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P35520

- CBS_HUMAN

UniProt

P35520 - CBS_HUMAN

Protein

Cystathionine beta-synthase

Gene

CBS

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 172 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide, especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the brain to protect neurons against hypoxic injury By similarity.By similarity

    Catalytic activityi

    L-serine + L-homocysteine = L-cystathionine + H2O.

    Cofactori

    Pyridoxal phosphate.

    Enzyme regulationi

    Allosterically activated by adenosyl-methionine (AdoMet).

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi52 – 521Iron (heme axial ligand)2 Publications
    Metal bindingi65 – 651Iron (heme axial ligand)2 Publications
    Binding sitei149 – 1491Pyridoxal phosphate2 Publications
    Binding sitei349 – 3491Pyridoxal phosphate2 Publications

    GO - Molecular functioni

    1. adenyl nucleotide binding Source: InterPro
    2. cystathionine beta-synthase activity Source: UniProtKB
    3. enzyme binding Source: UniProtKB
    4. heme binding Source: UniProtKB
    5. identical protein binding Source: IntAct
    6. metal ion binding Source: UniProtKB-KW
    7. modified amino acid binding Source: UniProtKB
    8. protein binding Source: UniProtKB
    9. protein homodimerization activity Source: UniProtKB
    10. pyridoxal phosphate binding Source: UniProtKB
    11. ubiquitin protein ligase binding Source: UniProtKB

    GO - Biological processi

    1. blood vessel remodeling Source: Ensembl
    2. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
    3. cellular nitrogen compound metabolic process Source: Reactome
    4. cellular response to hypoxia Source: Ensembl
    5. cerebellum morphogenesis Source: Ensembl
    6. cysteine biosynthetic process from serine Source: InterPro
    7. cysteine biosynthetic process via cystathionine Source: InterPro
    8. endochondral ossification Source: Ensembl
    9. homocysteine catabolic process Source: UniProtKB
    10. homocysteine metabolic process Source: UniProtKB
    11. hydrogen sulfide biosynthetic process Source: UniProtKB
    12. L-cysteine catabolic process Source: UniProtKB
    13. L-serine catabolic process Source: UniProtKB
    14. L-serine metabolic process Source: UniProtKB
    15. maternal process involved in female pregnancy Source: Ensembl
    16. negative regulation of apoptotic process Source: Ensembl
    17. regulation of blood vessel size Source: Ensembl
    18. regulation of cGMP metabolic process Source: Ensembl
    19. regulation of JUN kinase activity Source: Ensembl
    20. response to folic acid Source: Ensembl
    21. small molecule metabolic process Source: Reactome
    22. sulfur amino acid metabolic process Source: Reactome
    23. superoxide metabolic process Source: Ensembl
    24. transsulfuration Source: Reactome

    Keywords - Molecular functioni

    Lyase

    Keywords - Biological processi

    Amino-acid biosynthesis, Cysteine biosynthesis

    Keywords - Ligandi

    Heme, Iron, Metal-binding, Pyridoxal phosphate

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08461-MONOMER.
    ReactomeiREACT_115589. Cysteine formation from homocysteine.
    SABIO-RKP35520.
    UniPathwayiUPA00136; UER00201.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Cystathionine beta-synthase (EC:4.2.1.22)
    Alternative name(s):
    Beta-thionase
    Serine sulfhydrase
    Gene namesi
    Name:CBS
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:1550. CBS.

