirling,J.L., Orlacchio,A. and Beccari,T.
  TITLE     Cloning and sequence analysis of a cDNA clone coding for the mouse
            GM2 activator protein
  JOURNAL   Biochem J 294 (Pt 1) (Pt 1), 227-230 (1993)
   PUBMED   7689829
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BB856051.1, BC004651.1 and AL772357.9.
            
            On Apr 21, 2011 this sequence version replaced NM_010299.2.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC004651.1, U09816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-132               BB856051.1         2-133
            133-2126            BC004651.1         1-1994
            2127-4257           AL772357.9         24128-26258
FEATURES             Location/Qualifiers
     source          1..4257
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="11"
                     /map="11 32.13 cM"
     gene            1..4257
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /note="GM2 ganglioside activator protein"
                     /db_xref="GeneID:14667"
                     /db_xref="MGI:MGI:95762"
     exon            1..260
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     CDS             180..761
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /note="ganglioside GM2 activator; shingolipid activator
                     protein 3; cerebroside sulfate activator protein;
                     sphingolipid activator protein 3"
                     /codon_start=1
                     /product="ganglioside GM2 activator precursor"
                     /protein_id="NP_034429.1"
                     /db_xref="CCDS:CCDS24707.1"
                     /db_xref="GeneID:14667"
                     /db_xref="MGI:MGI:95762"
                     /translation="MHRLPLLLLLGLLLAGSVAPARLVPKRLSQLGGFSWDNCDEGKD
                     PAVIKSLTIQPDPIVVPGDVVVSLEGKTSVPLTAPQKVELTVEKEVAGFWVKIPCVEQ
                     LGSCSYENICDLIDEYIPPGESCPEPLHTYGLPCHCPFKEGTYSLPTSNFTVPDLELP
                     SWLSTGNYRIQSILSSGGKRLGCIKIAASLKGR"
     exon            261..422
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     exon            423..605
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     exon            606..4257
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2107..2112
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      2126
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /note="major polyA site"
     regulatory      4233..4238
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
                     /note="hexamer: AATAAA"
     polyA_site      4257
                     /gene="Gm2a"
                     /gene_synonym="GM2-AP; SAP-3"
ORIGIN      
        1 gagggtgggg ctgaagcagg tggtgtttgg ggcgtggccg gagaagtccc gcctagggcc
       61 tgcaatctca gccccgcggg gcggagcgct gagcgcagcc aggctgtgca ttagcgacct
      121 gctgtcttta aaggcagccg tgagtcgcat tgcctagacc gacacggagg accatcgcca
      181 tgcaccgtct accgctgctg ctcctgctgg gcttgctgct cgcaggctcc gtcgcccctg
      241 cgcgcctcgt cccgaagcgc ctttcccaac ttggtggctt ctcctgggat aactgtgatg
      301 aaggaaagga ccctgcagtg atcaaaagcc tcacgatcca acctgacccc attgtggttc
      361 ctggagatgt agtcgtcagc cttgagggca agaccagcgt tcccctcact gctcctcaga
      421 aggtggagct caccgtggag aaggaagtgg ctggcttctg ggtcaagatt ccttgtgtag
      481 aacagctagg cagctgtagc tacgagaaca tctgtgacct gatagacgaa tacattcctc
      541 ctggagagag ctgcccagag cccctgcaca cctacgggct gccctgccac tgtcccttca
      601 aggaaggtac ctactcacta cccacgagca acttcacagt gcctgaccta gagctaccga
      661 gctggctgag cacaggcaac taccgcatcc agagtatctt gagcagtggt gggaagcgcc
      721 tgggctgcat caagattgct gcctctctca agggcagata acctggcagc agccaccaca
      781 gaatgaaggg gcaccagcac ggcaggcctc ttcttctgtg ttccggtgcc caggcctgcc
      841 tgcctctaac tctatcctcc tacggttctc taccctctct ggaaatcatt gcaacctgac
      901 ctgagggagg atggaccagg cccaacatct gatgggctgt aagccatgct cctttgcacc
      961 cctaccaact ttctaagaat ttctttcgta tccaaaacag tcaaggaatg ggaaccaaca
     1021 tgtttgggaa tcctaaggtc aaaactggcc caacctggac ctcctggagt tatgctcacc
