Summary for peptidase M13.091: PHEX peptidase

Summary Gene structure Alignment Tree Sequences Sequence features Distribution Literature Human EST Substrates Inhibitors

 

Names
MEROPS NamePHEX peptidase
Other namesPer g.p. (Mus musculus), PEX [obs.] g.p. (Homo sapiens), PHEX g.p. (Homo sapiens), phosphate-regulating gene with homologies to endopeptidase on the X chromosome
Domain architecture
MEROPS Classification
Classification Clan MA >> Subclan MA(E) >> Family M13 >> Subfamily (none) >> M13.091
HolotypePHEX peptidase (Homo sapiens), Uniprot accession P78562 (peptidase unit: 49-749), MERNUM MER0002062
History Identifier created: MEROPS 3.02 (25 June 1998)
Activity
Catalytic typeMetallo
PeplistIncluded in the Peplist with identifier PL00205
NC-IUBMBNot yet included in IUBMB recommendations.
Proteolytic eventsCutDB database (1 cleavage)
Activity statushuman: active (Boileau, 2004)
mouse: active (Guo et al., 2001)
KnockoutMutations in the gene lead to X-linked hypophosphatemic rickets in humans and other mammals (Sabbagh et al., 2000).
Other databases TREEFAMhttp://www.treefam.org/family/TF315192
Cleavage site specificity Explanations of how to interpret the following cleavage site sequence logo and specificity matrix can be found here.
Cleavage patternSd/hal/-/SdlScissile bondD/seft/ser/q (based on 14 cleavages)
weblogo
Specificity matrix
 
Amino acid P4 P3 P2 P1 P1' P2' P3' P4'
Gly 0 2 0 0 0 0 1 1
Pro 0 0 1 0 0 0 0 0
Ala 0 3 0 0 0 1 1 0
Val 0 0 0 0 0 0 0 1
Leu 0 3 2 3 0 0 0 0
Ile 0 1 0 0 0 0 0 0
Met 0 0 1 1 0 0 0 0
Phe 0 0 1 0 0 2 0 0
Tyr 0 0 0 0 0 1 0 0
Trp 0 0 1 0 0 0 0 0
Ser 6 0 1 7 0 6 5 0
Thr 0 0 0 0 0 2 0 2
Cys 0 0 0 0 0 0 0 0
Asn 0 0 0 0 0 0 0 0
Gln 0 0 1 0 0 0 0 4
Asp 2 0 0 3 14 0 0 1
Glu 0 0 4 0 0 2 3 2
Lys 0 0 0 0 0 0 0 0
Arg 0 1 1 0 0 0 3 0
His 0 4 1 0 0 0 0 1
Human genetics
Gene symbol Locus Megabases Ensembl Entrez gene Gene Cards OMIM
PHEX Xp22.2-p22.1 ENSG00000102174 5251 PHEX 307800
Mouse genetics
Gene symbol Position Megabases Ensembl Entrez gene MGI
Phex X:65.4 ENSMUSG00000025663 18675 MGI:107489