CBS (cystathionine-beta-synthase)

Identity

Other names	HIP4
HGNC	CBS
Location	21q22.3
Location_base_pair	Starts at 43346370 and ends at 43369493 bp from pter ( according to hg18-March_2006).
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

External links

	Nomenclature
HGNC	CBS   1550
Entrez_Gene	CBS  875  cystathionine-beta-synthase
	Cards
GeneCards	CBS
Ensembl	CBS [Search_View]   ENSG00000160200 [Gene_View]
Genatlas	CBS
GeneLynx	CBS
eGenome	CBS
euGene	875
	Genomic and cartography
GoldenPath	CBS  -  21q22.3   chr21:43346370-43369493 -  21q22.3   [Description]    (hg18-March_2006)
Ensembl	CBS - 21q22.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	CBS
	Gene and transcription
Genbank	AK313691 [ ENTREZ ]
Genbank	AL137314 [ ENTREZ ]
Genbank	BC000440 [ ENTREZ ]
Genbank	BC007257 [ ENTREZ ]
Genbank	BC010242 [ ENTREZ ]
RefSeq	NM_000071 [ SRS ]    NM_000071 [ ENTREZ ]
RefSeq	AC_000064 [ SRS ]    AC_000064 [ ENTREZ ]
RefSeq	AC_000153 [ SRS ]    AC_000153 [ ENTREZ ]
RefSeq	NC_000021 [ SRS ]    NC_000021 [ ENTREZ ]
RefSeq	NT_030188 [ SRS ]    NT_030188 [ ENTREZ ]
RefSeq	NW_001838715 [ SRS ]    NW_001838715 [ ENTREZ ]
RefSeq	NW_927384 [ SRS ]    NW_927384 [ ENTREZ ]
AceView	CBS AceView - NCBI
Unigene	Hs.533013 [ SRS ]    Hs.533013 [ NCBI ]     HS533013 [ spliceNest ]
Fast-db	3681 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	P35520 [ SRS]    P35520 [ EXPASY ]     P35520 [ INTERPRO ]     P35520 [ UNIPROT ]
Prosite	PS51371 CBS [ SRS ]    PS51371 CBS [ Expasy ]
Prosite	PS00901 CYS_SYNTHASE [ SRS ]    PS00901 CYS_SYNTHASE [ Expasy ]
Interpro	IPR001216 Cys_synth_BS [ SRS ]    IPR001216 Cys_synth_BS [ EBI ]
Interpro	IPR005857 Cysta_beta_synth [ SRS ]    IPR005857 Cysta_beta_synth [ EBI ]
Interpro	IPR000644 Cysta_beta_synth_core [ SRS ]    IPR000644 Cysta_beta_synth_core [ EBI ]
Interpro	IPR001926 PyrdxlP-dep_enz_bsu [ SRS ]    IPR001926 PyrdxlP-dep_enz_bsu [ EBI ]
CluSTr	P35520
Pfam	PF00571 CBS [ SRS ]    PF00571 CBS [ Sanger ]    pfam00571 [ NCBI-CDD ]
Pfam	PF00291 PALP [ SRS ]    PF00291 PALP [ Sanger ]    pfam00291 [ NCBI-CDD ]
Smart	SM00116 CBS [EMBL]
Blocks	P35520
PDB	1JBQ [ SRS ]    1JBQ [ PdbSum ],   1JBQ [ IMB ]   1JBQ [ RSDB ]
PDB	1M54 [ SRS ]    1M54 [ PdbSum ],   1M54 [ IMB ]   1M54 [ RSDB ]
HPRD	01994
	Protein Interaction databases
DIP	P35520
IntAct	P35520
	Polymorphism : SNP, mutations, diseases
OMIM	236200    [ map ]
GENECLINICS	236200
SNP	CBS [dbSNP-NCBI]
SNP	NM_000071 [SNP-NCI]
SNP	CBS [GeneSNPs - Utah]  CBS] [HGBASE - SRS]
HAPMAP	CBS [HAPMAP]
HGMD	CBS
	General knowledge
Family Browser	CBS [UCSC Family Browser]
SOURCE	NM_000071
SMD	Hs.533013
SAGE	Hs.533013
Enzyme	4.2.1.22 [ Enzyme-Expasy ]   4.2.1.22 [ Enzyme-SRS ]   4.2.1.22 [ IntEnz-EBI ]   4.2.1.22 [ BRENDA ]   4.2.1.22 [ KEGG ]   4.2.1.22 [ WIT ]
GO	cystathionine beta-synthase activity [Amigo]  cystathionine beta-synthase activity
GO	iron ion binding [Amigo]  iron ion binding
GO	nucleus [Amigo]  nucleus
GO	cytoplasm [Amigo]  cytoplasm
GO	cysteine biosynthetic process from serine [Amigo]  cysteine biosynthetic process from serine
GO	metabolic process [Amigo]  metabolic process
GO	amino acid biosynthetic process [Amigo]  amino acid biosynthetic process
GO	lyase activity [Amigo]  lyase activity
GO	cysteine biosynthetic process via cystathionine [Amigo]  cysteine biosynthetic process via cystathionine
GO	pyridoxal phosphate binding [Amigo]  pyridoxal phosphate binding
GO	metal ion binding [Amigo]  metal ion binding
BIOCARTA	Catabolic s for Methionine, Isoleucine, Threonine and Valine    [Genes]
KEGG	Glycine, serine and threonine metabolism
KEGG	Methionine metabolism
KEGG	Selenoamino acid metabolism
KEGG	Huntington's disease
PubGene	CBS
TreeFam	CBS
CTD	875 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	CBS Related clones (RZPD - Berlin)
	PubMed
PubMed	150 Pubmed reference(s) in Entrez

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	09-2002	Dessen P, Le Minor S
Updated	03-2008	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 18 14:33:41 2008