Cbs cystathionine beta-synthase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cbsprovided by MGI
Official Full Name: cystathionine beta-synthaseprovided by MGI
Primary source: MGI:MGI:88285
See related: Ensembl:ENSMUSG00000024039 AllianceGenome:MGI:88285
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HIP4
Summary: Enables cystathionine beta-synthase activity. Acts upstream of or within several processes, including endochondral bone morphogenesis; regulation of intracellular signal transduction; and sulfur amino acid metabolic process. Predicted to be located in nucleus. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; connective tissue; nervous system; sensory organ; and skeleton. Used to study homocystinuria and hyperhomocysteinemia. Human ortholog(s) of this gene implicated in several diseases, including cerebral infarction; homocystinuria; hyperhomocysteinemia; malaria; and neural tube defect. Orthologous to human CBS (cystathionine beta-synthase). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in liver adult (RPKM 247.5), ovary adult (RPKM 58.2) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 B1; 17 16.93 cM

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (31831602..31856170, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (31612623..31637233, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
Title: Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
KLF10/CBS increases the sensitivity of gastric carcinoma cells to methionine restriction by promoting sulfur transfer pathway.
Title: KLF10/CBS increases the sensitivity of gastric carcinoma cells to methionine restriction by promoting sulfur transfer pathway.
A role for the cystathionine-beta-synthase /H2S axis in astrocyte dysfunction in the aging brain.
Title: A role for the cystathionine-β-synthase /H(2)S axis in astrocyte dysfunction in the aging brain.
Activating transcription factor (ATF) 6 upregulates cystathionine beta synthetase (CBS) expression and hydrogen sulfide (H2S) synthesis to ameliorate liver metabolic damage.
Title: Activating transcription factor (ATF) 6 upregulates cystathionine β synthetase (CBS) expression and hydrogen sulfide (H(2)S) synthesis to ameliorate liver metabolic damage.
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine beta-synthase-deficient mice.
Title: Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine β-synthase-deficient mice.
Cystine/Glutamate Xc[-] Antiporter Induction Compensates for Transsulfuration Pathway Repression by 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) to Ensure Cysteine for Hepatic Glutathione Biosynthesis.
Title: Cystine/Glutamate Xc(-) Antiporter Induction Compensates for Transsulfuration Pathway Repression by 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) to Ensure Cysteine for Hepatic Glutathione Biosynthesis.
Cystathionine beta-synthase gene inactivation dysregulates major urinary protein biogenesis and impairs sexual signaling in mice.
Title: Cystathionine β-synthase gene inactivation dysregulates major urinary protein biogenesis and impairs sexual signaling in mice.
Cystathionine beta-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3.
Title: Cystathionine β-synthase as novel endogenous regulator of lymphangiogenesis via modulating VEGF receptor 2 and 3.
Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Title: Derangement of hepatic polyamine, folate, and methionine cycle metabolism in cystathionine beta-synthase-deficient homocystinuria in the presence and absence of treatment: Possible implications for pathogenesis.
Analysis of differential neonatal lethality in cystathionine beta-synthase deficient mouse models using metabolic profiling.
Title: Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

