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MGI:Cbs

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Contents

Species (Taxon ID) Mus musculus (house mouse) (taxon:10090)
Gene Name(s) Cbs ( synonyms: HIP4 )
Protein Name(s) cystathionine beta-synthase,
External Links
MGI MGI:88285

Annotations

Qualifier GO ID GO term name Reference Evidence Code with/from Aspect Notes Status
GO:0001958

endochondral ossification

MGI:MGI:3656462
PMID:15622513[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0001974

blood vessel remodeling

MGI:MGI:3625574
PMID:12433838[2]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0003824

catalytic activity

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR001926

F

From MGI

GO:0004122

cystathionine beta-synthase activity

MGI:MGI:1888627
PMID:10953023[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

F

From MGI

GO:0004122

cystathionine beta-synthase activity

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

F

From MGI

GO:0004122

cystathionine beta-synthase activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0004122

cystathionine beta-synthase activity

MGI:MGI:71081
PMID:7878023[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

F

From MGI

GO:0004124

cysteine synthase activity

MGI:MGI:2152096

IEA: Inferred from Electronic Annotation

EC:2.5.1.47

F

From MGI

GO:0005625

soluble fraction

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

C

From MGI

GO:0005634

nucleus

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

C

From MGI

GO:0005730

nucleolus

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:B7Z2D6

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0963

C

From MGI

GO:0005737

cytoplasm

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR005857

C

From MGI

GO:0005829

cytosol

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

C

From MGI

GO:0006535

cysteine biosynthetic process from serine

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR001216

P

From MGI

GO:0006563

L-serine metabolic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0006565

L-serine catabolic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0006801

superoxide metabolic process

MGI:MGI:1888627
PMID:10953023[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0008152

metabolic process

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR001926

P

From MGI

GO:0008652

cellular amino acid biosynthetic process

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0028

P

From MGI

GO:0016740

transferase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0808

F

From MGI

GO:0016829

lyase activity

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0456

F

From MGI

GO:0019343

cysteine biosynthetic process via cystathionine

MGI:MGI:2152098

IEA: Inferred from Electronic Annotation

InterPro:IPR005857

P

From MGI

GO:0019344

cysteine biosynthetic process

MGI:MGI:3044255
PMID:15030387[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0019346

transsulfuration

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

P

From MGI

GO:0019448

L-cysteine catabolic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0019899

enzyme binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0020037

heme binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0021587

cerebellum morphogenesis

MGI:MGI:3607901
PMID:16160063[6]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0030170

pyridoxal phosphate binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0030823

regulation of cGMP metabolic process

MGI:MGI:1888627
PMID:10953023[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0031625

ubiquitin protein ligase binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0042803

protein homodimerization activity

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI

GO:0043066

negative regulation of apoptotic process

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

P

From MGI

GO:0043231

intracellular membrane-bounded organelle

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:B7Z2D6

C

From MGI

GO:0043418

homocysteine catabolic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0043506

regulation of JUN kinase activity

MGI:MGI:3044255
PMID:15030387[5]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0046872

metal ion binding

MGI:MGI:1354194

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0479

F

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:1888627
PMID:10953023[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:1890086
PMID:10993757[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3039983
PMID:15131763[8]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3510570
PMID:15555590[9]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3611588
PMID:15916860[10]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3656462
PMID:15622513[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3656462
PMID:15622513[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3663564
PMID:16226235[11]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:3798351
PMID:18541157[12]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0050667

homocysteine metabolic process

MGI:MGI:71081
PMID:7878023[4]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0050880

regulation of blood vessel size

MGI:MGI:1888627
PMID:10953023[3]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0051593

response to folic acid

MGI:MGI:1890086
PMID:10993757[7]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0060135

maternal process involved in female pregnancy

MGI:MGI:3690257
PMID:16984962[13]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0060351

cartilage development involved in endochondral bone morphogenesis

MGI:MGI:3656462
PMID:15622513[1]

IMP: Inferred from Mutant Phenotype

MGI:MGI:1857139

P

From MGI

GO:0070814

hydrogen sulfide biosynthetic process

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

P

From MGI

GO:0070814

hydrogen sulfide biosynthetic process

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

P

From MGI

GO:0071456

cellular response to hypoxia

MGI:MGI:4417868

ISO: Inferred from Sequence Orthology

UniProtKB:P32232

P

From MGI

GO:0072341

modified amino acid binding

MGI:MGI:4834177

ISO: Inferred from Sequence Orthology

UniProtKB:P35520

F

From MGI


Notes

References

See Help:References for how to manage references in GONUTS.
  1. 1.0 1.1 1.2 1.3 Robert K et al. (2005) Cystathionine beta synthase deficiency affects mouse endochondral ossification. Anat Rec A Discov Mol Cell Evol Biol 282: 1-7 PubMed GONUTS page
  2. Baumbach GL et al. (2002) Structure of cerebral arterioles in cystathionine beta-synthase-deficient mice. Circ Res 91: 931-7 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 Eberhardt RT et al. (2000) Endothelial dysfunction in a murine model of mild hyperhomocyst(e)inemia. J Clin Invest 106: 483-91 PubMed GONUTS page
  4. 4.0 4.1 Watanabe M et al. (1995) Mice deficient in cystathionine beta-synthase: animal models for mild and severe homocyst(e)inemia. Proc Natl Acad Sci U S A 92: 1585-9 PubMed GONUTS page
  5. 5.0 5.1 Robert K et al. (2004) The neuronal SAPK/JNK pathway is altered in a murine model of hyperhomocysteinemia. J Neurochem 89: 33-43 PubMed GONUTS page
  6. Enokido Y et al. (2005) Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS. FASEB J 19: 1854-6 PubMed GONUTS page
  7. 7.0 7.1 Lentz SR et al. (2000) Folate dependence of hyperhomocysteinemia and vascular dysfunction in cystathionine beta-synthase-deficient mice. Am J Physiol Heart Circ Physiol 279: H970-5 PubMed GONUTS page
  8. Schwahn BC et al. (2004) Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. Metabolism 53: 594-9 PubMed GONUTS page
  9. Bar-Or D et al. (2004) Plasma albumin cysteinylation is regulated by cystathionine beta-synthase. Biochem Biophys Res Commun 325: 1449-53 PubMed GONUTS page
  10. Robert K et al. (2005) Regulation of extracellular signal-regulated kinase by homocysteine in hippocampus. Neuroscience 133: 925-35 PubMed GONUTS page
  11. Tan H et al. (2006) Hyperhomocysteinemia inhibits post-injury reendothelialization in mice. Cardiovasc Res 69: 253-62 PubMed GONUTS page
  12. Hamelet J et al. (2008) Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver. Biochim Biophys Acta 1782: 482-8 PubMed GONUTS page
  13. Guzmán MA et al. (2006) Cystathionine beta-synthase is essential for female reproductive function. Hum Mol Genet 15: 3168-76 PubMed GONUTS page
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