| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 875 |
Name | CBS |
Synonym | HIP4;cystathionine-beta-synthase;CBS;cystathionine-beta-synthase |
Definition | beta-thionase|cystathionine beta-synthase|methylcysteine synthase|serine sulfhydrase |
Position | 21q22.3 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 875 |
Links to all GeneRIF Items | 875 |
Links to iHOP | 875 |
Sequence Information | |
Nucleotide Sequence | >875 : length: 3038 GTCTGGATCTCCCACCTGGAAACCTAGAGGAGTTTCCCGCTCTCCGTGCGCGTGGCCTTC CCCAGGCCCCTCCGGGAGTGCTGGCGCGCGAGTGCAGGGGTGCCCCGGGAACGTCGTGAC CCCAAGGGGGTCTTGTGGTTTAAGGAGCGAACGGAACCGGCCAGGCGATGCCAGCTGAAC CCGCCTTCCCGGGACGCACGTGCATCCGGCCGCCCGGCGCTGTTGTCTTGGGGAGCCCGC GGGTTCGGGTCTGGGTCGCCTGGCGAGCTTTCCGCCGAGCGCCTCTGAGTTCTACAGAGC CCCGACGGCTTGCGATCTGCGTTCCCGGCAGTCCCTTACCTTGCGAGAGAGGGCTCCAGG GCGAGGCGAGGGGCCAAAAGCAAGGCGCTGGGCCGCCTGCGTCTGCCGGGGCCTCGGGTC CACGGCTTTCTGGAAGATTCGGCGGCGGAGCATGCGCGCCCCAGGCCAGACAGGGCCTGT GCCAGACGGAGAGTCCCTTCCCGTAGGTGACTCCCGCGACCCGCGGAGGAAGGTGCTGCT CCGCTCACGGCGGCGGCTTCTTACAAGGATCCCATGACAGATTCTGTTGTCACGTCTCCT TACAGAGTTTGAGCGGTGCTGAACTGTCAGCACCATCTGTCCGGTCCCAGCATGCCTTCT GAGACCCCCCAGGCAGAAGTGGGGCCCACAGGCTGCCCCCACCGCTCAGGGCCACACTCG GCGAAGGGGAGCCTGGAGAAGGGGTCCCCAGAGGATAAGGAAGCCAAGGAGCCCCTGTGG ATCCGGCCCGATGCTCCGAGCAGGTGCACCTGGCAGCTGGGCCGGCCTGCCTCCGAGTCC CCACATCACCACACTGCCCCGGCAAAATCTCCAAAAATCTTGCCAGATATTCTGAAGAAA ATCGGGGACACCCCTATGGTCAGAATCAACAAGATTGGGAAGAAGTTCGGCCTGAAGTGT GAGCTCTTGGCCAAGTGTGAGTTCTTCAACGCGGGCGGGAGCGTGAAGGACCGCATCAGC CTGCGGATGATTGAGGATGCTGAGCGCGACGGGACGCTGAAGCCCGGGGACACGATTATC GAGCCGACATCCGGGAACACCGGGATCGGGCTGGCCCTGGCTGCGGCAGTGAGGGGCTAT CGCTGCATCATCGTGATGCCAGAGAAGATGAGCTCCGAGAAGGTGGACGTGCTGCGGGCA CTGGGGGCTGAGATTGTGAGGACGCCCACCAATGCCAGGTTCGACTCCCCGGAGTCACAC GTGGGGGTGGCCTGGCGGCTGAAGAACGAAATCCCCAATTCTCACATCCTAGACCAGTAC CGCAACGCCAGCAACCCCCTGGCTCACTACGACACCACCGCTGATGAGATCCTGCAGCAG TGTGATGGGAAGCTGGACATGCTGGTGGCTTCAGTGGGCACGGGCGGCACCATCACGGGC ATTGCCAGGAAGCTGAAGGAGAAGTGTCCTGGATGCAGGATCATTGGGGTGGATCCCGAA GGGTCCATCCTCGCAGAGCCGGAGGAGCTGAACCAGACGGAGCAGACAACCTACGAGGTG GAAGGGATCGGCTACGACTTCATCCCCACGGTGCTGGACAGGACGGTGGTGGACAAGTGG