CBS

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (liver)
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Selective expression in liver, hepatocytes and CNS.

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Supportive based on 1 antibody.
HPA001223
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
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
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

875

UniProt

P35520 (UniProt - Evidence at protein level)

neXtProt

NX_P35520

Antibodypedia

CBS antibodies


PROTEIN BROWSER

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ENST00000352178
 
ENST00000359624
 
ENST00000398158
 
ENST00000398165
 
ENST00000430013
 
ENST00000441030
 
ENST00000451248
 
ENST00000458223
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CBS-001 ENSP00000344460
ENST00000352178
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-002 ENSP00000352643
ENST00000359624
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-003 ENSP00000381231
ENST00000398165
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-004 ENSP00000381225
ENST00000398158
P35520
Show all »
Show » Show » 551 60.6 No 0
CBS-007 ENSP00000388235
ENST00000441030
C9JMA6
Show all »
Show » Show » 177 19.1 No 0
CBS-014 ENSP00000405929
ENST00000430013
Show » 224 24.6 No 0
CBS-015 ENSP00000408014
ENST00000458223
Show » 159 16.9 No 0
CBS-016 ENSP00000402823
ENST00000451248
Show » 149 16 No 0