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

NoName (e-PCR)
- UniSTS:237616

293E15-Sp6 (e-PCR), detects polymorphism
- UniSTS:140923

Cbs (e-PCR), detects polymorphism
- UniSTS:526035

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

AI047524 (e-PCR)
- UniSTS:180991

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables S-adenosyl-L-methionine binding	IEA Inferred from Electronic Annotation more info
enables S-adenosyl-L-methionine binding	ISO Inferred from Sequence Orthology more info
enables carbon monoxide binding	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
enables cystathionine beta-synthase activity	ISO Inferred from Sequence Orthology more info
enables cystathionine beta-synthase activity	ISS Inferred from Sequence or Structural Similarity more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables heme binding	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
enables modified amino acid binding	ISO Inferred from Sequence Orthology more info
enables nitric oxide binding	IEA Inferred from Electronic Annotation more info
enables nitric oxide binding	ISO Inferred from Sequence Orthology more info
enables nitrite reductase (NO-forming) activity	IEA Inferred from Electronic Annotation more info
enables nitrite reductase (NO-forming) activity	ISO Inferred from Sequence Orthology more info
enables oxygen binding	IEA Inferred from Electronic Annotation 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 ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA protection	IEA Inferred from Electronic Annotation more info
involved_in DNA protection	ISO Inferred from Sequence Orthology more info
involved_in L-cysteine catabolic process	IEA Inferred from Electronic Annotation more info
involved_in L-cysteine catabolic process	ISO Inferred from Sequence Orthology more info
involved_in L-serine catabolic process	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebellum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cysteine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homocysteine metabolic process	ISO Inferred from Sequence Orthology more info
involved_in homocysteine metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in hydrogen sulfide biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in hydrogen sulfide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within maternal process involved in female pregnancy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of nitric oxide mediated signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to folic acid	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within superoxide metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transsulfuration	IEA Inferred from Electronic Annotation more info
involved_in transsulfuration	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor 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 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; serine sulfhydrase

NP_001258282.1

EC 4.2.1.22

NP_001396941.1

EC 4.2.1.22

NP_001396942.1

EC 4.2.1.22

NP_659104.1

EC 4.2.1.22

NP_835742.1

EC 4.2.1.22

XP_006523612.1

EC 4.2.1.22

XP_006523614.1

EC 4.2.1.22

XP_036016174.1

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_001271353.2 → NP_001258282.1 cystathionine beta-synthase isoform 2

See identical proteins and their annotated locations for NP_001258282.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Both variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.

Source sequence(s)

AC090881, AC166575

Consensus CDS

CCDS28610.1

UniProtKB/Swiss-Prot

Q91WT9

Related

ENSMUSP00000113209.2, ENSMUST00000118504.9

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
NM_001410012.1 → NP_001396941.1 cystathionine beta-synthase isoform 1

Status: VALIDATED

Source sequence(s)

AC090881, AC166575

UniProtKB/Swiss-Prot

Q91WT9, Q91WU3

Related

ENSMUSP00000066878.7, ENSMUST00000067801.14
NM_001410013.1 → NP_001396942.1 cystathionine beta-synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC090881, AC166575
NM_144855.4 → NP_659104.1 cystathionine beta-synthase isoform 1

See identical proteins and their annotated locations for NP_659104.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC090881, AC166575

Consensus CDS

CCDS28609.1

UniProtKB/Swiss-Prot

Q91WT9, Q91WU3

Related

ENSMUSP00000158269.2, ENSMUST00000236853.2

Conserved Domains (1) summary

TIGR01137
Location:73 → 554

cysta_beta; cystathionine beta-synthase
NM_178224.4 → NP_835742.1 cystathionine beta-synthase isoform 2

See identical proteins and their annotated locations for NP_835742.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. Both variants 2 and 3 encode the same isoform (2), which is shorter than isoform 1.

Source sequence(s)

AC090881, AC166575

Consensus CDS

CCDS28610.1

UniProtKB/Swiss-Prot

Q91WT9

Related

ENSMUSP00000077597.6, ENSMUST00000078509.12

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

RNA

NR_176933.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC090881, AC166575

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

31831602..31856170 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160281.1 → XP_036016174.1 cystathionine beta-synthase isoform X2

Conserved Domains (1) summary

TIGR01137
Location:1 → 469

cysta_beta; cystathionine beta-synthase
XM_006523551.4 → XP_006523614.1 cystathionine beta-synthase isoform X1

See identical proteins and their annotated locations for XP_006523614.1

UniProtKB/Swiss-Prot

Q91WT9, Q91WU3

Conserved Domains (1) summary

TIGR01137
Location:73 → 554

cysta_beta; cystathionine beta-synthase
XM_006523549.4 → XP_006523612.1 cystathionine beta-synthase isoform X1

See identical proteins and their annotated locations for XP_006523612.1

UniProtKB/Swiss-Prot

Q91WT9, Q91WU3

Conserved Domains (1) summary

TIGR01137
Location:73 → 554

cysta_beta; cystathionine beta-synthase