     1081 ccacttcttt gttttagtca ccaactttaa aaccaggata accgtattaa tttctcattc
     1141 catcctgagc ctctcttcct gcaaagaggt ctaggtagtc agtcttgggt ccctctatta
     1201 acttctgtga ttaactgcat tctctttgca acttaacttg tcaacactgg ggctgacaga
     1261 tcctgaagag gcagggtggt gtgtgacaga aacctgtgag agttattgtt gggcatgctc
     1321 cagtaaccct tggcaaagca caggtacctg tagggccaag ccgaagacct agggaggcac
     1381 agcaatcact tctgggagcg atgcccattt ttcctttttc cttttttttt tttttttttt
     1441 ttggtatgat gccttcaaga atgggatggc attccttata cctgacaaga aacaaccaaa
     1501 aaaaccaata gcacatgtgc tctggtgcca ggtggccagg gtctggaatg gcatatctag
     1561 ttctaaagag gtgcagtccc ctgcaagttc catgtaagga atgttgccag atatttgcaa
     1621 catttttctt ccttaggccc caaacccagc cgtttatatg aaattgtaga atttttaact
     1681 attggaaaca aatggttttt ttatatatac ttactatgca ggccaaaggg gccccacgga
     1741 ctcacccagg gacataatct ggctcccagg tggctgcttt tcctcacatc tgttcatctt
     1801 ctcaatctca agttatctgg ccgcatctct tcccccttca aggtcaagtc cttggtgcct
     1861 ggcctcaaag agggctcagc ctgcactaga gcaggtctac atggcttctg agagctgggc
     1921 actgtgccaa cttccgagcc atcaccacca gagtagaggg gttcacactg gagtagatcc
     1981 cacctagcag ccaccacgtg gaacaggggt cctgtgaaga gagtgggtcc cacatcaggt
     2041 tgcaccatga caacttcctg agcctcctcg gacagcccag gttctggact agaagactgg
     2101 tctggcaata aatcttttta acttgctgtg tgggctcctt ttcttggctg tgtgcttcat
     2161 tgagcatggc tgcatgtttg ggagtctgtg atgggctgtg gctgtggaag ggctcagtgg
     2221 gtggtccagg ggagtccagg catctctggc catgggtgct tgtgttcatc tcagcagcag
     2281 ccggggcttc cgccttgctc tgtttgggcc tgaacgccca gggttgcttt cagatccctt
     2341 agcctagttt tctgccattc aaccttaaag ctttccacta catatttttt tcttttggtt
     2401 ttgtgtgcat gtgcatgcat gtgagagaga aagaggagag agaggaggct agaagacaac
     2461 cttgggtatc attccttggg tgctttccat tttttgtgtt aagtcagggt ctcattaact
     2521 tggaactgct atgcaaacca tgctgtctgg tcagagagtc ctgggtatcc acctgccccc
     2581 acctcacatc ccactattac tgggattata aatgtgttca tggttctggg gacccgaact
     2641 ctggtcctca aatttgtaag gcaaatctgc tactgagagg cagggtctca ttctatctag
     2701 tctaggctga cctcaaactc ctctgtacat aggacaagca tgaccatgtc cttatgcttt
     2761 caggattaca ggcctgtacc accacgccta gttctcttga tttgtagtct gcactctgct
     2821 tttgttgttt ggttggttct gcaaggtggt ataggctagt ctggaactta gccctcccac
     2881 tacttgctgg gattgtatgc aatgcacccc aagttcacaa tcagaacagc accttaccag
     2941 ctcaggaaat ctatatgtca tacttgttaa atgtgccttg ttgtctcttg tgggttgtgg
     3001 gtaagatttg aggtgacatc tcagatccat gaacaaagaa ggatggtgtg ttttgaggcc
     3061 tagaaagaag gaaataaggt ctttgggagc gggcacttga aggtcttggc acaccattcc
     3121 tttgtttctg cttactgccc acaatgaggt gagcatgcct gcatacattc caccatgata
     3181 ccttgcttct caaccctgta tatatcatcc ctcatggtac tcggtataca tcatcctaca
     3241 atggaaacca gtttcccagt gctgtatata tcagcctgct atactactat gctttgccat
     3301 gtaccctcct gaaaactagg gttaagggtg tgtgtcacca tgcccagtct tgagggtggg
     3361 ttttttttta atgcttagtt tattatttgt gtgtgtgtgt gccaccatta tatataaata
     3421 atttttgaga caggttctca ctgtgtagcc cttactggcc tggaactcac tgtgtagacc
     3481 aagatgaccc tgaactcagg gacccacctg cctctggctc ctgagtgctg gaatcaaagg
     3541 cgtgaacctc cacattaagg gaatggagca gacaacctga aggggtgtct gatgattaat
     3601 ccctggttag tttgagtaac agaaaagatg acaatgcatt tgagtctttt aaataagaac
     3661 ccaggataga gtctactgtg cacagtggaa ccccaaggaa aagaagatag agaaaaaagc
     3721 cagcagcctc aggagtaaat gtcacccact gacaagagtc tcatgtggat gttaagctgg
     3781 gcataaaata gcacaaaaac caagtatctg cactgtttaa gtcttaccta gcagggcgtg
     3841 gtggctcaca cctgcaatcc cagcccttat gaagatttta aattcaagtt agcctgggct
     3901 ataaaactaa cactataaaa tgagcagtta ctgaagggta tgcgccattt ctctgagatg
     3961 ctcttagtat gtcatctcaa tataactatg gtcagataat cccaagcagc tcttcaaggt
     4021 tgccaaggcc acgaataata aggaatgatc tagaaacagc cacatgcata ccgggagaga
     4081 atacagacac tgtctgagat cctcatttca gatgtcggat tagactagca tttcagctgt
     4141 gttgacgtgg gtgtggctgt ggagggtctt agcattaatg acaggtgatg tgacatttga
     4201 gctatttctg tcttgcttta gaagtttttc aaaataaaaa gagactgttt tgtgaaa
//
