Entity Details

Primary name CBSL
Entity type gene
Source Source Link

Details

PrimaryID102724560
RefseqGene
SymbolCBSL
Namecystathionine beta-synthase like
Chromosome21
Location21p12
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2014-01-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsCBSL_HUMAN
CBS_HUMAN

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

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.

Interactions

52 interactions

InteractorPartnerSourcesPublicationsLink
CBSLVTA1IntAct16189514 31515488 details
CBSLFXR2IntAct, MINT16189514 21653829 31515488 details
CBSLHID1IntAct16189514 31515488 details
CBSLCBSLIntAct, MINT16189514 19447967 21900206 25416956 25502805 31515488 details
CBSLCBSIntAct, MINT16189514 19447967 21900206 25416956 25502805 31515488 details
CBSLUGP2IntAct21988832 details
CBSLDAXXIntAct21988832 details
CBSLPRKAR1AMINT21900206 details
CBSLZDHHC17IntAct24705354 details
CBSLPSMA1IntAct25416956 31515488 details
CBSLPRKAG1IntAct25416956 details
CBSLUBASH3AIntAct25416956 31515488 details
CBSLEHHADHIntAct25416956 31515488 details
CBSLPIN1IntAct25416956 31515488 details
CBSLPIAS2BioGRID, IntAct32296183 details
CBSLZMYM5BioGRID, IntAct32296183 details
CBSLGALIntAct32814053 details
CBSLKAT5IntAct32814053 details
CBSLCYTH1IntAct32814053 details
CBSLFKBP6IntAct32814053 details
CBSLPRKACAIntAct32814053 details
CBSLFYNIntAct32814053 details
CBSLCTNNB1IntAct32814053 details
CBSLCAMK2AIntAct32814053 details
CBSLHTTIntAct32814053 details
CBSLUBE2IBioGRID32296183 details
CBSLOGTBioGRID32994395 details
CBSLCERT1IntAct19447967 details
CBSLNTAQ1IntAct27107012 details
CBSLPA2G4IntActunassigned1312 details
CBSLNEK7IntActunassigned1312 details
CBSLUBE2NIntActunassigned1312 details
CBSLTRAP1IntActunassigned1312 details
CBSLFXR1MINT21653829 details
CBSLGABARAPIntAct20562859 details
CBSLOTUB1IntAct26752685 details
CBSLHSPA8IntAct25910212 details
CBSLHSP90AB1IntAct25910212 details
CBSLTPM1IntAct30021884 details
CBSLEIF3BIntAct30021884 details
CBSLTPT1MINT27607350 details
CBSLLRRK2IntAct31046837 details
CBSLARHGAP29IntAct32203420 details
CBSLPREX1IntAct32203420 details
CBSLARHGAP11BIntAct32203420 details
CBSLZDHHC5UniProt31402609 details
CBSLNR2C2BioGRID30463901 details
CBSLANKRD55BioGRID31620119 details
CBSLKIF14BioGRID31586073 details
CBSLUFL1BioGRID32807901 details
CBSLDDRGK1BioGRID32807901 details
CBSLTRIM25BioGRID29117863 details