LOCUS       NP_035207                749 aa            linear   ROD 11-DEC-2024
DEFINITION  phosphate-regulating neutral endopeptidase PHEX [Mus musculus].
ACCESSION   NP_035207 XP_895950
VERSION     NP_035207.1
DBSOURCE    REFSEQ: accession NM_011077.2
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  (residues 1 to 749)
  AUTHORS   Sorsby,M., Almardini,S., Alayyat,A., Hughes,A., Venkat,S.,
            Rahman,M., Baker,J., Rana,R., Rosen,V. and Liu,E.S.
  TITLE     The role of GDF5 in regulating enthesopathy development in the Hyp
            mouse model of XLH
  JOURNAL   J Bone Miner Res 39 (8), 1162-1173 (2024)
   PUBMED   38836497
REFERENCE   2  (residues 1 to 749)
  AUTHORS   Almubarak,A., Zhang,Q., Zhang,C.H., Abdelwahab,N., Kume,T.,
            Lassar,A.B. and Berry,F.B.
  TITLE     FOXC1 and FOXC2 regulate growth plate chondrocyte maturation
            towards hypertrophy in the embryonic mouse limb skeleton
  JOURNAL   Development 151 (16) (2024)
   PUBMED   39012257
REFERENCE   3  (residues 1 to 749)
  AUTHORS   Wu,H., Ying,H., Zhao,W., Sun,Y., Wang,Y., Chen,X., Li,G., Yao,Y.,
            Xu,S., Li,T., Fang,L., Sun,X., Wang,N., Xu,J., Guan,Q., Xia,W.,
            Wang,L., Gao,L., Zhao,J. and Xu,C.
  TITLE     Characterization of Novel PHEX Variants in X-linked
            Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation
  JOURNAL   J Clin Endocrinol Metab 109 (9), 2242-2255 (2024)
   PUBMED   38442738
  REMARK    GeneRIF: Characterization of Novel PHEX Variants in X-linked
            Hypophosphatemic Rickets and Genotype-PHEX Activity Correlation.
REFERENCE   4  (residues 1 to 749)
  AUTHORS   Nakanishi,T., Yamazaki,M., Tachikawa,K., Ueta,A., Kawai,M.,
            Ozono,K. and Michigami,T.
  TITLE     Complex intrinsic abnormalities in osteoblast lineage cells of
            X-linked hypophosphatemia: Analysis of human iPS cell models
            generated by CRISPR/Cas9-mediated gene ablation
  JOURNAL   Bone 181, 117044 (2024)
   PUBMED   38331306
REFERENCE   5  (residues 1 to 749)
  AUTHORS   Yadav,P.S., Kobelski,M.M., Martins,J.S., Tao,T., Liu,E.S. and
            Demay,M.B.
  TITLE     Impaired Growth Plate Maturation in XLH Is due to Both Excess FGF23
            and Decreased 1,25-Dihydroxyvitamin D Signaling
  JOURNAL   Endocrinology 165 (1) (2023)
   PUBMED   38066669
REFERENCE   6  (residues 1 to 749)
  AUTHORS   Gonzalez,C.D., Meyer,R.A. Jr. and Iorio,R.J.
  TITLE     Craniometric measurements of craniofacial malformations in the
            X-linked hypophosphatemic (Hyp) mouse on two different genetic
            backgrounds: C57BL/6J and B6C3H
  JOURNAL   Teratology 46 (6), 605-613 (1992)
   PUBMED   1290161
REFERENCE   7  (residues 1 to 749)
  AUTHORS   Cowgill,L.D., Goldfarb,S., Lau,K., Slatopolsky,E. and Agus,Z.S.
  TITLE     Evidence for an intrinsic renal tubular defect in mice with genetic
            hypophosphatemic rickets
  JOURNAL   J Clin Invest 63 (6), 1203-1210 (1979)
   PUBMED   221535
REFERENCE   8  (residues 1 to 749)
  AUTHORS   Tenenhouse,H.S. and Scriver,C.R.
  TITLE     The defect in transcellular transport of phosphate in the nephron
            is located in brush-border membranes in X-linked hypophosphatemia
            (Hyp mouse model)
  JOURNAL   Can J Biochem 56 (6), 640-646 (1978)
   PUBMED   566613
REFERENCE   9  (residues 1 to 749)
  AUTHORS   O'Doherty,P.J., DeLuca,H.F. and Eicher,E.M.
  TITLE     Lack of effect of vitamin D and its metabolites on intestinal
            phosphate transport in familial hypophosphatemia of mice
  JOURNAL   Endocrinology 101 (4), 1325-1330 (1977)
   PUBMED   908280
REFERENCE   10 (residues 1 to 749)
  AUTHORS   Eicher,E.M., Southard,J.L., Scriver,C.R. and Glorieux,F.H.
  TITLE     Hypophosphatemia: mouse model for human familial hypophosphatemic
            (vitamin D-resistant) rickets
  JOURNAL   Proc Natl Acad Sci U S A 73 (12), 4667-4671 (1976)
   PUBMED   188049
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK158481.1, U49908.1 and CT572987.3.
            
            On Dec 7, 2005 this sequence version replaced XP_895950.1.
            
            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 :: U49908.1, U73910.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..749
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="X"
                     /map="X 72.38 cM"
     Protein         1..749
                     /product="phosphate-regulating neutral endopeptidase PHEX"
                     /note="X-linked phosphate regulating endopeptidase;
                     vitamin D-resistant hypophosphatemic rickets protein;
                     X-linked hypophosphatemia protein; phosphate regulating
                     neutral endopeptidase; Metalloendopeptidase homolog PEX
                     (Phosphate regulating neutral endopeptidase) (X-linked
                     hypophosphatemia protein) (HYP) (Vitamin D-resistant
                     hypophosphatemic rickets protein); phosphate regulating
                     gene with homologies to endopeptidases on the X chromosome
                     (hypophosphatemia, vitamin D resistant rickets)"
                     /calculated_mol_wt=86288
     Site            21..37
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (P70669.1)"
     Site            71
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Region          74..740
                     /region_name="M13"
                     /note="Peptidase family M13 includes neprilysin and
                     endothelin-converting enzyme I; cd08662"
                     /db_xref="CDD:341056"
     Site            order(104,532,537..540,559,576..577,580..581,584,642,688,
                     691..692,709..710,716)
                     /site_type="active"
                     /db_xref="CDD:341056"
     Site            238
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            263
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            290
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            301
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            377
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            484
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     Site            736
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (P70669.1)"
     CDS             1..749
                     /gene="Phex"
                     /gene_synonym="Gy; HPDR; HPDR1; Hyp; PEX"
                     /coded_by="NM_011077.2:531..2780"
                     /db_xref="CCDS:CCDS30497.1"
                     /db_xref="GeneID:18675"
                     /db_xref="MGI:MGI:107489"
ORIGIN      
        1 meaetgstme tgkgtnrgir ialalfiggt lvlgtllflv sqgllsfqak qeyclkpeci
       61 eaaaaimskv nlsvdpcenf frfacdgwis nnpipedmps ygvypwlrhn vdlklkalle
      121 ksvsrrrdte avqkakilys scmnekaiek adakpllhil rhspfrwpvl eanigpegvw
      181 serkfsllqt latfrgqysn svfirlyvsp ddkasnehil kldqatlsla vredfldntt
      241 eaksyrdaly kfmvdtavll ganssraehd mksvlrleik iaeimiphen rtseamynkm
      301 niselsamip qfdwlgyikk vidtrlyphl kdigpsenvv vrvpqyfkdl frilgaerkk
      361 tianylvwrm vysripnlsr rfqyrwlefs rviqgtttll pqwdkcvnfi esalpyvvgk
      421 mfvnvhfqed kkemmeelie gvrwafidml ekenewmdag tkrkaqekar avlakvgype
      481 fimndtyvne dlkaikfses dyfgnvlqtr kylaqsdffw lrkavpktew ftnpttvnaf
      541 ysastnqirf pagelqkpff wgteyprsls ygaigvivgh efthgfdnng rkydkngnld
      601 pwwsveseek fkektkcmin qysnyywkka glnvkgkrtl geniadnggl reafrayrkw
      661 indrrqgvee pllpgitftn nqlfflsyah vrcnsyrpea areqvqigah sppqfrvnga
      721 isnfeefqka fncprnstmn rgadscrlw
//
