Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CBS (cystathionine-beta-synthase)

Identity

Other namesHIP4
HGNC (Hugo) CBS
LocusID (NCBI) 875
Location 21q22.3
Location_base_pair Starts at 44473301 and ends at 44496040 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)CBS   1550
Cards
Entrez_Gene (NCBI)CBS  875  cystathionine-beta-synthase
GeneCards (Weizmann)CBS
Ensembl (Hinxton)ENSG00000160200 [Gene_View]  chr21:44473301-44496040 [Contig_View]  CBS [Vega]
ICGC DataPortalENSG00000160200
cBioPortalCBS
AceView (NCBI)CBS
Genatlas (Paris)CBS
WikiGenes875
SOURCE (Princeton)NM_000071 NM_001178008 NM_001178009
Genomic and cartography
GoldenPath (UCSC)CBS  -  21q22.3   chr21:44473301-44496040 -  21q22.3   [Description]    (hg19-Feb_2009)
EnsemblCBS - 21q22.3 [CytoView]
Mapping of homologs : NCBICBS [Mapview]
OMIM236200   613381   
Gene and transcription
Genbank (Entrez)AK294608 AK301063 AK313691 AL137314 AL531222
RefSeq transcript (Entrez)NM_000071 NM_001178008 NM_001178009
RefSeq genomic (Entrez)AC_000153 NC_000021 NC_018932 NG_008938 NT_011512 NW_001838715 NW_004929427
Consensus coding sequences : CCDS (NCBI)CBS
Cluster EST : UnigeneHs.533013 [ NCBI ]
CGAP (NCI)Hs.533013
Alternative Splicing : Fast-db (Paris)GSHG0019738
Alternative Splicing GalleryENSG00000160200
Gene ExpressionCBS [ NCBI-GEO ]     CBS [ SEEK ]   CBS [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35520 (Uniprot)
NextProtP35520  [Medical]
With graphics : InterProP35520
Splice isoforms : SwissVarP35520 (Swissvar)
Catalytic activity : Enzyme4.2.1.22 [ Enzyme-Expasy ]   4.2.1.224.2.1.22 [ IntEnz-EBI ]   4.2.1.22 [ BRENDA ]   4.2.1.22 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CBS (PS51371)    CYS_SYNTHASE (PS00901)   
Domains : Interpro (EBI)CBS_dom [organisation]   Cys_synth_BS [organisation]   Cysta_beta_synth [organisation]   Trp_syn_b_sub_like_PLP_eny_SF [organisation]  
Related proteins : CluSTrP35520
Domain families : Pfam (Sanger)CBS (PF00571)    PALP (PF00291)   
Domain families : Pfam (NCBI)pfam00571    pfam00291   
Domain families : Smart (EMBL)CBS (SM00116)  
DMDM Disease mutations875
Blocks (Seattle)P35520
PDB (SRS)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V   
PDB (PDBSum)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V   
PDB (IMB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V   
PDB (RSDB)1JBQ    1M54    4COO    4L0D    4L27    4L28    4L3V   
Human Protein AtlasENSG00000160200 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP35520
HPRD01994
IPIIPI00219352   IPI00219649   IPI01012205   IPI01013547   IPI00930086   IPI00794609   IPI00792672   IPI00795559   
Protein Interaction databases
DIP (DOE-UCLA)P35520
IntAct (EBI)P35520
FunCoupENSG00000160200
BioGRIDCBS
InParanoidP35520
Interologous Interaction database P35520
IntegromeDBCBS
STRING (EMBL)CBS
Ontologies - Pathways
Ontology : AmiGOsulfur amino acid metabolic process  endochondral ossification  blood vessel remodeling  cystathionine beta-synthase activity  cystathionine beta-synthase activity  protein binding  nucleus  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  superoxide metabolic process  cysteine biosynthetic process via cystathionine  transsulfuration  L-cysteine catabolic process  enzyme binding  heme binding  heme binding  cerebellum morphogenesis  pyridoxal phosphate binding  adenyl nucleotide binding  regulation of cGMP metabolic process  ubiquitin protein ligase binding  cellular nitrogen compound metabolic process  identical protein binding  protein homodimerization activity  negative regulation of apoptotic process  homocysteine catabolic process  regulation of JUN kinase activity  small molecule metabolic process  metal ion binding  homocysteine metabolic process  regulation of blood vessel size  response to folic acid  maternal process involved in female pregnancy  cartilage development involved in endochondral bone morphogenesis  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  cellular response to hypoxia  modified amino acid binding  
Ontology : EGO-EBIsulfur amino acid metabolic process  endochondral ossification  blood vessel remodeling  cystathionine beta-synthase activity  cystathionine beta-synthase activity  protein binding  nucleus  cytosol  cytosol  cysteine biosynthetic process from serine  L-serine metabolic process  L-serine catabolic process  superoxide metabolic process  cysteine biosynthetic process via cystathionine  transsulfuration  L-cysteine catabolic process  enzyme binding  heme binding  heme binding  cerebellum morphogenesis  pyridoxal phosphate binding  adenyl nucleotide binding  regulation of cGMP metabolic process  ubiquitin protein ligase binding  cellular nitrogen compound metabolic process  identical protein binding  protein homodimerization activity  negative regulation of apoptotic process  homocysteine catabolic process  regulation of JUN kinase activity  small molecule metabolic process  metal ion binding  homocysteine metabolic process  regulation of blood vessel size  response to folic acid  maternal process involved in female pregnancy  cartilage development involved in endochondral bone morphogenesis  hydrogen sulfide biosynthetic process  hydrogen sulfide biosynthetic process  cellular response to hypoxia  modified amino acid binding  
Pathways : KEGGGlycine, serine and threonine metabolism    Cysteine and methionine metabolism   
Protein Interaction DatabaseCBS
Wikipedia pathwaysCBS
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CBS
snp3D : Map Gene to Disease875
SNP (GeneSNP Utah)CBS
SNP : HGBaseCBS
Genetic variants : HAPMAPCBS
Exome VariantCBS
1000_GenomesCBS 
ICGC programENSG00000160200 
Somatic Mutations in Cancer : COSMICCBS 
CONAN: Copy Number AnalysisCBS 
Mutations and Diseases : HGMDCBS
Mutations and Diseases : intOGenCBS
Genomic VariantsCBS  CBS [DGVbeta]
dbVarCBS
ClinVarCBS
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM236200    613381   
MedgenCBS
GENETestsCBS
Disease Genetic AssociationCBS
Huge Navigator CBS [HugePedia]  CBS [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCBS
Homology/Alignments : Family Browser (UCSC)CBS
Phylogenetic Trees/Animal Genes : TreeFamCBS
Chemical/Protein Interactions : CTD875
Chemical/Pharm GKB GenePA26123
Clinical trialCBS
Cancer Resource (Charite)ENSG00000160200
Other databases
Probes
Litterature
PubMed294 Pubmed reference(s) in Entrez
CoreMineCBS
iHOPCBS
OncoSearchCBS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 22 18:42:35 CEST 2014

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