Cbs cystathionine beta synthase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Cbsprovided by RGD
Official Full Name: cystathionine beta synthaseprovided by RGD
Primary source: RGD:2287
See related: Ensembl:ENSRNOG00000029528 AllianceGenome:RGD:2287
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Enables cystathionine beta-synthase activity. Involved in several processes, including cellular response to hypoxia; hydrogen sulfide biosynthetic process; and transsulfuration. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Biomarker of hyperhomocysteinemia and vitamin B12 deficiency. Human ortholog(s) of this gene implicated in coronary artery disease; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Liver (RPKM 535.9), Kidney (RPKM 374.0) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: 20p12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	20	NC_086038.1 (9709394..9733925, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	20	NC_051355.1 (9708089..9732623, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	20	NC_005119.4 (10361987..10386663, complement)

Chromosome 20 - NC_086038.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Role of Cystathionine-beta-Synthase, H2S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies.
Title: The Role of Cystathionine-β-Synthase, H(2)S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies.
Overproduction of hydrogen sulfide, generated by cystathionine beta-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome.
Title: Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome.
Cysteine becomes conditionally essential during hypobaric hypoxia and regulates adaptive neuro-physiological responses through CBS/H2S pathway.
Title: Cysteine becomes conditionally essential during hypobaric hypoxia and regulates adaptive neuro-physiological responses through CBS/H(2)S pathway.
These findings indicate that decreased liver Bhmt and Cbs-mediated homocysteine metabolism might have a role in hyperhomocysteinemia in polycystic ovary syndrome and provides further evidence for a potential role of decreased liver function in PCOS.
Title: Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine β-synthase-mediated homocysteine metabolism.
cystathionine-beta-synthase might be a potential target for treatment for chronic visceral hypersensitivity in patients with irritable bowel syndrome.
Title: Prenatal maternal stress induces visceral hypersensitivity of adult rat offspring through activation of cystathionine-β-synthase signaling in primary sensory neurons.
Nitration-mediated deficiency of cystathionine beta-synthase activity accelerates the progression of hyperhomocysteinemia.
Title: Nitration-mediated deficiency of cystathionine β-synthase activity accelerates the progression of hyperhomocysteinemia.
Abundant expression of CBS, localized in renal tubular epithelial cells, was revealed in human and rat renal tissue, which correlated negatively with the progression of fibrotic disease.
Title: Loss of the Protein Cystathionine β-Synthase During Kidney Injury Promotes Renal Tubulointerstitial Fibrosis.
of CBS activity by O-(Carboxymethyl) hydroxylamine hemihydrochloride (AOAA) significantly attenuated pain hypersensitivity in lumbar disc herniation rats.
Title: Inhibition of cystathionine β-synthetase suppresses sodium channel activities of dorsal root ganglion neurons of rats with lumbar disc herniation.
These results demonstrated that oxygenglucose deprivation induced endoplasmic reticulum stress through the activation of nNOS/NO/AMPK signaling as a result of CBS/H2S system blockage.
Title: Excessive nNOS/NO/AMPK signaling activation mediated by the blockage of the CBS/H2S system contributes to oxygen‑glucose deprivation‑induced endoplasmic reticulum stress in PC12 cells.
The results of this study suggested that neonatal HI brain injury may inflict long-term damage by upregulation of CBS and mTOR signaling.
Title: Upregulation of cystathionine β-synthase and p70S6K/S6 in neonatal hypoxic ischemic brain injury.

Submit: New GeneRIF Correction See all GeneRIFs (30)

General gene information

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Markers

Cbs (e-PCR), detects polymorphism
- UniSTS:259589

RH94498 (e-PCR)
- UniSTS:119746

Cbs (e-PCR), detects polymorphism
- UniSTS:259051

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables S-adenosyl-L-methionine binding	ISO Inferred from Sequence Orthology more info
enables carbon monoxide binding	ISO Inferred from Sequence Orthology more info
enables cystathionine beta-synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables cystathionine beta-synthase activity	IEA Inferred from Electronic Annotation more info
enables cystathionine beta-synthase activity	ISO Inferred from Sequence Orthology more info
enables cystathionine beta-synthase activity	TAS Traceable Author Statement more info	PubMed
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables heme binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables modified amino acid binding	ISO Inferred from Sequence Orthology more info
enables nitric oxide binding	ISO Inferred from Sequence Orthology more info
enables nitrite reductase (NO-forming) activity	ISO Inferred from Sequence Orthology more info
enables oxygen binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables pyridoxal phosphate binding	ISO Inferred from Sequence Orthology more info
enables pyridoxal phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables pyridoxal phosphate binding	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA protection	ISO Inferred from Sequence Orthology more info
involved_in L-cysteine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-serine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-serine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-serine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within blood vessel diameter maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel remodeling	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cerebellum morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cysteine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cysteine biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in cysteine biosynthetic process from serine	IBA Inferred from Biological aspect of Ancestor more info
involved_in cysteine biosynthetic process from serine	IEA Inferred from Electronic Annotation more info
involved_in cysteine biosynthetic process via cystathionine	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within endochondral ossification	ISO Inferred from Sequence Orthology more info
involved_in homocysteine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine catabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within homocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in hydrogen sulfide biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in hydrogen sulfide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maternal process involved in female pregnancy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of nitric oxide mediated signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to folic acid	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient levels	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within superoxide metabolic process	ISO Inferred from Sequence Orthology more info
involved_in transsulfuration	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: cystathionine beta-synthase

Names: beta-thionase; hemoprotein H-450; serine sulfhydrase

NP_036654.2

EC 4.2.1.22

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012522.2 → NP_036654.2 cystathionine beta-synthase

See identical proteins and their annotated locations for NP_036654.2

Status: VALIDATED

Source sequence(s)

AA997754, D01098, M88344, M88345, M88346

UniProtKB/Swiss-Prot

P32232

UniProtKB/TrEMBL

A6JK04, A6JK05

Related

ENSRNOP00000042958.3, ENSRNOT00000045275.6

Conserved Domains (3) summary

cd01561
Location:82 → 380

CBS_like; CBS_like: This subgroup includes Cystathionine beta-synthase (CBS) and Cysteine synthase. CBS is a unique heme-containing enzyme that catalyzes a pyridoxal 5'-phosphate (PLP)-dependent condensation of serine and homocysteine to give cystathionine. ...

cd04608
Location:415 → 539

CBS_pair_PALP_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the pyridoxal-phosphate (PALP) dependent enzyme domain upstream. The vitamin B6 complex comprises pyridoxine, pyridoxal, and pyridoxamine, as well ...

TIGR01137
Location:73 → 540

cysta_beta; cystathionine beta-synthase