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Search results 701 to 800 out of 1112 for Cbs

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Hits by Strain

Type Details Score
Protein
Q9WVD4
Organism: Mus musculus/domesticus
Length: 816  
Fragment?: false
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Protein
O35454
Organism: Mus musculus/domesticus
Length: 870  
Fragment?: false
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Protein
Q9WUB7
Organism: Mus musculus/domesticus
Length: 687  
Fragment?: false
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Protein
Q9WUB6
Organism: Mus musculus/domesticus
Length: 687  
Fragment?: false
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Protein
Q64347
Organism: Mus musculus/domesticus
Length: 994  
Fragment?: false
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Protein
Q5DU51
Organism: Mus musculus/domesticus
Length: 696  
Fragment?: true
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Protein
F6QI82
Organism: Mus musculus/domesticus
Length: 923  
Fragment?: true
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Protein
Q3UL16
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
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Protein
E9Q741
Organism: Mus musculus/domesticus
Length: 731  
Fragment?: false
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Protein
Q8CI67
Organism: Mus musculus/domesticus
Length: 746  
Fragment?: false
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Protein
A2A7F6
Organism: Mus musculus/domesticus
Length: 873  
Fragment?: false
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Protein
Q8K3N1
Organism: Mus musculus/domesticus
Length: 890  
Fragment?: true
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Protein
Q3UM91
Organism: Mus musculus/domesticus
Length: 870  
Fragment?: false
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Protein
P50096
Organism: Mus musculus/domesticus
Length: 514  
Fragment?: false
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Protein
P24547
Organism: Mus musculus/domesticus
Length: 514  
Fragment?: false
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Protein
Q3UAT9
Organism: Mus musculus/domesticus
Length: 514  
Fragment?: false
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Protein
F7DEU6
Organism: Mus musculus/domesticus
Length: 538  
Fragment?: false
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Protein
Q3U9N8
Organism: Mus musculus/domesticus
Length: 514  
Fragment?: false
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Protein
E0CYE2
Organism: Mus musculus/domesticus
Length: 489  
Fragment?: false
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Protein
Q3UPJ2
Organism: Mus musculus/domesticus
Length: 514  
Fragment?: false
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Protein
Q9R0A1
Organism: Mus musculus/domesticus
Length: 908  
Fragment?: false
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Protein
A0A338P673
Organism: Mus musculus/domesticus
Length: 864  
Fragment?: false
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Protein
Q3TBI1
Organism: Mus musculus/domesticus
Length: 886  
Fragment?: true
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Protein
A9C437
Organism: Mus musculus/domesticus
Length: 891  
Fragment?: false
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Protein
Q3TWN3
Organism: Mus musculus/domesticus
Length: 875  
Fragment?: false
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Protein
Q69ZF7
Organism: Mus musculus/domesticus
Length: 771  
Fragment?: false
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Protein
D3Y2F8
Organism: Mus musculus/domesticus
Length: 644  
Fragment?: false
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Protein
C6KI93
Organism: Mus musculus/domesticus
Length: 671  
Fragment?: false
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Genotype
Genotype
Symbol: Cbs/Cbs Tg(Mt1-CBS*I278T)1Waku/?
Background: involves: 129P2/OlaHsd * C3H * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs Tg(CBS)11181Eri/?
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: cx
Has Mutant Allele: true
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Publication
18021800 | -
First Author: Proudfoot M
Year: 2008
Journal: J Mol Biol
Title: Biochemical and structural characterization of a novel family of cystathionine beta-synthase domain proteins fused to a Zn ribbon-like domain.
Volume: 375
Issue: 1
Pages: 301-15
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Protein Domain
IPR016427 | UCP004699_CBS/ParB
Type: Family
Description: This group represents an uncharacterised protein with CBS and ParB-like domains.
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Protein Domain
IPR016436 | UCP005063_CBS
Type: Family
Description: This group represents an uncharacterised protein with CBS domain pair, MJ1232 type.
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Protein Domain
IPR016483 | UCP006404_Pept_M50_CBS
Type: Family
Description: This group represents an uncharacterised protein with peptidase M50 and CBS domains.
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Protein Domain
IPR016486 | UCP006591_CBS
Type: Family
Description: This group represents an uncharacterised protein with CBS domain pair, MJ1004 type.
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Protein Domain
IPR012157 | UCP_CBS_CP12
Type: Family
Description: This group represents a predicted uncharacterised protein with CBS and CP12 domains.
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Protein Domain
IPR014651 | UCP036983_2CBS_MJ1404
Type: Family
Description: This group represents an uncharacterised protein with 2 CBS domain pairs, MJ1404 type.
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Protein Domain
IPR017036 | UCP035040_CBS
Type: Family
Description: This group represents an uncharacterised protein with CBS domain pair, Lmo0553 type.
