| URN | urn:agi-llid:875 |
|---|---|
| Connectivity | 106 |
| Name | Cbs |
| Description | cystathionine-beta-synthase |
| Notes | The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq] |
| Pathway | transsulfuration pathway of homocysteine metabolism |
|---|
| GO Molecular Function | catalytic activity |
|---|---|
| lyase activity | |
| enzyme binding | |
| pyridoxal phosphate binding | |
| heme binding | |
| protein homodimerization activity | |
| ubiquitin protein ligase binding | |
| metal ion binding | |
| iron ion binding | |
| cystathionine beta-synthase activity |
| GO Cellular Component | soluble fraction |
|---|---|
| cytoplasm | |
| intracellular membrane-bounded organelle | |
| cytosol | |
| nucleolus | |
| nucleus |
| GO Biological Process | metabolic process |
|---|---|
| endochondral ossification | |
| regulation of JUN kinase activity | |
| hydrogen sulfide biosynthetic process | |
| homocysteine metabolic process | |
| transsulfuration | |
| cysteine biosynthetic process | |
| homocysteine catabolic process | |
| cysteine biosynthetic process via cystathionine | |
| cysteine biosynthetic process from serine | |
| L-cysteine catabolic process | |
| cellular amino acid biosynthetic process | |
| L-serine catabolic process | |
| L-serine metabolic process | |
| response to folic acid | |
| response to nutrient levels |
| Ariadne Ontology | Ser-Gly metabolism |
|---|---|
| Asp-Lys-Thr-Met-Cys metabolsm |
| Group | Ser-Gly metabolism |
|---|---|
| Asp-Lys-Thr-Met-Cys metabolsm | |
| catalytic activity | |
| metabolic process | |
| endochondral ossification | |
| regulation of JUN kinase activity | |
| hydrogen sulfide biosynthetic process | |
| homocysteine metabolic process | |
| transsulfuration | |
| cysteine biosynthetic process | |
| homocysteine catabolic process | |
| cysteine biosynthetic process via cystathionine | |
| cysteine biosynthetic process from serine | |
| L-cysteine catabolic process | |
| cellular amino acid biosynthetic process | |
| L-serine catabolic process | |
| L-serine metabolic process | |
| response to folic acid | |
| response to nutrient levels | |
| lyase activity | |
| enzyme binding | |
| pyridoxal phosphate binding | |
| heme binding | |
| protein homodimerization activity | |
| ubiquitin protein ligase binding | |
| metal ion binding | |
| iron ion binding | |
| cystathionine beta-synthase activity | |
| soluble fraction | |
| cytoplasm | |
| intracellular membrane-bounded organelle | |
| cytosol | |
| nucleolus | |
| nucleus |
| MedScan ID | 875 |
|---|
| Hugo ID | 1550 |
|---|
| Human chromosome position | 21q22.3 |
|---|
| LocusLink ID | 875 |
|---|---|
| 12411 | |
| 24250 |
| Alias | HIP4 |
|---|---|
| cystathionine beta-synthase | |
| beta-thionase | |
| OTTHUMP00000109416 | |
| serine sulfhydrase | |
| methylcysteine synthase | |
| AI047524 | |
| AI303044 | |
| MGC18856 | |
| MGC18895 | |
| MGC37300 | |
| OTTMUSP00000040417 | |
| hemoprotein H-450 | |
| cystathionine-beta-synthase | |
| Cbs | |
| cystathionine beta synthase | |
| cystathionine beta synthetase | |
| methylcysteine synthetase | |
| OTTHUMP00000109418 | |
| serine sulfhydrylase | |
| serine sulfhydrylases |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 613381 |
|---|---|
| 236200 |
| Mouse chromosome position | 17 17.4 cM |
|---|
| GO ID | 0004122 |
|---|---|
| 0019899 | |
| 0020037 | |
| 0016829 | |
| 0046872 | |
| 0042803 | |
| 0030170 | |
| 0031625 | |
| 0019448 | |
| 0006565 | |
| 0006563 | |
| 0008652 | |
| 0006535 | |
| 0019343 | |
| 0043418 | |
| 0050667 | |
| 0070814 | |
| 0008152 | |
| 0005737 | |
| 0005829 | |
| 0043231 | |
| 0005730 | |
| 0005634 | |
| 0003824 | |
| 0019344 | |
| 0001958 | |
| 0043506 | |
| 0051593 | |
| 0019346 | |
| 0005625 | |
| 0031667 | |
| 0005506 |
| Rat chromosome position | 20p12 |
|---|
| Swiss-Prot Accession | P35520 |
|---|---|
| Q9NTF0 | |
| Q3LR94 | |
| Q96EH7 | |
| Q91WT9 | |
| P32232 | |
| B2R993 | |
| Q99425 | |
| Q9BWC5 | |
| Q91WU3 | |
| D3DSK4 |
| PIR ID | A55760 |
|---|---|
| A42790 | |
| C42790 |
| Unigene ID | Hs.533013 |
|---|---|
| Mm.206417 | |
| Rn.87853 |
| KEGG ID | hsa:875 |
|---|---|
| mmu:12411 | |
| rno:24250 |
| EC Number | 4.2.1.22 |
|---|
| Swiss-Prot ID | CBS_HUMAN |
|---|---|
| CBS_MOUSE | |
| CBS_RAT | |
| Q9NTF0_HUMAN | |
| D3DSK4_HUMAN | |
| B2R993_HUMAN |
| Cell Localization | Cytoplasm |
|---|---|
| Nucleus |
| IPI ID | IPI00219352 |
|---|---|
| IPI00219649 | |
| IPI00128378 | |
| IPI00269811 | |
| IPI00214299 | |
| IPI00231548 | |
| IPI00231549 | |
| IPI00794609 | |
| IPI00792672 | |
| IPI00795559 | |
| IPI00885709 | |
| IPI00886341 | |
| IPI00886405 |
| Homologene ID | 37258 |
|---|
| RGD ID | 2287 |
|---|
| MGI ID | 88285 |
|---|