    Subcellular locationi

    Cytoplasm 1 Publication. Nucleus 1 Publication

    GO - Cellular componenti

    1. cytosol Source: UniProtKB
    2. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.34 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti49 – 491P → L in CBSD. 1 Publication
    VAR_008049
    Natural varianti58 – 581R → W in CBSD; 18% of activity; linked with Val-113. 1 Publication
    VAR_008050
    Natural varianti65 – 651H → R in CBSD. 1 Publication
    VAR_021790
    Natural varianti78 – 781P → R in CBSD; 50% of activity; severe form. 1 Publication
    VAR_002171
    Natural varianti85 – 851G → R in CBSD; loss of activity. 1 Publication
    VAR_008051
    Natural varianti88 – 881P → S in CBSD. 1 Publication
    VAR_002172
    Natural varianti101 – 1011L → P in CBSD; common mutation in Irish population; loss of activity. 3 Publications
    VAR_021791
    Natural varianti102 – 1021K → N in CBSD; 50% of activity. 1 Publication
    VAR_002173
    Natural varianti102 – 1021K → Q in CBSD; severe form; linked with Arg-77. 1 Publication
    Corresponds to variant rs34040148 [ dbSNP | Ensembl ].
    VAR_008052
    Natural varianti109 – 1091C → R in CBSD; loss of activity. 1 Publication
    VAR_021792
    Natural varianti114 – 1141A → V in CBSD; mild form; when linked with W-58 severe form; partial loss of activity; affects tetramer formation by promoting formation of larger aggregates. 2 Publications
    VAR_002174
    Natural varianti116 – 1161G → R in CBSD. 1 Publication
    VAR_008053
    Natural varianti121 – 1211R → C in CBSD.
    VAR_008054
    Natural varianti121 – 1211R → H in CBSD.
    VAR_008055
    Natural varianti121 – 1211R → L in CBSD; mild form.
    VAR_008056
    Natural varianti125 – 1251R → P in CBSD. 1 Publication
    VAR_046923
    Natural varianti125 – 1251R → Q in CBSD; severe form; loss of activity; when linked with D-132 moderate form. 3 Publications
    VAR_002175
    Natural varianti125 – 1251R → W in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_008057
    Natural varianti126 – 1261M → V in CBSD; loss of activity. 1 Publication
    VAR_008058
    Natural varianti128 – 1281E → D in CBSD.
    VAR_008059
    Natural varianti131 – 1311E → D in CBSD; loss of activity; linked with Q-125. 1 Publication
    VAR_002176
    Natural varianti139 – 1391G → R in CBSD; mild form. 1 Publication
    VAR_008060
    Natural varianti143 – 1431I → M in CBSD; 4% of activity; stable. 1 Publication
    VAR_021793
    Natural varianti144 – 1441E → K in CBSD; loss of activity. 5 Publications
    VAR_002177
    Natural varianti145 – 1451P → L in CBSD; linked with Q-438. 1 Publication
    VAR_002178
    Natural varianti148 – 1481G → R in CBSD; loss of activity; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_008061
    Natural varianti151 – 1599Missing in CBSD.
    VAR_008063
    Natural varianti151 – 1511G → R in CBSD.
    VAR_008062
    Natural varianti152 – 1521I → M in CBSD; severe form.
    VAR_008064
    Natural varianti154 – 1541L → Q in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046924
    Natural varianti155 – 1551A → T in CBSD; complete loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 1 Publication
    VAR_008065
    Natural varianti155 – 1551A → V in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046925
    Natural varianti165 – 1651C → Y in CBSD; severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity. 4 Publications
    VAR_002179
    Natural varianti168 – 1681V → A in CBSD. 1 Publication
    VAR_046926
    Natural varianti168 – 1681V → M in CBSD. 1 Publication
    VAR_002180
    Natural varianti173 – 1731M → V in CBSD; presents 40% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure.
    VAR_046927
    Natural varianti173 – 1731Missing in CBSD; loss of activity. 1 Publication
    VAR_066098
    Natural varianti176 – 1761E → K in CBSD; severe form; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 2 Publications
    VAR_008066
    Natural varianti180 – 1801V → A in CBSD.
    VAR_008067
    Natural varianti191 – 1911T → M in CBSD; moderate and severe forms; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 2 Publications
    VAR_008068
    Natural varianti198 – 1981D → V in CBSD.
    VAR_008069
    Natural varianti200 – 2001P → L in CBSD. 1 Publication
    VAR_066099
    Natural varianti224 – 2241R → H in CBSD. 1 Publication
    VAR_002181
    Natural varianti226 – 2261A → T in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure. 1 Publication
    VAR_008070
    Natural varianti228 – 2281N → K in CBSD; loss of activity. 3 Publications
    VAR_021794
    Natural varianti228 – 2281N → S in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046928
    Natural varianti231 – 2311A → P in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046929
    Natural varianti234 – 2341D → N in CBSD.
    VAR_008071
    Natural varianti234 – 2341Missing in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046930
    Natural varianti239 – 2391E → K in CBSD.
    VAR_002182
    Natural varianti247 – 25610Missing in CBSD.
    VAR_046931
    Natural varianti257 – 2571T → M in CBSD; moderate to severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity. 2 Publications
    VAR_002183