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Protein Domain
IPR017080 | UCP036990_CBS_BON
Type: Family
Description: This group represents an uncharacterised protein with CBS and BON domains.
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GO Term
GO:0031052 | programmed DNA elimination by chromosome breakage
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Publication
16541333 | J:124730
First Author: Butler C
Year: 2006
Journal: Behav Genet
Title: The production of transgenic mice expressing human cystathionine beta-synthase to study Down syndrome.
Volume: 36
Issue: 3
Pages: 429-38
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Publication
22253703 | J:184325
First Author: Régnier V
Year: 2012
Journal: PLoS One
Title: Brain phenotype of transgenic mice overexpressing cystathionine β-synthase.
Volume: 7
Issue: 1
Pages: e29056
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HT Experiment
E-GEOD-5313 | Transcription profiling of mouse carotid bodies from A/J vs.DBA/2J
Series Id: GSE5313
Experiment Type: transcription profiling by array
Study Type: Baseline
Source: ArrayExpress
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HT Experiment
E-GEOD-63948 | TDRD6 instructs correct assembly of mRNPs in the chromatoid body to potentiate UPF1 dependent mRNA decay
Series Id: GSE63948
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
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Protein Domain
IPR010766 | DRTGG
Type: Domain
Description: This presumed domain is about 120 amino acids in length. It is found associated with CBS domains , as well as the CbiA domain . The function of this domain is unknown. It is named the DRTGG domain after some of the most conserved residues. This domain may be very distantly related to a pair of CBS domains. There are no significant sequence similarities, but its length and association with CBS domains supports this idea.
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Allele
Tg(Mt1-CBS*I278T)1Waku | MGI:3851388
Name: transgene insertion 1, Warren Kruger
Allele Type: Transgenic
Attribute String: Inserted expressed sequence
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Allele
Abcg1<tm1Yah> | MGI:4421206
 
Name: ATP binding cassette subfamily G member 1; targeted mutation 1, Yann Herault
Allele Type: Targeted
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Allele
Is(17B1)1Yah | MGI:4431358
Name: insertion, Chr 17, cytogenetic band B1, Yann Herault 1
Allele Type: Targeted
Attribute String: Reporter
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Allele
Tg(CBS)11181Eri | MGI:5462465
Name: transgene insertion 11181, Eleanor Roosevelt Institute
Allele Type: Transgenic
Attribute String: Humanized sequence, Inserted expressed sequence
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Allele
Tg(Prnp-GFP,-CBS)48Yah | MGI:6468530
Name: transgene insertion 48, Yann Herault
Allele Type: Transgenic
Attribute String: Conditional ready, Inserted expressed sequence, Reporter
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Allele
Tg(Prnp-GFP,-CBS)157Yah | MGI:6468531
Name: transgene insertion 157, Yann Herault
Allele Type: Transgenic
Attribute String: Conditional ready, Inserted expressed sequence, Reporter
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Publication
20149843 | -
First Author: Tay AS
Year: 2010
Journal: Neuroscience
Title: Hydrogen sulfide protects neurons against hypoxic injury via stimulation of ATP-sensitive potassium channel/protein kinase C/extracellular signal-regulated kinase/heat shock protein 90 pathway.
Volume: 167
Issue: 2
Pages: 277-86
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Publication
8558235 | -
First Author: Abe K
Year: 1996
Journal: J Neurosci
Title: The possible role of hydrogen sulfide as an endogenous neuromodulator.
Volume: 16
Issue: 3
Pages: 1066-71
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Protein Domain
IPR046353 | CBS_C
Type: Domain
Description: This entry represents the C-terminal region of Cystathionine beta-synthase (CBS), which includes two tandem repeats of the CBS domain. CBS is an hydro-lyase that catalyses the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine [, , ]. This protein is also involved in the production of hydrogen sulphide, a gasotransmitter with signalling and cytoprotective effects on neurons [, ]. CBS domains are evolutionarily conserved structural domains found in a variety of non functionally-related proteins from all kingdoms of life. These domains pair together to form a intramolecular dimeric structure (CBS pair), termed Bateman domain [, , , ]. CBS domains have been shown to bind mainly ligands with an adenosyl group such as AMP, ATP and S-AdoMet, but may also bind metal ions, or nucleic acids [, ]. Hence, they play an essential role in the regulation of the activities of numerous proteins, and mutations in them are associated with several hereditary diseases [, , ]. CBS domains are found attached to a wide range of other protein domains suggesting that CBS domains may play a regulatory role making proteins sensitive to adenosyl-carrying ligands. The region containing the CBS domains in cystathionine-beta synthase is involved in regulation by S-AdoMet []. CBS domain pairs from AMPK bind AMP or ATP []. The CBS domains from IMPDH, which bind ATP, have shown to have a role in the regulation of adenylate nucleotide synthesis [, ].
