LOCUS       NM_013463               2991 bp    mRNA    linear   ROD 11-MAR-2025
DEFINITION  Mus musculus galactosidase, alpha (Gla), transcript variant 1,
            mRNA.
ACCESSION   NM_013463
VERSION     NM_013463.3
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 2991)
  AUTHORS   Tomsen-Melero,J., Molto-Abad,M., Merlo-Mas,J., Diaz-Riascos,Z.V.,
            Cristobal-Lecina,E., Soldevila,A., Altendorfer-Kroath,T.,
            Danino,D., Ionita,I., Pedersen,J.S., Snelling,L., Clay,H.,
            Carreno,A., Corchero,J.L., Pulido,D., Casas,J., Veciana,J., Simo
            Schwartz,Jr., Sala,S., Font,A., Birngruber,T., Royo,M., Cordoba,A.,
            Ventosa,N., Abasolo,I. and Gonzalez-Mira,E.
  TITLE     Targeted nanoliposomes to improve enzyme replacement therapy of
            Fabry disease
  JOURNAL   Sci Adv 10 (50), eadq4738 (2024)
   PUBMED   39671483
REFERENCE   2  (bases 1 to 2991)
  AUTHORS   Kugadas,A., Artoni,P., Ruangsiriluk,W., Zhao,M., Boukharov,N.,
            Islam,R., Volfson,D. and Derakhchan,K.
  TITLE     Cardiac manifestations of Fabry disease in G3Stg/GlaKO and GlaKO
            mouse models-Translation to Fabry disease patients
  JOURNAL   PLoS One 19 (5), e0304415 (2024)
   PUBMED   38820517
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2991)
  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   4  (bases 1 to 2991)
  AUTHORS   Sharma,P., Zhang,X., Ly,K., Zhang,Y., Hu,Y., Ye,A.Y., Hu,J.,
            Kim,J.H., Lou,M., Wang,C., Celuzza,Q., Kondo,Y., Furukawa,K.,
            Bundle,D.R., Furukawa,K., Alt,F.W. and Winau,F.
  TITLE     The lipid globotriaosylceramide promotes germinal center B cell
            responses and antiviral immunity
  JOURNAL   Science 383 (6684), eadg0564 (2024)
   PUBMED   38359115
REFERENCE   5  (bases 1 to 2991)
  AUTHORS   Dabrowska-Schlepp,P., Busch,A., Shen,J.S., Cheong,R.Y.,
            Madsen,L.B., Mascher,D., Schiffmann,R. and Schaaf,A.
  TITLE     Comparison of efficacy between subcutaneous and intravenous
            application of moss-aGal in the mouse model of Fabry disease
  JOURNAL   JIMD Rep 64 (6), 460-467 (2023)
   PUBMED   37927484
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2991)
  AUTHORS   Lusis,A.J. and West,J.D.
  TITLE     X-linked and autosomal genes controlling mouse alpha-galactosidase
            expression
  JOURNAL   Genetics 88 (2), 327-342 (1978)
   PUBMED   205481
REFERENCE   7  (bases 1 to 2991)
  AUTHORS   Adler,D.A., West,J.D. and Chapman,V.M.
  TITLE     Expression of alpha-galactosidase in preimplantation mouse embryos
  JOURNAL   Nature 267 (5614), 838-839 (1977)
   PUBMED   895843
REFERENCE   8  (bases 1 to 2991)
  AUTHORS   Francke,U., Lalley,P.A., Moss,W., Ivy,J. and Minna,J.D.
  TITLE     Gene mapping in Mus musculus by interspecific cell hybridization:
            assignment of the genes for tripeptidase-1 to chromosome 10,
            dipeptidase-2 to chromosome 18, acid phosphatase-1 to chromosome
            12, and adenylate kinase-1 to chromosome 2
  JOURNAL   Cytogenet Cell Genet 19 (2-3), 57-84 (1977)
   PUBMED   198184
REFERENCE   9  (bases 1 to 2991)
  AUTHORS   Lusis,A.J. and West,J.D.
  TITLE     X-linked inheritance of a structural gene for alpha-galactosidase
            in Mus musculus
  JOURNAL   Biochem Genet 14 (9-10), 849-855 (1976)
   PUBMED   1008807
REFERENCE   10 (bases 1 to 2991)
  AUTHORS   Kozak,C., Nichols,E. and Ruddle,F.H.
