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P35520

- CBS_HUMAN

UniProt

P35520 - CBS_HUMAN

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Protein
Cystathionine beta-synthase
Gene
CBS
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.

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)
Metal bindingi65 – 651Iron (heme axial ligand)
Binding sitei149 – 1491Pyridoxal phosphate
Binding sitei349 – 3491Pyridoxal phosphate

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

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. Nucleus 1 Publication

GO - Cellular componenti

  1. cytosol Source: UniProtKB
  2. nucleus Source: UniProtKB
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.35 Publications
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. 2 Publications
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. 2 Publications
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. 1 Publication
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. 3 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. 2 Publications
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. 2 Publications
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. 6 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. 1 Publication
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. 2 Publications
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. 2 Publications
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. 2 Publications
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. 2 Publications
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 – 11Removed By similarity
Chaini2 – 551550Cystathionine beta-synthase
PRO_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)1 Publication

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.1 Publication

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

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.

Miscellaneous databases

EvolutionaryTraceiP35520.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini418 – 47659CBS
Add
BLAST

Region

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

Sequence similaritiesi

Contains 1 CBS domain.

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

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

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. 2 Publications
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. 2 Publications
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. 1 Publication
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. 3 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. 2 Publications
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. 2 Publications
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. 6 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. 1 Publication
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. 2 Publications
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. 2 Publications
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. 2 Publications
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. 2 Publications
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. 1 Publication
Corresponds to variant rs150828989 [ dbSNP | Ensembl ].
VAR_046938

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei518 – 5181Y → SQDQAWAGVVGGPAD in isoform 2.
VSP_001217

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 581R → P in CAA61252. 1 Publication

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
, X91910, X98811, X98812, X98813, X98814, X98815, X98816, X98817, X98818, X98819, X98820, X98821, X98822, X98823 Genomic DNA. Translation: CAA61252.1.
AF042836 Genomic DNA. Translation: AAC64684.1.
AF042836 Genomic DNA. Translation: AAC64683.1.
BT007154 mRNA. Translation: AAP35818.1.
AK313691 mRNA. Translation: BAG36440.1.
CH471079 Genomic DNA. Translation: EAX09508.1.
CH471079 Genomic DNA. Translation: EAX09509.1.
CH471079 Genomic DNA. Translation: EAX09510.1.
CH471079 Genomic DNA. Translation: EAX09511.1.
CH471079 Genomic DNA. Translation: EAX09515.1.
BC000440 mRNA. Translation: AAH00440.1.
BC007257 mRNA. Translation: AAH07257.1.
BC010242 mRNA. Translation: AAH10242.1.
BC011381 mRNA. Translation: AAH11381.1.
CCDSiCCDS13693.1. [P35520-1]
PIRiA55760.
RefSeqiNP_000062.1. NM_000071.2. [P35520-1]
NP_001171479.1. NM_001178008.1. [P35520-1]
NP_001171480.1. NM_001178009.1. [P35520-1]
XP_006723989.1. XM_006723926.1. [P35520-1]
XP_006724120.1. XM_006724057.1. [P35520-1]
UniGeneiHs.533013.

Genome annotation databases

EnsembliENST00000352178; ENSP00000344460; ENSG00000160200. [P35520-1]
ENST00000359624; ENSP00000352643; ENSG00000160200. [P35520-1]
ENST00000398158; ENSP00000381225; ENSG00000160200. [P35520-1]
ENST00000398165; ENSP00000381231; ENSG00000160200. [P35520-1]
ENST00000398168; ENSP00000381234; ENSG00000160200. [P35520-2]
GeneIDi102724560.
875.
KEGGihsa:102724560.
hsa:875.
UCSCiuc002zcs.1. human. [P35520-1]

Polymorphism databases

DMDMi543959.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

CBS mutation database

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
, X91910 , X98811 , X98812 ,