Official symbol | CBS |
Gene id | 875 |
Organism | Homo sapiens |
Official full symbol | cystathionine beta-synthase |
Gene type | protein-coding |
Also known as | CBSL, HIP4 |
Summary | 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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. |
Genomic regions | Chromosome 21 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
CBS-201 | ENST00000352178.9 | 2583 | 551aa | Protein coding | CCDS13693 | P35520-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
CBS-204 | ENST00000398165.8 | 2495 | 551aa | Protein coding | CCDS13693 | P35520-1 | NM_000071.3 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
CBS-203 | ENST00000398158.5 | 2453 | 551aa | Protein coding | CCDS13693 | P35520-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
CBS-202 | ENST00000359624.7 | 2353 | 551aa | Protein coding | CCDS13693 | P35520-1 | - | TSL:1, GENCODE basic, APPRIS P1, |
CBS-205 | ENST00000430013.1 | 828 | 224aa | Protein coding | - | H7C2H4 | - | CDS 5' incomplete, TSL:5, |
CBS-206 | ENST00000441030.5 | 819 | 177aa | Protein coding | - | C9JMA6 | - | CDS 3' incomplete, TSL:5, |
CBS-208 | ENST00000458223.5 | 676 | 159aa | Protein coding | - | H7C2W0 | - | CDS 5' incomplete, TSL:3, |
CBS-207 | ENST00000451248.5 | 573 | 149aa | Protein coding | - | H7C1W6 | - | CDS 5' incomplete, TSL:5, |
CBS-212 | ENST00000470912.5 | 894 | No protein | Processed transcript | - | - | - | TSL:3, |
CBS-213 | ENST00000478709.1 | 727 | No protein | Processed transcript | - | - | - | TSL:3, |
CBS-211 | ENST00000465732.5 | 683 | No protein | Processed transcript | - | - | - | TSL:2, |
CBS-215 | ENST00000488526.1 | 672 | No protein | Processed transcript | - | - | - | TSL:2, |
CBS-209 | ENST00000461686.5 | 2656 | No protein | Retained intron | - | - | - | TSL:1, |
CBS-216 | ENST00000491776.1 | 1515 | No protein | Retained intron | - | - | - | TSL:3, |
CBS-210 | ENST00000462349.5 | 1038 | No protein | Retained intron | - | - | - | TSL:2, |
CBS-214 | ENST00000486098.1 | 773 | No protein | Retained intron | - | - | - | TSL:2, |
CBS-217 | ENST00000496485.1 | 673 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | CBS |
This KO Strategy | loading |
Red Cotton™ Notes | Gene CBS had been KO in hela cell line. |
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