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CBS

GENERAL INFORMATION

Gene name

 CBS

Gene description

 Cystathionine-beta-synthase

Protein class

 Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 8
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (liver, ovary)
GTEx:Expressed in all
FANTOM5:Tissue enhanced (pancreas, cerebellum)

Protein evidence

 Evidence at protein level

Protein expression

 Selective expression in liver, hepatocytes and CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Caution, targets protein from more than one gene.

Reliability score

 Supported based on 1 antibody.
HPA001223
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Nasopharynx
N/A
N/A
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (liver, ovary)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (pancreas, cerebellum)

GENE INFORMATION

Gene name

 CBS (HGNC Symbol)

Synonyms

 HIP4

Description

 Cystathionine-beta-synthase (HGNC Symbol)

Entrez gene summary

 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]

Chromosome

 21

Cytoband

 q22.3

Chromosome location (bp)

 43053191 - 43076943

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000160200 (version 83.38)

Entrez gene

 875

UniProt

 P35520 (UniProt - Evidence at protein level)

neXtProt

 NX_P35520

Antibodypedia

 CBS antibodies

PROTEIN BROWSER
CBS-001
CBS-002
CBS-003
CBS-004
CBS-007
CBS-014
CBS-015
CBS-016

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
CBS-001
ENSP00000344460
ENST00000352178
P35520 [Direct mapping]
Cystathionine beta-synthase
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0004122 [cystathionine beta-synthase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006535 [cysteine biosynthetic process from serine]
GO:0006563 [L-serine metabolic process]
GO:0006565 [L-serine catabolic process]
GO:0019343 [cysteine biosynthetic process via cystathionine]
GO:0019344 [cysteine biosynthetic process]
GO:0019346 [transsulfuration]
GO:0019448 [L-cysteine catabolic process]
GO:0019825 [oxygen binding]
GO:0019899 [enzyme binding]
GO:0020037 [heme binding]
GO:0030170 [pyridoxal phosphate binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042262 [DNA protection]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043418 [homocysteine catabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0050667 [homocysteine metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070025 [carbon monoxide binding]
GO:0070026 [nitric oxide binding]
GO:0070814 [hydrogen sulfide biosynthetic process]
GO:0072341 [modified amino acid binding]
GO:1904047 [S-adenosyl-L-methionine binding]
Show all
 551 aa
60.6 kDa 		No 0
CBS-002
ENSP00000352643
ENST00000359624
P35520 [Direct mapping]
Cystathionine beta-synthase
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0004122 [cystathionine beta-synthase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006535 [cysteine biosynthetic process from serine]
GO:0006563 [L-serine metabolic process]
GO:0006565 [L-serine catabolic process]
GO:0019343 [cysteine biosynthetic process via cystathionine]
GO:0019344 [cysteine biosynthetic process]
GO:0019346 [transsulfuration]
GO:0019448 [L-cysteine catabolic process]
GO:0019825 [oxygen binding]
GO:0019899 [enzyme binding]
GO:0020037 [heme binding]
GO:0030170 [pyridoxal phosphate binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042262 [DNA protection]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043418 [homocysteine catabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0050667 [homocysteine metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070025 [carbon monoxide binding]
GO:0070026 [nitric oxide binding]
GO:0070814 [hydrogen sulfide biosynthetic process]
GO:0072341 [modified amino acid binding]
GO:1904047 [S-adenosyl-L-methionine binding]
Show all
 551 aa
60.6 kDa 		No 0
CBS-003
ENSP00000381231
ENST00000398165
P35520 [Direct mapping]
Cystathionine beta-synthase
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0004122 [cystathionine beta-synthase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006535 [cysteine biosynthetic process from serine]
GO:0006563 [L-serine metabolic process]
GO:0006565 [L-serine catabolic process]
GO:0019343 [cysteine biosynthetic process via cystathionine]
GO:0019344 [cysteine biosynthetic process]
GO:0019346 [transsulfuration]
GO:0019448 [L-cysteine catabolic process]
GO:0019825 [oxygen binding]
GO:0019899 [enzyme binding]
GO:0020037 [heme binding]
GO:0030170 [pyridoxal phosphate binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042262 [DNA protection]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043418 [homocysteine catabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0050667 [homocysteine metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070025 [carbon monoxide binding]
GO:0070026 [nitric oxide binding]
GO:0070814 [hydrogen sulfide biosynthetic process]
GO:0072341 [modified amino acid binding]
GO:1904047 [S-adenosyl-L-methionine binding]
Show all
 551 aa
60.6 kDa 		No 0
CBS-004
ENSP00000381225
ENST00000398158
P35520 [Direct mapping]
Cystathionine beta-synthase
Show all
Enzymes
   ENZYME proteins
   Lyases
Predicted intracellular proteins
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000096 [sulfur amino acid metabolic process]
GO:0004122 [cystathionine beta-synthase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005730 [nucleolus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006535 [cysteine biosynthetic process from serine]
GO:0006563 [L-serine metabolic process]
GO:0006565 [L-serine catabolic process]
GO:0019343 [cysteine biosynthetic process via cystathionine]
GO:0019344 [cysteine biosynthetic process]
GO:0019346 [transsulfuration]
GO:0019448 [L-cysteine catabolic process]
GO:0019825 [oxygen binding]
GO:0019899 [enzyme binding]
GO:0020037 [heme binding]
GO:0030170 [pyridoxal phosphate binding]
GO:0031625 [ubiquitin protein ligase binding]
GO:0034641 [cellular nitrogen compound metabolic process]
GO:0042262 [DNA protection]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043418 [homocysteine catabolic process]
GO:0044281 [small molecule metabolic process]
GO:0046872 [metal ion binding]
GO:0050421 [nitrite reductase (NO-forming) activity]
GO:0050667 [homocysteine metabolic process]
GO:0055114 [oxidation-reduction process]
GO:0070025 [carbon monoxide binding]
GO:0070026 [nitric oxide binding]
GO:0070814 [hydrogen sulfide biosynthetic process]
GO:0072341 [modified amino acid binding]
GO:1904047 [S-adenosyl-L-methionine binding]
Show all
 551 aa
60.6 kDa 		No 0
CBS-007
ENSP00000388235
ENST00000441030
C9JMA6 [Direct mapping]
Cystathionine beta-synthase
Show all
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0006535 [cysteine biosynthetic process from serine]
GO:0019343 [cysteine biosynthetic process via cystathionine]
Show all
 177 aa
19.1 kDa 		No 0
CBS-014
ENSP00000405929
ENST00000430013
H7C2H4 [Direct mapping]
Cystathionine beta-synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0019343 [cysteine biosynthetic process via cystathionine]
Show all
 224 aa
24.6 kDa 		No 0
CBS-015
ENSP00000408014
ENST00000458223
H7C2W0 [Direct mapping]
Cystathionine beta-synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0019343 [cysteine biosynthetic process via cystathionine]
Show all
 159 aa
16.9 kDa 		No 0
CBS-016
ENSP00000402823
ENST00000451248
H7C1W6 [Direct mapping]
Cystathionine beta-synthase
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005737 [cytoplasm]
GO:0019343 [cysteine biosynthetic process via cystathionine]
Show all
 149 aa
16 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.