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Aliases for CBSL Gene

Aliases for CBSL Gene

  • Cystathionine-Beta-Synthase Like 2 3 5
  • Cystathionine Beta-Synthase-Like Protein 3 4
  • Serine Sulfhydrase 3 4
  • Beta-Thionase 3 4
  • EC 4.2.1.22 4
  • CBS 3

External Ids for CBSL Gene

Summaries for CBSL Gene

GeneCards Summary for CBSL Gene

CBSL (Cystathionine-Beta-Synthase Like) is a Protein Coding gene. Diseases associated with CBSL include Gerstmann Syndrome and Tinea Manuum. Among its related pathways are Viral mRNA Translation and Sulfur amino acid metabolism. An important paralog of this gene is CBS.

UniProtKB/Swiss-Prot for CBSL Gene

  • Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons.

Additional gene information for CBSL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBSL Gene

Genomics for CBSL Gene

GeneHancer (GH) Regulatory Elements for CBSL Gene

Promoters and enhancers for CBSL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J006466 Promoter 0.5 Ensembl 600.7 +1.2 1206 4.2 CBSL ENSG00000276902
GH21J006471 Promoter 0.5 Ensembl 0.7 -3.3 -3294 1.2 CBSL U2AF1L5
GH21J006497 Promoter 0.5 Ensembl 0.3 -30.1 -30094 5.6 U2AF1L5 CBSL
GH21J006478 Enhancer 0.2 Ensembl 0.4 -10.0 -9993 0.6 CBSL U2AF1L5
GH21J006474 Enhancer 0.2 Ensembl 0.4 -6.0 -5994 0.2 CBSL U2AF1L5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBSL on UCSC Golden Path with GeneCards custom track

Genomic Locations for CBSL Gene

Genomic Locations for CBSL Gene
chr21:6,444,869-6,468,507
(GRCh38/hg38)
Size:
23,639 bases
Orientation:
Minus strand

Genomic View for CBSL Gene

Genes around CBSL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBSL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBSL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBSL Gene

Proteins for CBSL Gene

  • Protein details for CBSL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DN79-CBSL_HUMAN
    Recommended name:
    Cystathionine beta-synthase-like protein
    Protein Accession:
    P0DN79

    Protein attributes for CBSL Gene

    Size:
    551 amino acids
    Molecular mass:
    60587 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homotetramer.

neXtProt entry for CBSL Gene

Post-translational modifications for CBSL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CBSL Gene

Domains & Families for CBSL Gene

Gene Families for CBSL Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for CBSL Gene

Graphical View of Domain Structure for InterPro Entry

P0DN79

UniProtKB/Swiss-Prot:

CBSL_HUMAN :
  • Belongs to the cysteine synthase/cystathionine beta-synthase family.
Family:
  • