Homo sapiens (human): 5251
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Peptidase_M13_N
Peptidase_M13
Lambda_Kil
Motif
Other DBs
NCBI-GeneID:
5251
NCBI-ProteinID:
NP_000435
OMIM:
300550
HGNC:
8918
Ensembl:
ENSG00000102174
UniProt:
P78562
B4DWG8
LinkDB
All DBs
Position
X:22032325..22251310
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AA seq
749 aa
AA seq
DB search
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECI
EAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLE
KSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVW
SERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNST
EAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKM
NISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKK
TIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGK
MFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPE
FIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAF
YSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLD
PWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKW
INDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGA
ISNFEEFQKAFNCPPNSTMNRGMDSCRLW
NT seq
2250 nt
NT seq
+upstream
nt +downstream
nt
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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