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Search results 401 to 494 out of 494 for Phex

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Hits by Pathway

Hits by Strain

Hits by Category

Type Details Score
Genotype
Genotype
Symbol: Phex/?
Background: B6.Cg-Phex/J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/?
Background: involves: C57BL/6J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/Phex<+>
Background: B6.Cg-Phex/J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/Phex<+>
Background: C57BL/6-Phex
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/?
Background: C57BL/6-Phex
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/Phex
Background: C3HeB/FeJ-Phex
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/Phex
Background: C3HeB/FeJ-Phex
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:0050445 | X-linked dominant hypophosphatemic rickets
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Genotype
Genotype
Symbol: Phex/Phex<+>
Background: C3HeB/FeJ-Phex
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/?
Background: C3HeB/FeJ-Phex
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Tg(Col1a1-FGF2*,-Sapphire)203Mmh/Tg(Col1a1-FGF2*,-Sapphire)203Mmh
Background: involves: FVB/N
Zygosity: hm
Has Mutant Allele: true
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Strain
MGI:5009134 | B6.Cg-Gy
Attribute String: congenic, mutant strain, radiation induced mutation
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Strain
MGI:5650642 | (B6C3Sn-Gy x BALB/cJ)F1-Gy
Attribute String: mutant stock, Mixed cross
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Genotype
Genotype
Symbol: Gy/Gy<+>
Background: involves: C3H/Sn * C57BL/6Ei
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Phex/Phex<+> Tg(Bglap2-Phex)1Ldq/?
Background: involves: C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/?
Background: involves: 101/H * C3H/HeH
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/Gy<+>
Background: involves: 101/H * C3H/HeH
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/?
Background: involves: 101/H * C3H/HeH * C57BL/6J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/?
Background: B6.Cg-Gy
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/Gy
Background: B6.Cg-Gy
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/?
Background: involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/Gy
Background: involves: 101/H * C3H/HeH * C3H/HeSnJ * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gy/?
Background: Not Specified
Zygosity: ot
Has Mutant Allele: true
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Publication
- | J:13792
 
First Author: Beechey CV
Year: 1979
Journal: Mouse News Lett
Title: Crm at distal end of X.
Volume: 60
Pages: 47
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Allele
Tg(APOE-FGF23*R176Q)#Ack | MGI:5465569
Name: transgene insertion, Andrew C Karaplis
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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HT Experiment
E-GEOD-5243 | Transcription profiling of mouse kidney - effect of Hyp, low phosphate diet and sex
Series Id: GSE5243
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Strain
MGI:5493298 | B6.129S1-Phex<M1Jrt>
Attribute String: chemically induced mutation, congenic, mutant strain
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Transgene
MGI:5465568 | Tg(APOE-FGF23*R176Q)#Ack
Type: transgene
Organism: mouse, laboratory
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Genotype
Genotype
Symbol: Tg(APOE-FGF23*R176Q)#Ack/?
Background: involves: C57BL/6J * CBA
Zygosity: ot
Has Mutant Allele: true
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HT Experiment
E-GEOD-5657 | Transcription profiling of mouse femur in X-linked hypophosphatemia Hyp mutated animals
Series Id: GSE5657
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Strain
MGI:3577716 | STOCK Gy/H
Attribute String: mutant stock, radiation induced mutation
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Strain
MGI:2162343 | B6EiC3Sn a/A-Gy/J
Attribute String: mutant stock, radiation induced mutation
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HT Experiment
E-GEOD-14242 | Novel Regulators of Fgf23 Expression and Mineralization in Hyp Bone
Series Id: GSE14242
Experiment Type: transcription profiling by array
Study Type: WT vs. Mutant
Source: ArrayExpress
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Publication
10749671 | J:61898
First Author: Ghaddar G
Year: 2000
Journal: Biochem J
Title: Molecular cloning and biochemical characterization of a new mouse testis soluble-zinc-metallopeptidase of the neprilysin family.
Volume: 347
Issue: Pt 2
Pages: 419-29
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Publication
28005411 | J:245199
First Author: Ichikawa S
Year: 2017
Journal: Endocrinology
Title: A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice.
Volume: 158
Issue: 3
Pages: 470-476
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Publication
18559986 | J:140067
First Author: Liu S
Year: 2008
Journal: Am J Physiol Endocrinol Metab
Title: Pathogenic role of Fgf23 in Dmp1-null mice.
Volume: 295
Issue: 2
Pages: E254-61
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Publication
21149338 | J:169038
First Author: Chen IP
Year: 2011
Journal: Hum Mol Genet
Title: A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).
Volume: 20
Issue: 5
Pages: 948-61
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Publication
19213727 | J:150546
First Author: Friedman MS
Year: 2009
Journal: J Biol Chem
Title: Wnt11 promotes osteoblast maturation and mineralization through R-spondin 2.
Volume: 284
Issue: 21
Pages: 14117-25
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Publication
19168167 | J:148213
First Author: Brounais B
Year: 2009
Journal: Bone
Title: Long term oncostatin M treatment induces an osteocyte-like differentiation on osteosarcoma and calvaria cells.
Volume: 44
Issue: 5
Pages: 830-9
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Publication
18728349 | J:151283
First Author: Lu Y
Year: 2009
Journal: Cells Tissues Organs
Title: Studies of the DMP1 57-kDa functional domain both in vivo and in vitro.
Volume: 189
Issue: 1-4
Pages: 175-85
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Publication
14747736 | -
First Author: Oefner C
Year: 2004
Journal: Acta Crystallogr D Biol Crystallogr
Title: Structural analysis of neprilysin with various specific and potent inhibitors.
Volume: 60
Issue: Pt 2
Pages: 392-6
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Publication
15544566 | -
First Author: Kiryu-Seo S
Year: 2004
Journal: Protein Pept Lett
Title: DINE (damage induced neuronal endopeptidase).
Volume: 11
Issue: 5
Pages: 451-60
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Publication
18992253 | -
First Author: Schulz H
Year: 2009
Journal: J Mol Biol
Title: Structure of human endothelin-converting enzyme I complexed with phosphoramidon.
Volume: 385
Issue: 1
Pages: 178-87
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Publication
10698686 | -
 
