KEGG   Homo sapiens (human): 5251
Entry
5251              CDS       T01001                                 
Symbol
PHEX, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
Name
(RefSeq) phosphate regulating endopeptidase X-linked
  KO
K08636  phosphate-regulating neutral endopeptidase [EC:3.4.24.-]
Organism
hsa  Homo sapiens (human)
Disease
H00214  Hypophosphatemic rickets
H02143  X-linked dominant hypophosphatemic rickets
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09181 Protein families: metabolism
   01002 Peptidases and inhibitors [BR:hsa01002]
    5251 (PHEX)
Peptidases and inhibitors [BR:hsa01002]
 Metallo peptidases
  Family M13: neprilysin family
   5251 (PHEX)
SSDB
Motif
Pfam: Peptidase_M13_N Peptidase_M13 Lambda_Kil
Other DBs
NCBI-GeneID: 5251
NCBI-ProteinID: NP_000435
OMIM: 300550
HGNC: 8918
Ensembl: ENSG00000102174
UniProt: P78562 B4DWG8
Position
X:22032325..22251310
AA seq 749 aa
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI
EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE
KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW
SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK
TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF
YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW
INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
NT seq 2250 nt   +upstreamnt  +downstreamnt
atggaagcagaaacagggagcagcgtggagactggaaagaaggccaacagaggcactcga
attgccctggtcgtgtttgtcggtggcaccctagttctgggcacgatcctctttctagtg
agtcaaggtctcttaagtctccaagctaaacaggagtactgcctgaagccagaatgcatc
gaagcggctgctgccatcttaagtaaagtaaatctgtctgtggatccttgtgataatttc
ttccggttcgcttgtgatggctggataagcaataatccaattcccgaagatatgccaagc
tatggggtttatccttggctgagacataatgttgacctcaagttgaaggaacttttggag
aaatcaatcagtagaaggcgggacaccgaagccatacagaaagccaaaatcctttattca
tcctgcatgaatgagaaagcgattgaaaaagcagatgccaagccactgctacacatccta
cggcattcacctttccgctggcccgtgcttgaatctaatattggccctgaaggggtttgg
tcagagagaaagttcagccttctgcagacacttgcaacgtttcgtggtcaatacagcaat
tctgtgttcatccgtttgtatgtgtcccctgatgacaaagcatccaatgaacatatcttg
aagctggaccaagcaacactctccctggccgtgagggaagactaccttgataacagtaca
gaagccaagtcttatcgggatgccctttacaagttcatggtggatactgccgtgctttta
ggagctaacagttccagagcagagcatgacatgaagtcagtgctcagattggaaattaag
atagctgagataatgattccacatgaaaaccgaaccagcgaggccatgtacaacaaaatg
aacatttctgaactgagtgctatgattccccagttcgactggctgggctacatcaagaag
gtcattgacaccagactctacccccatctgaaagacatcagcccctccgagaatgtggtg
gtccgcgtcccgcagtactttaaagatttgtttaggatattagggtctgagagaaagaag
accattgccaactatttggtgtggagaatggtttattccagaattccaaaccttagcagg
cgctttcagtatagatggctggaattctcaagggtaatccaggggaccacaactttgctg
cctcaatgggacaaatgtgtaaactttattgaaagtgccctcccttatgttgttggaaag
atgtttgtagatgtgtacttccaggaagataagaaggaaatgatggaggaattggttgag
ggcgttcgctgggcctttattgacatgctagagaaagaaaatgagtggatggatgcagga
acgaaaaggaaagccaaagaaaaggcgagagctgttttggcaaaagttggctatccagag
tttataatgaatgatactcatgttaatgaagacctcaaagctatcaagttttcagaagcc
gactactttggcaacgtcctacaaactcgcaagtatttagcacagtctgatttcttctgg
ctaagaaaagccgttccaaaaacagagtggtttacaaatccgacgactgtcaatgccttc
tacagtgcatccaccaaccagatccgatttccagcaggagagctccagaagcctttcttt
tggggaacagaatatcctcgatctctgagttatggtgctataggagtaattgtcggacat
gaatttacacatggatttgataataatggtagaaaatatgataaaaatggaaacctggat
ccttggtggtctactgaatcagaagaaaagtttaaggaaaaaacaaaatgcatgattaac
cagtatagcaactattattggaagaaagctggcttaaatgtcaaggggaagaggaccctg
ggagaaaatattgctgataatggaggcctgcgggaagcttttagggcttacaggaaatgg
ataaatgacagaaggcagggacttgaggagcctcttctaccaggcatcacattcaccaac
aaccagctcttcttcctgagttatgctcatgtgaggtgcaattcctacagaccagaagct
gcccgagaacaagtccaaattggtgctcacagtccccctcagtttagggtcaatggtgca
attagtaactttgaagaattccagaaagcttttaactgtccacccaattccacgatgaac
agaggcatggactcctgccgactctggtag

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (15)   
   KEGG ORTHOLOGY (1)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (34)   
   RefSeq(nuc) (12)   
   GenBank (11)   
   EMBL (11)   
Protein domain (3)   
   Pfam (3)   
All databases (74)   

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