LOCUS       NM_013004               4237 bp    mRNA    linear   ROD 31-MAR-2024
DEFINITION  Rattus norvegicus phosphate regulating endopeptidase X-linked
            (Phex), mRNA.
ACCESSION   NM_013004
VERSION     NM_013004.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 4237)
  AUTHORS   Chen,X., Cai,C., Lun,S., Ye,Q., Pan,W., Chen,Y., Wu,Y., Feng,T.,
            Su,F., Ma,C., Luo,J., Liu,M. and Ma,G.
  TITLE     The contribution of a novel PHEX gene mutation to X-linked
            hypophosphatemic rickets: a case report and an analysis of the gene
            mutation dosage effect in a rat model
  JOURNAL   Front Endocrinol (Lausanne) 14, 1251718 (2023)
   PUBMED   38116308
  REMARK    GeneRIF: The contribution of a novel PHEX gene mutation to X-linked
            hypophosphatemic rickets: a case report and an analysis of the gene
            mutation dosage effect in a rat model.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4237)
  AUTHORS   Koehne,T., Marshall,R.P., Jeschke,A., Kahl-Nieke,B., Schinke,T. and
            Amling,M.
  TITLE     Osteopetrosis, osteopetrorickets and hypophosphatemic rickets
            differentially affect dentin and enamel mineralization
  JOURNAL   Bone 53 (1), 25-33 (2013)
   PUBMED   23174213
REFERENCE   3  (bases 1 to 4237)
  AUTHORS   Owen,C., Chen,F., Flenniken,A.M., Osborne,L.R., Ichikawa,S.,
            Adamson,S.L., Rossant,J. and Aubin,J.E.
  TITLE     A novel Phex mutation in a new mouse model of hypophosphatemic
            rickets
  JOURNAL   J Cell Biochem 113 (7), 2432-2441 (2012)
   PUBMED   22573557
REFERENCE   4  (bases 1 to 4237)
  AUTHORS   Pellicelli,M., Taheri,M., St-Louis,M., Beriault,V.,
            Desgroseillers,L., Boileau,G. and Moreau,A.
  TITLE     PTHrP(1-34)-mediated repression of the PHEX gene in osteoblastic
            cells involves the transcriptional repressor E4BP4
  JOURNAL   J Cell Physiol 227 (6), 2378-2387 (2012)
   PUBMED   21826652
REFERENCE   5  (bases 1 to 4237)
  AUTHORS   Megerian,C.A., Semaan,M.T., Aftab,S., Kisley,L.B., Zheng,Q.Y.,
            Pawlowski,K.S., Wright,C.G. and Alagramam,K.N.
  TITLE     A mouse model with postnatal endolymphatic hydrops and hearing loss
  JOURNAL   Hear Res 237 (1-2), 90-105 (2008)
   PUBMED   18289812
REFERENCE   6  (bases 1 to 4237)
  AUTHORS   Francis,F., Strom,T.M., Hennig,S., Boddrich,A., Lorenz,B.,
            Brandau,O., Mohnike,K.L., Cagnoli,M., Steffens,C., Klages,S.,
            Borzym,K., Pohl,T., Oudet,C., Econs,M.J., Rowe,P.S., Reinhardt,R.,
            Meitinger,T. and Lehrach,H.
  TITLE     Genomic organization of the human PEX gene mutated in X-linked
            dominant hypophosphatemic rickets
  JOURNAL   Genome Res 7 (6), 573-585 (1997)
   PUBMED   9199930
REFERENCE   7  (bases 1 to 4237)
  AUTHORS   Holm,I.A., Huang,X. and Kunkel,L.M.
  TITLE     Mutational analysis of the PEX gene in patients with X-linked
            hypophosphatemic rickets
  JOURNAL   Am J Hum Genet 60 (4), 790-797 (1997)
   PUBMED   9106524
REFERENCE   8  (bases 1 to 4237)
  AUTHORS   Strom,T.M., Francis,F., Lorenz,B., Boddrich,A., Econs,M.J.,
            Lehrach,H. and Meitinger,T.
  TITLE     Pex gene deletions in Gy and Hyp mice provide mouse models for
            X-linked hypophosphatemia
  JOURNAL   Hum Mol Genet 6 (2), 165-171 (1997)
   PUBMED   9063736
REFERENCE   9  (bases 1 to 4237)
  AUTHORS   .
  TITLE     A gene (PEX) with homologies to endopeptidases is mutated in
            patients with X-linked hypophosphatemic rickets. The HYP Consortium
  JOURNAL   Nat Genet 11 (2), 130-136 (1995)
   PUBMED   7550339
REFERENCE   10 (bases 1 to 4237)
  AUTHORS   Matsuki,Y., Nakashima,M., Amizuka,N., Warshawsky,H., Goltzman,D.,
            Yamada,K.M. and Yamada,Y.
  TITLE     A compilation of partial sequences of randomly selected cDNA clones
            from the rat incisor
  JOURNAL   J Dent Res 74 (1), 307-312 (1995)
   PUBMED   7876422
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from
            JAXUCZ010000021.1.
            
            On Nov 27, 2020 this sequence version replaced NM_013004.1.
            
            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 :: AJ001637.1, SRR26643429.58974.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN16676784, SAMN16676785
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-593               JAXUCZ010000021.1  41425804-41426396
            594-662             JAXUCZ010000021.1  41430950-41431018
            663-824             JAXUCZ010000021.1  41438810-41438971
            825-911             JAXUCZ010000021.1  41473281-41473367
            912-1138            JAXUCZ010000021.1  41474711-41474937
            1139-1207           JAXUCZ010000021.1  41481847-41481915
            1208-1324           JAXUCZ010000021.1  41487405-41487521
            1325-1408           JAXUCZ010000021.1  41490620-41490703
            1409-1554           JAXUCZ010000021.1  41491883-41492028
            1555-1648           JAXUCZ010000021.1  41506209-41506302
            1649-1777           JAXUCZ010000021.1  41508715-41508843
            1778-1879           JAXUCZ010000021.1  41529031-41529132
            1880-1957           JAXUCZ010000021.1  41571051-41571128
            1958-2061           JAXUCZ010000021.1  41582153-41582256
            2062-2120           JAXUCZ010000021.1  41615536-41615594
            2121-2175           JAXUCZ010000021.1  41642337-41642391
            2176-2243           JAXUCZ010000021.1  41652604-41652671
            2244-2374           JAXUCZ010000021.1  41655049-41655179
            2375-2440           JAXUCZ010000021.1  41660766-41660831
            2441-2545           JAXUCZ010000021.1  41661972-41662076
            2546-2622           JAXUCZ010000021.1  41665020-41665096
            2623-4237           JAXUCZ010000021.1  41667915-41669529
FEATURES             Location/Qualifiers
     source          1..4237
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="BN"
                     /db_xref="taxon:10116"
                     /chromosome="X"
                     /map="Xq21"
     gene            1..4237
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /note="phosphate regulating endopeptidase X-linked"
                     /db_xref="GeneID:25512"
                     /db_xref="RGD:3323"
     exon            1..593
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     CDS             476..2725
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /note="Phosphate regulating neutral endopeptidase on the X
                     chromosome (X-linked hypophosphatemia XLH);
                     metalloendopeptidase homolog PEX; phosphate-regulating
                     neutral endopeptidase; phosphate regulating endopeptidase
                     homolog, X-linked; phosphate regulating gene with
                     homologies to endopeptidases on the X chromosome
                     (hypophosphatemia, vitamin D resistant rickets);
                     metalloendopeptidase homolog PEX-like"
                     /codon_start=1
                     /product="phosphate-regulating neutral endopeptidase PHEX"
                     /protein_id="NP_037136.2"
                     /db_xref="GeneID:25512"
                     /db_xref="RGD:3323"
                     /translation="MEAEAGSTMETGKGTNRGIRIALALFITGTLVLGTLLFLVSQGL
                     LSFQAKQEYCLKPECIEAAAAIMSKVNLSVDPCENFFRFACDGWISNNPIPEDMPSYG
                     VYPWLRHNVDLKLKALLEKSVSRRRDTEAVQKAKILYSSCMNEKAIEKADAKPLLHIL
                     RHSPFRWPVLEANIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEH
                     ILKLDQATLSLAVREDFLDNTTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLR
                     LEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDIG
                     PSENVVVRVPQYFKDLFRILGAERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRV
                     IQGTTTLLPQWDKCVNFIESALPYVVGKMFVNVHFQEDKKEMMEELIEGVRWAFIDML
                     EKENEWMDAGTKRKAQEKARAVLAKVGYPEFIMNDTYVNEDLKAIKFSESDYFGNVLQ
                     TRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYP
                     RSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSVDSEEKFKEKTKCMINQYSN
                     YYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGVEEPLLPGITFTNNQ
                     LFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPANSTMN
                     RGADSCRLW"
     exon            594..662
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            663..824
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            825..911
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            912..1138
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1139..1207
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1324
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1325..1408
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1554
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1555..1648
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1649..1777
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1778..1879
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1880..1957
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2061
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2120
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2121..2175
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2176..2243
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..2374
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2375..2440
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2441..2545
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2546..2622
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
     exon            2623..4237
                     /gene="Phex"
                     /gene_synonym="PEX"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gaagtggatg cggactgtcc ttgccaccta acttatcatg cttaggggga ggttgagaat
       61 ccacttgtga taaagacatt tttttcctcc ccaagtgact atacgtttaa attgctaaaa
      121 catctgtgca gcaacctagt aaaacattat aatcggaatg cttgagcaaa aagcctgcca
      181 aacaatcgct tgagaggaac tttgctgagg gagagcaccg agataaagca actgctgttt
      241 gttttgtcta gtcaagagag agccaaggca accaatattt tgtgtttctt ttatttcatt
      301 tgtgaaggat tatttgagaa agtgtgtcga ggggaagttt cctgacagga atttttaaag
      361 ctgtctatta gcagacgagc aagagagtct tgaatgtcaa atgcctgaca aactcttgag
      421 accagccacc aaaccacgaa aagtgacttt ctgagtcttc tcttcggccc ttctgatgga
      481 agcagaagca gggagcacca tggagactgg aaaggggacc aaccgaggca ttcggattgc
      541 actggccctg ttcattactg gcaccctggt gctgggcaca ctgctctttc tagtgagtca
      601 aggtctccta agtttccaag ctaaacagga gtactgcctg aagccagaat gcattgaagc
      661 cgctgctgcc atcatgagca aagtaaatct ttctgtggat ccttgtgaga attttttccg
      721 gtttgcttgt gatggctgga taagcaataa cccaattcct gaagatatgc caagctatgg
      781 ggtttatcct tggctgagac acaatgttga cctcaagttg aaggcacttc tggagaaatc
      841 agtcagtcga aggcgggaca ctgaagctgt acagaaagcc aaaatccttt attcatcctg
      901 catgaatgag aaagcgattg aaaaagcaga tgccaaacca ctgctccaca tcttgaggca
      961 ttcacctttc cgctggcccg tgcttgaagc taatattggt cctgaagggg tttggtcaga
     1021 gagaaaattc agtctactgc aaacactggc aacattccgc ggtcaataca gcaattctgt
     1081 gttcatccgt ttgtacgtgt cccctgacga caaggcatcc aatgagcata tcttgaagtt
     1141 ggaccaagca acactctccc tggctgtgag ggaagacttt ctggataaca ctaccgaagc
     1201 caaatcttat cgtgatgccc tttacaaatt catggtggac actgctgtgc ttttaggagc
     1261 taatagctct cgagctgaac atgacatgaa gtcagtgctt agactggaaa ttaagatagc
     1321 tgagataatg attccacatg agaaccgaac cagtgaggct atgtataaca aaatgaacat
     1381 ctcagagctc agtgctatga ttccccagtt tgactggctg ggctatatca agaaggtcat
     1441 tgataccaga ctctacccac acttgaaaga cattggcccc tcggagaatg tggtggtgcg
     1501 cgtcccacaa tactttaaag atttgtttag gatattaggt gctgaaagga agaaaaccat
     1561 tgccaactat ttggtgtgga gaatggttta ttccagaatt ccaaacctca gcaggcgctt
     1621 tcaatataga tggctggaat tctcaagggt aatccagggg acaacaactc tgctgcctca
     1681 gtgggacaaa tgtgttaact ttatcgaaag tgccctccct tatgttgtgg ggaaaatgtt
     1741 tgtgaatgtt cacttccagg aagataagaa ggaaatgatg gaagaattga ttgagggtgt
     1801 tcgctgggcc ttcattgaca tgctggagaa agaaaatgaa tggatggatg cagggacaaa
     1861 aaggaaagct caagaaaagg caagagctgt tttggcaaaa gttggctatc cagagtttat
     1921 aatgaatgat acttatgtta atgaagacct caaggcaatc aaattttcag aatcggacta
     1981 ctttggcaac gtactgcaaa cccgcaagta tttagcacag tctgatttct tctggctaag
     2041 aaaagctgtt cccaaaacag agtggtttac aaacccaaca acggtcaatg ccttttacag
     2101 tgcatctacc aaccagatac gatttcctgc tggagagctg cagaagcctt tcttttgggg
     2161 aacagaatac cctcgatctc tgagttacgg tgctatagga gtaattgtgg ggcacgaatt
     2221 tacacatgga tttgataata atggtagaaa atatgataaa aatggaaacc ttgatccgtg
     2281 gtggtctgtg gactctgaag aaaagtttaa ggaaaaaaca aaatgcatga ttaaccagta
     2341 tagcaactat tattggaaga aagccggctt aaatgtgaag gggaaaagga ccttgggaga
     2401 aaatattgct gataatggag gtcttcgaga agcttttagg gcttacagga aatggataaa
     2461 tgatagaaga cagggagttg aagagcccct cctaccaggc atcacattca ccaacaatca
     2521 gctcttcttc ctgagttatg ctcacgtgag gtgcaattcc tacagaccgg aagctgccag
     2581 agaacaagtc caaattggtg ctcacagtcc tccacaattt agagtcaatg gtgccattag
     2641 caactttgaa gaatttcaga aagcttttaa ctgtccggca aattccacca tgaacagagg
     2701 tgcagattcc tgccgactct ggtagctgga gtgctggttt ctgccatcct gacagagctg
     2761 aggagtgccg gtagaggagg cactcacata ctcagcacct actgcttttt gcctatattt
     2821 tgtcgaagac ttttattttt aatgcatttc tattatttgg gtagatgatt tgcttggatc
     2881 taaacagtat ctgttcaaag tcattgggtt tataaaagga atgcaagaac tgagggaaat
     2941 acatcttttt aaagtaagcc aaaccaatga aaacaagtgt caaggctatt tggttaaact
     3001 gctcttggct gatctcccct atcatccctt tatgttagcc acggctaggt ggtacctaac
     3061 atttcaatct atagctctgc agggggcctg aggagagtgt atccatagaa aggatcagtc
     3121 aatgaaaatt gtcaccctca gtgataaagt tgtgtgccct ttggtgtaca gtgattatac
     3181 aacatttctt aattctaagg tggttaaatt agaaatacgt tggaccttca ttttacagtt
     3241 tatgataaag tttttctctt caggtttgga gtctattgga caattatctc agaactttct
     3301 tcagatgtag ctaactgccc tgtttaagta atcatgaaca aagatggcat acagtcaatt
     3361 tggtaaagga tttgggtcta taaaataggg aaaaagaaca catctttaac tgccagcagt
     3421 attaaaaact attaaccacc acaataacaa ctaatcacac aacaataaag ataataggaa
     3481 atgaaatctg caaacgttga tccagtccct ccatacatca gtggacatct atctgacgga
     3541 taacaatcat ggagcagttc tgattttgtt ttgttctgct cagatatcct gactgaactg
     3601 agtagatatt gaggaaataa tattccgttt ccatgtcagg aacatatggt tttcatttcc
     3661 tttcagcatg atgatataat caccacactg aggatggagt aaaaagcctc ttccttctca
     3721 gccactttat gttacctctc cttaaaagaa aatttttgca aaagtttcta gaaagaaagc
     3781 attttggtat atatgaatcc aatttaagca atcctgtcta gatctaaagg acataacttt
     3841 actcttcaag tcttatgaag ggtttaattt ttctaaaaac agtactgtat tttgatcttt
     3901 agagcattat ttttgtaatc atcacctata gtgttaatta attaacagta ttagtgtgta
     3961 tttatgtagg ataactgtta tcacatttaa gagtgtatgt aggataaaat tataatggca
     4021 ttgaagtggt gagtatttcc tgtttttttc tattgtttta aaaattagta tagccatttt
     4081 tctacccccc cattacataa ttcattatac atggggtgct gggttaagtg ggccaataga
     4141 aaaacttcaa aagcaaaatg acaaaatcag atgaaccaca ggacttcatt ttgcatcctt
     4201 gtgacttgtc attcttttgc aaaaaaaaaa aaaaaaa
//
