LOCUS       NM_007387               4669 bp    mRNA    linear   ROD 30-APR-2024
DEFINITION  Mus musculus acid phosphatase 2, lysosomal (Acp2), transcript
            variant 1, mRNA.
ACCESSION   NM_007387
VERSION     NM_007387.2
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 4669)
  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 4669)
  AUTHORS   Shabanipour,S., Jiao,X., Rahimi-Balaei,M., Aghanoori,M.R.,
            Chung,S.H., Ghavami,S., Consalez,G.G. and Marzban,H.
  TITLE     Upregulation of Neural Cell Adhesion Molecule 1 and Excessive
            Migration of Purkinje Cells in Cerebellar Cortex
  JOURNAL   Front Neurosci 15, 804402 (2022)
   PUBMED   35126044
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4669)
  AUTHORS   Jiao,X., Rahimi Balaei,M., Abu-El-Rub,E., Casoni,F., Pezeshgi
            Modarres,H., Dhingra,S., Kong,J., Consalez,G.G. and Marzban,H.
  TITLE     Reduced Granule Cell Proliferation and Molecular Dysregulation in
            the Cerebellum of Lysosomal Acid Phosphatase 2 (ACP2) Mutant Mice
  JOURNAL   Int J Mol Sci 22 (6), 2994 (2021)
   PUBMED   33804256
  REMARK    GeneRIF: Reduced Granule Cell Proliferation and Molecular
            Dysregulation in the Cerebellum of Lysosomal Acid Phosphatase 2
            (ACP2) Mutant Mice.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4669)
  AUTHORS   Loughran,G., Chou,M.Y., Ivanov,I.P., Jungreis,I., Kellis,M.,
            Kiran,A.M., Baranov,P.V. and Atkins,J.F.
  TITLE     Evidence of efficient stop codon readthrough in four mammalian
            genes
  JOURNAL   Nucleic Acids Res 42 (14), 8928-8938 (2014)
   PUBMED   25013167
REFERENCE   5  (bases 1 to 4669)
  AUTHORS   Pohl,S., Mitchison,H.M., Kohlschutter,A., van Diggelen,O.,
            Braulke,T. and Storch,S.
  TITLE     Increased expression of lysosomal acid phosphatase in
            CLN3-defective cells and mouse brain tissue
  JOURNAL   J Neurochem 103 (6), 2177-2188 (2007)
   PUBMED   17868323
  REMARK    GeneRIF: The data suggest that lysosomal dysfunction and
            accumulation of storage material require increased biogenesis of
            LAP/ACP2 and LAMP-2 positive membranes which makes LAP/ACP2
            suitable as biomarker of Batten disease.
REFERENCE   6  (bases 1 to 4669)
  AUTHORS   Mannan,A.U., Roussa,E., Kraus,C., Rickmann,M., Maenner,J.,
            Nayernia,K., Krieglstein,K., Reis,A. and Engel,W.
  TITLE     Mutation in the gene encoding lysosomal acid phosphatase (Acp2)
            causes cerebellum and skin malformation in mouse
  JOURNAL   Neurogenetics 5 (4), 229-238 (2004)
   PUBMED   15503243
  REMARK    GeneRIF: Acp2 is the gene mutated in nax mice provides a valuable
            model system for studying the role of Acp2 in cerebellum and skin
            homeostasis.
REFERENCE   7  (bases 1 to 4669)
  AUTHORS   Suter,A., Everts,V., Boyde,A., Jones,S.J., Lullmann-Rauch,R.,
            Hartmann,D., Hayman,A.R., Cox,T.M., Evans,M.J., Meister,T., von
            Figura,K. and Saftig,P.
  TITLE     Overlapping functions of lysosomal acid phosphatase (LAP) and
            tartrate-resistant acid phosphatase (Acp5) revealed by doubly
            deficient mice
  JOURNAL   Development 128 (23), 4899-4910 (2001)
   PUBMED   11731469
REFERENCE   8  (bases 1 to 4669)
  AUTHORS   Saftig,P., Hartmann,D., Lullmann-Rauch,R., Wolff,J., Evers,M.,
            Koster,A., Hetman,M., von Figura,K. and Peters,C.
  TITLE     Mice deficient in lysosomal acid phosphatase develop lysosomal
            storage in the kidney and central nervous system
  JOURNAL   J Biol Chem 272 (30), 18628-18635 (1997)
   PUBMED   9228031
REFERENCE   9  (bases 1 to 4669)
  AUTHORS   Geier,C., Kreysing,J., Boettcher,H., Pohlmann,R. and von Figura,K.
