InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CBS

Summary

InnateDB Protein

IDBP-4627.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CBS

Protein Name

cystathionine-beta-synthase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000352643

InnateDB Gene

IDBG-4623 (CBS)

Protein Structure

UniProt Annotation

Function

Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:17087506}. Nucleus {ECO:0000269PubMed:17087506}.

Disease Associations

Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]: 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. {ECO:0000269PubMed:10215408, ECO:0000269PubMed:10408774, ECO:0000269PubMed:10462600, ECO:0000269PubMed:11013450, ECO:0000269PubMed:11359213, ECO:0000269PubMed:11553052, ECO:0000269PubMed:12007221, ECO:0000269PubMed:12124992, ECO:0000269PubMed:12815602, ECO:0000269PubMed:1301198, ECO:0000269PubMed:14635102, ECO:0000269PubMed:15146473, ECO:0000269PubMed:15365998, ECO:0000269PubMed:15993874, ECO:0000269PubMed:16205833, ECO:0000269PubMed:21240075, ECO:0000269PubMed:21520339, ECO:0000269PubMed:7506602, ECO:0000269PubMed:7564249, ECO:0000269PubMed:7611293, ECO:0000269PubMed:7635485, ECO:0000269PubMed:7762555, ECO:0000269PubMed:7849717, ECO:0000269PubMed:7967489, ECO:0000269PubMed:7981678, ECO:0000269PubMed:8353501, ECO:0000269PubMed:8528202, ECO:0000269PubMed:8755636, ECO:0000269PubMed:8803779, ECO:0000269PubMed:8990018, ECO:0000269PubMed:9156316, ECO:0000269PubMed:9266356, ECO:0000269PubMed:9361025, ECO:0000269PubMed:9889017}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 46 experimentally validated interaction(s) in this database.

Experimentally validated
Total	46 [view]
Protein-Protein	43 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004122	cystathionine beta-synthase activity
GO:0005515	protein binding
GO:0019899	enzyme binding
GO:0020037	heme binding
GO:0030170	pyridoxal phosphate binding
GO:0030554	adenyl nucleotide binding
GO:0031625	ubiquitin protein ligase binding
GO:0042802	identical protein binding
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding
GO:0072341	modified amino acid binding

Biological Process

GO:0000096	sulfur amino acid metabolic process
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:0019346	transsulfuration
GO:0019448	L-cysteine catabolic process
GO:0034641	cellular nitrogen compound metabolic process
GO:0043418	homocysteine catabolic process
GO:0044281	small molecule metabolic process
GO:0050667	homocysteine metabolic process
GO:0070814	hydrogen sulfide biosynthetic process