  TITLE     Gene linkage analysis in the mouse by somatic cell hybridization:
            assignment of adenine phosphoribosyltransferase to chromosome 8 and
            alpha-galactosidase to the X chromosome
  JOURNAL   Somatic Cell Genet 1 (4), 371-382 (1975)
   PUBMED   1235912
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX004852.5.
            
            On Mar 21, 2022 this sequence version replaced NM_013463.2.
            
            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 :: AK040081.1, AK164231.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164134 [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
            1-221               BX004852.5         51351-51571         c
            222-396             BX004852.5         46888-47062         c
            397-574             BX004852.5         45793-45970         c
            575-666             BX004852.5         44247-44338         c
            667-828             BX004852.5         42678-42839         c
            829-1026            BX004852.5         41559-41756         c
            1027-2991           BX004852.5         38776-40740         c
FEATURES             Location/Qualifiers
     source          1..2991
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 56.2 cM"
     gene            1..2991
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /note="galactosidase, alpha"
                     /db_xref="GeneID:11605"
                     /db_xref="MGI:MGI:1347344"
     exon            1..221
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..1287
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /EC_number="3.2.1.22"
                     /note="alpha-galactosidase A; melibiase;
                     alpha-D-galactosidase A; alpha-D-galactoside
                     galactohydrolase; galactosylgalactosylglucosylceramidase
                     GLA"
                     /codon_start=1
                     /product="alpha-galactosidase A precursor"
                     /protein_id="NP_038491.2"
                     /db_xref="CCDS:CCDS41124.1"
                     /db_xref="GeneID:11605"
                     /db_xref="MGI:MGI:1347344"
                     /translation="MAMKLLSRDTRLVCELALCPLALVFWSILGVRALDNGLARTPTM
                     GWLHWERFMCNLDCQEEPDACISEQLFMQMAELMVSDGWRDAGYDYLCIDDCWMAPER
                     DSKGRLQADPQRFPSGIKHLANYVHSKGLKLGIYADVGNKTCAGFPGSFGSYDIDAQT
                     FADWGVDLLKFDGCHCDSVVSLENGYKYMALALNRTGRSIVYSCEWPLYLRPFHKPNY
                     TDIQYYCNHWRNFDDVYDSWESIKNILSWTVVYQKEIVEVAGPGSWNDPDMLVIGNFG
                     LSWDQQVTQMALWAIMAAPLLMSNDLRQISSQAKALLQNKDVIAINQDPLGKQGYCFR
                     KENHIEVWERPLSNLAWAVAVRNLQEIGGPCPYTIQISSLGRGLACNPGCIITQLLPE
                     KVHLGFYEWTLTLKTRVNPSGTVLFRLER"
     exon            222..396
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     exon            397..574
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     exon            575..666
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     exon            667..828
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     exon            829..1026
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..2991
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1359..1364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /note="hexamer: AATAAA"
     polyA_site      1390
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /note="major polyA site"
     regulatory      2971..2976
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Gla"
                     /gene_synonym="Ags"
                     /note="hexamer: AATAAA"
     polyA_site      2991
                     /gene="Gla"
                     /gene_synonym="Ags"
ORIGIN      
