(data stored in ACNUC16324 zone)

HOGENOM: HSX_PE405

ID   HSX_PE405                            STANDARD;      PRT;   749 AA.
AC   HSX_PE405; P78562; O00678; Q13646; Q2M325; Q93032; Q99827;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=Phosphate-regulating neutral endopeptidase; EC=3.4.24
DE   -;AltName: Full=Metalloendopeptidase homolog PEX;AltName: Full=Vitamin
DE   D-resistant hypophosphatemic rickets protein;AltName: Full=X-linked
DE   hypophosphatemia protein; Short=HYP; (HSX.PE405).
GN   Name=PHEX; Synonyms=PEX;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HSX.PE405.
CC       Homo sapiens chromosome X GRCh37  sequence 1..155260560 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:PHEX_HUMAN
CC   -!- FUNCTION: Probably involved in bone and dentin mineralization and
CC       renal phosphate reabsorption.
CC   -!- COFACTOR: Binds 1 zinc ion per subunit (By similarity).
CC   -!- SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane
CC       protein (Potential).
CC   -!- TISSUE SPECIFICITY: Lymphocytes and fetal brain; not in adult
CC       brain, placenta, skeletal muscle and pancreas; not in adult and
CC       fetal heart, lung, liver and kidney.
CC   -!- DISEASE: Defects in PHEX are a cause of X-linked hypophosphatemic
CC       rickets (HYP) [MIM:307800]. HYP is an X-linked dominant disorder
CC       characterized by impaired phosphate uptake in the kidney, which is
CC       likely to be caused by abnormal regulation of sodium phosphate
CC       cotransport in the proximal tubules. Clinical manifestations
CC       include skeletal deformities, growth failure, craniosynostosis,
CC       paravertebral calcifications, pseudofractures in lower
CC       extremities, and muscular hypotonia with onset in early childhood.
CC       X-linked hypophosphatemic rickets is the most common form of
CC       hypophosphatemia with an incidence of 1 in 20000.
CC   -!- SIMILARITY: Belongs to the peptidase M13 family.
CC   -!- WEB RESOURCE: Name=PHEXdb;
CC       URL="http://www.phexdb.mcgill.ca/";
CC   -!- WEB RESOURCE: Name=GeneReviews;
CC       URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHEX";
CC   -!- GENE_FAMILY: HOG000245574 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000102174;ENST00000379374;ENSP00000368682.
DR   EMBL; AD000712; - ;
DR   EMBL; AK298030; - ;
DR   EMBL; AK301528; - ;
DR   EMBL; AK304551; - ;
DR   EMBL; BC105057; - ;
DR   EMBL; BC105059; - ;
DR   EMBL; GU111712; - ;
DR   EMBL; U60475; - ;
DR   EMBL; U73024; - ;
DR   EMBL; U75645; - ;
DR   EMBL; U81167; - ;
DR   EMBL; U81168; - ;
DR   EMBL; U81169; - ;
DR   EMBL; U81171; - ;
DR   EMBL; U81172; - ;
DR   EMBL; U81173; - ;
DR   EMBL; U81174; - ;
DR   EMBL; U81175; - ;
DR   EMBL; U81176; - ;
DR   EMBL; U81177; - ;
DR   EMBL; U81178; - ;
DR   EMBL; U81179; - ;
DR   EMBL; U81180; - ;
DR   EMBL; U81181; - ;
DR   EMBL; U81182; - ;
DR   EMBL; U81183; - ;
DR   EMBL; U82970; - ;
DR   EMBL; U86611; - ;
DR   EMBL; U87284; - ;
DR   EMBL; Y08111; - ;
DR   EMBL; Y08112; - ;
DR   EMBL; Y08113; - ;
DR   EMBL; Y08114; - ;
DR   EMBL; Y08115; - ;
DR   EMBL; Y08116; - ;
DR   EMBL; Y08117; - ;
DR   EMBL; Y08118; - ;
DR   EMBL; Y08119; - ;
DR   EMBL; Y08120; - ;
DR   EMBL; Y08121; - ;
DR   EMBL; Y08122; - ;
DR   EMBL; Y08123; - ;
DR   EMBL; Y08124; - ;
DR   EMBL; Y08125; - ;
DR   EMBL; Y08126; - ;
DR   EMBL; Y08127; - ;
DR   EMBL; Y08128; - ;
DR   EMBL; Y08129; - ;
DR   EMBL; Y08130; - ;
DR   EMBL; Y08131; - ;
DR   EMBL; Y08132; - ;
DR   EMBL; Y10196; - ;
DR   UniProtKB/Swiss-Prot; P78562; O00678; Q13646; Q2M325; Q93032; Q99827; -.
