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LOC102724560 cystathionine beta-synthase like [ Homo sapiens (human) ]

Gene ID: 102724560, updated on 3-Apr-2024

Summary

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Gene symbol
LOC102724560
Gene description
cystathionine beta-synthase like
See related
Ensembl:ENSG00000274276
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CBS; CBSL
Annotation information
Note: GeneID:102724560 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:875. [11 Jun 2021]
Expression
Biased expression in liver (RPKM 34.4), brain (RPKM 14.0) and 6 other tissues See more
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Genomic context

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Location:
21p12
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (6444869..6468621, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724701 Neighboring gene carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2-like Neighboring gene uncharacterized CH507-145C22.1 Neighboring gene U2 small nuclear RNA auxiliary factor 1 like 5 Neighboring gene crystallin alpha A2 Neighboring gene 39S ribosomal protein L51, mitochondrial-like

Genomic regions, transcripts, and products

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Genomic Sequence:
NC_000021.9 Chromosome 21 Reference GRCh38.p14 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Heme interaction of the intrinsically disordered N-terminal peptide segment of human cystathionine-β-synthase. Kumar A, et al. Sci Rep, 2018 Feb 6. PMID 29410458, Free PMC Article
  2. Homocysteine contribution to DNA damage in cystathionine β-synthase-deficient patients. Vanzin CS, et al. Gene, 2014 Apr 15. PMID 24534463
  3. NO* binds human cystathionine β-synthase quickly and tightly. Vicente JB, et al. J Biol Chem, 2014 Mar 21. PMID 24515102, Free PMC Article
  4. Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. Casique L, et al. Gene, 2013 Nov 15. PMID 23981774, Free PMC Article
  5. Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. Pey AL, et al. Biochem J, 2013 Jan 1. PMID 22985361

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • MGC15515

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables carbon monoxide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cystathionine beta-synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cystathionine beta-synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables heme binding EXP
Inferred from Experiment
more info
 PubMed 
enables heme binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables modified amino acid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nitric oxide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nitrite reductase (NO-forming) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxygen binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA protection IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in L-cysteine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-serine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in L-serine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in blood vessel diameter maintenance IEA
Inferred from Electronic Annotation
more info
  
involved_in blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
  
involved_in cartilage development involved in endochondral bone morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellum morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in cysteine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cysteine biosynthetic process from serine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cysteine biosynthetic process via cystathionine IEA
Inferred from Electronic Annotation
more info
  
involved_in endochondral ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in homocysteine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in homocysteine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hydrogen sulfide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hydrogen sulfide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in maternal process involved in female pregnancy IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in response to folic acid IEA
Inferred from Electronic Annotation
more info
  
involved_in superoxide metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in transsulfuration IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol HDA PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
cystathionine beta-synthase
Names
beta-thionase
cystathionine beta-synthase-like protein
serine sulfhydrase
NP_001308002.1
NP_001340935.1
NP_001340936.1
NP_001340937.1
NP_001340938.1
NP_001340939.1
NP_001340941.1
NP_001340943.1
NP_001340944.1
XP_016883698.1
XP_016883699.1
XP_047296605.1
XP_047296606.1
XP_047296607.1
XP_047296608.1
XP_047296609.1
XP_047296610.1
XP_047296611.1
XP_047296612.1
XP_047296613.1

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)

  1. NM_001321073.3 → NP_001308002.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    BC007257, FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  2. NM_001354006.1 → NP_001340935.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  3. NM_001354007.1 → NP_001340936.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  4. NM_001354008.1 → NP_001340937.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  5. NM_001354009.3 → NP_001340938.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Related
    ENST00000398168.6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  6. NM_001354010.1 → NP_001340939.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  7. NM_001354012.1 → NP_001340941.1  cystathionine beta-synthase isoform a

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 544
    cysta_beta; cystathionine beta-synthase

  8. NM_001354014.1 → NP_001340943.1  cystathionine beta-synthase isoform b

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 558
    cysta_beta; cystathionine beta-synthase

  9. NM_001354015.1 → NP_001340944.1  cystathionine beta-synthase isoform b

    Status: VALIDATED

    Source sequence(s)
    FP236240
    UniProtKB/TrEMBL
    B7Z2D6
    Conserved Domains (1) summary
    TIGR01137
    Location:76 → 558
    cysta_beta; cystathionine beta-synthase

RNA

  1. NR_148682.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    FP236240

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    6444869..6468621 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440651.1 → XP_047296607.1  cystathionine beta-synthase isoform X2

  2. XM_047440652.1 → XP_047296608.1  cystathionine beta-synthase isoform X2

  3. XM_047440650.1 → XP_047296606.1  cystathionine beta-synthase isoform X2

  4. XM_047440656.1 → XP_047296612.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5

  5. XM_047440653.1 → XP_047296609.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5

  6. XM_047440655.1 → XP_047296611.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5

  7. XM_047440657.1 → XP_047296613.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5

  8. XM_047440654.1 → XP_047296610.1  cystathionine beta-synthase isoform X3

    UniProtKB/Swiss-Prot
    B2R993, D3DSK4, P35520, Q99425, Q9BWC5

  9. XM_047440649.1 → XP_047296605.1  cystathionine beta-synthase isoform X2

  10. XM_017028210.2 → XP_016883699.1  cystathionine beta-synthase isoform X1

  11. XM_017028209.1 → XP_016883698.1  cystathionine beta-synthase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P35520.2 GenPept UniProtKB/Swiss-Prot:P35520

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