P35520
uniprot
P35520
canonical
activity_regulation
ACTIVITY REGULATION: Allosterically activated by S-adenosyl-methionine/AdoMet. Activated by S-adenosylhomocysteine/AdoHcy (PubMed:20506325). Binds non-covalently to a heme group that may control the redox sensitivity of the enzyme (PubMed:11483494, PubMed:12173932, PubMed:22738154). {ECO:0000269|PubMed:11483494, ECO:0000269|PubMed:12173932, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:22738154, ECO:0000269|PubMed:23974653}.
uniprot
proteins
amino_acid_sequence
MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWIRPDAPSRCTWQLGRPASESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLKCELLAKCEFFNAGGSVKDRISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGYRCIIVMPEKMSSEKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQYRNASNPLAHYDTTADEILQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTTYEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVAVKAAQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEEDLTEKKPWWWHLRVQELGLSAPLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKVQPSDQVGKVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLLNFVAAQERDQK
uniprot
proteins
disease_involvement
DISEASE: Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, intellectual disability, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. {ECO:0000269|PubMed:10215408, ECO:0000269|PubMed:10338090, ECO:0000269|PubMed:10408774, ECO:0000269|PubMed:10462600, ECO:0000269|PubMed:11013450, ECO:0000269|PubMed:11359213, ECO:0000269|PubMed:11553052, ECO:0000269|PubMed:12007221, ECO:0000269|PubMed:12124992, ECO:0000269|PubMed:12815602, ECO:0000269|PubMed:1301198, ECO:0000269|PubMed:14635102, ECO:0000269|PubMed:15146473, ECO:0000269|PubMed:15365998, ECO:0000269|PubMed:15993874, ECO:0000269|PubMed:16205833, ECO:0000269|PubMed:16429402, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:21240075, ECO:0000269|PubMed:21520339, ECO:0000269|PubMed:22738154, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774, ECO:0000269|PubMed:25044645, ECO:0000269|PubMed:7506602, ECO:0000269|PubMed:7564249, ECO:0000269|PubMed:7611293, ECO:0000269|PubMed:7635485, ECO:0000269|PubMed:7762555, ECO:0000269|PubMed:7849717, ECO:0000269|PubMed:7967489, ECO:0000269|PubMed:7981678, ECO:0000269|PubMed:8353501, ECO:0000269|PubMed:8528202, ECO:0000269|PubMed:8755636, ECO:0000269|PubMed:8803779, ECO:0000269|PubMed:8990018, ECO:0000269|PubMed:9156316, ECO:0000269|PubMed:9266356, ECO:0000269|PubMed:9361025, ECO:0000269|PubMed:9889017}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.22
uniprot
proteins
function
FUNCTION: 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:20506325, PubMed:23974653, PubMed:23981774). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity). {ECO:0000250|UniProtKB:P32232, ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774}.
uniprot
proteins
mass_dalton
60587
uniprot
proteins
mutagenesis
MUTAGEN 272; /note="C->A: Reduced heme content and cystathionine beta-synthase activity."; /evidence="ECO:0000269|PubMed:12173932"; MUTAGEN 275; /note="C->S: Reduced heme content and cystathionine beta-synthase activity."; /evidence="ECO:0000269|PubMed:12173932
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2. {ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774}.
uniprot
proteins
protein_family
Cysteine synthase/cystathionine beta-synthase family
uniprot
proteins
pubmed
10215408
uniprot
proteins
pubmed
10338090
uniprot
proteins
pubmed
10408774
uniprot
proteins
pubmed
10462600
uniprot
proteins
pubmed
10830953
uniprot
proteins
pubmed
11013450
uniprot
proteins
pubmed
11359213
uniprot
proteins
pubmed
11483494
uniprot
proteins
pubmed
11553052
uniprot
proteins
pubmed
12007221
uniprot
proteins
pubmed
12124992
uniprot
proteins
pubmed
12173932
uniprot
proteins
pubmed
12815602
uniprot
proteins
pubmed
1301198
uniprot
proteins
pubmed
14635102
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15146473
uniprot
proteins
pubmed
15365998
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15993874
uniprot
proteins
pubmed
16205833
uniprot
proteins
pubmed
16429402
uniprot
proteins
pubmed
17087506
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20506325
uniprot
proteins
pubmed
21240075
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21520339
uniprot
proteins
pubmed
22738154
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23974653
uniprot
proteins
pubmed
23981774
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25044645
uniprot
proteins
pubmed
681363
uniprot
proteins
pubmed
7506602
uniprot
proteins
pubmed
7564249
uniprot
proteins
pubmed
7598711
uniprot
proteins
pubmed
7611293
uniprot
proteins
pubmed
7635485
uniprot
proteins
pubmed
7762555
uniprot
proteins
pubmed
7849717
uniprot
proteins
pubmed
7903580
uniprot
proteins
pubmed
7967489
uniprot
proteins
pubmed
7981678
uniprot
proteins
pubmed
8022826
uniprot
proteins
pubmed
8353501
uniprot
proteins
pubmed
8528202
uniprot
proteins
pubmed
8755636
uniprot
proteins
pubmed
8803779
uniprot
proteins
pubmed
8990018
uniprot
proteins
pubmed
9156316
uniprot
proteins
pubmed
9266356
uniprot
proteins
pubmed
9361025
uniprot
proteins
pubmed
9383285
uniprot
proteins
pubmed
9790750
uniprot
proteins
pubmed
9889017
uniprot
proteins
sequence_length
551
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17087506, ECO:0000269|PubMed:23981774}. Nucleus {ECO:0000269|PubMed:17087506}.
uniprot
proteins