DR   EMBL; Y08111; CAA69326.1; -; Genomic_DNA.
DR   EMBL; Y08112; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08113; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08114; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08115; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08116; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08117; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08118; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08119; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08120; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08121; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08122; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08123; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08124; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08125; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08126; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08127; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08128; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08129; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08130; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08131; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; Y08132; CAA69326.1; JOINED; Genomic_DNA.
DR   EMBL; U75645; AAB47749.1; -; mRNA.
DR   EMBL; U87284; AAB47562.1; -; mRNA.
DR   EMBL; AD000712; AAB51604.1; -; mRNA.
DR   EMBL; U81183; AAB42219.1; -; Genomic_DNA.
DR   EMBL; U81167; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81168; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81169; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81171; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81172; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81173; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81174; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81175; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81176; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81177; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81178; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81179; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81180; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U86611; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81181; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U81182; AAB42219.1; JOINED; Genomic_DNA.
DR   EMBL; U82970; AAC24487.1; -; mRNA.
DR   EMBL; U73024; AAD08630.1; -; Genomic_DNA.
DR   EMBL; Y10196; CAA71258.1; -; Genomic_DNA.
DR   EMBL; BC105057; AAI05058.1; -; mRNA.
DR   EMBL; BC105059; AAI05060.1; -; mRNA.
DR   EMBL; U60475; AAC50552.1; -; mRNA.
DR   IPI; IPI00020366; -.
DR   RefSeq; NP_000435.3; NM_000444.4.
DR   UniGene; Hs.495834; -.
DR   ProteinModelPortal; P78562; -.
DR   SMR; P78562; 56-749.
DR   IntAct; P78562; 1.
DR   STRING; P78562; -.
DR   MEROPS; M13.091; -.
DR   PhosphoSite; P78562; -.
DR   PRIDE; P78562; -.
DR   Ensembl; ENST00000379374; ENSP00000368682; ENSG00000102174.
DR   GeneID; 5251; -.
DR   KEGG; hsa:5251; -.
DR   UCSC; uc004dah.1; human.
DR   CTD; 5251; -.
DR   GeneCards; GC0XP019791; -.
DR   H-InvDB; HIX0056113; -.
DR   HGNC; HGNC:8918; PHEX.
DR   HPA; HPA029582; -.
DR   MIM; 300550; gene.
DR   MIM; 307800; phenotype.
DR   neXtProt; NX_P78562; -.
DR   Orphanet; 89936; X-linked hypophosphatemia.
DR   PharmGKB; PA33258; -.
DR   eggNOG; prNOG05377; -.
DR   GeneTree; ENSGT00550000074200; -.
DR   InParanoid; P78562; -.
DR   OMA; AHVRCNS; -.
DR   OrthoDB; EOG4STS43; -.
DR   PhylomeDB; P78562; -.
DR   NextBio; 20286; -.
DR   ArrayExpress; P78562; -.
DR   Bgee; P78562; -.
DR   CleanEx; HS_PHEX; -.
DR   Genevestigator; P78562; -.
DR   GermOnline; ENSG00000102174; Homo sapiens.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0004177; F:aminopeptidase activity; IEA:UniProtKB-KW.
DR   GO; GO:0004222; F:metalloendopeptidase activity; TAS:ProtInc.
DR   GO; GO:0008270; F:zinc ion binding; TAS:ProtInc.
DR   GO; GO:0031214; P:biomineral tissue development; IEA:UniProtKB-KW.
DR   GO; GO:0007267; P:cell-cell signaling; TAS:ProtInc.
DR   GO; GO:0006464; P:protein modification process; TAS:ProtInc.
DR   GO; GO:0006508; P:proteolysis; IDA:UniProtKB.
DR   GO; GO:0001501; P:skeletal system development; TAS:ProtInc.
DR   InterPro; IPR024079; MetalloPept_cat_dom.
DR   InterPro; IPR000718; Peptidase_M13.
DR   InterPro; IPR018497; Peptidase_M13_C.
DR   InterPro; IPR008753; Peptidase_M13_N.
DR   InterPro; IPR015603; PHEX.
DR   Gene3D; G3DSA:3.40.390.10; G3DSA:3.40.390.10; 2.
DR   PANTHER; PTHR11733; Peptidase_M13; 1.
DR   PANTHER; PTHR11733:SF21; PHEX; 1.
DR   Pfam; PF01431; Peptidase_M13; 1.
DR   Pfam; PF05649; Peptidase_M13_N; 1.
DR   PRINTS; PR00786; NEPRILYSIN.
DR   PROSITE; PS00142; ZINC_PROTEASE; 1.
DR   HOGENOMDNA; HSX.PE405; -.
KW   ENSG000001021741755old_1320000031; ENSP000003686827901old_1320000031;
KW   B4DNS0_HUMAN; B4DWG8_HUMAN; B4E334_HUMAN; D1LZJ7_HUMAN; AD000712;
KW   AK301528; AK304551; BC105057; BC105059; GU111712; U60475; U73024; U75645;
KW   U81168; U81169; U81171; U81172; U81173; U81174; U81175; U81176; U81177;
KW   U81179; U81180; U81181; U81182; U81183; U82970; U86611; U87284; Y08111;
KW   Y08113; Y08114; Y08115; Y08116; Y08117; Y08118; Y08119; Y08120; Y08121;
KW   Y08123; Y08124; Y08125; Y08126; Y08127; Y08128; Y08129; Y08130; Y08131;
KW   Y10196;
KW   Aminopeptidase; Biomineralization; Complete proteome;
KW   Disease mutation; Glycoprotein; Hydrolase; Membrane; Metal-binding;
KW   Metalloprotease; Protease; Reference proteome; Signal-anchor;
KW   Transmembrane; Transmembrane helix; Zinc.
SQ   SEQUENCE   749 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MEAETGSSVE TGKKANRGTR IALVVFVGGT LVLGTILFLV SQGLLSLQAK QEYCLKPECI
     EAAAAILSKV NLSVDPCDNF FRFACDGWIS NNPIPEDMPS YGVYPWLRHN VDLKLKELLE
     KSISRRRDTE AIQKAKILYS SCMNEKAIEK ADAKPLLHIL RHSPFRWPVL ESNIGPEGVW
     SERKFSLLQT LATFRGQYSN SVFIRLYVSP DDKASNEHIL KLDQATLSLA VREDYLDNST
     EAKSYRDALY KFMVDTAVLL GANSSRAEHD MKSVLRLEIK IAEIMIPHEN RTSEAMYNKM
     NISELSAMIP QFDWLGYIKK VIDTRLYPHL KDISPSENVV VRVPQYFKDL FRILGSERKK
     TIANYLVWRM VYSRIPNLSR RFQYRWLEFS RVIQGTTTLL PQWDKCVNFI ESALPYVVGK
     MFVDVYFQED KKEMMEELVE GVRWAFIDML EKENEWMDAG TKRKAKEKAR AVLAKVGYPE
     FIMNDTHVNE DLKAIKFSEA DYFGNVLQTR KYLAQSDFFW LRKAVPKTEW FTNPTTVNAF
     YSASTNQIRF PAGELQKPFF WGTEYPRSLS YGAIGVIVGH EFTHGFDNNG RKYDKNGNLD
     PWWSTESEEK FKEKTKCMIN QYSNYYWKKA GLNVKGKRTL GENIADNGGL REAFRAYRKW
     INDRRQGLEE PLLPGITFTN NQLFFLSYAH VRCNSYRPEA AREQVQIGAH SPPQFRVNGA
     ISNFEEFQKA FNCPPNSTMN RGMDSCRLW
//

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