CBS - cystathionine beta-synthase Gene
Also Known as CBSL; HIP4
Species: Homo sapiens
About CBS
This gene has 17 transcripts (splice variants), 277 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 30.2), brain (RPKM 11.6) and 6 other tissues.
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. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
CBS Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000071.3 | NP_000062.1 | cystathionine beta-synthase isoform 1 |
| NM_001178008.3 | NP_001171479.1 | cystathionine beta-synthase isoform 1 |
| NM_001178009.3 | NP_001171480.1 | cystathionine beta-synthase isoform 1 |
| NM_001320298.2 | NP_001307227.1 | cystathionine beta-synthase isoform 1 |
| NM_001321072.1 | NP_001308001.1 | cystathionine beta-synthase isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables S-adenosyl-L-methionine binding |
IDA
IDA: Inferred from direct assay
|
22985361 | GOA |
| enables carbon monoxide binding |
IDA
IDA: Inferred from direct assay
|
24515102 | GOA |
| enables cystathionine beta-synthase activity |
IDA
IDA: Inferred from direct assay
|
7929220 | GOA |
| enables enzyme binding |
IPI
IPI: Inferred from physical interaction
|
17087506 | GOA |
| enables heme binding |
EXP
EXP: Inferred from Experiment
|
29410458 | GOA |
| enables heme binding |
IDA
IDA: Inferred from direct assay
|
7929220 | GOA |
| enables heme binding |
IMP
IMP: Inferred from mutant phenotype
|
18776696 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables modified amino acid binding |
IDA
IDA: Inferred from direct assay
|
20031578 | GOA |
| enables nitric oxide binding |
IDA
IDA: Inferred from direct assay
|
24416422 | GOA |
| enables nitrite reductase (NO-forming) activity |
IDA
IDA: Inferred from direct assay
|
24416422 | GOA |
| enables oxygen binding |
IDA
IDA: Inferred from direct assay
|
24515102 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16189514 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
11483494 | GOA |
| enables pyridoxal phosphate binding |
IDA
IDA: Inferred from direct assay
|
7929220 | GOA |
| enables ubiquitin protein ligase binding |
IPI
IPI: Inferred from physical interaction
|
17087506 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in DNA protection |
IMP
IMP: Inferred from mutant phenotype
|
24534463 | GOA |
| involved in L-cysteine catabolic process |
IDA
IDA: Inferred from direct assay
|
15520012 | GOA |
| involved in L-serine catabolic process |
IDA
IDA: Inferred from direct assay
|
18776696 | GOA |
| involved in L-serine metabolic process |
IDA
IDA: Inferred from direct assay
|
19010420 | GOA |
| involved in cysteine biosynthetic process |
IDA
IDA: Inferred from direct assay
|
24416422 | GOA |
| involved in homocysteine catabolic process |
IDA
IDA: Inferred from direct assay
|
18776696 | GOA |
| involved in homocysteine metabolic process |
IDA
IDA: Inferred from direct assay
|
19010420 | GOA |
| involved in hydrogen sulfide biosynthetic process |
IDA
IDA: Inferred from direct assay
|
15520012 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
23981774 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
17087506 | GOA |
CBS Protein Structure
PALP: Pyridoxal-phosphate dependent enzyme (83 - 376)
CBS: CBS domain (422 - 469)
- 0
- 100
- 200
- 300
- 400
- 500
- 551 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cystathionine beta-synthase |
|
CBS Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CBS | P35520 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
CBS | P35520 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
CBS | P35520 | UBE2I | Homo sapiens | Q7KZS0 | 25416956 | |
|
Intra
|
CBS | P35520 | UBE2I | Homo sapiens | Q7KZS0 | 32296183 | |
|
Intra
|
CBS | P35520 | PRKAG1 | Homo sapiens | P54619 | 25416956 | |
|
Intra
|
CBS | P35520 | PRKAG1 | Homo sapiens | P54619 | 25416956 | |
|
Intra
|
CBS | P35520 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
CBS | P35520 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
CBS | P35520 | CAMK2A | Homo sapiens | Q9UQM7 | 32814053 | |
|
Intra
|
CBS | P35520 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
CBS | P35520 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
CBS | P35520 | ZMYM5 | Homo sapiens | Q9UJ78-2 | 32296183 | |
|
Intra
|
CBS | P35520 | KAT5 | Homo sapiens | Q92993-2 | 32814053 | |
|
Intra
|
CBS | P35520 | KAT5 | Homo sapiens | Q92993-2 | 32814053 | |
|
Intra
|
CBS | P35520 | KAT5 | Homo sapiens | Q92993-2 | 32814053 | |
|
Intra
|
CBS | P35520 | UBASH3A | Homo sapiens | P57075 | 25416956 | |
|
Intra
|
CBS | P35520 | UBASH3A | Homo sapiens | P57075 | 25416956 | |
|
Intra
|
CBS | P35520 | EHHADH | Homo sapiens | Q08426 | 25416956 | |
|
Intra
|
CBS | P35520 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
CBS | P35520 | PIAS2 | Homo sapiens | O75928-2 | 32296183 | |
|
Intra
|
CBS | P35520 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBS | P35520 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBS | P35520 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
CBS | P35520 | PRKACA | Homo sapiens | P17612 | 32814053 | |
|
Intra
|
CBS | P35520 | PRKACA | Homo sapiens | P17612 | 32814053 | |
|
Intra
|
CBS | P35520 | PRKACA | Homo sapiens | P17612 | 32814053 | |
|
Intra
|
CBS | P35520 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CBS | P35520 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CBS | P35520 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CBS | P35520 | FYN | Homo sapiens | P06241 | 32814053 | |
|
Intra
|
CBS | P35520 | FYN | Homo sapiens | P06241 | 32814053 | |
|
Intra
|
CBS | P35520 | FYN | Homo sapiens | P06241 | 32814053 | |
|
Intra
|
CBS | P35520 | GAL | Homo sapiens | P22466 | 32814053 | |
|
Intra
|
CBS | P35520 | GAL | Homo sapiens | P22466 | 32814053 | |
|
Intra
|
CBS | P35520 | GAL | Homo sapiens | P22466 | 32814053 | |
|
Intra
|
CBS | P35520 | PIN1 | Homo sapiens | Q13526 | 25416956 | |
|
Intra
|
CBS | P35520 | PIN1 | Homo sapiens | Q13526 | 25416956 | |
|
Intra
|
CBS | P35520 | FXR2 | Homo sapiens | P51116 | 21653829 | |
|
Intra
|
CBS | P35520 | FXR2 | Homo sapiens | P51116 | 16189514 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 31515488 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 25416956 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 25502805 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 21900206 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 16189514 | |
|
Intra
|
CBS | P35520 | CBS | Homo sapiens | P35520 | 19447967 | |
|
Intra
|
CBS | P35520 | CYTH1 | Homo sapiens | Q15438 | 32814053 | |
|
Intra
|
CBS | P35520 | CYTH1 | Homo sapiens | Q15438 | 32814053 | |
|
Intra
|
CBS | P35520 | CYTH1 | Homo sapiens | Q15438 | 32814053 |
Recombinant CBS Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P72118 | CBS Protein, Human (His) | P35520 (P2-K551) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
|
| Homocystinuria Caused By Cystathionine Beta-Synthase Deficiency |
|
|
| Homocystinuria |
|
|
| Hypermethioninemia |