First Author: Valdenaire O
Year: 2000
Journal: Biochem J
Title: Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration.
Volume: 346 Pt 3
Pages: 611-6
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Publication
16526590 | -
First Author: Kiryu-Seo S
Year: 2006
Journal: Anat Sci Int
Title: Identification and functional analysis of damage-induced neuronal endopeptidase (DINE), a nerve injury associated molecule.
Volume: 81
Issue: 1
Pages: 1-6
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Publication
16423827 | -
First Author: Sha Q
Year: 2006
Journal: J Biol Chem
Title: Endothelin-3-converting enzyme activity of the KEL1 and KEL6 phenotypes of the Kell blood group system.
Volume: 281
Issue: 11
Pages: 7180-2
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Publication
10791880 | -
First Author: Lee S
Year: 2000
Journal: Semin Hematol
Title: The Kell blood group system: Kell and XK membrane proteins.
Volume: 37
Issue: 2
Pages: 113-21
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Protein Domain
IPR000718 | Peptidase_M13
Type: Family
Description: This group of metallopeptidases belong to the MEROPS peptidase family M13 (neprilysin family, clan MA(E)). The M13 family includes neprilysin (neutral endopeptidase, NEP, enkephalinase, CD10, CALLA, ), endothelin-converting enzyme I (ECE-1, ), erythrocyte surface antigen KELL (ECE-3), phosphate-regulating gene on the X chromosome (PHEX), soluble secreted endopeptidase (SEP), and damage-induced neuronal endopeptidase (DINE)/X-converting enzyme (XCE). These proteins consist of a short N-terminal cytoplasmic domain, a single transmembrane helix, and a larger C-terminal extracellular domain containing the active site. The cytoplasmic domain contains a conformationally-restrained octapeptide, which is thought to act as a stop transfer sequence that prevents proteolysis and secretion [, ]. Proteins in this family fulfill a broad range of physiological roles due to the greater variation in the S2' subsite allowing substrate specificity [, ]. The protein fold of the peptidase domain for members of this family resembles that of thermolysin, the type example for clan MA and the predicted active site residues for members of this family and thermolysin occur in the motif HEXXH [].M13 peptidases are well-studied proteases found in a wide range of organisms including mammals and bacteria. In mammals they participate in processes such as cardiovascular development, blood-pressure regulation, nervous control of respiration, and regulation of the function of neuropeptides in the central nervous system. In bacteria they may be used for digestion of milk [, ]. The family includes eukaryotic and prokaryotic oligopeptidases, as well as some of the proteins responsible for the molecular basis of the blood group antigens e.g. Kell []. Neprilysin (NEP), is expressed in a variety of tissues including kidney and brain, and is involved in many physiological and pathological processes, including blood pressure and inflammatory response. It is a plasma membrane-bound mammalian enzyme that is able to digest biologically-active peptides, including enkephalins [], substance P, cholecystokinin, neurotensin and somatostatin. It is an important enzyme in the regulation of amyloid-beta (Abeta) protein that forms amyloid plaques that are associated with Alzeimers disease (AD). The zinc ligands of neprilysin are known and are analogous to those in thermolysin, a related peptidase [, ]. Neprilysins, like thermolysin, are inhibited by phosphoramidon, which appears to selectively inhibit this family in mammals. The enzymes are all oligopeptidases, digesting oligo- and polypeptides, but not proteins [].ECE-1 catalyzes the final rate-limiting step in the biosynthesis of endothelins via post-translational conversion of the biologically inactive big endothelins. Like NEP, it also hydrolyses bradykinin, substance P, neurotensin and Abeta. Endothelin-1 overproduction has been implicated in various diseases, including stroke, asthma, hypertension, and cardiac and renal failure. Kell is a homologue of NEP and constitutes a major antigen on human erythrocytes; it