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Entry version 183 (16 Oct 2019)
Sequence version 1 (01 May 1997)
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Protein

Phosphate-regulating neutral endopeptidase PHEX

Gene

PHEX

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Peptidase that cleaves SIBLING (small integrin-binding ligand, N-linked glycoprotein)-derived ASARM peptides, thus regulating their biological activity (PubMed:9593714, PubMed:15664000, PubMed:18162525, PubMed:18597632). 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:18597632, PubMed:18162525). Inhibits the cleavage of MEPE by CTSB/cathepsin B thus preventing MEPE degradation (PubMed:12220505).By similarity3 Publications

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Zn2+1 PublicationNote: Binds 1 zinc ion per subunit.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi580Zinc; catalyticPROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei581PROSITE-ProRule annotation1
Metal bindingi584Zinc; catalyticPROSITE-ProRule annotation1
Metal bindingi642Zinc; catalyticPROSITE-ProRule annotation1
Active sitei646Proton donorPROSITE-ProRule annotation1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
Biological processBiomineralization
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
3.4.24.B15 2681

Protein family/group databases

MEROPS protease database

More...
MEROPSi
M13.091

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Phosphate-regulating neutral endopeptidase PHEX (EC:3.4.24.-2 Publications)
Alternative name(s):
Metalloendopeptidase homolog PEX
Vitamin D-resistant hypophosphatemic rickets protein
X-linked hypophosphatemia protein
Short name:
HYP
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PHEX
Synonyms:PEX
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8918 PHEX

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300550 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P78562

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 20Cytoplasmic1 PublicationAdd BLAST20
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei21 – 41Helical; Signal-anchor for type II membrane protein1 PublicationAdd BLAST21
Topological domaini42 – 641Extracellular1 PublicationAdd BLAST600

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hypophosphatemic rickets, X-linked dominant (XLHR)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00673877C → S in XLHR. 1 Publication1
Natural variantiVAR_01061680F → S in XLHR; sporadic. 1 Publication1
Natural variantiVAR_01061785C → F in XLHR; sporadic. 1 Publication1
Natural variantiVAR_01061885C → R in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556014287EnsemblClinVar.1
Natural variantiVAR_00673985C → Y in XLHR. 1 PublicationCorresponds to variant dbSNP:rs137853269EnsemblClinVar.1
Natural variantiVAR_006740138L → P in XLHR. 1 Publication1
Natural variantiVAR_010619141S → P in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010620142C → F in XLHR. 1 Publication1
Natural variantiVAR_010621160L → R in XLHR. 1 Publication1
Natural variantiVAR_006741166R → C in XLHR. 1 PublicationCorresponds to variant dbSNP:rs751230094Ensembl.1
Natural variantiVAR_010622237D → G in XLHR; sporadic. 1 Publication1
Natural variantiVAR_006742252F → S in XLHR. 1 PublicationCorresponds to variant dbSNP:rs267606945EnsemblClinVar.1
Natural variantiVAR_006743253M → I in XLHR. 1 PublicationCorresponds to variant dbSNP:rs267606946EnsemblClinVar.1
Natural variantiVAR_010623317Y → F in XLHR. 1 Publication1
Natural variantiVAR_010624341Missing in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010625444W → WN in XLHR. 1 Publication1
Natural variantiVAR_010626530W → C in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556091855EnsemblClinVar.1
Natural variantiVAR_006744534P → L in XLHR. 3 PublicationsCorresponds to variant dbSNP:rs886041363EnsemblClinVar.1
Natural variantiVAR_010627555L → P in XLHR. 1 PublicationCorresponds to variant dbSNP:rs137853270EnsemblClinVar.1
Natural variantiVAR_010628567R → P in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs760870713EnsemblClinVar.1
Natural variantiVAR_010629573A → D in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556135308EnsemblClinVar.1
Natural variantiVAR_006745579G → R in XLHR. 3 PublicationsCorresponds to variant dbSNP:rs875989883EnsemblClinVar.1
Natural variantiVAR_006746579G → V in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1057517980EnsemblClinVar.1
Natural variantiVAR_010630621Q → R in XLHR. 1 Publication1
Natural variantiVAR_010631651R → P in XLHR. 1 Publication1
Natural variantiVAR_010633680N → K in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556151526EnsemblClinVar.1
Natural variantiVAR_010632680Missing in XLHR. 1 Publication1
Natural variantiVAR_010634693C → Y in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556200989EnsemblClinVar.1
Natural variantiVAR_010635720A → T in XLHR. 1 Publication1
Natural variantiVAR_010636731F → Y in XLHR. 1 Publication1
Natural variantiVAR_010637733C → S in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010638746C → W in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010639749W → R in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556206403EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
5251

