LOCUS       NM_007431               2524 bp    mRNA    linear   ROD 03-APR-2024
DEFINITION  Mus musculus alkaline phosphatase, liver/bone/kidney (Alpl),
            transcript variant 1, mRNA.
ACCESSION   NM_007431
VERSION     NM_007431.3
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 2524)
  AUTHORS   Pendleton,E.G., Nichenko,A.S., Mcfaline-Figueroa,J.,
            Raymond-Pope,C.J., Schifino,A.G., Pigg,T.M., Barrow,R.P.,
            Greising,S.M., Call,J.A. and Mortensen,L.J.
  TITLE     Compromised Muscle Properties in a Severe Hypophosphatasia Murine
            Model
  JOURNAL   Int J Mol Sci 24 (21), 15905 (2023)
   PUBMED   37958888
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2524)
  AUTHORS   Vaghjiani,V.G., Cochrane,C.R., Jayasekara,W.S.N., Chong,W.C.,
            Szczepny,A., Kumar,B., Martelotto,L.G., McCaw,A., Carey,K.,
            Kansara,M., Thomas,D.M., Walkley,C., Mudge,S., Gough,D.J.,
            Downie,P.A., Peacock,C.D., Matsui,W., Watkins,D.N. and Cain,J.E.
  TITLE     Ligand-dependent hedgehog signaling maintains an undifferentiated,
            malignant osteosarcoma phenotype
  JOURNAL   Oncogene 42 (47), 3529-3541 (2023)
   PUBMED   37845394
REFERENCE   3  (bases 1 to 2524)
  AUTHORS   Ohkura,N., Nam,H.K., Liu,F. and Hatch,N.
  TITLE     Cranial Neural Crest Specific Deletion of Alpl (TNAP) via P0-Cre
            Causes Abnormal Chondrocyte Maturation and Deficient Cranial Base
            Growth
  JOURNAL   Int J Mol Sci 24 (20), 15401 (2023)
   PUBMED   37895082
  REMARK    GeneRIF: Cranial Neural Crest Specific Deletion of Alpl (TNAP) via
            P0-Cre Causes Abnormal Chondrocyte Maturation and Deficient Cranial
            Base Growth.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2524)
  AUTHORS   Brun-Heath,I., Ermonval,M., Chabrol,E., Xiao,J., Palkovits,M.,
            Lyck,R., Miller,F., Couraud,P.O., Mornet,E. and Fonta,C.
  TITLE     Differential expression of the bone and the liver tissue
            non-specific alkaline phosphatase isoforms in brain tissues
  JOURNAL   Cell Tissue Res 343 (3), 521-536 (2011)
   PUBMED   21191615
  REMARK    GeneRIF: Data show that alkaline phosphatase (AP) activity in brain
            vessels and parenchyma in which AP exhibits specific patterns is
            attributable to TNAP.
REFERENCE   5  (bases 1 to 2524)
  AUTHORS   Ciancaglini,P., Yadav,M.C., Simao,A.M., Narisawa,S., Pizauro,J.M.,
            Farquharson,C., Hoylaerts,M.F. and Millan,J.L.
  TITLE     Kinetic analysis of substrate utilization by native and TNAP-,
            NPP1-, or PHOSPHO1-deficient matrix vesicles
  JOURNAL   J Bone Miner Res 25 (4), 716-723 (2010)
   PUBMED   19874193
  REMARK    GeneRIF: Tissue-nonspecific alkaline phosphatase is the enzyme that
            hydrolyzes both ATP and inorganic pyrophosate in matrix vesicles.
REFERENCE   6  (bases 1 to 2524)
  AUTHORS   Hough,T.A., Polewski,M., Johnson,K., Cheeseman,M., Nolan,P.M.,
            Vizor,L., Rastan,S., Boyde,A., Pritzker,K., Hunter,A.J.,
            Fisher,E.M., Terkeltaub,R. and Brown,S.D.
  TITLE     Novel mouse model of autosomal semidominant adult hypophosphatasia
            has a splice site mutation in the tissue nonspecific alkaline
            phosphatase gene Akp2
  JOURNAL   J Bone Miner Res 22 (9), 1397-1407 (2007)
   PUBMED   17539739
  REMARK    GeneRIF: alkaline phosphatase 2(Hpp/Hpp) mice develop late-onset
            skeletal disease, notably defective endochondral ossification and
            bone mineralization that leads to arthropathies of knees and
            shoulders
REFERENCE   7  (bases 1 to 2524)
  AUTHORS   Henthorn,P.S., Raducha,M., Fedde,K.N., Lafferty,M.A. and Whyte,M.P.
  TITLE     Different missense mutations at the tissue-nonspecific alkaline
            phosphatase gene locus in autosomal recessively inherited forms of
            mild and severe hypophosphatasia
  JOURNAL   Proc Natl Acad Sci U S A 89 (20), 9924-9928 (1992)
   PUBMED   1409720
REFERENCE   8  (bases 1 to 2524)
  AUTHORS   Rohdewohld,H. and Gruss,P.