preferentially cleaves big endothelin-3 to produce bioactive endothelin-3, but is also known to cleave substance P and neurokinin A. PHEX forms a complex interaction with fibroblast growth factor 23 (FGF23) and matrix extracellular phosphoglycoprotein, causing bone mineralization. A loss-of-function mutation in PHEX disrupts this interaction leading to hypophosphatemic rickets; X-linked hypophosphatemic (XLH) rickets is the most common form of metabolic rickets. ECEL1 is a brain metalloprotease involved in the critical role in the nervous regulation of the respiratory system, while DINE (damage induced neuronal endopeptidase) is abundantly expressed in the hypothalamus and its expression responds to nerve injury as well. Thus, majority of these M13 proteases are prime therapeutic targets for selective inhibition [, , , , , , , , , , , ].
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Publication
21854758 | J:177539
First Author: Kim TH
Year: 2011
Journal: Biochem Biophys Res Commun
Title: Constitutive stabilization of ß-catenin in the dental mesenchyme leads to excessive dentin and cementum formation.
Volume: 412
Issue: 4
Pages: 549-55
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Publication
25710686 | J:226299
First Author: Bouet G
Year: 2015
Journal: PLoS One
Title: The impairment of osteogenesis in bone sialoprotein (BSP) knockout calvaria cell cultures is cell density dependent.
Volume: 10
Issue: 2
Pages: e0117402
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Publication
15470265 | J:93370
First Author: Rowe PS
Year: 2004
Journal: Crit Rev Oral Biol Med
Title: The wrickkened pathways of FGF23, MEPE and PHEX.
Volume: 15
Issue: 5
Pages: 264-81
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Publication
28928248 | J:268082
First Author: Shi C
Year: 2018
Journal: FASEB J
Title: Carbonic anhydrase III protects osteocytes from oxidative stress.
Volume: 32
Issue: 1
Pages: 440-452
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Publication
36153352 | J:334765
First Author: Hurley MM
Year: 2022
Journal: Sci Rep
Title: FGF receptor inhibitor BGJ398 partially rescues osteoarthritis-like phenotype in older high molecular weight FGF2 transgenic mice via multiple mechanisms.
Volume: 12
Issue: 1
Pages: 15968
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Protein
A0A0A6YXM8
Organism: Mus musculus/domesticus
Length: 69  
Fragment?: true
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Publication
15893768 | -
First Author: Kyrieleis OJ
Year: 2005
Journal: J Mol Biol
Title: Crystal structures of the tricorn interacting factor F3 from Thermoplasma acidophilum, a zinc aminopeptidase in three different conformations.
Volume: 349
Issue: 4
Pages: 787-800
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Protein
A0A0A6YW93
Organism: Mus musculus/domesticus
Length: 187  
Fragment?: true
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Protein
A0A0A6YWA6
Organism: Mus musculus/domesticus
Length: 130  
Fragment?: true
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Protein
A0A0A6YWB9
Organism: Mus musculus/domesticus
Length: 178  
Fragment?: true
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Protein
Q8BNU9
Organism: Mus musculus/domesticus
Length: 279  
Fragment?: true
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Protein
Q3TUZ3
Organism: Mus musculus/domesticus
Length: 252  
Fragment?: true
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Protein
B1AXF8
Organism: Mus musculus/domesticus
Length: 205  
Fragment?: true
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Protein
B1AS18
Organism: Mus musculus/domesticus
Length: 150  
Fragment?: true
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Protein
A0A0A6YY36
Organism: Mus musculus/domesticus
Length: 133  
Fragment?: true
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Publication
8099556 | -
First Author: Le Moual H
Year: 1993
Journal: FEBS Lett
Title: Substitution of potential metal-coordinating amino acid residues in the zinc-binding site of endopeptidase-24.11.
Volume: 324
Issue: 2
Pages: 196-200
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Publication
10849750 | -
 