  TITLE     Localization of lysosomal acid phosphatase mRNA in mouse tissues
  JOURNAL   J Histochem Cytochem 40 (9), 1275-1282 (1992)
   PUBMED   1506664
REFERENCE   10 (bases 1 to 4669)
  AUTHORS   Geier,C., von Figura,K. and Pohlmann,R.
  TITLE     Molecular cloning of the mouse lysosomal acid phosphatase
  JOURNAL   Biol Chem Hoppe Seyler 372 (4), 301-304 (1991)
   PUBMED   2059337
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL691450.15, AK133756.1,
            AK128963.1, BQ445129.1, CD741498.1 and AW061158.1.
            
            On Apr 25, 2010 this sequence version replaced NM_007387.1.
            
            Summary: The protein encoded by this gene belongs to the histidine
            acid phosphatase family, which hydrolyze orthophosphoric monoesters
            to alcohol and phosphate. This protein is localized to the
            lysosomal membrane, and is chemically and genetically distinct from
            the red cell acid phosphatase. Mice lacking this gene showed
            multiple defects, including bone structure alterations, lysosomal
            storage defects, and an increased tendency towards seizures. An
            enzymatically-inactive allele of this gene showed severe growth
            retardation, hair-follicle abnormalities, and an ataxia-like
            phenotype. Two isoforms are predicted to be produced from the same
            mRNA by the use of alternative in-frame translation termination
            codons via a stop codon readthrough mechanism. [provided by RefSeq,
            Oct 2017].
            
            Transcript Variant: This variant (1) encodes two isoforms, which
            result from the use of alternative in-frame translation termination
            codons. The shorter isoform (1) results from translation
            termination at the upstream UGA stop codon, while the longer
            isoform (1x) results from UGA stop codon readthrough to the
            downstream UAG termination codon. This RefSeq represents the
            shorter isoform (1).
            
            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 :: AK128963.1, AK170658.1 [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##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 AL691450.15        125757-125761
            6-795               AK133756.1         2-791
            796-2711            AK128963.1         789-2704
            2712-3691           AK133756.1         2330-3309
            3692-4038           BQ445129.1         38-384
            4039-4224           CD741498.1         444-629             c
            4225-4669           AW061158.1         1-445               c
FEATURES             Location/Qualifiers
     source          1..4669
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 50.54 cM"
     gene            1..4669
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /note="acid phosphatase 2, lysosomal"
                     /db_xref="GeneID:11432"
                     /db_xref="MGI:MGI:87882"
     exon            1..137
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..1295
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /EC_number="3.1.3.2"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; lysosomal acid phosphatase"
                     /codon_start=1
                     /product="lysosomal acid phosphatase isoform 1 precursor"
                     /protein_id="NP_031413.1"
                     /db_xref="CCDS:CCDS16427.1"
                     /db_xref="GeneID:11432"
                     /db_xref="MGI:MGI:87882"
                     /translation="MAGRQTGWSQAALLQFLLGMCLTVMPPIQARSLRFVTLLYRHGD
                     RSPVKTYPKDPYQEEKWPQGFGQLTKEGMLQHWELGQALRQRYHGFLNTSYHRQEVYV
                     RSTDFDRTLMSAEANLAGLFPPNEVQHFNPNISWQPIPVHTVPITEDRLLKFPLGPCP
