Entity Details

Primary name CBS_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35520
EntryNameCBS_HUMAN
FullNameCystathionine beta-synthase
TaxID9606
Evidenceevidence at protein level
Length551
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesCBSL
CBS

GO terms

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GOName
GO:0004122 cystathionine beta-synthase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006535 cysteine biosynthetic process from serine
GO:0006563 L-serine metabolic process
GO:0006565 L-serine catabolic process
GO:0019343 cysteine biosynthetic process via cystathionine
GO:0019344 cysteine biosynthetic process
GO:0019346 transsulfuration
GO:0019448 L-cysteine catabolic process
GO:0019825 oxygen binding
GO:0019899 enzyme binding
GO:0020037 heme binding
GO:0030170 pyridoxal phosphate binding
GO:0031625 ubiquitin protein ligase binding
GO:0042262 DNA protection
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043418 homocysteine catabolic process
GO:0046872 metal ion binding
GO:0050421 nitrite reductase (NO-forming) activity
GO:0050667 homocysteine metabolic process
GO:0070025 carbon monoxide binding
GO:0070026 nitric oxide binding
GO:0070814 hydrogen sulfide biosynthetic process
GO:0072341 modified amino acid binding
GO:1904047 S-adenosyl-L-methionine binding

Subcellular Location

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Subcellular Location
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000644 CBS domainDomainDomain
IPR001216 Cysteine synthase/cystathionine beta-synthase, pyridoxal-phosphate attachment siteSiteBinding site
IPR001926 Pyridoxal-phosphate dependent enzymeDomainDomain
IPR005857 Cystathionine beta-synthaseFamilyFamily
IPR036052 Tryptophan synthase beta subunit-like PLP-dependent enzymeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
236200 OMIMCystathionine beta-synthase deficiency (CBSD)An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB00114 Pyridoxal phosphateDrugbanksmall molecule
DB00118 AdemetionineDrugbanksmall molecule
DB00133 SerineDrugbanksmall molecule
DB00151 CysteineDrugbanksmall molecule

Interactions

31 interactions

InteractorPartnerSourcesPublicationsLink
CBS_HUMANVTA1_HUMANBioGRID, HPRD, IntAct16189514 31515488 details
CBS_HUMANFXR2_HUMANBioGRID, HPRD, IntAct, MINT16189514 21653829 31515488 details
CBS_HUMANHID1_HUMANBioGRID, HPRD, IntAct16189514 31515488 details
CBS_HUMANCBS_HUMANBioGRID, HPRD, IntAct, MINT11173483 11483494 12173932 16189514 19447967 21516116 21900206 25416956 25502805 31515488 details
CBS_HUMANCERT_HUMANBioGRID, IntAct19447967 details
CBS_HUMANUGPA_HUMANBioGRID, IntAct21988832 details
CBS_HUMANDAXX_HUMANBioGRID, IntAct21988832 details
CBS_HUMANKAP0_HUMANBioGRID, MINT21900206 details
CBS_HUMANZDH17_HUMANBioGRID, IntAct24705354 details
CBS_HUMANPSA1_HUMANBioGRID, IntAct25416956 31515488 details
CBS_HUMANAAKG1_HUMANBioGRID, IntAct25416956 details
CBS_HUMANUBS3A_HUMANBioGRID, IntAct25416956 31515488 details
CBS_HUMANECHP_HUMANBioGRID, IntAct25416956 31515488 details
CBS_HUMANPIN1_HUMANBioGRID, IntAct25416956 31515488 details
CBS_HUMANNTAQ1_HUMANBioGRID, IntAct27107012 details
CBS_HUMANCBSL_HUMANBioGRID, HPRD11173483 11483494 12173932 16189514 19447967 21516116 21900206 25416956 details
CBS_HUMANHGS_HUMANBioGRID19019082 details
CBS_HUMANPIAS1_HUMANBioGRID17087506 details
CBS_HUMANPIAS3_HUMANBioGRID17087506 details
CBS_HUMANUBC9_HUMANBioGRID17087506 25416956 32296183 details
CBS_HUMANRANB9_HUMANBioGRID17087506 details
CBS_HUMANCBX4_HUMANBioGRID17087506 details
CBS_HUMANPIAS2_HUMANBioGRID32296183 details
CBS_HUMANZMYM5_HUMANBioGRID32296183 details
CBS_HUMANOGT1_HUMANBioGRID32994395 details
CBS_HUMANHD_HUMANHPRD10434301 9466992 details
CBS_HUMANPA2G4_HUMANBioGRID, IntAct27173435 unassigned1312 details
CBS_HUMANNEK7_HUMANBioGRID, IntAct27173435 unassigned1312 details
CBS_HUMANUBE2N_HUMANBioGRID, IntAct27173435 unassigned1312 details
CBS_HUMANTRAP1_HUMANBioGRID, IntAct27173435 unassigned1312 details
CBS_HUMANFXR1_HUMANMINT21653829 details