| Tag | Content |
|---|---|
| Uniprot ID | P35520; B2R993; D3DSK4; Q99425; Q9BWC5; |
| Entrez ID | 875 |
| Genbank protein ID | AAC64683.1; AAH10242.1; EAX09515.1; CAA61252.1; AAH07257.1; BAG36440.1; EAX09509.1; AAH11381.1; AAA98524.1; AAC64684.1; AAH00440.1; EAX09508.1; AAP35818.1; AAA19874.1; EAX09510.1; EAX09511.1; CAA57656.1; |
| Genbank nucleotide ID | XM_017028214.1; XM_011529777.1; NM_001178009.2; XM_011546095.2; XM_017028217.1; XM_017028490.1; NM_001178008.2; XM_011546094.1; XM_011546099.1; XM_017028218.1; XM_017028211.1; NM_000071.2; XM_017028213.1; XM_011529782.1; XM_017028216.1; XM_017028212.1; XM_017028489.1; XM_017028492.1; XM_017028215.1; NM_001320298.1; NM_001321073.1; XM_011546098.1; XM_011546097.2; XM_017028491.1; XM_011529781.1; |
| Ensembl protein ID | ENSP00000381231; ENSP00000352643; ENSP00000344460; ENSP00000381225; |
| Ensembl nucleotide ID | ENSG00000160200 |
| Gene name | Cystathionine beta-synthase |
| Gene symbol | CBS |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | CPO,CL/P |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 21564312; 24437588; 18203168; 16007597; |
| Functional description | Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). |
| Sequence | MPSETPQAEV GPTGCPHRSG PHSAKGSLEK GSPEDKEAKE PLWIRPDAPS RCTWQLGRPA 60 SESPHHHTAP AKSPKILPDI LKKIGDTPMV RINKIGKKFG LKCELLAKCE FFNAGGSVKD 120 RISLRMIEDA ERDGTLKPGD TIIEPTSGNT GIGLALAAAV RGYRCIIVMP EKMSSEKVDV 180 LRALGAEIVR TPTNARFDSP ESHVGVAWRL KNEIPNSHIL DQYRNASNPL AHYDTTADEI 240 LQQCDGKLDM LVASVGTGGT ITGIARKLKE KCPGCRIIGV DPEGSILAEP EELNQTEQTT 300 YEVEGIGYDF IPTVLDRTVV DKWFKSNDEE AFTFARMLIA QEGLLCGGSA GSTVAVAVKA 360 AQELQEGQRC VVILPDSVRN YMTKFLSDRW MLQKGFLKEE DLTEKKPWWW HLRVQELGLS 420 APLTVLPTIT CGHTIEILRE KGFDQAPVVD EAGVILGMVT LGNMLSSLLA GKVQPSDQVG 480 KVIYKQFKQI RLTDTLGRLS HILEMDHFAL VVHEQIQYHS TGKSSQRQMV FGVVTAIDLL 540 NFVAAQERDQ K 551 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.