First Author: Turner AJ
Year: 2000
Journal: Adv Exp Med Biol
Title: The neprilysin family in health and disease.
Volume: 477
Pages: 229-40
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Protein
P0DPD9
Organism: Mus musculus/domesticus
Length: 881  
Fragment?: false
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Protein
Q9JMI0
Organism: Mus musculus/domesticus
Length: 775  
Fragment?: false
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Protein
Q9JLI3
Organism: Mus musculus/domesticus
Length: 765  
Fragment?: false
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Protein
B2RQR8
Organism: Mus musculus/domesticus
Length: 763  
Fragment?: false
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Protein
Q9EQF2
Organism: Mus musculus/domesticus
Length: 713  
Fragment?: false
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Protein
Q4PZA2
Organism: Mus musculus/domesticus
Length: 769  
Fragment?: false
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Protein
Q61391
Organism: Mus musculus/domesticus
Length: 750  
Fragment?: false
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Protein
Q8C099
Organism: Mus musculus/domesticus
Length: 709  
Fragment?: false
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Protein
F6WM66
Organism: Mus musculus/domesticus
Length: 527  
Fragment?: true
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Protein
Q8K0P0
Organism: Mus musculus/domesticus
Length: 526  
Fragment?: true
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Protein
B1AS17
Organism: Mus musculus/domesticus
Length: 782  
Fragment?: false
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Protein
E9QPA9
Organism: Mus musculus/domesticus
Length: 780  
Fragment?: false
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Protein
Q80Z57
Organism: Mus musculus/domesticus
Length: 763  
Fragment?: false
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Protein
E9Q1S5
Organism: Mus musculus/domesticus
Length: 709  
Fragment?: false
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Protein
A0A0A6YVT2
Organism: Mus musculus/domesticus
Length: 286  
Fragment?: true
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Protein
E9PVK7
Organism: Mus musculus/domesticus
Length: 766  
Fragment?: false
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Protein
Q80Z58
Organism: Mus musculus/domesticus
Length: 734  
Fragment?: false
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Protein
Q3TX93
Organism: Mus musculus/domesticus
Length: 775  
Fragment?: false
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Protein
Q3TYM9
Organism: Mus musculus/domesticus
Length: 749  
Fragment?: false
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Protein
Q923T6
Organism: Mus musculus/domesticus
Length: 763  
Fragment?: false
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Protein
B1AS15
Organism: Mus musculus/domesticus
Length: 768  
Fragment?: false
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Protein
A0A183ZRM3
Organism: Mus musculus/domesticus
Length: 753  
Fragment?: false
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Protein
B1AS16
Organism: Mus musculus/domesticus
Length: 745  
Fragment?: false
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Protein
B2RPX5
Organism: Mus musculus/domesticus
Length: 742  
Fragment?: false
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Publication
3555489 | -
First Author: Malfroy B
Year: 1987
Journal: Biochem Biophys Res Commun
Title: Molecular cloning and amino acid sequence of rat enkephalinase.
Volume: 144
Issue: 1
Pages: 59-66
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Publication
11223883 | -
First Author: Turner AJ
Year: 2001
Journal: Bioessays
Title: The neprilysin (NEP) family of zinc metalloendopeptidases: genomics and function.
Volume: 23
Issue: 3
Pages: 261-9
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Publication
7674922 | -
 
First Author: Rawlings ND
Year: 1995
Journal: Methods Enzymol
Title: Evolutionary families of metallopeptidases.
Volume: 248
Pages: 183-228
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Publication
21183079 | J:292518
First Author: Huttlin EL
Year: 2010
Journal: Cell
Title: A tissue-specific atlas of mouse protein phosphorylation and expression.
Volume: 143
Issue: 7
Pages: 1174-89
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Publication
19468303 | -
First Author: Church DM
Year: 2009
Journal: PLoS Biol
Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.
Volume: 7
Issue: 5
Pages: e1000112
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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