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Aliases for CBS Gene

Aliases for CBS Gene

  • Cystathionine-Beta-Synthase 2 3
  • Serine Sulfhydrase 3 4
  • Beta-Thionase 3 4
  • EC 4.2.1.22 4 63
  • Cystathionine Beta-Synthase 3
  • Methylcysteine Synthase 3
  • HIP4 3

External Ids for CBS Gene

Previous GeneCards Identifiers for CBS Gene

  • GC21M041021
  • GC21M043367
  • GC21M043346
  • GC21M044473
  • GC21M029891

Summaries for CBS Gene

Entrez Gene Summary for CBS Gene

  • The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for CBS Gene

CBS (Cystathionine-Beta-Synthase) is a Protein Coding gene. Diseases associated with CBS include homocystinuria, b6-responsive and nonresponsive types and homocystinuria caused by cystathionine beta-synthase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is LOC102724560.

UniProtKB/Swiss-Prot for CBS Gene

  • 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).

Gene Wiki entry for CBS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBS Gene

Genomics for CBS Gene

Regulatory Elements for CBS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CBS Gene

Start:
43,053,191 bp from pter
End:
43,076,943 bp from pter
Size:
23,753 bases
Orientation:
Minus strand

Genomic View for CBS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CBS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBS Gene

Proteins for CBS Gene

  • Protein details for CBS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35520-CBS_HUMAN
    Recommended name:
    Cystathionine beta-synthase
    Protein Accession:
    P35520
    Secondary Accessions:
    • B2R993
    • D3DSK4
    • Q99425
    • Q9BWC5

    Protein attributes for CBS Gene

    Size:
    551 amino acids
    Molecular mass:
    60587 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for CBS Gene

    Alternative splice isoforms for CBS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBS Gene

Proteomics data for CBS Gene at MOPED

Post-translational modifications for CBS Gene

  • Ubiquitination at Lys394
  • Modification sites at PhosphoSitePlus

Other Protein References for CBS Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CBS (CBS)

Domains for CBS Gene

Gene Families for CBS Gene

Graphical View of Domain Structure for InterPro Entry

P35520

UniProtKB/Swiss-Prot:

CBS_HUMAN :
  • P35520
Domain:
  • Contains 1 CBS domain.
Family:
  • Belongs to the cysteine synthase/cystathionine beta-synthase family.
genes like me logo Genes that share domains with CBS: view

Function for CBS Gene

Molecular function for CBS Gene

GENATLAS Biochemistry:
cystathionine beta synthase gene with several transcripts,alternatively spliced in 5,sulfur aminoacid metabolism,susceptibility gene to neural tube defect in association with MTHFR,no evidence of association with NTD in Netherlands and U.K.,interacting with huntingtin
UniProtKB/Swiss-Prot CatalyticActivity:
L-serine + L-homocysteine = L-cystathionine + H(2)O
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by adenosyl-methionine (AdoMet)
UniProtKB/Swiss-Prot Function:
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).

Enzyme Numbers (IUBMB) for CBS Gene

Gene Ontology (GO) - Molecular Function for CBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004122 cystathionine beta-synthase activity TAS --
GO:0005515 protein binding IPI 17087506
GO:0019825 oxygen binding IDA 24515102
GO:0019899 enzyme binding IPI 17087506
GO:0020037 heme binding IMP 18776696
genes like me logo Genes that share ontologies with CBS: view
genes like me logo Genes that share phenotypes with CBS: view

Animal Models for CBS Gene

MGI Knock Outs for CBS:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBS

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for CBS Gene

Localization for CBS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBS Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBS Gene COMPARTMENTS Subcellular localization image for CBS gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 3
extracellular 2
mitochondrion 2
chloroplast 1
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17087506
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CBS: view

Pathways for CBS Gene

genes like me logo Genes that share pathways with CBS: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P35520-CBS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2

Gene Ontology (GO) - Biological Process for CBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006535 cysteine biosynthetic process from serine IEA --
GO:0006563 L-serine metabolic process IDA 19010420
GO:0006565 L-serine catabolic process IDA 18776696
GO:0019343 cysteine biosynthetic process via cystathionine IBA --
genes like me logo Genes that share ontologies with CBS: view

Compounds for CBS Gene

(13) HMDB Compounds for CBS Gene

Compound Synonyms Cas Number PubMed IDs
Allocystathionine
  • DL-Allocystathionine
535-34-2
Heme
  • (protoporphyrinato)iron
14875-96-8
Homocysteine
  • (+-)-homocysteine
454-29-5
Hydrogen sulfide
  • Dihydrogen disulfide
7783-06-4
L-Cystathionine
  • L-(+)-Cystathionine
56-88-2

(5) Drugbank Compounds for CBS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Heme
target
L-Cysteine
  • (R)-2-Amino-3-mercaptopropanoic acid
52-90-4 target
L-Serine
  • (-)-Serine
56-45-1 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor
S-Adenosylmethionine
  • Acylcarnitine
29908-03-0 target activator

(1) IUPHAR Ligand for CBS Gene

Ligand Type Action Affinity Pubmed IDs
aminooxyacetic acid Inhibitor Inhibition

(63) Novoseek inferred chemical compound relationships for CBS Gene

Compound -log(P) Hits PubMed IDs
cystathionine 99.2 241
homocysteine 94.4 160
methionine 87.7 119
vitamin b6 85.8 31
folate 84.4 54
genes like me logo Genes that share compounds with CBS: view

Transcripts for CBS Gene

Unigene Clusters for CBS Gene

Cystathionine-beta-synthase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CBS

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBS Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - -
SP4: - - - - - - - -
SP5: -
SP6: -
SP7:
SP8: - - - -
SP9:
SP10:
SP11: - - - - - - - - - - - -
SP12: - - - -
SP13:
SP14:
SP15: - -
SP16:
SP17:
SP18: - - - -

ExUns: 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c · 15d ^ 16a · 16b · 16c ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22a · 22b · 22c
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - - -
SP6: - -
SP7: - -
SP8:
SP9: -
SP10: - -
SP11:
SP12:
SP13: - -
SP14: - -
SP15:
SP16:
SP17:
SP18:

Relevant External Links for CBS Gene

GeneLoc Exon Structure for
CBS
ECgene alternative splicing isoforms for
CBS

Expression for CBS Gene

mRNA expression in normal human tissues for CBS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBS Gene

This gene is overexpressed in Liver (10.4) and Pancreas (5.1).

Protein differential expression in normal tissues for CBS Gene

This gene is overexpressed in Gallbladder (31.6), Liver, secretome (16.5), and Liver (15.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CBS Gene

SOURCE GeneReport for Unigene cluster for CBS Gene Hs.533013

mRNA Expression by UniProt/SwissProt for CBS Gene

P35520-CBS_HUMAN
Tissue specificity: 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
genes like me logo Genes that share expressions with CBS: view

Expression partners for CBS Gene

In Situ Assay Products

Orthologs for CBS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBS Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CBS 35
  • 87.78 (n)
  • 87.3 (a)
CBS 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBS 35
  • 86.87 (n)
  • 88.44 (a)
CBS 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cbs 35
  • 82.66 (n)
  • 84.8 (a)
Cbs 16
Cbs 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CBS 35
  • 99.33 (n)
  • 99.27 (a)
CBS 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cbs 35
  • 82.75 (n)
  • 84.46 (a)
oppossum
(Monodelphis domestica)
Mammalia CBS 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBS 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBS 35
  • 74.18 (n)
  • 79.48 (a)
CBS 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CBS 36
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbs 35
  • 72.62 (n)
  • 76.61 (a)
Str.1560 35
African clawed frog
(Xenopus laevis)
Amphibia cbs-prov 35
zebrafish
(Danio rerio)
Actinopterygii cbsa 35
  • 69.21 (n)
  • 78.32 (a)
wufq06c06 35
cbsa 36
  • 72 (a)
OneToMany
cbsb 36
  • 69 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14041 35
fruit fly
(Drosophila melanogaster)
Insecta CG1753 37
  • 51 (a)
Cbs 35
  • 59.65 (n)
  • 52.76 (a)
Cbs 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000162 35
  • 60.28 (n)
  • 55.13 (a)
worm
(Caenorhabditis elegans)
Secernentea C17G1.7 37
  • 44 (a)
F54A3.4 37
  • 55 (a)
F59A7.9 37
  • 36 (a)
K10H10.2 37
  • 38 (a)
cbs-1 36
  • 27 (a)
OneToMany
cbs-2 36
  • 29 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR012C 35
  • 55.53 (n)
  • 47.79 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09317g 35
  • 50.6 (n)
  • 49.32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS4 35
  • 51.01 (n)
  • 49.39 (a)
CYS4 36
  • 41 (a)
OneToOne
CYS4 38
rice
(Oryza sativa)
Liliopsida Os06g0564500 35
  • 47.4 (n)
  • 43.18 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2405 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08216 35
  • 56.24 (n)
  • 52.55 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4303 36
  • 56 (a)
OneToOne
Species with no ortholog for CBS:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CBS Gene

ENSEMBL:
Gene Tree for CBS (if available)
TreeFam:
Gene Tree for CBS (if available)

