Sequence of CBS_HUMAN
EC Number:4.2.1.22
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
L-serine + L-homocysteine = L-cystathionine + H2O
Other sequences found for EC No. 4.2.1.22
General information:
Sequence
0 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
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1166002
Kraus J.P.,Le K.,Swaroop M.,Ohura T.,Tahara T.,Rosenberg L.E.,Roper M.D.,Kozich V.
Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells.
Hum. Mol. Genet.
2
1633-1638
1993
1166003
Chasse J.-F.,Paly E.,Paris D.,Paul V.,Sinet P.-M.,Kamoun P.,London J.
Genomic organization of the human cystathionine beta-synthase gene: evidence for various cDNAs.
Biochem. Biophys. Res. Commun.
211
826-832
1995
1166004
Kruger W.D.,Cox D.R.
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.
Proc. Natl. Acad. Sci. U.S.A.
91
6614-6618
1994
1166005
Chasse J.-F.,Paul V.,Escanez R.,Kamoun P.,London J.
Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.
Mamm. Genome
8
917-921
1997
1166006
Kraus J.P.,Oliveriusova J.,Sokolova J.,Kraus E.,Vlcek C.,de Franchis R.,Maclean K.N.,Bao L.,Bukovska G.,Patterson D.,Paces V.,Ansorge W.,Kozich V.
The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.
Genomics
52
312-324
1998
1166008
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
40-45
2004
1166009
Hattori M.,Fujiyama A.,Taylor T.D.,Watanabe H.,Yada T.,Park H.-S.,Toyoda A.,Ishii K.,Totoki Y.,Choi D.-K.,Groner Y.,Soeda E.,Ohki M.,Takagi T.,Sakaki Y.,Taudien S.,Blechschmidt K.,Polley A.,Menzel U.,Delabar J.,Kumpf K.,Lehmann R.,Patterson D.,Reichwald K.,Rump A.,Schillhabel M.,Schudy A.,Zimmermann W.,Rosenthal A.,Kudoh J.,Shibuya K.,Kawasaki K.,Asakawa S.,Shintani A.,Sasaki T.,Nagamine K.,Mitsuyama S.,Antonarakis S.E.,Minoshima S.,Shimizu N.,Nordsiek G.,Hornischer K.,Brandt P.,Scharfe M.,Schoen O.,Desario A.,Reichelt J.,Kauer G.,Bloecker H.,Ramser J.,Beck A.,Klages S.,Hennig S.,Riesselmann L.,Dagand E.,Wehrmeyer S.,Borzym K.,Gardiner K.,Nizetic D.,Francis F.,Lehrach H.,Reinhardt R.,Yaspo M.-L.
The DNA sequence of human chromosome 21.
Nature
405
311-319
2000
1166011
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
1166012
Kraus J.P.,Packman S.,Fowler B.,Rosenberg L.E.
Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits.
J. Biol. Chem.
253
6523-6528
1978
1166013
Kabil O.,Zhou Y.,Banerjee R.
Human cystathionine beta-synthase is a target for sumoylation.
Biochemistry
45
13528-13536
2006
1166014
Gauci S.,Helbig A.O.,Slijper M.,Krijgsveld J.,Heck A.J.,Mohammed S.
Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Anal. Chem.
81
4493-4501
2009
1166015
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
1166016
Rigbolt K.T.,Prokhorova T.A.,Akimov V.,Henningsen J.,Johansen P.T.,Kratchmarova I.,Kassem M.,Mann M.,Olsen J.V.,Blagoev B.
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Sci. Signal.
4
0-0
2011
1166017
Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.
Toward a comprehensive characterization of a human cancer cell phosphoproteome.
J. Proteome Res.
12
260-271
2013
1166018
Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.
An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
J. Proteomics
96
253-262
2014
1166019
Kozich V.,Sokolova J.,Klatovska V.,Krijt J.,Janosik M.,Jelinek K.,Kraus J.P.
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Hum. Mutat.
31
809-819
2010
1166020
Meier M.,Janosik M.,Kery V.,Kraus J.P.,Burkhard P.
Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein.
EMBO J.
20
3910-3916
2001
1166021
Taoka S.,Lepore B.W.,Kabil O.,Ojha S.,Ringe D.,Banerjee R.
Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme.
Biochemistry
41
10454-10461
2002
1166022
Kraus J.P.,Janosik M.,Kozich V.,Mandell R.,Shih V.E.,Sperandeo M.P.,Sebastio G.,de Franchis R.,Andria G.,Kluijtmans L.A.J.,Blom H.J.,Boers G.H.J.,Gordon R.B.,Kamoun P.,Tsai M.Y.,Kruger W.D.,Koch H.G.,Ohura T.,Gaustadnes M.