TTCAAGAGCAACGATGAGGAGGCGTTCACCTTTGCCCGCATGCTGATCGCGCAAGAGGGG CTGCTGTGCGGTGGCAGTGCTGGCAGCACGGTGGCGGTGGCCGTGAAGGCCGCGCAGGAG CTGCAGGAGGGCCAGCGCTGCGTGGTCATTCTGCCCGACTCAGTGCGGAACTACATGACC AAGTTCCTGAGCGACAGGTGGATGCTGCAGAAGGGCTTTCTGAAGGAGGAGGACCTCACG GAGAAGAAGCCCTGGTGGTGGCACCTCCGTGTTCAGGAGCTGGGCCTGTCAGCCCCGCTG ACCGTGCTCCCGACCATCACCTGTGGGCACACCATCGAGATCCTCCGGGAGAAGGGCTTC GACCAGGCGCCCGTGGTGGATGAGGCGGGGGTAATCCTGGGAATGGTGACGCTTGGGAAC ATGCTCTCGTCCCTGCTTGCCGGGAAGGTGCAGCCGTCAGACCAAGTTGGCAAAGTCATC TACAAGCAGTTCAAACAGATCCGCCTCACGGACACGCTGGGCAGGCTCTCGCACATCCTG GAGATGGACCACTTCGCCCTGGTGGTGCACGAGCAGATCCAGTCGCAGGACCAGGCCTGG GCAGGCGTGGTGGGGGGGCCTGCAGACCACAGCACCGGGAAGTCCAGTCAGCGGCAGATG GTGTTCGGGGTGGTCACCGCCATTGACTTGCTGAACTTCGTGGCCGCCCAGGAGCGGGAC CAGAAGTGAAGTCCGGAGCGCTGGGCGGTGCGGAGCGGGCCCGCCACCCTTGCCCACTTC TCCTTCGCTTTCCTGAGCCCTAAACACACGCGTGATTGGTAACTGCCTGGCCTGGCACCG TTATCCCTGCACACGGCACAGAGCATCCGTCTCCCCTCGTTAACACATGGCTTCCTAAAT GGCCCTGTTTACGGCCTATGAGATGAAATATGTGATTTTCTCTAATGTAACTTCCTCTTA GGATGTTTCACCAAGGAAATATTGAGAGAGAAGTCGGCCAGGTAGGATGAACACAGGCAA TGACTGCGCAGAGTGGATTAAAGGCAAAAGAGAGAAGAGTCCAGGAAGGGGCGGGGAGAA GCCTGGGTGGCTCAGCATCCTCCACGGGCTGCGCCGTCTGCTCGGGGCTGAGCTGGCGGG AGCAGTTTGCGTGTTTGGGTTTTTTAATTGAGATGAAATTCAAATAACCTAAAAATCAAT CACTTGAAAGTGAACAATCAGCGGCATTTAGTACATCCAGAAAGTTGTGTAGGCACCACC TCTGTCACGTTCTGGAACATTCTGTCATCACCCCGTGAAGCAATCATTTCCCCTCCCGTC TTCCTCCTCCCCTGGCAACTGCTGATCGACTTTGTGTCTCTGTTGTCTAAAATAGGTTTT CCCTGTTCTGGACATTTCATATAAATGGAATCACACAA |
Protein Sequence | >875 : length: 582 MRQRMGIWRVCGWPRPGCAGGHLRCGLRPPGKGISLQDAVSRLKNVEGIPKGRSSPRAQS PGRPQHRHRESCGCRGLGDKAGTEFRISDDQGQSCSAPCRTGRMGCRGRSSDRLVPRCRC RGVAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGY RCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQY RNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPE GSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEG LLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEEDLT EKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGN MLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQSQDQAW AGVVGGPADHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK |