KEGG   Homo sapiens (human): 875
Entry
875               CDS       T01001                                 
Symbol
CBS, CBSL, HIP4
Name
(RefSeq) cystathionine beta-synthase
  KO
K01697  cystathionine beta-synthase [EC:4.2.1.22]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00260  Glycine, serine and threonine metabolism
hsa00270  Cysteine and methionine metabolism
hsa01100  Metabolic pathways
hsa01230  Biosynthesis of amino acids
Module
hsa_M00035  Methionine degradation
hsa_M00338  Cysteine biosynthesis, homocysteine + serine => cysteine
Network
nt06030  Methionine metabolism
  Element
N01628  Cysteine biosynthesis
Disease
H00183  Homocystinuria
Drug target
Pegtibatinase: D12197
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00260 Glycine, serine and threonine metabolism
    875 (CBS)
   00270 Cysteine and methionine metabolism
    875 (CBS)
Enzymes [BR:hsa01000]
 4. Lyases
  4.2  Carbon-oxygen lyases
   4.2.1  Hydro-lyases
    4.2.1.22  cystathionine beta-synthase
     875 (CBS)
SSDB
Motif
Pfam: PALP CBS DUF5380
Other DBs
NCBI-GeneID: 875
NCBI-ProteinID: NP_000062
OMIM: 613381
HGNC: 1550
Ensembl: ENSG00000160200
UniProt: P35520 Q9NTF0
Structure
Position
21:complement(43053191..43076873)
AA seq 551 aa
MPSETPQAEVGPTGCPHRSGPHSAKGSLEKGSPEDKEAKEPLWIRPDAPSRCTWQLGRPA
SESPHHHTAPAKSPKILPDILKKIGDTPMVRINKIGKKFGLKCELLAKCEFFNAGGSVKD
RISLRMIEDAERDGTLKPGDTIIEPTSGNTGIGLALAAAVRGYRCIIVMPEKMSSEKVDV
LRALGAEIVRTPTNARFDSPESHVGVAWRLKNEIPNSHILDQYRNASNPLAHYDTTADEI
LQQCDGKLDMLVASVGTGGTITGIARKLKEKCPGCRIIGVDPEGSILAEPEELNQTEQTT
YEVEGIGYDFIPTVLDRTVVDKWFKSNDEEAFTFARMLIAQEGLLCGGSAGSTVAVAVKA
AQELQEGQRCVVILPDSVRNYMTKFLSDRWMLQKGFLKEEDLTEKKPWWWHLRVQELGLS
APLTVLPTITCGHTIEILREKGFDQAPVVDEAGVILGMVTLGNMLSSLLAGKVQPSDQVG
KVIYKQFKQIRLTDTLGRLSHILEMDHFALVVHEQIQYHSTGKSSQRQMVFGVVTAIDLL
NFVAAQERDQK
NT seq 1656 nt   +upstreamnt  +downstreamnt
atgccttctgagaccccccaggcagaagtggggcccacaggctgcccccaccgctcaggg
ccacactcggcgaaggggagcctggagaaggggtccccagaggataaggaagccaaggag
cccctgtggatccggcccgatgctccgagcaggtgcacctggcagctgggccggcctgcc
tccgagtccccacatcaccacactgccccggcaaaatctccaaaaatcttgccagatatt
ctgaagaaaatcggggacacccctatggtcagaatcaacaagattgggaagaagttcggc
ctgaagtgtgagctcttggccaagtgtgagttcttcaacgcgggcgggagcgtgaaggac
cgcatcagcctgcggatgattgaggatgctgagcgcgacgggacgctgaagcccggggac
acgattatcgagccgacatccgggaacaccgggatcgggctggccctggctgcggcagtg
aggggctatcgctgcatcatcgtgatgccagagaagatgagctccgagaaggtggacgtg
ctgcgggcactgggggctgagattgtgaggacgcccaccaatgccaggttcgactccccg
gagtcacacgtgggggtggcctggcggctgaagaacgaaatccccaattctcacatccta
gaccagtaccgcaacgccagcaaccccctggctcactacgacaccaccgctgatgagatc
ctgcagcagtgtgatgggaagctggacatgctggtggcttcagtgggcacgggcggcacc
atcacgggcattgccaggaagctgaaggagaagtgtcctggatgcaggatcattggggtg
gatcccgaagggtccatcctcgcagagccggaggagctgaaccagacggagcagacaacc
tacgaggtggaagggatcggctacgacttcatccccacggtgctggacaggacggtggtg
gacaagtggttcaagagcaacgatgaggaggcgttcacctttgcccgcatgctgatcgcg
caagaggggctgctgtgcggtggcagtgctggcagcacggtggcggtggccgtgaaggcc
gcgcaggagctgcaggagggccagcgctgcgtggtcattctgcccgactcagtgcggaac
tacatgaccaagttcctgagcgacaggtggatgctgcagaagggctttctgaaggaggag
gacctcacggagaagaagccctggtggtggcacctccgtgttcaggagctgggcctgtca
gccccgctgaccgtgctcccgaccatcacctgtgggcacaccatcgagatcctccgggag
aagggcttcgaccaggcgcccgtggtggatgaggcgggggtaatcctgggaatggtgacg
cttgggaacatgctctcgtccctgcttgccgggaaggtgcagccgtcagaccaagttggc
aaagtcatctacaagcagttcaaacagatccgcctcacggacacgctgggcaggctctcg
cacatcctggagatggaccacttcgccctggtggtgcacgagcagatccagtaccacagc
accgggaagtccagtcagcggcagatggtgttcggggtggtcaccgccattgacttgctg
aacttcgtggccgcccaggagcgggaccagaagtga

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