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Publication
23981774 | -
First Author: Casique L
Year: 2013
Journal: Gene
Title: Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Volume: 531
Issue: 1
Pages: 117-24
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Publication
20506325 | -
First Author: Kozich V
Year: 2010
Journal: Hum Mutat
Title: Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Volume: 31
Issue: 7
Pages: 809-19
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Protein Domain
IPR038076 | MgtE_N_sf
Type: Homologous_superfamily
Description: The Mg2+ transporter MgtE is an homodimeric transporter consisting of two cytosolic domains, the N-terminal domain and the CBS domain, and a C-terminal transmembrane domain with five membrane-spanning helices per monomer [].This domain is found at the N terminus of eubacterial magnesium transporters of the MgtE family . This domain is an intracellular domain that has an α-helical structure. The crystal structure of the MgtE transporter []shows two of 5 magnesium ions are in the interface between the N domain and the CBS domains. In the absence of magnesium there is a large shift between the N and CBS domains.
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Publication
23592311 | J:317567
First Author: Gupta S
Year: 2013
Journal: Hum Mutat
Title: Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.
Volume: 34
Issue: 8
Pages: 1085-93
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Strain
MGI:2165066 | B6.129P2-Cbs<tm1Unc>/J
Attribute String: congenic, mutant strain, targeted mutation
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Strain
MGI:6334016 | C3H.129P2-Cbs<tm1Unc>
Attribute String: mutant strain, targeted mutation, congenic
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Strain
MGI:2163619 | B6;129P2-Cbs<tm1Unc>/J
Attribute String: targeted mutation, mutant stock
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Genotype
Genotype
Symbol: Cbs/Cbs
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs<+>
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs<+>
Background: B6.129P2-Cbs/J
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs Tg(Mt1-CBS*S466L)EB86Waku/?
Background: involves: 129P2/OlaHsd * C3H * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs Tg(Mt1-CBS)25Waku/?
Background: involves: 129P2/OlaHsd * C3H * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs
Background: B6.129P2-Cbs/J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs
Background: involves: 129P2/OlaHsd * C3H/HeJ * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Apoe/Apoe Cbs/Cbs Tg(Mt1-CBS)25Waku/?
Background: involves: 129P2/OlaHsd * C3H * C57BL/6
Zygosity: cx
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs<+>
Background: involves: 129P2/OlaHsd
Zygosity: ht
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Cbs/Cbs
Background: involves: 129P2/OlaHsd
Zygosity: hm
Has Mutant Allele: true
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Protein Domain
IPR006668 | Mg_transptr_MgtE_intracell_dom
Type: Domain
Description: This domain is found at the N terminus of eubacterial magnesium transporters of the MgtE family . This domain is an intracellular domain that has an α-helical structure. The crystal structure of the MgtE transporter []shows two of 5 magnesium ions are in the interface between the N domain and the CBS domains. In the absence of magnesium there is a large shift between the N and CBS domains.
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Protein Domain
IPR005170 | Transptr-assoc_dom
Type: Domain
Description: This small domain is found in a family of proteins with the CBS domain and two CBS domains with this domain found at the C terminus of the proteins, the domain is also found at the C terminus of some Na+/H+antiporters []. This domain is also found in CorC that is involved in Magnesium and cobalt efflux []. The function of this domain is uncertain but might be involved in modulating transport of ion substrates.
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Allele
Del(17Abcg1-Cbs)2Yah | MGI:4367904
 
Name: deletion, Chr 17, Yann Herault 2
Allele Type: Targeted
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Allele
Dp(17Abcg1-Cbs)1Yah | MGI:4367905
 
Name: duplication, Chr 17, Yann Herault 1
Allele Type: Targeted
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Strain
MGI:6335218 | C57BL/6-Tg(Prnp-GFP,-CBS)48Yah/Orl
Attribute String: coisogenic, mutant strain, targeted mutation
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Strain
MGI:6335571 | C57BL/6-Tg(Prnp-GFP,-CBS)157Yah/Orl
Attribute String: coisogenic, mutant strain, transgenic
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Genotype
Genotype
Symbol: Tg(CBS)11181Eri/?
Background: Not Specified
Zygosity: ot
Has Mutant Allele: true
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Publication
24706765 | J:215949
First Author: Hirata Y
Year: 2014
Journal: J Biol Chem
Title: Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter.
Volume: 289
Issue: 21
Pages: 14731-9
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GO Term
GO:0097504 | Gemini of Cajal bodies
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Publication
1301198 | -
First Author: Kozich V
Year: 1992
Journal: Hum Mutat
Title: Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Volume: 1
Issue: 2
Pages: 113-23
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Protein Domain
IPR005857 | Cysta_beta_synth
Type: Family
Description: Members of this family closely resemble cysteine synthase but contain an additional C-terminal CBS domain. Cysteine synthase (O-acetylserine (thiol)-lyase) is the enzyme responsible for the formation of cysteine from O-acetyl-serine and hydrogen sulphide with the concomitant release of acetic acid - the function of many of these enzymes is unproven.This entry includes human CBS protein, which is a hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine [, , ]. Mutations in the CBS gene cause cystathionine beta-synthase deficiency (CBSD), an enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria [, ].