Cystathionine beta-synthase mutations in homocystinuria.
Hum. Mutat.
13
362-375
1999
1166023
Kozich V.,Kraus J.P.
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.
Hum. Mutat.
1
113-123
1992
1166024
Kozich V.,de Franchis R.,Kraus J.P.
Molecular defect in a patient with pyridoxine-responsive homocystinuria.
Hum. Mol. Genet.
2
815-816
1993
1166025
Hu F.L.,Gu Z.,Kozich V.,Kraus J.P.,Ramesh V.,Shih V.E.
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
Hum. Mol. Genet.
2
1857-1860
1993
1166026
de Franchis R.,Kozich V.,McInnes R.,Kraus J.P.
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
Hum. Mol. Genet.
3
1103-1108
1994
1166027
Marble M.,Geraghty M.T.,de Franchis R.,Kraus J.P.,Valle D.
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Hum. Mol. Genet.
3
1883-1886
1994
1166028
Kraus J.P.
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.
J. Inherit. Metab. Dis.
17
383-390
1994
1166029
Shih V.E.,Fringer J.M.,Mandell R.,Kraus J.P.,Berry G.T.,Heidenreich R.A.,Korson M.S.,Levy H.L.,Ramesh V.
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.
Am. J. Hum. Genet.
57
34-39
1995
1166030
Sebastio G.,Sperandeo M.P.,Panico M.,de Franchis R.,Kraus J.P.,Andria G.
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Am. J. Hum. Genet.
56
1324-1333
1995
1166031
Kluijtmans L.A.J.,Blom H.J.,Boers G.H.J.,van Oost B.A.,Trijbels F.J.M.,van den Heuvel L.P.W.J.
Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.
Hum. Genet.
96
249-250
1995
1166032
Kruger W.D.,Cox D.R.
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.
Hum. Mol. Genet.
4
1155-1161
1995
1166033
Sperandeo M.P.,Panico M.,Pepe A.,Candito M.,de Franchis R.,Kraus J.P.,Andria G.,Sebastio G.
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11.
J. Inherit. Metab. Dis.
18
211-214
1995
1166034
Kluijtmans L.A.J.,Boers G.H.J.,Stevens E.M.B.,Renier W.O.,Kraus J.P.,Trijbels F.J.M.,van den Heuvel L.P.W.J.,Blom H.J.
Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.
J. Clin. Invest.
98
285-289
1996
1166035
Sperandeo M.P.,Candito M.,Sebastio G.,Rolland M.O.,Turc-Carel C.,Giudicelli H.,Dellamonica P.,Andria G.
Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.
J. Inherit. Metab. Dis.
19
351-356
1996
1166036
Dawson P.A.,Cox A.J.,Emmerson B.T.,Dudman N.P.B.,Kraus J.P.,Gordon R.B.
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
Eur. J. Hum. Genet.
5
15-21
1997
1166037
Kim C.E.,Gallagher P.M.,Guttormsen A.B.,Refsum H.,Ueland P.M.,Ose L.,Foelling I.,Whitehead A.S.,Tsai M.Y.,Kruger W.D.
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Hum. Mol. Genet.
6
2213-2221
1997
1166038
Aral B.,Coude M.,London J.,Aupetit J.,Chasse J.-F.,Zabot M.-T.,Chadefaux-Vekemans B.,Kamoun P.
Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients.
Hum. Mutat.
9
81-82
1997
1166039
Kozich V.,Janosik M.,Sokolova J.,Oliveriusova J.,Orendac M.,Kraus J.P.,Elleder D.
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
J. Inherit. Metab. Dis.
20
363-366
1997
1166040
Tsai M.Y.,Wong P.W.K.,Garg U.,Hanson N.Q.,Schwichtenberg K.
Two novel mutations in the cystathionine beta-synthase gene of homocystinuric patients.
Mol. Diagn.
2
129-133
1997
1166041
Gordon R.B.,Cox A.J.,Dawson P.A.,Emmerson B.T.,Kraus J.P.,Dudman N.P.
Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria.
Hum. Mutat.
11
332-332
1998
1166042
Gallagher P.M.,Naughten E.,Hanson N.Q.,Schwichtenberg K.,Bignell M.,Yuan M.,Ward P.,Yap S.,Whitehead A.S.,Tsai M.Y.
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Mol. Genet. Metab.
65
298-302
1998
1166043
de Franchis R.,Kraus E.,Kozich V.,Sebastio G.,Kraus J.P.
Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.
Hum. Mutat.
13
453-457
1999
1166044
Gat-Yablonski G.,Mandel H.,Fowler B.,Taleb O.,Sela B.-A.
Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.
Hum. Mutat.
16
372-372
2000
1166045
Janosik M.,Oliveriusova J.,Janosikova B.,Sokolova J.,Kraus E.,Kraus J.P.,Kozich V.
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
Am. J. Hum. Genet.
68
1506-1513
2001
1166046
Castro R.,Heil S.G.,Rivera I.,Jakobs C.,de Almeida I.T.,Blom H.J.
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.
Clin. Genet.
60
161-163
2001
1166047
Maclean K.N.,Gaustadnes M.,Oliveriusova J.,Janosik M.,Kraus E.,Kozich V.,Kery V.,Skovby F.,Ruediger N.,Ingerslev J.,Stabler S.P.,Allen R.H.,Kraus J.P.
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Hum. Mutat.
19
641-655
2002
1166048
Gaustadnes M.,Wilcken B.,Oliveriusova J.,McGill J.,Fletcher J.,Kraus J.P.,Wilcken D.E.
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Hum. Mutat.
20
117-126
2002
1166049
Urreizti R.,Balcells S.,Rodes M.,Vilarinho L.,Baldellou A.,Couce M.L.,Munoz C.,Campistol J.,Pinto X.,Vilaseca M.A.,Grinberg D.
Spectrum of CBS mutations in 16 homocystinuric patients from the iberian peninsula: high prevalence of T191M and absence of I278T or G307S.
Hum. Mutat.
22
103-103
2003
1166050
Kruger W.D.,Wang L.,Jhee K.H.,Singh R.H.,Elsas L.J. II
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
Hum. Mutat.
22
434-441
2003
1166051
Orendac M.,Pronicka E.,Kubalska J.,Janosik M.,Sokolova J.,Linnebank M.,Koch H.G.,Kozich V.
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.
Hum. Mutat.
23
631-631
2004
1166052
Linnebank M.,Janosik M.,Kozich V.,Pronicka E.,Kubalska J.,Sokolova J.,Linnebank A.,Schmidt E.,Leyendecker C.,Klockgether T.,Kraus J.P.,Koch H.G.
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype.
Hum. Mutat.
24
352-353
2004
1166053
Porto M.P.R.,Galdieri L.C.,Pereira V.G.,Vergani N.,da Rocha J.C.C.,Micheletti C.,Martins A.M.,Perez A.B.A.,Almeida V.D.
Molecular analysis of homocystinuria in Brazilian patients.
Clin. Chim. Acta
362
71-78
2005
1166054
Lee S.-J.,Lee D.H.,Yoo H.-W.,Koo S.K.,Park E.-S.,Park J.-W.,Lim H.G.,Jung S.-C.
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
J. Hum. Genet.
50
648-654
2005
1166055
Urreizti R.,Asteggiano C.,Cozar M.,Frank N.,Vilaseca M.A.,Grinberg D.,Balcells S.
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
Hum. Mutat.
27
211-211
2006
1166056
Cozar M.,Urreizti R.,Vilarinho L.,Grosso C.,Dodelson de Kremer R.,Asteggiano C.G.,Dalmau J.,Garcia A.M.,Vilaseca M.A.,Grinberg D.,Balcells S.
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Hum. Mutat.
32
835-842
2011
1166057
Kwok J.S.,Fung S.L.,Lui G.C.,Law E.L.,Chan M.H.,Leung C.B.,Tang N.L.
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.
Pathology
43
81-83
2011
1166058
Smith A.T.,Su Y.,Stevens D.J.,Majtan T.,Kraus J.P.,Burstyn J.N.
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine beta-synthase.
Biochemistry
51
6360-6370
2012
1166059
Casique L.,Kabil O.,Banerjee R.,Martinez J.C.,De Lucca M.
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Gene
531
117-124
2013
1166060
Mendes M.I.,Santos A.S.,Smith D.E.,Lino P.R.,Colaco H.G.,de Almeida I.T.,Vicente J.B.,Salomons G.S.,Rivera I.,Blom H.J.,Leandro P.
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
Hum. Mutat.
35
1195-1202
2014
1166061
Mendes M.I.,Colaco H.G.,Smith D.E.,Ramos R.J.,Pop A.,van Dooren S.J.,Tavares de Almeida I.,Kluijtmans L.A.,Janssen M.C.,Rivera I.,Salomons G.S.,Leandro P.,Blom H.J.
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
J. Inherit. Metab. Dis.
37
245-254
2014