  TITLE     The gene for the POU domain transcription factor Oct-6 maps to the
            distal end of mouse chromosome 4
  JOURNAL   Mamm Genome 3 (2), 119-121 (1992)
   PUBMED   1352157
REFERENCE   9  (bases 1 to 2524)
  AUTHORS   Studer,M., Terao,M., Gianni,M. and Garattini,E.
  TITLE     Characterization of a second promoter for the mouse
            liver/bone/kidney-type alkaline phosphatase gene: cell and tissue
            specific expression
  JOURNAL   Biochem Biophys Res Commun 179 (3), 1352-1360 (1991)
   PUBMED   1930180
REFERENCE   10 (bases 1 to 2524)
  AUTHORS   Terao,M. and Mintz,B.
  TITLE     Cloning and characterization of a cDNA coding for mouse placental
            alkaline phosphatase
  JOURNAL   Proc Natl Acad Sci U S A 84 (20), 7051-7055 (1987)
   PUBMED   3478679
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL807764.9, AK164002.1,
            AK167023.1 and AL805954.9.
            
            [WARNING] On Apr 23, 2024 this sequence was replaced by
            NM_007431.4.
            
            On Dec 4, 2013 this sequence version replaced NM_007431.2.
            
            Summary: This gene encodes a preproprotein that is proteolytically
            cleaved to yield a signal peptide and a proproptein that is
            subsequently processed to generate the active mature peptide. The
            encoded protein is a membrane-bound glycosylated enzyme that
            catalyzes the hydrolysis of phosphate esters at alkaline pH. The
            mature peptide maintains the ratio of inorganic phosphate to
            inorganic pyrophosphate required for bone mineralization. Mice that
            lack this enzyme show symptoms of osteomalacia, softening of the
            bones. In humans, mutations in this gene are associated with
            hypophosphatasia, an inherited metabolic bone disease in which
            deficiency of this enzyme inhibits bone mineralization leading to
            skeletal defects. Mutations in the mouse gene mirror the symptoms
            of human hypophosphatasia. A pseudogene of this gene is present on
            chromosome X. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2015].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript. Both variants 1 and 2 encode the same protein.
            
            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 :: BC065175.1, AK167481.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849385, SAMN01164134
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-6                 AL807764.9         49461-49466         c
            7-65                AK164002.1         1-59
            66-194              AK167023.1         2-130
            195-195             AL807764.9         11763-11763         c
            196-2522            AK167023.1         131-2457
            2523-2524           AL805954.9         120361-120362       c
FEATURES             Location/Qualifiers
     source          1..2524
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="4"
                     /map="4 70.02 cM"
     gene            1..2524
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /note="alkaline phosphatase, liver/bone/kidney"
                     /db_xref="GeneID:11647"
                     /db_xref="MGI:MGI:87983"
     exon            1..143
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            144..304
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     CDS             244..1818
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /EC_number="3.1.3.1"
                     /EC_number="3.9.1.1"
                     /note="alkaline phosphatase 2, liver; alkaline
                     phosphatase, tissue-nonspecific isozyme; phosphoamidase;
                     phosphocreatine phosphatase"
                     /codon_start=1
                     /product="alkaline phosphatase, tissue-nonspecific isozyme
                     preproprotein"
                     /protein_id="NP_031457.2"
                     /db_xref="CCDS:CCDS18821.1"
                     /db_xref="GeneID:11647"
                     /db_xref="MGI:MGI:87983"
                     /translation="MISPFLVLAIGTCLTNSFVPEKERDPSYWRQQAQETLKNALKLQ
                     KLNTNVAKNVIMFLGDGMGVSTVTAARILKGQLHHNTGEETRLEMDKFPFVALSKTYN
                     TNAQVPDSAGTATAYLCGVKANEGTVGVSAATERTRCNTTQGNEVTSILRWAKDAGKS
                     VGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMHNIKDIDVI
                     MGGGRKYMYPKNRTDVEYELDEKARGTRLDGLDLISIWKSFKPRHKHSHYVWNRTELL
                     ALDPSRVDYLLGLFEPGDMQYELNRNNLTDPSLSEMVEVALRILTKNLKGFFLLVEGG
                     RIDHGHHEGKAKQALHEAVEMDQAIGKAGAMTSQKDTLTVVTADHSHVFTFGGYTPRG
                     NSIFGLAPMVSDTDKKPFTAILYGNGPGYKVVDGERENVSMVDYAHNNYQAQSAVPLR
                     HETHGGEDVAVFAKGPMAHLLHGVHEQNYIPHVMAYASCIGANLDHCAWAGSGSAPSP
                     GALLLPLAVLSLRTLF"
     exon            305..424
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            425..540
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            541..715
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            716..891
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1035
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            1036..1105
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            1106..1240
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1432
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            1433..1552
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
     exon            1553..2524
                     /gene="Alpl"
                     /gene_synonym="Akp-2; Akp2; ALP; APTNAP; TNAP; TNSALP"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gggcggggag gccggcgggt gctcggccag gccgccttca taagcaggcg ggggaggtgg
       61 ccgccagagt acgctcccgc cactgcgctc cttagggctg ccgctcgcga gccggaacag
      121 accctcccca cgagtgcctg caggatcgga acgtcaatta acgtcaatta acatctgacg
      181 ctgccccccc ccccctcttc ccaccatctg ggctccagcg agggacgaat ctcagggtac
      241 accatgatct caccattttt agtactggcc atcggcacct gccttaccaa ctcttttgtg
      301 ccagagaaag agagagaccc cagttactgg cgacagcaag cccaagagac cttgaaaaat
      361 gccctgaaac tccaaaagct caacaccaat gtagccaaga atgtcatcat gttcctggga
      421 gatggtatgg gcgtctccac agtaaccgct gcccgaatcc ttaagggcca gctacaccac
      481 aacacgggcg aggagacccg gctggagatg gacaaattcc cctttgtggc cctctccaag
      541 acatataaca ccaacgctca ggtccctgac agcgcgggca ctgccactgc ctacttgtgt
      601 ggcgtgaagg ccaacgaggg cacagtggga gtgagcgcag ccacagagcg cacgcgatgc
      661 aacaccactc agggcaatga ggtcacatcc atcctgcgct gggccaagga tgctgggaag
      721 tccgtgggca ttgtgactac cactcgggtg aaccacgcca cacccagtgc agcctacgca
      781 cactcggccg atcgggactg gtactcggat aacgagatgc caccagaggc tctgagccag
      841 ggctgcaagg acatcgcata tcagctaatg cacaatatca aggatatcga cgtgatcatg
      901 ggtggcggcc ggaaatacat gtacccgaag aacagaactg atgtggaata cgaactggat
      961 gagaaggcca ggggtacaag gctagatggc ctggatctca tcagtatttg gaagagcttt
     1021 aaacccagac acaagcattc ccactatgtc tggaaccgca ctgaactgct ggcccttgac
     1081 ccctccaggg tggactacct cttaggtctc tttgagcccg gggacatgca gtatgaattg
     1141 aatcggaaca acctgactga cccttcgctc tccgagatgg tggaggtggc cctccggatc
     1201 ctgaccaaaa acctcaaagg cttcttcttg ctggtggaag gaggcaggat tgaccacgga
     1261 catcatgagg gtaaggccaa gcaggctctg catgaagcag tggagatgga ccaggccatt
     1321 ggcaaggcag gcgccatgac atcccagaaa gacaccttga ctgtggttac tgctgatcat
     1381 tcccacgttt tcacattcgg tggatacacc ccccggggca actccatctt tggtctggct
     1441 cccatggtga gcgacacgga caagaagccc ttcacggcca tcctatatgg taacgggcct
     1501 ggctacaagg tggtggacgg tgaacgggaa aatgtctcca tggtagatta cgctcacaac
     1561 aactaccagg cccagtccgc tgttcccctg cgccatgaga cccacggtgg agaagacgtg
     1621 gcggtctttg ccaagggccc gatggcacac ctgcttcacg gcgtccatga gcagaactac
     1681 attccccatg tgatggcgta tgcctcctgc attggggcca accttgacca ctgtgcctgg
     1741 gccggctctg ggagcgcacc ctccccaggg gccctgctgc ttccactggc tgtgctctcc
     1801 ctacgcaccc tgttctgagg gtgcaggtcc cacaagcccg caatggacag ccagctcccc
     1861 tccttttgtg gcccaccacc gggcagccca cactcaaggg agaggtccag gcaacttcca
     1921 gcaggaacag aagttcgcta tctgccttgc ctgtatctgg aatcctccat gggccagatt
     1981 cctggctctg cctttattcc ctagttattg ccctttggcc agcaggtttc tctcttgggc
     2041 aggcaagaca cagactgcac agattcccaa agcaccttat ttttctacca aatatattct
     2101 ccagaccctg caacctccat ggaacattcc agatctgacc ttctctcctc catcccttcc
     2161 cttccctctg gaacactggg ccccatagtc acggccagtc ctcaagccca accctccctg
     2221 gggggaagac caggtctgct caggatgaga ctcccaggaa gccacctccg gggttggctg
     2281 tctacccagg gttgccaagc tgggaagaac actccagccg gacaggacac acacacacac
     2341 tccccaccca attgcagaga ctcgccaacc cttcactgaa gtggctctcc tgtttggaat
     2401 agcggggtgg ggtgggggag aagaaagaaa gaaagaaaaa aaatttttaa tttctctttt
     2461 tggtgttggt taaaagggaa cacaagacat ttaaataaaa catcccaaat atttctgagg
     2521 ccag
//
