PHEX
entrez
5251
canonical
uniprot
P78562
canonical
ensembl
ENSG00000102174
resolver
ensp
ENSP00000368682
resolver
ensp
ENSP00000508264
resolver
enst
ENST00000379374
resolver
genesymbol
PHEX
resolver
genesymbol_syn
PEX
resolver
hgnc
HGNC:8918
resolver
uniprot
B4DNS0
resolver
uniprot
B4DWG8
resolver
uniprot
O00678
resolver
uniprot
Q13646
resolver
uniprot
Q2M325
resolver
uniprot
Q93032
resolver
uniprot
Q99827
resolver
uniprot_entry
B4DNS0_HUMAN
resolver
uniprot_entry
B4DWG8_HUMAN
resolver
uniprot_entry
PHEX_HUMAN
resolver
uniprot_sec
O00678
resolver
uniprot_sec
Q13646
resolver
uniprot_sec
Q2M325
resolver
uniprot_sec
Q93032
resolver
uniprot_sec
Q99827
resolver
amino_acid_sequence
MEAETGSSVETGKKANRGTRIALVVFVGGTLVLGTILFLVSQGLLSLQAKQEYCLKPECIEAAAAILSKVNLSVDPCDNFFRFACDGWISNNPIPEDMPSYGVYPWLRHNVDLKLKELLEKSISRRRDTEAIQKAKILYSSCMNEKAIEKADAKPLLHILRHSPFRWPVLESNIGPEGVWSERKFSLLQTLATFRGQYSNSVFIRLYVSPDDKASNEHILKLDQATLSLAVREDYLDNSTEAKSYRDALYKFMVDTAVLLGANSSRAEHDMKSVLRLEIKIAEIMIPHENRTSEAMYNKMNISELSAMIPQFDWLGYIKKVIDTRLYPHLKDISPSENVVVRVPQYFKDLFRILGSERKKTIANYLVWRMVYSRIPNLSRRFQYRWLEFSRVIQGTTTLLPQWDKCVNFIESALPYVVGKMFVDVYFQEDKKEMMEELVEGVRWAFIDMLEKENEWMDAGTKRKAKEKARAVLAKVGYPEFIMNDTHVNEDLKAIKFSEADYFGNVLQTRKYLAQSDFFWLRKAVPKTEWFTNPTTVNAFYSASTNQIRFPAGELQKPFFWGTEYPRSLSYGAIGVIVGHEFTHGFDNNGRKYDKNGNLDPWWSTESEEKFKEKTKCMINQYSNYYWKKAGLNVKGKRTLGENIADNGGLREAFRAYRKWINDRRQGLEEPLLPGITFTNNQLFFLSYAHVRCNSYRPEAAREQVQIGAHSPPQFRVNGAISNFEEFQKAFNCPPNSTMNRGMDSCRLW
uniprot
proteins
disease_involvement
DISEASE: Hypophosphatemic rickets, X-linked dominant (XLHRD) [MIM:307800]: A disorder characterized by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in the proximal tubules. Clinical manifestations include skeletal deformities, growth failure, craniosynostosis, paravertebral calcifications, pseudofractures in lower extremities, and muscular hypotonia with onset in early childhood. X-linked hypophosphatemic rickets is the most common form of hypophosphatemia with an incidence of 1 in 20000. {ECO:0000269|PubMed:10439971, ECO:0000269|PubMed:10737991, ECO:0000269|PubMed:11004247, ECO:0000269|PubMed:9097956, ECO:0000269|PubMed:9106524, ECO:0000269|PubMed:9199930, ECO:0000269|PubMed:9768646, ECO:0000269|PubMed:9768674}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.24.-
uniprot
proteins
function
FUNCTION: Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:15664000, PubMed:18162525, PubMed:18597632, PubMed:9593714). Cleaves ASARM peptides between Ser and Glu or Asp residues (PubMed:18597632). Regulates osteogenic cell differentiation and bone mineralization through the cleavage of the MEPE-derived ASARM peptide (PubMed:18597632). Promotes dentin mineralization and renal phosphate reabsorption by cleaving DMP1- and MEPE-derived ASARM peptides (PubMed:18162525, PubMed:18597632). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505). {ECO:0000250|UniProtKB:P70669, ECO:0000269|PubMed:12220505, ECO:0000269|PubMed:18162525, ECO:0000269|PubMed:18597632}.
uniprot
proteins
mass_dalton
86474
uniprot
proteins
protein_family
Peptidase M13 family
uniprot
proteins
pubmed
10439971
uniprot
proteins
pubmed
10737991
uniprot
proteins
pubmed
11004247
uniprot
proteins
pubmed
12220505
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15664000
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
18162525
uniprot
proteins
pubmed
18597632
uniprot
proteins
pubmed
7550339
uniprot
proteins
pubmed
9070861
uniprot
proteins
pubmed
9077527
uniprot
proteins
pubmed
9097956
uniprot
proteins
pubmed
9106524
uniprot
proteins
pubmed
9199930
uniprot
proteins
pubmed
9199999
uniprot
proteins
pubmed
9593714
uniprot
proteins
pubmed
9768646
uniprot
proteins
pubmed
9768674
uniprot
proteins
sequence_length
749
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9593714}; Single-pass type II membrane protein {ECO:0000269|PubMed:9593714}.
uniprot
proteins
transmembrane_region
TRANSMEM 21..41; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000269|PubMed:9593714
uniprot
proteins