        1 aaactgaacc aaaggatttc tatggccatg aagcttttga gcagagatac gcggctggtc
       61 tgtgagcttg cgctttgtcc cctggcttta gttttctgga gcattcttgg ggtcagagca
      121 ttggacaatg gcttggcgcg gactcctact atgggctggc tgcattggga acgtttcatg
      181 tgcaaccttg actgccaaga agagcctgat gcctgcataa gtgagcaact gttcatgcag
      241 atggcagagc tcatggtctc tgatggctgg cgggatgcag gttatgacta tctctgcata
      301 gatgactgtt ggatggctcc cgagagggat tcaaagggca ggcttcaggc agatccccaa
      361 cgctttccta gtgggatcaa acacctcgca aattacgtcc acagcaaagg attgaagcta
      421 gggatttatg cagatgttgg gaataaaacc tgtgcaggtt tccccgggag ttttggatcc
      481 tatgacattg atgcgcagac atttgctgac tggggcgtag atctgctaaa atttgatggt
      541 tgtcactgtg acagtgtagt atccttggag aatggttata agtacatggc cttggccttg
      601 aacaggacag gccgaagcat tgtatactcc tgtgagtggc cactttattt gagacccttt
      661 cataagccca attatacaga tatccaatat tactgcaatc attggagaaa ttttgatgat
      721 gtttatgatt cctgggaaag cataaagaat atcttgtctt ggacagtggt ttaccagaag
      781 gagattgttg aagtcgctgg accaggcagc tggaatgacc cagacatgtt agtgatcggc
      841 aactttggcc tcagttggga ccagcaggtg acacagatgg ccctctgggc tatcatggcc
      901 gctcccctac tcatgtccaa cgatctgcga caaatcagct ctcaagccaa agctctgctt
      961 cagaataagg atgtaattgc catcaaccaa gaccccttgg gcaagcaggg ctactgtttc
     1021 agaaaggaaa accacattga ggtttgggaa cggccactct ccaacctagc ctgggctgtg
     1081 gctgtgagaa acctgcagga gattggtgga ccttgtcctt ataccatcca gatttcttcc
     1141 ctgggtagag gactagcctg caatcctggc tgcatcatta ctcagcttct ccccgagaaa
     1201 gtacacctag gcttctatga atggactttg accttaaaaa ctcgagtaaa cccctcaggc
     1261 actgttttgt ttcggttaga aagataaact actatatagg cagagttcta tgtcccgttt
     1321 tactacaaac caaactattt cctgcccctc cctctaaaaa taaagtatcc caaaggcatt
     1381 gcccttaaaa gctgcttttc aacataggct tttgaaatta agtgggtact cctgtgcaat
     1441 attccgaggt ggactgggag gagggtaaaa gtgtggaatg tattgaaaac agatttcaaa
     1501 aaaaaagtct ctacttcggg ttttcttata acttgtaacc ggtaggctgt agcagatgct
     1561 tccgtacact ggttgatttt aaccttcaca accctgaagc agctgtttat ccactataat
     1621 ctttacagcc aagtcaaaag caacaaaaaa ccctttagat gtatgtggtt caagagtttt
     1681 gcctgtatgt atgaggtcca catacatacc gggtgcccag gaagccagaa gaacaagtgc
     1741 ttttttttcc ccaagacagg gtttctccat atagccctgg ctgtcctgga actcactctg
     1801 tagaccagga tggccttgaa tttagaaatc cgcctgcctc agcctccaaa gtgctgggat
     1861 taaaggcctg cgccaccacc gcccagcctt ttttgttgtt ttgacaagtg cccttaatca
     1921 ctgagccagc aagctctagc acccagaacc aggatttaaa gctaaaccag ccagacacaa
     1981 ataactatat ggaggcactg cttagtctag tgcaaaggaa aaaatgaaaa tctgcttcct
     2041 ccaggtgaca gactggatgt ggtagcatgt ccttaatccc agtactaggg aggcaatggc
     2101 aagtataatt caaggccagc ctggactaca aagtgcaagc ctggctggaa acaaactcat
     2161 atgcccaggt tatcccctag agctaagaaa tgcagatagg attacctgta tttaccaatg
     2221 gtgattggct acatgatgtc ctaagagcaa ttgatgaact gtcctggtga caaactgggg
     2281 gattcgggag gaaaaaggtt tggaaggatg ctcaggtgtt attttacaca aagccagtat
     2341 gatggtgttc catgcctcca attccagcac ttggtgagga taaggccaga gaaacccagg
     2401 ggaggaacta gggacacttc caacaatcta aaacaaggga tgtatattga agcatgctcc
     2461 ccagactccc ttaatgcctg aagtgcccag cagtggtagc acacgccttt aatcctagca
     2521 cttaggaggc agaggcagcc ggatgagttc tgaattcgag gccagcctgg tctacagagt
     2581 tccaggacag ccagggctat acagagaaac cctgtctcag gggaaaaaaa tgagggcctg
     2641 gagaaatgat tcagcggtta agaggattga ctgctcttcc aaaggtcatg agttcaaatc
     2701 ccagcaacca catggtggct cacaataatc tgcaatgaga tctgatgccc tcttctggtt
     2761 ctctagacag caacattata cttgcataat aatcttttaa aaaaaaagaa aatgcctgaa
     2821 gcaaaacata tttaaagctt attactggcc tcaaatccct tgaaatacaa gtctctacct
     2881 cagggggtgg gggcatcttc tggggaggtg ggggatgtgc aatattccaa ggtggactgg
     2941 gaaggggata aaaatctgga atgtattgaa aataaaaaat ttcaaataaa a
//
