| Gene Information | |
|---|---|
| Gene Name | CBS |
| Organism | Homo sapiens (Human) |
| Gene Length | 551 |
| Protein Names | Cystathionine beta-synthase (EC 4.2.1.22) (Beta-thionase) (Serine sulfhydrase) |
| Target Name | cystathionine beta-synthase |
| Target Type | Clinical trial target |
| Gene Age | 1714 ( ENSG00000160200 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | P35520 |
| Gene Card | CBS |
| Uniprot ID | P35520 |
| Pfam | PF00571; PF00291 |
| In ASD | yes |
| Allosteric Prediction | yes (1.278923717) |
| Ortholog in Animals | Alpaca_ CBS ( ortholog_one2one ) Dog_ CBS ( ortholog_one2one ) GuineaPig_ CBS ( ortholog_one2one ) Macaque_ CBS ( ortholog_one2one ) Mouse_ Cbs ( ortholog_one2one ) Pig_ CBS ( ortholog_one2one ) Rat_ Cbs ( ortholog_one2one ) Rabbit_ CBS ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | THNSL1, SDSL, SDS, THNSL2, SRR |
| Tissue | NA |
| 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. |
| Pharmacological Animal Models | 0.022255(Chimpanzee);NULL(Mouse);NULL(Rat);NULL(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1JBQ (X-ray 2.60A ) 1M54 (X-ray 2.90A ) 4COO (X-ray 2.00A ) 4L0D (X-ray 2.97A ) 4L27 (X-ray 3.39A ) 4L28 (X-ray 2.63A ) 4L3V (X-ray 3.63A ) 4PCU (X-ray 3.58A ) 4UUU (X-ray 1.71A ) 5MMS (X-ray 2.80A ) |
| DBSNP | rs201827340 rs148865119 rs555959266 rs1191141364 rs17849313 rs786204608 rs863223435 rs786204757 rs786204609 rs34040148 rs778220779 rs121964964 rs760214620 rs775992753 rs770095972 rs770095972 rs781444670 rs886057100 rs374593242 rs1555875351 rs121964965 rs370167302 rs121964966 rs121964963 rs755952006 rs373782713 rs1429138569 rs1347651454 rs121964970 rs762065361 rs1555875010 rs121964973 rs758712880 rs761647392 rs763835246 rs1464223176 rs1555874803 rs773734233 rs758236584 rs149119723 rs121964969 rs5742905 rs141502207 rs760912339 rs779270933 rs121964962 rs781567152 rs777919630 rs777919630 rs398123151 rs760417941 rs771298943 rs121964972 rs267606146 rs1192581453 rs745764562 rs117687681 rs11700812 rs757920190 rs372010465 rs1170128038 rs763036586 rs769080151 rs121964967 rs28934892 rs863223434 rs1555872506 rs756467921 rs28934891 rs121964971 rs1339830457 rs755106884 rs121964968 rs150828989 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:17087506, ECO:0000269|PubMed:23981774}. Nucleus {ECO:0000269|PubMed:17087506}. |
| Mouse PG classification | NA |
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