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Publication
16199563 | -
First Author: Meredith TC
Year: 2005
Journal: J Bacteriol
Title: Identification of GutQ from Escherichia coli as a D-arabinose 5-phosphate isomerase.
Volume: 187
Issue: 20
Pages: 6936-42
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Publication
2134185 | -
First Author: Yamada M
Year: 1990
Journal: DNA Seq
Title: Nucleotide sequence and expression of the gutQ gene within the glucitol operon of Escherichia coli.
Volume: 1
Issue: 2
Pages: 141-5
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Publication
15720552 | -
First Author: Servant P
Year: 2005
Journal: Mol Microbiol
Title: CcpN (YqzB), a novel regulator for CcpA-independent catabolite repression of Bacillus subtilis gluconeogenic genes.
Volume: 55
Issue: 5
Pages: 1435-51
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Protein Domain
IPR004800 | KdsD/KpsF-type
Type: Family
Description: This is a family of closely related proteins with the phosphosugar-binding domain SIS (Sugar ISomerase) followed by two copies of the CBS (named after Cystathionine Beta Synthase) domain. The group includes GutQ, a protein of the glucitol operon [, ]and KpsF, a virulence factor involved in capsular polysialic acid biosynthesis in some pathogenic strains of Escherichia coli [].
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Protein Domain
IPR016842 | UCP026546_HTH-CBS
Type: Family
Description: This group represents an uncharacterised protein with a N-termial HtH domain and a C-terminal CBS domain pair. Proteins in this entry include transcriptional repressor CcpN from Bacillus subtilis. CcpN is a transcription repressor that binds to the promoter of gapB and pckA genes, preventing their expression. It acts as a regulator for catabolite repression of gluconeogenic genes [].
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Protein Domain
IPR005105 | GlnD_Uridyltrans_N
Type: Domain
Description: This domain is found associated with an N-terminal cyclic nucleotide-binding domain () and two CBS domains (). This domain, normally represents the C-terminal region, is uncharacterised; however, it seems to be similar to the nucleotidyltransferasedomain (), conserving the DXD motif, which strongly suggests that proteins containing this domain are also nucleotidyltransferases.
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Publication
24632616 | J:218619
First Author: Hardy S
Year: 2015
Journal: Oncogene
Title: The protein tyrosine phosphatase PRL-2 interacts with the magnesium transporter CNNM3 to promote oncogenesis.
Volume: 34
Issue: 8
Pages: 986-95
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Publication
8094069 | J:4208
First Author: Avramopoulos D
Year: 1993
Journal: Hum Genet
Title: Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
Volume: 90
Issue: 5
Pages: 566-8
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Strain
MGI:4834807 | B6;129P2-Del(17Abcg1-Cbs)2Yah/Orl
Attribute String: mutant stock, targeted mutation, deletion, chromosome aberration
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Strain
MGI:4367999 | B6.129P2-Del(17Abcg1-Cbs)2Yah
Attribute String: congenic, mutant strain, targeted mutation, chromosome aberration, deletion, insertion
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Publication
24752061 | J:214512
First Author: Sahún I
Year: 2014
Journal: Genetics
Title: Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome.
Volume: 197
Issue: 3
Pages: 899-912
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Strain
MGI:4368000 | B6.129P2-Dp(17Abcg1-Cbs1)1Yah
Attribute String: targeted mutation, mutant strain, insertion, deletion, chromosome aberration
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Strain
MGI:4834808 | B6;129P2-Dp(17Abcg1-Cbs)1Yah/Orl
Attribute String: chromosome aberration, duplication, mutant stock, targeted mutation
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Strain
MGI:5314651 | B6;129P2-Abcg1<tm1Yah> Is(17B1)1Yah/+ +/Orl
Attribute String: mutant stock, targeted mutation
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Genotype
Genotype
Symbol: Dp(17Abcg1-Cbs)1Yah/?
Background: B6.129P2-Dp(17Abcg1-Cbs1)1Yah
Zygosity: ot
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Del(17Abcg1-Cbs)2Yah/+
Background: B6.129P2-Del(17Abcg1-Cbs)2Yah
Zygosity: ht
Has Mutant Allele: true
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Publication
21081761 | -
First Author: Usha V
Year: 2011
Journal: Microbiology
Title: Identification of novel diphenyl urea inhibitors of Mt-GuaB2 active against Mycobacterium tuberculosis.
Volume: 157
Issue: Pt 1
Pages: 290-9
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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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