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PHEX

MalaCards human disease database

More...
MalaCardsi
PHEX
MIMi307800 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000102174

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
89936 X-linked hypophosphatemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33258

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P78562

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PHEX

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2499917

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000782281 – 749Phosphate-regulating neutral endopeptidase PHEXAdd BLAST749

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi54 ↔ 59PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi71N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi77 ↔ 733PROSITE-ProRule annotation
Disulfide bondi85 ↔ 693PROSITE-ProRule annotation
Disulfide bondi142 ↔ 406PROSITE-ProRule annotation
Glycosylationi238N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi263N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi290N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi301N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi377N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi484N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi617 ↔ 746PROSITE-ProRule annotation
Glycosylationi736N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P78562

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P78562

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P78562

PeptideAtlas

More...
PeptideAtlasi
P78562

PRoteomics IDEntifications database

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PRIDEi
P78562

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
57655

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P78562

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
P78562

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Specifically expressed in ovary (PubMed:9070861). Expressed at low levels in kidney (PubMed:9070861).1 Publication

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in fetal lung (PubMed:9070861, PubMed:9077527). Expressed in fetal calvaria and to a lesser extent in fetal kidney and skeletal muscles (PubMed:9593714, PubMed:9077527).3 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000102174 Expressed in 84 organ(s), highest expression level in tibia

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P78562 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with MEPE; the interaction is zinc-dependent (via ASARM motif).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111270, 2 interactors

Protein interaction database and analysis system

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IntActi
P78562, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368682

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P78562

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini53 – 749Peptidase M13PROSITE-ProRule annotationAdd BLAST697

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the peptidase M13 family.PROSITE-ProRule annotationCurated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3624 Eukaryota
COG3590 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157313

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000245574

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P78562

KEGG Orthology (KO)

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KOi
K08636

Identification of Orthologs from Complete Genome Data

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OMAi
IYPWLRR

Database of Orthologous Groups

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OrthoDBi
282463at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P78562

TreeFam database of animal gene trees

More...
TreeFami
TF315192

Family and domain databases

Conserved Domains Database

More...
CDDi
cd08662 M13, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1380.10, 1 hit
3.40.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR042089 Peptidase_M13_dom_2
IPR008753 Peptidase_M13_N

The PANTHER Classification System

More...
PANTHERi
PTHR11733 PTHR11733, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00786 NEPRILYSIN

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51885 NEPRILYSIN, 1 hit
PS00142 ZINC_PROTEASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

P78562-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEAETGSSVE TGKKANRGTR IALVVFVGGT LVLGTILFLV SQGLLSLQAK
60 70 80 90 100
QEYCLKPECI EAAAAILSKV NLSVDPCDNF FRFACDGWIS NNPIPEDMPS
110 120 130 140 150
YGVYPWLRHN VDLKLKELLE KSISRRRDTE AIQKAKILYS SCMNEKAIEK
160 170 180 190 200
ADAKPLLHIL RHSPFRWPVL ESNIGPEGVW SERKFSLLQT LATFRGQYSN
210 220 230 240 250
SVFIRLYVSP DDKASNEHIL KLDQATLSLA VREDYLDNST EAKSYRDALY
260 270 280 290 300
KFMVDTAVLL GANSSRAEHD MKSVLRLEIK IAEIMIPHEN RTSEAMYNKM
310 320 330 340 350
NISELSAMIP QFDWLGYIKK VIDTRLYPHL KDISPSENVV VRVPQYFKDL
360 370 380 390 400
FRILGSERKK TIANYLVWRM VYSRIPNLSR RFQYRWLEFS RVIQGTTTLL
410 420 430 440 450
PQWDKCVNFI ESALPYVVGK MFVDVYFQED KKEMMEELVE GVRWAFIDML
460 470 480 490 500
EKENEWMDAG TKRKAKEKAR AVLAKVGYPE FIMNDTHVNE DLKAIKFSEA
510 520 530 540 550
DYFGNVLQTR KYLAQSDFFW LRKAVPKTEW FTNPTTVNAF YSASTNQIRF
560 570 580 590 600
PAGELQKPFF WGTEYPRSLS YGAIGVIVGH EFTHGFDNNG RKYDKNGNLD
610 620 630 640 650
PWWSTESEEK FKEKTKCMIN QYSNYYWKKA GLNVKGKRTL GENIADNGGL
660 670 680 690 700
REAFRAYRKW INDRRQGLEE PLLPGITFTN NQLFFLSYAH VRCNSYRPEA
710 720 730 740
AREQVQIGAH SPPQFRVNGA ISNFEEFQKA FNCPPNSTMN RGMDSCRLW
Length:749
Mass (Da):86,474
Last modified:May 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7C4F9F3E2471C6A8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti363A → D in AAC50552 (PubMed:7550339).Curated1
Sequence conflicti403W → R in AAC50552 (PubMed:7550339).Curated1
Sequence conflicti641G → A in AAC50552 (PubMed:7550339).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00673877C → S in XLHR. 1 Publication1
Natural variantiVAR_01061680F → S in XLHR; sporadic. 1 Publication1
Natural variantiVAR_01061785C → F in XLHR; sporadic. 1 Publication1
Natural variantiVAR_01061885C → R in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556014287EnsemblClinVar.1
Natural variantiVAR_00673985C → Y in XLHR. 1 PublicationCorresponds to variant dbSNP:rs137853269EnsemblClinVar.1
Natural variantiVAR_006740138L → P in XLHR. 1 Publication1
Natural variantiVAR_010619141S → P in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010620142C → F in XLHR. 1 Publication1
Natural variantiVAR_010621160L → R in XLHR. 1 Publication1
Natural variantiVAR_006741166R → C in XLHR. 1 PublicationCorresponds to variant dbSNP:rs751230094Ensembl.1
Natural variantiVAR_010622237D → G in XLHR; sporadic. 1 Publication1
Natural variantiVAR_006742252F → S in XLHR. 1 PublicationCorresponds to variant dbSNP:rs267606945EnsemblClinVar.1
Natural variantiVAR_006743253M → I in XLHR. 1 PublicationCorresponds to variant dbSNP:rs267606946EnsemblClinVar.1
Natural variantiVAR_010623317Y → F in XLHR. 1 Publication1
Natural variantiVAR_010624341Missing in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010625444W → WN in XLHR. 1 Publication1
Natural variantiVAR_010626530W → C in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556091855EnsemblClinVar.1
Natural variantiVAR_006744534P → L in XLHR. 3 PublicationsCorresponds to variant dbSNP:rs886041363EnsemblClinVar.1
Natural variantiVAR_010627555L → P in XLHR. 1 PublicationCorresponds to variant dbSNP:rs137853270EnsemblClinVar.1
Natural variantiVAR_010628567R → P in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs760870713EnsemblClinVar.1
Natural variantiVAR_010629573A → D in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556135308EnsemblClinVar.1
Natural variantiVAR_006745579G → R in XLHR. 3 PublicationsCorresponds to variant dbSNP:rs875989883EnsemblClinVar.1
Natural variantiVAR_006746579G → V in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1057517980EnsemblClinVar.1
Natural variantiVAR_010630621Q → R in XLHR. 1 Publication1
Natural variantiVAR_010631651R → P in XLHR. 1 Publication1
Natural variantiVAR_010633680N → K in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556151526EnsemblClinVar.1
Natural variantiVAR_010632680Missing in XLHR. 1 Publication1
Natural variantiVAR_010634693C → Y in XLHR; sporadic. 1 PublicationCorresponds to variant dbSNP:rs1556200989EnsemblClinVar.1
Natural variantiVAR_010635720A → T in XLHR. 1 Publication1
Natural variantiVAR_010636731F → Y in XLHR. 1 Publication1
Natural variantiVAR_010637733C → S in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010638746C → W in XLHR; sporadic. 1 Publication1
Natural variantiVAR_010639749W → R in XLHR. 1 PublicationCorresponds to variant dbSNP:rs1556206403EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
Y08111
, Y08112, Y08113, Y08114, Y08115, Y08116, Y08117, Y08118, Y08119, Y08120, Y08121, Y08122, Y08123, Y08124, Y08125, Y08126, Y08127, Y08128, Y08129, Y08130, Y08131, Y08132 Genomic DNA Translation: CAA69326.1
U75645 mRNA Translation: AAB47749.1
U87284 mRNA Translation: AAB47562.1
AD000712 mRNA Translation: AAB51604.1
AH004966 Genomic DNA Translation: AAB42219.1
U82970 mRNA Translation: AAC24487.1
U73024 Genomic DNA Translation: AAD08630.1
Y10196 Genomic DNA Translation: CAA71258.1
BC105057 mRNA Translation: AAI05058.1
BC105059 mRNA Translation: AAI05060.1
U60475 mRNA Translation: AAC50552.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14204.1