                     RYEQLQNETRQTPEYQNRSIQNAQFLNMVANETGLTNVTLETIWNVYDTLFCEQTHGL
                     LLPPWASPQTVQRLSQLKDFSFLFLFGIHEQVQKARLQGGVLLAQILKNLTLMATTSQ
                     FPKLLVYSAHDTTLVALQMALNVYNGKQAPYASCHIFELYQEDNGNFSVEMYFRNDSK
                     KAPWPLILPGCPHRCPLQDFLRLTEPVIPKDWQKECQLANDTADTEVIVALAVCGSIL
                     FLLIVLLLTILFRMQAQPPGYHHVADREDHA"
     exon            138..233
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            234..320
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            321..473
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            474..572
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            573..662
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            663..795
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            796..878
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            879..985
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            986..1161
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..4653
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2010..2015
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /note="hexamer: AATGAA"
     polyA_site      2029
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
     regulatory      2669..2674
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /note="hexamer: AATAAA"
     polyA_site      2700
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
     regulatory      4628..4633
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /note="hexamer: ATTAAA"
     polyA_site      4650
                     /gene="Acp2"
                     /gene_synonym="Acp-2; LAP"
                     /note="major polyA site"
ORIGIN      
        1 ttgctacaca gcctacaaca gtgatggccg gcagacagac tggttggagc caggcggctc
       61 ttctccagtt ccttcttggc atgtgcctaa cggtgatgcc acccatacag gcccggagtc
      121 tacgctttgt taccttgctg tatcgacatg gagatcggtc accagtgaag acatatccca
      181 aggaccccta tcaggaagag aaatggcccc agggatttgg tcagctaacc aaggaaggga
      241 tgctacagca ctgggagctg ggccaggccc tgcggcaacg ctaccatggc tttctgaaca
      301 cctcttacca caggcaagag gtttatgtgc gaagcacaga cttcgatcgt actctcatga
      361 gtgctgaggc caacctggct ggactcttcc ctcccaatga agttcagcac ttcaacccta
      421 acatttcatg gcagcctatc cctgttcaca ctgtgcccat cactgaagac aggttgctga
      481 agtttccttt gggtccatgt ccccgttatg agcagctgca gaatgagact cggcagacac
      541 cagagtatca gaacagaagt attcagaatg cacaatttct gaacatggtg gccaacgaga
      601 cagggcttac aaacgtgacc ctagagacca tctggaatgt gtatgacaca ctcttttgtg
      661 agcaaaccca tgggctgctt ctgccgccct gggcctcacc ccaaaccgtg cagcgtctga
      721 gccagctaaa ggacttcagc ttcctcttcc tcttcgggat ccacgagcaa gtacagaagg
      781 cccggcttca ggggggagtt ctgctggctc agatattgaa gaacctgacc ctaatggcaa
      841 ctacctctca attccctaag cttctggttt attccgcgca tgacactacc ctggttgctc
      901 tgcaaatggc attgaatgtc tacaatggga agcaagctcc ctatgcttcc tgccacatat
      961 ttgaactgta ccaggaagat aatgggaatt tctcagtcga gatgtacttt cggaatgaca
     1021 gtaagaaggc accctggcct ctgatcctgc ctggctgtcc tcaccgttgc ccactgcagg
     1081 atttccttcg cctcacagag cctgtcatac ccaaggactg gcagaaggag tgccagctag
     1141 caaatgatac tgcagacaca gaggtaattg tggcattggc tgtctgtggc tccatcctct
     1201 tccttctcat agtgttgctc ctcaccatcc tcttccggat gcaggcccag cctcctggct
     1261 accaccatgt tgcagacagg gaagaccatg cttgacaacc actcagtccc cttccctctg
     1321 cctcctaggg gaggtgggct gagtcctcgc tcctgaccat tgctgatccc agcccaggga
     1381 cagggttagc cttcctgatt acctacgccc aaatgaatga gtgaggctcg gctgggtgtg
     1441 cggcacctgg ggctcaccat cttcatgcct gatgtttacc gtgtactgtg ttggacactg
     1501 gctttctcta aatgggattt gcctcttcta tattccctaa ggacttgaga tgcagacaag
     1561 cattcagatt tcactcaaga cctgggacta aaaaacaaaa caacaaaacc cccatgaaaa
     1621 cctgaagaag ctggtacttg atctgccttg ctcttccacc gagccttgct ctttatcttc