|
|
| Hyperhomocysteinemia |
|
|
| Ideomotor Apraxia |
|
|
| Pyridoxine Deficiency |
|
|
| Isolated Ectopia Lentis |
|
|
| Neural Tube Defects |
|
|
| Writing Disorder |
|
|
| Tinea Nigra |
|
|
| Gerstmann Syndrome |
|
|
| Dysgraphia |
|
|
| Vascular Disease |
|
|
| Methionine Adenosyltransferase I/Iii Deficiency |
|
|
| Astereognosia |
|
|
| Myelomeningocele |
|
|
| Speech And Communication Disorders |
|
|
| Marfan Syndrome |
|
|
| Cerebrovascular Disease |
|
|
| Amino Acid Metabolic Disorder |
|
|
| Homocysteinemia |
|
|
| Glycine N-Methyltransferase Deficiency |
|
|
| Malt Worker'S Lung |
|
|
| Agraphia |
|
|
| Trigonitis |
|
|
| Dermatomycosis |
|
|
| Down Syndrome |
|
|
| Eumycotic Mycetoma |
|
|
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
|
| Trichosporonosis |
|
|
| Phaeohyphomycosis |
|
|
| External Ear Disease |
|
|
| Vascular Parkinsonism |
|
|
| Cystathioninuria |
|
|
| Tinea Corporis |
|
|
| Thrombophilia |
|
|
| Superficial Mycosis |
|
|
| Peripheral Vascular Disease |
|
|
| Otitis Externa |
|
|
| Otomycosis |
|
|
| Thrombosis |
|
|
| Nominal Aphasia |
|
|
| Vascular Dementia |
|
|
| Thrombophilia Due To Thrombin Defect |
|
|
| Alexia |
|
|
| Subcutaneous Mycosis |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Tinea Barbae |
|
|
| Visual Agnosia |
|
|
| Tinea Capitis |
|
|
| Anosognosia |
|
|
| White Piedra |
|
|
| Finger Agnosia |
|
|
| Cardiovascular System Disease |
|
|
| Malignant Hyperthermia |
|
|
| Tinea Unguium |
|
|
| Topographical Agnosia |
|
|
| Simultanagnosia |
|
|
| Dermatophytosis |
|
|
| Gait Apraxia |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Arteriosclerosis |
|
|
| Encephalopathy, Ethylmalonic |
|
|
| Sporotrichosis |
|
|
| Tinea Favosa |
|
|
| Conidiobolomycosis |
|
|
| Chromoblastomycosis |
|
|
| Tinea Cruris |
|
|
| Aphasia |
|
|
| Heart Disease |
|
|
| Dementia |
|
|
| Hypomagnesemia 6, Renal |
|
|
| Familial Hypercholesterolemia |
|
|
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
|
| Pityriasis Versicolor |
|
|
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
|
| Pancytopenia |
|
|
| Fusariosis |
|
|
| Tinea Manuum |
|
|
| Urethral Syndrome |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Stroke, Ischemic |
|
|
| Tinea Pedis |
|
|
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
|
| Pick Disease Of Brain |
|
|
| Dementia, Lewy Body |
|
|
| Cerebral Palsy |
|
|
| Myocardial Infarction |
|
|
| Lens Subluxation |
|
|
| Multiple System Atrophy 1 |
|
|
| Primary Systemic Mycosis |
|
|
| Fungal Infectious Disease |
|
|
| Pseudobulbar Palsy |
|
|
| Agnosia |
|
|
| Vitamin B12 Deficiency |
|
|
| Movement Disease |
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
|
| Methylmalonic Aciduria, Cbla Type |
|
|
| Vitamin Metabolic Disorder |
|
|
| Myopia |
|
|
| Specific Developmental Disorder |
|
|
| Myotonia Congenita |
|
|
| Normal Pressure Hydrocephalus |
|
|
| Speech Disorder |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Phenylketonuria |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Cataract |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Cortical Deafness |
|
|
| Methylmalonic Acidemia |
|
|
| Eye Disease |
|
|
| Frontotemporal Dementia |
|
|
| Galloway-Mowat Syndrome 1 |
|
|
| Lipid Metabolism Disorder |
|
|
| Hypertension, Essential |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Nervous System Disease |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CBS | RGD | RGD:2287 |
| Mus musculus | CBS | MGD | MGI:88285 |