NCBI Reference Sequences

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RefSeqi
NP_000435.3, NM_000444.5
NP_001269683.1, NM_001282754.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000379374; ENSP00000368682; ENSG00000102174

Database of genes from NCBI RefSeq genomes

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GeneIDi
5251

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5251

UCSC genome browser

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UCSCi
uc004dah.5 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y08111
, Y08112, Y08113, Y08114, Y08115, Y08116, Y08117, Y08118, Y08119, Y08120, Y08121, Y08122, Y08123, Y08124, Y08125, Y08126, Y08127, Y08128, Y08129, Y08130, Y08131, Y08132 Genomic DNA Translation: CAA69326.1
U75645 mRNA Translation: AAB47749.1
U87284 mRNA Translation: AAB47562.1
AD000712 mRNA Translation: AAB51604.1
AH004966 Genomic DNA Translation: AAB42219.1
U82970 mRNA Translation: AAC24487.1
U73024 Genomic DNA Translation: AAD08630.1
Y10196 Genomic DNA Translation: CAA71258.1
BC105057 mRNA Translation: AAI05058.1
BC105059 mRNA Translation: AAI05060.1
U60475 mRNA Translation: AAC50552.1
CCDSiCCDS14204.1
RefSeqiNP_000435.3, NM_000444.5
NP_001269683.1, NM_001282754.1

3D structure databases

SMRiP78562
ModBaseiSearch...

Protein-protein interaction databases

BioGridi111270, 2 interactors
IntActiP78562, 2 interactors
STRINGi9606.ENSP00000368682

Protein family/group databases

MEROPSiM13.091

PTM databases

iPTMnetiP78562
PhosphoSitePlusiP78562

Polymorphism and mutation databases

BioMutaiPHEX
DMDMi2499917

Proteomic databases

EPDiP78562
MassIVEiP78562
PaxDbiP78562
PeptideAtlasiP78562
PRIDEiP78562
ProteomicsDBi57655

Genome annotation databases

EnsembliENST00000379374; ENSP00000368682; ENSG00000102174
GeneIDi5251
KEGGihsa:5251
UCSCiuc004dah.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5251
DisGeNETi5251

GeneCards: human genes, protein and diseases

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GeneCardsi
PHEX
GeneReviewsiPHEX
HGNCiHGNC:8918 PHEX
MalaCardsiPHEX
MIMi300550 gene
307800 phenotype
neXtProtiNX_P78562
OpenTargetsiENSG00000102174
Orphaneti89936 X-linked hypophosphatemia
PharmGKBiPA33258

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3624 Eukaryota
COG3590 LUCA
GeneTreeiENSGT00940000157313
HOGENOMiHOG000245574
InParanoidiP78562
KOiK08636
OMAiIYPWLRR
OrthoDBi282463at2759
PhylomeDBiP78562
TreeFamiTF315192

Enzyme and pathway databases

BRENDAi3.4.24.B15 2681

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PHEX human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PHEX

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5251
PharosiP78562

Protein Ontology

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PROi
PR:P78562

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000102174 Expressed in 84 organ(s), highest expression level in tibia
GenevisibleiP78562 HS

Family and domain databases

CDDicd08662 M13, 1 hit
Gene3Di1.10.1380.10, 1 hit
3.40.390.10, 1 hit
InterProiView protein in InterPro
IPR024079 MetalloPept_cat_dom_sf
IPR000718 Peptidase_M13
IPR018497 Peptidase_M13_C
IPR042089 Peptidase_M13_dom_2
IPR008753 Peptidase_M13_N
PANTHERiPTHR11733 PTHR11733, 1 hit
PfamiView protein in Pfam
PF01431 Peptidase_M13, 1 hit
PF05649 Peptidase_M13_N, 1 hit
PRINTSiPR00786 NEPRILYSIN
PROSITEiView protein in PROSITE
PS51885 NEPRILYSIN, 1 hit
PS00142 ZINC_PROTEASE, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPHEX_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P78562
Secondary accession number(s): O00678
, Q13646, Q2M325, Q93032, Q99827
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 1, 1997
Last modified: October 16, 2019
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Peptidase families
    Classification of peptidase families and list of entries
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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