     1681 tagcccatat ctttggcaaa tggcttggag gacattgtcc cttggtactt ttttagaggc
     1741 aaaaactgca aatcactagg agtataaaat atggctatca agaactcggg tcatccaaca
     1801 gcaaagtcat cctttggctg aggctaccgt cagtgtcaac cacaggcagg tctgaaggat
     1861 acttgggctg tacctggatg acagtgggag gacacaggta ggagtgaaac acatggaatc
     1921 atgaggtgac tctcctcagc tgggctggac tcttcaggga ccgtacacct tgaccgtggc
     1981 cccaaatagg gctgaagtag ctccgaggaa atgaaggttt tgactgtgag tgctggttct
     2041 gtgccttttt tcccttcccc atttctgaca tccaagaagc actcttacca ggtcagtact
     2101 agatctactc agaaaccctg ttgggctttt gggtttttag ttagatacaa aggatatgct
     2161 tttattggcc atgctaaaat tgaacataaa agttttaaaa ttctctggtt attttgctcc
     2221 tatacatcag aaaaaagaaa agtaccttgg ctctagcata aacttggcct ccaggctaga
     2281 tatagctggg accctgagcg tagctggttt actctttaat tttctggagc aaaatctaga
     2341 gcagtaacat gtcagcatcc tagtcccaca gtatcccttg tcacaagtgt ccctgctcca
     2401 accctaagaa ttgggtactt ttggcctatt aacaaacagc tgccactcct cacagaatgt
     2461 gttcccatct gtggggtcca gtattgctgt cccacaccat cttcatagtc tttcatgatc
     2521 tttctgtgac ccatcttcct cttggctcca aatgagaata tgataaccta gaagaaacaa
     2581 gaagtctgaa tgacaccttc tgttgctggt ctgtctcaga ggttggggct gtcttgggga
     2641 actaacagac tgacattgcc atgactaaaa taaaaccaga tgggtgacct aggccagata
     2701 ccactgtctc caagatatat ttactgccca ctgccctggg acgaataggg cagagctacg
     2761 gtgaattcag cctccactgc agcctcggat agggccaggc ttagacagtt tgagatacag
     2821 ttgcttttac tcacccatag tagaggccag tgtgtctccc ataggattga actcattgag
     2881 ctacaaaagt aagagtatcg gtgtgaagct gggttgaagg cagtacagag gcagtaaatg
     2941 gggactactt ctaatgagaa attccctgct tcctcccatc actgtttggg ggcccaagtc
     3001 tcaccgaagt aataccggag tatcctggat catagagctg acacatcatc ttccctgagc
     3061 ttccatcaaa cacatctatt gtccttagtt catagggaac acaactttta agattaggat
     3121 ctgggtatcg gcccacaaca atgaggttgt gccgtgaatg ccaggtcgcc taggaaacag
     3181 agaggtcagt cagaatttaa agtatttttt ggagttaggg acgaggactt ggttggtata
     3241 agtacacttg agtttggatc cccagcattc ctatacaaat cttgtcctga tgcacctgaa
     3301 ttccagctgg gggtggagac aggatgccca gaacttgcta gctatctact ccagccaaat
     3361 cagtgggttc caggtacagt gagaaaccgt ttcaaaaata agatggagaa caactgagaa
     3421 agacacctgc tgtcaacctc tagccttcac acacaaagta ttttttaagg gctggatatc
     3481 cagttctgtg gcagagcacc tatatagcat acacaaggct gtatgtttga tcgcagaatc
     3541 tcacacacag gccagcctgg tctgcacaga aaccctgtct tgaaaaaaca aaagtctgaa
     3601 caaggataat gggaaaacat ttgttaagag ccagaggtgt taagtggtaa agatcttact
     3661 tagcatgcac aagtgttcag tccccagaat tgcaaaaaaa aaaaaaaaca aaaatgccca
     3721 agttggtatc atcttaagaa actgcaagag aaaagctggg ctgtggtggt gcacgccttt
     3781 aatcccagca cttgggaggc agaggcaagc ggatttgagt tcgaggccag cctggtctac
     3841 aaagtgagtt ccaggacagc aagggctaca cagagaaact gtcttgaaaa aaaaagagag
     3901 agaaagagag agagagaaag aaagaaacta taagagagga gctagagaga tgactcagtg
     3961 gttaagaaca catgctattc ttgcagaggg aacctgagtt taattcctag tacctacatg
     4021 ccagctcata actgtctgta actccacttc caggtgatac agtgccctct tctggactat
     4081 atacatacac agtgagtgta tatgacaata tatgtatata tgcatatttt tctctttttt
     4141 taacagctca taggtcaaga agaatccaat actgcatata agacaagtat gagggctgac
     4201 tagatcactc agcagataaa ggcatctgat cccaaccaag cctgataacc tgagtttgat
     4261 ccccagagtc catgttgtgg gagggaaaaa ccaactctgc ccactgtggc atgagggtat
     4321 aggcacacac ataacattaa taaataaaag tggttttggt ttttaaaaga cttctctgtg
     4381 taaacctggc tgccctggtt tacatagtca ggctagccag gactattgca tatgtaggag
     4441 gggacttaaa agtgagttgc cctacattgt acatacttgc tttccaggtc cttaggatgc
     4501 ctcagacctt ttctcttctt ttattttaaa gatattttaa aaccgatttt tgtatatatc
     4561 ttactctatg tactcctggc tgtcctgaaa cttgctctgt agatccagat ggcctcaaac
     4621 tactgggatt aaaggcatga accaccacca ccaaaaaaaa aaaaaaaaa
//
