| Gene ID | 875 |
| Symbol | CBS |
| Synonymous | HIP4 |
| Full name | cystathionine-beta-synthase |
| Gene description | beta-thionase|cystathionine beta-synthase|methylcysteine synthase|serine sulfhydrase |
| Cytoband | 21q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:613381; HGNC:HGNC:1550; Ensembl:ENSG00000160200; HPRD:01994; Vega:OTTHUMG00000086834 |
Pathways and Diseases | Detail |
|---|---|
Pathway | cysteine biosynthesis/homocysteine degradation;BioCyc;HOMOCYSDEGR-PWY |
Pathway | Selenoamino acid metabolism;KEGG PATHWAY;hsa00450 |
Pathway | Glycine, serine and threonine metabolism;KEGG PATHWAY;hsa00260 |
Pathway | cysteine biosynthesis III (mammalia);BioCyc;PWY-6292 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Cysteine biosynthesis;PANTHER;P02737 |
Pathway | Cysteine and methionine metabolism;KEGG PATHWAY;hsa00270 |
Pathway | superpathway of methionine degradation;BioCyc;PWY-5328 |
Disease | Homocystinuria, B6-responsive and nonresponsive types;OMIM |
Disease | mild homocystinuria;GAD |
Disease | Encephalopathies;FunDO |
Disease | cervical artery dissection, spontaneous;GAD |
Disease | Meningioma;FunDO |
Disease | Lung cancer;FunDO |
Disease | reduced CBS activity and elevated post-load homocysteine levels;GAD |
Disease | Thrombosis, hyperhomocysteinemic;OMIM |
Disease | Down syndrome;FunDO |
Disease | cystathionine beta-synthase deficiency;GAD |
Disease | Embryoma;FunDO |
Disease | hyperhomocystinemia;GAD |
Disease | atherosclerosis, coronary;GAD |
Disease | METABOLIC;GAD |
Disease | cerebral venous thrombosis;GAD |
Disease | Coronary Artery Disease;GAD |
Disease | Stroke;FunDO |
Disease | Alzheimer's disease;FunDO |
Disease | PSYCH;GAD |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Homocystinuria;KEGG DISEASE;H00183 |
Disease | CARDIOVASCULAR;GAD |
Disease | homocysteine;GAD |
Disease | CANCER;GAD |
Disease | plasma levels of homocysteine;GAD |
Disease | plasma homocysteine;GAD |
Disease | Hyperhomocysteinemia;FunDO |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | breast cancer;GAD |
Disease | schizophrenia;GAD |
Disease | Plasma homocysteine;NHGRI |
Disease | Atherosclerosis;GAD |
Disease | Atherosclerosis;FunDO |
Sequence Information | |
|---|---|
Nucleotide Sequence | >875 : length: 3038 GTCTGGATCTCCCACCTGGAAACCTAGAGGAGTTTCCCGCTCTCCGTGCGCGTGGCCTTCCCCAGGCCCCTCCGGGAGTGCTGGCGCGCGAGTGCAGGGGTGCCCCGGGAACGTCGTGAC CCCAAGGGGGTCTTGTGGTTTAAGGAGCGAACGGAACCGGCCAGGCGATGCCAGCTGAACCCGCCTTCCCGGGACGCACGTGCATCCGGCCGCCCGGCGCTGTTGTCTTGGGGAGCCCGC GGGTTCGGGTCTGGGTCGCCTGGCGAGCTTTCCGCCGAGCGCCTCTGAGTTCTACAGAGCCCCGACGGCTTGCGATCTGCGTTCCCGGCAGTCCCTTACCTTGCGAGAGAGGGCTCCAGG GCGAGGCGAGGGGCCAAAAGCAAGGCGCTGGGCCGCCTGCGTCTGCCGGGGCCTCGGGTCCACGGCTTTCTGGAAGATTCGGCGGCGGAGCATGCGCGCCCCAGGCCAGACAGGGCCTGT GCCAGACGGAGAGTCCCTTCCCGTAGGTGACTCCCGCGACCCGCGGAGGAAGGTGCTGCTCCGCTCACGGCGGCGGCTTCTTACAAGGATCCCATGACAGATTCTGTTGTCACGTCTCCT TACAGAGTTTGAGCGGTGCTGAACTGTCAGCACCATCTGTCCGGTCCCAGCATGCCTTCTGAGACCCCCCAGGCAGAAGTGGGGCCCACAGGCTGCCCCCACCGCTCAGGGCCACACTCG GCGAAGGGGAGCCTGGAGAAGGGGTCCCCAGAGGATAAGGAAGCCAAGGAGCCCCTGTGGATCCGGCCCGATGCTCCGAGCAGGTGCACCTGGCAGCTGGGCCGGCCTGCCTCCGAGTCC CCACATCACCACACTGCCCCGGCAAAATCTCCAAAAATCTTGCCAGATATTCTGAAGAAAATCGGGGACACCCCTATGGTCAGAATCAACAAGATTGGGAAGAAGTTCGGCCTGAAGTGT GAGCTCTTGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGAAGGACCGCATCAGCCTGCGGATGATTGAGGATGCTGAGCGCGACGGGACGCTGAAGCCCGGGGACACGATTATC GAGCCGACATCCGGGAACACCGGGATCGGGCTGGCCCTGGCTGCGGCAGTGAGGGGCTATCGCTGCATCATCGTGATGCCAGAGAAGATGAGCTCCGAGAAGGTGGACGTGCTGCGGGCA CTGGGGGCTGAGATTGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCGGAGTCACACGTGGGGGTGGCCTGGCGGCTGAAGAACGAAATCCCCAATTCTCACATCCTAGACCAGTAC CGCAACGCCAGCAACCCCCTGGCTCACTACGACACCACCGCTGATGAGATCCTGCAGCAGTGTGATGGGAAGCTGGACATGCTGGTGGCTTCAGTGGGCACGGGCGGCACCATCACGGGC ATTGCCAGGAAGCTGAAGGAGAAGTGTCCTGGATGCAGGATCATTGGGGTGGATCCCGAAGGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTG GAAGGGATCGGCTACGACTTCATCCCCACGGTGCTGGACAGGACGGTGGTGGACAAGTGGTTCAAGAGCAACGATGAGGAGGCGTTCACCTTTGCCCGCATGCTGATCGCGCAAGAGGGG CTGCTGTGCGGTGGCAGTGCTGGCAGCACGGTGGCGGTGGCCGTGAAGGCCGCGCAGGAGCTGCAGGAGGGCCAGCGCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAACTACATGACC AAGTTCCTGAGCGACAGGTGGATGCTGCAGAAGGGCTTTCTGAAGGAGGAGGACCTCACGGAGAAGAAGCCCTGGTGGTGGCACCTCCGTGTTCAGGAGCTGGGCCTGTCAGCCCCGCTG ACCGTGCTCCCGACCATCACCTGTGGGCACACCATCGAGATCCTCCGGGAGAAGGGCTTCGACCAGGCGCCCGTGGTGGATGAGGCGGGGGTAATCCTGGGAATGGTGACGCTTGGGAAC ATGCTCTCGTCCCTGCTTGCCGGGAAGGTGCAGCCGTCAGACCAAGTTGGCAAAGTCATCTACAAGCAGTTCAAACAGATCCGCCTCACGGACACGCTGGGCAGGCTCTCGCACATCCTG GAGATGGACCACTTCGCCCTGGTGGTGCACGAGCAGATCCAGTCGCAGGACCAGGCCTGGGCAGGCGTGGTGGGGGGGCCTGCAGACCACAGCACCGGGAAGTCCAGTCAGCGGCAGATG GTGTTCGGGGTGGTCACCGCCATTGACTTGCTGAACTTCGTGGCCGCCCAGGAGCGGGACCAGAAGTGAAGTCCGGAGCGCTGGGCGGTGCGGAGCGGGCCCGCCACCCTTGCCCACTTC TCCTTCGCTTTCCTGAGCCCTAAACACACGCGTGATTGGTAACTGCCTGGCCTGGCACCGTTATCCCTGCACACGGCACAGAGCATCCGTCTCCCCTCGTTAACACATGGCTTCCTAAAT GGCCCTGTTTACGGCCTATGAGATGAAATATGTGATTTTCTCTAATGTAACTTCCTCTTAGGATGTTTCACCAAGGAAATATTGAGAGAGAAGTCGGCCAGGTAGGATGAACACAGGCAA TGACTGCGCAGAGTGGATTAAAGGCAAAAGAGAGAAGAGTCCAGGAAGGGGCGGGGAGAAGCCTGGGTGGCTCAGCATCCTCCACGGGCTGCGCCGTCTGCTCGGGGCTGAGCTGGCGGG AGCAGTTTGCGTGTTTGGGTTTTTTAATTGAGATGAAATTCAAATAACCTAAAAATCAATCACTTGAAAGTGAACAATCAGCGGCATTTAGTACATCCAGAAAGTTGTGTAGGCACCACC TCTGTCACGTTCTGGAACATTCTGTCATCACCCCGTGAAGCAATCATTTCCCCTCCCGTCTTCCTCCTCCCCTGGCAACTGCTGATCGACTTTGTGTCTCTGTTGTCTAAAATAGGTTTT CCCTGTTCTGGACATTTCATATAAATGGAATCACACAA |
Protein Sequence | >875 : length: 582 MRQRMGIWRVCGWPRPGCAGGHLRCGLRPPGKGISLQDAVSRLKNVEGIPKGRSSPRAQSPGRPQHRHRESCGCRGLGDKAGTEFRISDDQGQSCSAPCRTGRMGCRGRSSDRLVPRCRC RGVAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQY RNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEG LLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGN MLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQSQDQAWAGVVGGPADHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK |