Reviewed, UniProtKB/Swiss-Prot P70669 (PHEX_MOUSE)

Names and origin

Protein names

Recommended name:
    Metalloendopeptidase homolog PEX
    EC=3.4.24.-
Alternative name(s):
    Phosphate regulating neutral endopeptidase
    X-linked hypophosphatemia protein
      Short name=HYP
    Vitamin D-resistant hypophosphatemic rickets protein

Gene names

Name:	Phex
Synonyms:	Hyp, Pex

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus

Protein attributes

Sequence length	749 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Probably involved in bone and dentin mineralization and renal phosphate reabsorption.
Cofactor	Binds 1 zinc ion per subunit By similarity.
Subcellular location	Membrane; Single-pass type II membrane protein Potential.
Tissue specificity	Bone.
Sequence similarities	Belongs to the peptidase M13 family.

Ontologies

Keywords
Biological process	Biomineralization
Cellular component	Membrane
Domain	Signal-anchor Transmembrane
Ligand	Metal-binding Zinc
Molecular function	Hydrolase Metalloprotease Protease
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	ossification Inferred from electronic annotation. Source: UniProtKB-KW proteolysis Inferred from electronic annotation. Source: InterPro
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular function	metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 749	749	Metalloendopeptidase homolog PEX		PRO_0000078229
Regions
	Topological domain	1 – 20	20	Cytoplasmic Potential
	Transmembrane	21 – 37	17	Signal-anchor for type II membrane protein Potential
	Topological domain	38 – 749	712	Extracellular Potential
Sites
	Active site	581	1	By similarity
	Active site	646	1	Proton donor Potential
	Metal binding	580	1	Zinc; catalytic By similarity
	Metal binding	584	1	Zinc; catalytic By similarity
	Metal binding	642	1	Zinc; catalytic By similarity
Amino acid modifications
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	238	1	N-linked (GlcNAc...) Potential
	Glycosylation	263	1	N-linked (GlcNAc...) Potential
	Glycosylation	290	1	N-linked (GlcNAc...) Potential
	Glycosylation	301	1	N-linked (GlcNAc...) Potential
	Glycosylation	377	1	N-linked (GlcNAc...) Potential
	Glycosylation	484	1	N-linked (GlcNAc...) Potential
	Glycosylation	736	1	N-linked (GlcNAc...) Potential
Experimental info
	Sequence conflict	430	1	D → V in AAB47750. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	P70669-1 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: A88FA481C376C18A	FASTA	749	86,419
	10 20 30 40 50 60 MEAETGSTME TGKGTNRGIR IALALFIGGT LVLGTLLFLV SQGLLSFQAK QEYCLKPECI 70 80 90 100 110 120 EAAAAIMSKV NLSVDPCENF FRFACDGWIS NNPIPEDMPS YGVYPWLRHN VDLKLKALLE 130 140 150 160 170 180 KSVSRRRDTE AVQKAKILYS SCMNEKAIEK ADAKPLLHIL RHSPFRWPVL EANIGPEGVW 190 200 210 220 230 240 SERKFSLLQT LATFRGQYSN SVFIRLYVSP DDKASNEHIL KLDQATLSLA VREDFLDNTT 250 260 270 280 290 300 EAKSYRDALY KFMVDTAVLL GANSSRAEHD MKSVLRLEIK IAEIMIPHEN RTSEAMYNKM 310 320 330 340 350 360 NISELSAMIP QFDWLGYIKK VIDTRLYPHL KDIGPSENVV VRVPQYFKDL FRILGAERKK 370 380 390 400 410 420 TIANYLVWRM VYSRIPNLSR RFQYRWLEFS RVIQGTTTLL PQWDKCVNFI ESALPYVVGK 430 440 450 460 470 480 MFVNVHFQED KKEMMEELIE GVRWAFIDML EKENEWMDAG TKRKAQEKAR AVLAKVGYPE 490 500 510 520 530 540 FIMNDTYVNE DLKAIKFSES DYFGNVLQTR KYLAQSDFFW LRKAVPKTEW FTNPTTVNAF 550 560 570 580 590 600 YSASTNQIRF PAGELQKPFF WGTEYPRSLS YGAIGVIVGH EFTHGFDNNG RKYDKNGNLD 610 620 630 640 650 660 PWWSVESEEK FKEKTKCMIN QYSNYYWKKA GLNVKGKRTL GENIADNGGL REAFRAYRKW 670 680 690 700 710 720 INDRRQGVEE PLLPGITFTN NQLFFLSYAH VRCNSYRPEA AREQVQIGAH SPPQFRVNGA 730 740 ISNFEEFQKA FNCPRNSTMN RGADSCRLW

References

[1]	"cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone." Du L., Desbarats M., Viel J., Glorieux F.H., Cawthorn C., Ecarot B. Genomics 36:22-28(1996) [PubMed: 8812412] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia." Strom T.M., Francis F., Lorenz B., Boeddrich A., Econs M.J., Lehrach H., Meitinger T. Hum. Mol. Genet. 6:165-171(1997) [PubMed: 9063736] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]	"Pex/PEX tissue distribution and evidence for a deletion in the 3' region of the Pex gene in X-linked hypophosphatemic mice." Beck L., Soumounou Y., Martel J., Krishnamurthy G., Gauthier C., Goodyer C.G., Tenenhouse H.S. J. Clin. Invest. 99:1200-1209(1997) [PubMed: 9077527] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Strain: C57BL/6J.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	U49908 mRNA. Translation: AAC36502.1. U73910 mRNA. Translation: AAC25962.1. U73912 Genomic DNA. Translation: AAC25964.1. U73913 Genomic DNA. Translation: AAC25965.1. U73914 Genomic DNA. Translation: AAC25966.1. U73911 Genomic DNA. Translation: AAC25963.1. U73915 Genomic DNA. Translation: AAC25967.1. U75646 mRNA. Translation: AAB47750.1.
IPI	IPI00111796.
RefSeq	NP_035207.1.
UniGene	Mm.2529
3D structure databases
HSSP	HSSP built from PDB template 1DMT based on UniProtKB P08473.
ModBase	Search...
Protein family/group databases
MEROPS	M13.091.
PTM databases
PhosphoSite	P70669.
Proteomic databases
PRIDE	P70669.
Genome annotation databases
Ensembl	ENSMUSG00000057457. Mus musculus. [Contig view]
GeneID	18675.
KEGG	mmu:18675.
Organism-specific databases
MGI	MGI:107489. Phex.
Phylogenomic databases
HOGENOM	P70669.
HOVERGEN	P70669.
OMA	P70669. SYAHVRC.
Gene expression databases
ArrayExpress	P70669.
Bgee	P70669.
GermOnline	ENSMUSG00000057457. Mus musculus.
Family and domain databases
InterPro	IPR006025. Pept_M_Zn_BS. IPR000718. Peptidase_M13. IPR018497. Peptidase_M13_C. IPR008753. Peptidase_M13_N. IPR015603. PHEX. [Graphical view]
PANTHER	PTHR11733. Peptidase_M13. 1 hit. PTHR11733:SF21. PHEX. 1 hit.
Pfam	PF01431. Peptidase_M13. 1 hit. PF05649. Peptidase_M13_N. 1 hit. [Graphical view]
PRINTS	PR00786. NEPRILYSIN.
PROSITE	PS00142. ZINC_PROTEASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	294698.
SOURCE	Search...

Entry information

Entry name

PHEX_MOUSE

Accession

Primary (citable) accession number: P70669
Secondary accession number(s): P97439

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	February 1, 1997
Last modified:	June 16, 2009
This is version 76 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)