Gene table of CBS : cystathionine-beta-synthase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CBS	OMIM link	Number of associated genes	genes
236200	HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	CBS

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Glycine, serine and threonine metabolism	hsa00260	7.45
Biosynthesis of amino acids	hsa01230	6.58
Metabolic pathways	hsa01100	2.49
Cysteine and methionine metabolism	hsa00270	7.56

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cysteine formation from homocysteine	R-HSA-1614603	11.98
Metabolism of amino acids and derivatives	R-HSA-71291	5.4
Sulfur amino acid metabolism	R-HSA-1614635	8.46
Metabolism	R-HSA-1430728	2.34

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ubiquitin-like protein ligase binding	GO:0044389	4.15
enzyme binding	GO:0019899	2.27
binding	GO:0005488	0.18
heterocyclic compound binding	GO:1901363	1.06
oxidoreductase activity	GO:0016491	3.12
sulfur compound binding	GO:1901681	4.32
cation binding	GO:0043169	1.4
nitrite reductase activity	GO:0098809	9.74
lyase activity	GO:0016829	4.53
nitric oxide binding	GO:0070026	9.05
carbon monoxide binding	GO:0070025	9.74
ion binding	GO:0043167	1.36
oxidoreductase activity, acting on other nitrogenous compounds as donors	GO:0016661	8.64
oxidoreductase activity, acting on other nitrogenous compounds as donors, cytochrome as acceptor	GO:0016662	9.74
metal ion binding	GO:0046872	1.41
identical protein binding	GO:0042802	2.63
protein homodimerization activity	GO:0042803	3.16
anion binding	GO:0043168	4.17
heme binding	GO:0020037	4.86
cystathionine beta-synthase activity	GO:0004122	9.05
cysteine synthase activity	GO:0004124	9.74
catalytic activity	GO:0003824	1.05
ubiquitin protein ligase binding	GO:0031625	4.17
cofactor binding	GO:0048037	4.16
nitrite reductase (NO-forming) activity	GO:0050421	9.74
oxygen binding	GO:0019825	5.89
modified amino acid binding	GO:0072341	5.56
tetrapyrrole binding	GO:0046906	4.8
organic cyclic compound binding	GO:0097159	1.05
hydro-lyase activity	GO:0016836	5.81
S-adenosyl-L-methionine binding	GO:1904047	9.74
protein binding	GO:0005515	0.46
carbon-oxygen lyase activity	GO:0016835	5.46
protein dimerization activity	GO:0046983	2.72
pyridoxal phosphate binding	GO:0030170	5.83