Paralogs for CBS Gene

Paralogs for CBS Gene

Selected SIMAP similar genes for CBS Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CBS: view

Variants for CBS Gene

Sequence variations from dbSNP and Humsavar for CBS Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs12613 -- 43,053,581(-) ACTGC(A/G)CAGAG utr-variant-3-prime
rs234701 -- 43,056,649(+) GGCCC(A/G)GGCAT intron-variant
rs234702 -- 43,057,433(+) AGCCT(C/G)CTCTC intron-variant
rs234703 -- 43,057,890(+) GTGAC(C/T)GGGCA intron-variant
rs234704 -- 43,060,173(+) AGGAG(A/G)GACAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBS Gene

Variant ID Type Subtype PubMed ID
esv2666871 CNV Deletion 23128226
nsv913812 CNV Gain 21882294
nsv913822 CNV Loss 21882294
nsv459278 CNV Gain 19166990
nsv510800 CNV Loss 20534489
nsv913824 CNV Loss 21882294
dgv4754n71 CNV Loss 21882294
nsv913828 CNV Loss 21882294
nsv521438 CNV Loss 19592680
nsv526609 CNV Loss 19592680

Relevant External Links for CBS Gene

HapMap Linkage Disequilibrium report
CBS
Human Gene Mutation Database (HGMD)
CBS
Locus Specific Mutation Databases (LSDB)
CBS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBS Gene

Disorders for CBS Gene

(1) OMIM Diseases for CBS Gene (613381)

UniProtKB/Swiss-Prot

CBS_HUMAN
  • 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. {ECO:0000269 PubMed:10215408, ECO:0000269 PubMed:10408774, ECO:0000269 PubMed:10462600, ECO:0000269 PubMed:11013450, ECO:0000269 PubMed:11359213, ECO:0000269 PubMed:11553052, ECO:0000269 PubMed:12007221, ECO:0000269 PubMed:12124992, ECO:0000269 PubMed:12815602, ECO:0000269 PubMed:1301198, ECO:0000269 PubMed:14635102, ECO:0000269 PubMed:15146473, ECO:0000269 PubMed:15365998, ECO:0000269 PubMed:15993874, ECO:0000269 PubMed:16205833, ECO:0000269 PubMed:21240075, ECO:0000269 PubMed:21520339, ECO:0000269 PubMed:7506602, ECO:0000269 PubMed:7564249, ECO:0000269 PubMed:7611293, ECO:0000269 PubMed:7635485, ECO:0000269 PubMed:7762555, ECO:0000269 PubMed:7849717, ECO:0000269 PubMed:7967489, ECO:0000269 PubMed:7981678, ECO:0000269 PubMed:8353501, ECO:0000269 PubMed:8528202, ECO:0000269 PubMed:8755636, ECO:0000269 PubMed:8803779, ECO:0000269 PubMed:8990018, ECO:0000269 PubMed:9156316, ECO:0000269 PubMed:9266356, ECO:0000269 PubMed:9361025, ECO:0000269 PubMed:9889017}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(64) Novoseek inferred disease relationships for CBS Gene

Disease -log(P) Hits PubMed IDs
homocystinuria 97.4 143
hyperhomocysteinemia 91.9 63
hypermethioninemia 85.8 3
ectopia lentis 81.5 2
homocysteinemia 81.4 6

Genatlas disease for CBS Gene

homocystinuria,pyridoxine responsive or not responsive forms,neural tube defect,no evidence of association with NTD in Netherlands and U.K.,interacting with huntingtin

Relevant External Links for CBS

GeneTests
CBS
GeneReviews
CBS
Genetic Association Database (GAD)
CBS
Human Genome Epidemiology (HuGE) Navigator
CBS
genes like me logo Genes that share disorders with CBS: view

Publications for CBS Gene

  1. The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype. (PMID: 15365998) Linnebank M. … Koch H.G. (Hum. Mutat. 2004) 3 4 23 25 48
  2. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. (PMID: 7611293) Shih V.E. … Ramesh V. (Am. J. Hum. Genet. 1995) 3 4 23 48
  3. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PMID: 9790750) Kraus J.P. … Kozich V. (Genomics 1998) 2 3 4 23
  4. 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. (PMID: 12173932) Taoka S. … Banerjee R. (Biochemistry 2002) 3 4 23 25
  5. Plasma homocysteine, MTHFR C677T, CBS 844ins68bp, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections. (PMID: 15503105) Konrad C. … Junker R. (J. Neurol. 2004) 3 23 48

Products for CBS Gene

Sources for CBS Gene

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