    Natural varianti262 – 2621T → M in CBSD; moderate form. 2 Publications
    VAR_008072
    Natural varianti262 – 2621T → R in CBSD; severe form. 1 Publication
    VAR_021795
    Natural varianti266 – 2661R → G in CBSD.
    VAR_008073
    Natural varianti266 – 2661R → K in CBSD; mild form. 1 Publication
    Corresponds to variant rs28934275 [ dbSNP | Ensembl ].
    VAR_008074
    Natural varianti270 – 2701Missing in CBSD.
    VAR_008075
    Natural varianti275 – 2751C → Y in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021796
    Natural varianti278 – 2781I → S in CBSD; loss of activity. 1 Publication
    VAR_066100
    Natural varianti278 – 2781I → T in CBSD; mild to severe form; common mutation; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 17 Publications
    Corresponds to variant rs5742905 [ dbSNP | Ensembl ].
    VAR_002184
    Natural varianti281 – 2811D → N in CBSD; loss of activity. 1 Publication
    VAR_066101
    Natural varianti288 – 2881A → P in CBSD. 1 Publication
    VAR_046932
    Natural varianti288 – 2881A → T in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046933
    Natural varianti290 – 2901P → L in CBSD. 2 Publications
    VAR_002185
    Natural varianti302 – 3021E → K in CBSD; 5% of activity. 2 Publications
    VAR_008076
    Natural varianti305 – 3051G → R in CBSD.
    VAR_008077
    Natural varianti307 – 3071G → S in CBSD; moderate to severe form; linked with D-534; has significantly decreased levels of enzyme activity; common mutation. 7 Publications
    VAR_002186
    Natural varianti320 – 3201V → A in CBSD; has 36% of wild-type enzyme activity. 2 Publications
    VAR_008078
    Natural varianti321 – 3211D → V in CBSD; loss of activity. 1 Publication
    VAR_066102
    Natural varianti331 – 3311A → E in CBSD. 2 Publications
    VAR_008079
    Natural varianti331 – 3311A → V in CBSD. 1 Publication
    VAR_002187
    Natural varianti336 – 3361R → C in CBSD; protein expression is comparable to wild-type; loss of activity; absent capacity to form multimeric quaternary structure. 5 Publications
    VAR_002188
    Natural varianti336 – 3361R → H in CBSD; mild form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure.
    VAR_008080
    Natural varianti338 – 3381L → P in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021797
    Natural varianti347 – 3471G → S in CBSD; protein expression is comparable to wild-type; loss of activity. 2 Publications
    VAR_021798
    Natural varianti349 – 3491S → N in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021799
    Natural varianti352 – 3521S → N in CBSD.
    VAR_008081
    Natural varianti353 – 3531T → M in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 4 Publications
    VAR_008082
    Natural varianti354 – 3541V → M in CBSD.
    VAR_008083
    Natural varianti355 – 3551A → P in CBSD. 1 Publication
    VAR_021800
    Natural varianti361 – 3611A → T in CBSD. 1 Publication
    VAR_046934
    Natural varianti369 – 3691R → C in CBSD; when linked with C-491 severe form. 2 Publications
    Corresponds to variant rs117687681 [ dbSNP | Ensembl ].
    VAR_008084
    Natural varianti369 – 3691R → H in CBSD.
    Corresponds to variant rs11700812 [ dbSNP | Ensembl ].
    VAR_002189
    Natural varianti370 – 3701C → Y in CBSD. 1 Publication
    VAR_008085
    Natural varianti371 – 3711V → M in CBSD. 2 Publications
    VAR_002190
    Natural varianti376 – 3761D → N in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046935
    Natural varianti379 – 3791R → Q in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021801
    Natural varianti379 – 3791R → W in CBSD. 1 Publication
    VAR_046936
    Natural varianti384 – 3841K → E in CBSD; severe form. 1 Publication
    VAR_002191
    Natural varianti384 – 3841K → N in CBSD; moderate form.
    VAR_008086
    Natural varianti391 – 3911M → I in CBSD.
    VAR_008087
    Natural varianti422 – 4221P → L in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    Corresponds to variant rs28934892 [ dbSNP | Ensembl ].
    VAR_021802
    Natural varianti434 – 4341T → N in CBSD.
    VAR_008088
    Natural varianti435 – 4351I → T in CBSD; does not affect activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    VAR_008089
    Natural varianti439 – 4391R → Q in CBSD; linked with K-143. 3 Publications
    VAR_008090
    Natural varianti444 – 4441D → N in CBSD; impaired stimulation by S-adenosylmethionine. 2 Publications
    Corresponds to variant rs28934891 [ dbSNP | Ensembl ].
    VAR_002192
    Natural varianti446 – 4461A → S in CBSD. 1 Publication
    VAR_066103
    Natural varianti454 – 4541V → E in CBSD. 1 Publication
    VAR_002193
    Natural varianti456 – 4561L → P in CBSD; severe; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021803
    Natural varianti466 – 4661S → L in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    VAR_008091
    Natural varianti491 – 4911R → C in CBSD; linked with C-368.
    VAR_008092
    Natural varianti526 – 5261Q → K in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046937
    Natural varianti534 – 5341V → D in CBSD; linked with S-306.
    VAR_008093
    Natural varianti539 – 5391L → S in CBSD. 1 Publication
    Corresponds to variant rs121964968 [ dbSNP | Ensembl ].
    VAR_002194

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi272 – 2721C → A: Reduced heme content and cystathionine beta-synthase activity. 1 Publication
    Mutagenesisi275 – 2751C → S: Reduced heme content and cystathionine beta-synthase activity. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi236200. phenotype.
    Orphaneti394. Classical homocystinuria.
    PharmGKBiPA26123.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 551550Cystathionine beta-synthasePRO_0000167133Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei27 – 271Phosphoserine1 Publication
    Modified residuei119 – 1191N6-(pyridoxal phosphate)lysine
    Cross-linki211 – 211Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiP35520.
    PaxDbiP35520.
    PRIDEiP35520.

    PTM databases

    PhosphoSiteiP35520.

    Expressioni

    Tissue specificityi

    In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney.

    Gene expression databases

    ArrayExpressiP35520.
    BgeeiP35520.
    CleanExiHS_CBS.
    GenevestigatoriP35520.

    Organism-specific databases

    HPAiHPA001223.

    Interactioni

    Subunit structurei

    Homotetramer.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself3EBI-740135,EBI-740135

    Protein-protein interaction databases

    BioGridi107321. 40 interactions.
    IntActiP35520. 10 interactions.
    MINTiMINT-133409.
    STRINGi9606.ENSP00000344460.

    Structurei

    Secondary structure

    1
    551
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi60 – 623
    Beta strandi75 – 795
    Helixi80 – 823
    Beta strandi83 – 853
    Beta strandi89 – 913
    Helixi95 – 984
    Beta strandi103 – 1097
    Helixi110 – 1123
    Beta strandi113 – 1175
    Helixi119 – 13214
    Beta strandi141 – 1455
    Helixi149 – 16113
    Beta strandi164 – 1707
    Helixi175 – 1839
    Beta strandi187 – 1915
    Beta strandi197 – 1993
    Helixi203 – 21311
    Beta strandi217 – 2193
    Turni222 – 2243
    Helixi227 – 2348
    Helixi236 – 2438
    Turni244 – 2463
    Beta strandi249 – 2546
    Beta strandi256 – 2583
    Helixi259 – 27113
    Beta strandi272 – 2743
    Beta strandi276 – 2827
    Beta strandi288 – 2903
    Helixi291 – 2944
    Helixi317 – 3193
    Beta strandi322 – 3265
    Helixi328 – 34215
    Helixi348 – 36013
    Helixi361 – 3633
    Beta strandi369 – 3746
    Helixi378 – 3814
    Turni382 – 3865
    Helixi388 – 3936
    Helixi399 – 4046
    Turni408 – 4114
    Helixi414 – 4174
    Helixi431 – 44111
    Beta strandi444 – 4496
    Beta strandi455 – 4606
    Helixi461 – 4699
    Helixi479 – 4813
    Beta strandi488 – 4914
    Helixi496 – 5027
    Turni503 – 5053
    Beta strandi509 – 5124
    Beta strandi530 – 5345
    Helixi536 – 54712

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1JBQX-ray2.60A/B/C/D/E/F2-413[»]
    1M54X-ray2.90A/B/C/D/E/F44-406[»]
    4COOX-ray2.00A/B1-551[»]
    4L0DX-ray2.97A/B1-551[»]
    4L27X-ray3.39A/B/C/D2-551[»]
    4L28X-ray2.63A/B/C/D2-551[»]
    4L3VX-ray3.63A/B/C2-551[»]
    ProteinModelPortaliP35520.
    SMRiP35520. Positions 41-550.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP35520.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini418 – 47659CBSPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni256 – 2605Pyridoxal phosphate binding

    Sequence similaritiesi

    Contains 1 CBS domain.PROSITE-ProRule annotation

    Keywords - Domaini

    CBS domain

    Phylogenomic databases

    eggNOGiCOG0031.
    HOGENOMiHOG000217392.
    HOVERGENiHBG000918.
    KOiK01697.
    OMAiEEIWTQT.
    OrthoDBiEOG7J70F1.
    PhylomeDBiP35520.
    TreeFamiTF300784.

    Family and domain databases

    InterProiIPR000644. CBS_dom.
    IPR005857. Cysta_beta_synth.
    IPR001216. P-phosphate_BS.
    IPR001926. Trp_syn_b_sub_like_PLP_eny_SF.
    [Graphical view]
    PfamiPF00571. CBS. 1 hit.
    PF00291. PALP. 1 hit.
    [Graphical view]
    SMARTiSM00116. CBS. 1 hit.
    [Graphical view]
    SUPFAMiSSF53686. SSF53686. 1 hit.
    TIGRFAMsiTIGR01137. cysta_beta. 1 hit.
    PROSITEiPS51371. CBS. 1 hit.
    PS00901. CYS_SYNTHASE. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P35520-1) [UniParc]FASTAAdd to Basket

    Also known as: Major

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MPSETPQAEV GPTGCPHRSG PHSAKGSLEK GSPEDKEAKE PLWIRPDAPS    50
    RCTWQLGRPA SESPHHHTAP AKSPKILPDI LKKIGDTPMV RINKIGKKFG 100
    LKCELLAKCE FFNAGGSVKD RISLRMIEDA ERDGTLKPGD TIIEPTSGNT 150
    GIGLALAAAV RGYRCIIVMP EKMSSEKVDV LRALGAEIVR TPTNARFDSP 200
    ESHVGVAWRL KNEIPNSHIL DQYRNASNPL AHYDTTADEI LQQCDGKLDM 250
    LVASVGTGGT ITGIARKLKE KCPGCRIIGV DPEGSILAEP EELNQTEQTT 300
    YEVEGIGYDF IPTVLDRTVV DKWFKSNDEE AFTFARMLIA QEGLLCGGSA 350
    GSTVAVAVKA AQELQEGQRC VVILPDSVRN YMTKFLSDRW MLQKGFLKEE 400
    DLTEKKPWWW HLRVQELGLS APLTVLPTIT CGHTIEILRE KGFDQAPVVD 450
    EAGVILGMVT LGNMLSSLLA GKVQPSDQVG KVIYKQFKQI RLTDTLGRLS 500
    HILEMDHFAL VVHEQIQYHS TGKSSQRQMV FGVVTAIDLL NFVAAQERDQ 550
    K 551
    Length:551
    Mass (Da):60,587
    Last modified:January 23, 2007 - v2
    Checksum:iF89E69C67BDE6701
    GO
    Isoform 2 (identifier: P35520-2) [UniParc]FASTAAdd to Basket

    Also known as: Minor

    The sequence of this isoform differs from the canonical sequence as follows:
         518-518: Y → SQDQAWAGVVGGPAD

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    Length:565
    Mass (Da):61,863
    Checksum:i8BD062B080067092
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti58 – 581R → P in CAA61252. (PubMed:9383285)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181R → C Associated with 1/3 to 2/3 the enzyme activity of the wild-type. 1 Publication
    Corresponds to variant rs201827340 [ dbSNP | Ensembl ].
    VAR_046921
    Natural varianti49 – 491P → L in CBSD. 1 Publication
    VAR_008049
    Natural varianti58 – 581R → W in CBSD; 18% of activity; linked with Val-113. 1 Publication
    VAR_008050
    Natural varianti65 – 651H → R in CBSD. 1 Publication
    VAR_021790
    Natural varianti69 – 691A → P.1 Publication
    Corresponds to variant rs17849313 [ dbSNP | Ensembl ].
    VAR_046922
    Natural varianti78 – 781P → R in CBSD; 50% of activity; severe form. 1 Publication
    VAR_002171
    Natural varianti85 – 851G → R in CBSD; loss of activity. 1 Publication
    VAR_008051
    Natural varianti88 – 881P → S in CBSD. 1 Publication
    VAR_002172
    Natural varianti101 – 1011L → P in CBSD; common mutation in Irish population; loss of activity. 3 Publications
    VAR_021791
    Natural varianti102 – 1021K → N in CBSD; 50% of activity. 1 Publication
    VAR_002173
    Natural varianti102 – 1021K → Q in CBSD; severe form; linked with Arg-77. 1 Publication
    Corresponds to variant rs34040148 [ dbSNP | Ensembl ].
    VAR_008052
    Natural varianti109 – 1091C → R in CBSD; loss of activity. 1 Publication
    VAR_021792
    Natural varianti114 – 1141A → V in CBSD; mild form; when linked with W-58 severe form; partial loss of activity; affects tetramer formation by promoting formation of larger aggregates. 2 Publications
    VAR_002174
    Natural varianti116 – 1161G → R in CBSD. 1 Publication
    VAR_008053
    Natural varianti121 – 1211R → C in CBSD.
    VAR_008054
    Natural varianti121 – 1211R → H in CBSD.
    VAR_008055
    Natural varianti121 – 1211R → L in CBSD; mild form.
    VAR_008056
    Natural varianti125 – 1251R → P in CBSD. 1 Publication
    VAR_046923
    Natural varianti125 – 1251R → Q in CBSD; severe form; loss of activity; when linked with D-132 moderate form. 3 Publications
    VAR_002175
    Natural varianti125 – 1251R → W in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_008057
    Natural varianti126 – 1261M → V in CBSD; loss of activity. 1 Publication
    VAR_008058
    Natural varianti128 – 1281E → D in CBSD.
    VAR_008059
    Natural varianti131 – 1311E → D in CBSD; loss of activity; linked with Q-125. 1 Publication
    VAR_002176
    Natural varianti139 – 1391G → R in CBSD; mild form. 1 Publication
    VAR_008060
    Natural varianti143 – 1431I → M in CBSD; 4% of activity; stable. 1 Publication
    VAR_021793
    Natural varianti144 – 1441E → K in CBSD; loss of activity. 5 Publications
    VAR_002177
    Natural varianti145 – 1451P → L in CBSD; linked with Q-438. 1 Publication
    VAR_002178
    Natural varianti148 – 1481G → R in CBSD; loss of activity; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_008061
    Natural varianti151 – 1599Missing in CBSD.
    VAR_008063
    Natural varianti151 – 1511G → R in CBSD.
    VAR_008062
    Natural varianti152 – 1521I → M in CBSD; severe form.
    VAR_008064
    Natural varianti154 – 1541L → Q in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046924
    Natural varianti155 – 1551A → T in CBSD; complete loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 1 Publication
    VAR_008065
    Natural varianti155 – 1551A → V in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046925
    Natural varianti165 – 1651C → Y in CBSD; severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity. 4 Publications
    VAR_002179
    Natural varianti168 – 1681V → A in CBSD. 1 Publication
    VAR_046926
    Natural varianti168 – 1681V → M in CBSD. 1 Publication
    VAR_002180
    Natural varianti173 – 1731M → V in CBSD; presents 40% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure.
    VAR_046927
    Natural varianti173 – 1731Missing in CBSD; loss of activity. 1 Publication
    VAR_066098
    Natural varianti176 – 1761E → K in CBSD; severe form; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 2 Publications
    VAR_008066
    Natural varianti180 – 1801V → A in CBSD.
    VAR_008067
    Natural varianti191 – 1911T → M in CBSD; moderate and severe forms; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 2 Publications
    VAR_008068
    Natural varianti198 – 1981D → V in CBSD.
    VAR_008069
    Natural varianti200 – 2001P → L in CBSD. 1 Publication
    VAR_066099
    Natural varianti224 – 2241R → H in CBSD. 1 Publication
    VAR_002181
    Natural varianti226 – 2261A → T in CBSD; presents 20% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure. 1 Publication
    VAR_008070
    Natural varianti228 – 2281N → K in CBSD; loss of activity. 3 Publications
    VAR_021794
    Natural varianti228 – 2281N → S in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046928
    Natural varianti231 – 2311A → P in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046929
    Natural varianti234 – 2341D → N in CBSD.
    VAR_008071
    Natural varianti234 – 2341Missing in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046930
    Natural varianti239 – 2391E → K in CBSD.
    VAR_002182
    Natural varianti247 – 25610Missing in CBSD.
    VAR_046931
    Natural varianti257 – 2571T → M in CBSD; moderate to severe form; protein expression is comparable to wild-type; significant decrease of enzyme activity. 2 Publications
    VAR_002183
    Natural varianti262 – 2621T → M in CBSD; moderate form. 2 Publications
    VAR_008072
    Natural varianti262 – 2621T → R in CBSD; severe form. 1 Publication
    VAR_021795
    Natural varianti266 – 2661R → G in CBSD.
    VAR_008073
    Natural varianti266 – 2661R → K in CBSD; mild form. 1 Publication
    Corresponds to variant rs28934275 [ dbSNP | Ensembl ].
    VAR_008074
    Natural varianti270 – 2701Missing in CBSD.
    VAR_008075
    Natural varianti275 – 2751C → Y in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021796
    Natural varianti278 – 2781I → S in CBSD; loss of activity. 1 Publication
    VAR_066100
    Natural varianti278 – 2781I → T in CBSD; mild to severe form; common mutation; loss of activity; severely affects tetramer formation by promoting formation of larger aggregates. 17 Publications
    Corresponds to variant rs5742905 [ dbSNP | Ensembl ].
    VAR_002184
    Natural varianti281 – 2811D → N in CBSD; loss of activity. 1 Publication
    VAR_066101
    Natural varianti288 – 2881A → P in CBSD. 1 Publication
    VAR_046932
    Natural varianti288 – 2881A → T in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 1 Publication
    VAR_046933
    Natural varianti290 – 2901P → L in CBSD. 2 Publications
    VAR_002185
    Natural varianti302 – 3021E → K in CBSD; 5% of activity. 2 Publications
    VAR_008076
    Natural varianti305 – 3051G → R in CBSD.
    VAR_008077
    Natural varianti307 – 3071G → S in CBSD; moderate to severe form; linked with D-534; has significantly decreased levels of enzyme activity; common mutation. 7 Publications
    VAR_002186
    Natural varianti320 – 3201V → A in CBSD; has 36% of wild-type enzyme activity. 2 Publications
    VAR_008078
    Natural varianti321 – 3211D → V in CBSD; loss of activity. 1 Publication
    VAR_066102
    Natural varianti331 – 3311A → E in CBSD. 2 Publications
    VAR_008079
    Natural varianti331 – 3311A → V in CBSD. 1 Publication
    VAR_002187
    Natural varianti336 – 3361R → C in CBSD; protein expression is comparable to wild-type; loss of activity; absent capacity to form multimeric quaternary structure. 5 Publications
    VAR_002188
