KEGG   Homo sapiens (human): 5251Help
Entry
5251              CDS       T01001                                 

Gene name
PHEX, HPDR, HPDR1, HYP, HYP1, LXHR, PEX, XLH
Definition
phosphate regulating endopeptidase homolog, X-linked
Orthology
K08636  
phosphate-regulating neutral endopeptidase [EC:3.4.24.-]
Organism
hsa  Homo sapiens (human)
Disease
H00214  
Hypophosphatemic rickets
Class
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
UniProt: 
Position
Xp22.2-p22.1
AA seq 749 aa AA seqDB search
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI
EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE
KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW
SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK
TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF
YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW
INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
NT seq 2250 nt NT seq  +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

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