    Natural varianti336 – 3361R → H in CBSD; mild form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure.
    VAR_008080
    Natural varianti338 – 3381L → P in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021797
    Natural varianti347 – 3471G → S in CBSD; protein expression is comparable to wild-type; loss of activity. 2 Publications
    VAR_021798
    Natural varianti349 – 3491S → N in CBSD; severe form; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021799
    Natural varianti352 – 3521S → N in CBSD.
    VAR_008081
    Natural varianti353 – 3531T → M in CBSD; protein expression is comparable to wild-type; significant decrease of enzyme activity. 4 Publications
    VAR_008082
    Natural varianti354 – 3541V → M in CBSD.
    VAR_008083
    Natural varianti355 – 3551A → P in CBSD. 1 Publication
    VAR_021800
    Natural varianti361 – 3611A → T in CBSD. 1 Publication
    VAR_046934
    Natural varianti369 – 3691R → C in CBSD; when linked with C-491 severe form. 2 Publications
    Corresponds to variant rs117687681 [ dbSNP | Ensembl ].
    VAR_008084
    Natural varianti369 – 3691R → H in CBSD.
    Corresponds to variant rs11700812 [ dbSNP | Ensembl ].
    VAR_002189
    Natural varianti370 – 3701C → Y in CBSD. 1 Publication
    VAR_008085
    Natural varianti371 – 3711V → M in CBSD. 2 Publications
    VAR_002190
    Natural varianti376 – 3761D → N in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046935
    Natural varianti379 – 3791R → Q in CBSD; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021801
    Natural varianti379 – 3791R → W in CBSD. 1 Publication
    VAR_046936
    Natural varianti384 – 3841K → E in CBSD; severe form. 1 Publication
    VAR_002191
    Natural varianti384 – 3841K → N in CBSD; moderate form.
    VAR_008086
    Natural varianti391 – 3911M → I in CBSD.
    VAR_008087
    Natural varianti422 – 4221P → L in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    Corresponds to variant rs28934892 [ dbSNP | Ensembl ].
    VAR_021802
    Natural varianti434 – 4341T → N in CBSD.
    VAR_008088
    Natural varianti435 – 4351I → T in CBSD; does not affect activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    VAR_008089
    Natural varianti439 – 4391R → Q in CBSD; linked with K-143. 3 Publications
    VAR_008090
    Natural varianti444 – 4441D → N in CBSD; impaired stimulation by S-adenosylmethionine. 2 Publications
    Corresponds to variant rs28934891 [ dbSNP | Ensembl ].
    VAR_002192
    Natural varianti446 – 4461A → S in CBSD. 1 Publication
    VAR_066103
    Natural varianti454 – 4541V → E in CBSD. 1 Publication
    VAR_002193
    Natural varianti456 – 4561L → P in CBSD; severe; exhibits an activity lower than 4% of the wild-type enzyme; absent capacity to form multimeric quaternary structure. 1 Publication
    VAR_021803
    Natural varianti466 – 4661S → L in CBSD; increased activity; does not affect tetramer formation; impaired stimulation by S-adenosylmethionine. 1 Publication
    VAR_008091
    Natural varianti491 – 4911R → C in CBSD; linked with C-368.
    VAR_008092
    Natural varianti526 – 5261Q → K in CBSD; has significantly decreased levels of enzyme activity. 1 Publication
    VAR_046937
    Natural varianti534 – 5341V → D in CBSD; linked with S-306.
    VAR_008093
    Natural varianti539 – 5391L → S in CBSD. 1 Publication
    Corresponds to variant rs121964968 [ dbSNP | Ensembl ].
    VAR_002194
    Natural varianti548 – 5481R → Q Presents 60% of the wild-type activity; dramatically reduced capacity to form multimeric quaternary structure.
    Corresponds to variant rs150828989 [ dbSNP | Ensembl ].
    VAR_046938

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei518 – 5181Y → SQDQAWAGVVGGPAD in isoform 2. CuratedVSP_001217

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    L19501 mRNA. Translation: AAA19874.1.
    X82166 mRNA. Translation: CAA57656.1.
    L14577 mRNA. Translation: AAA98524.1.
    X88562<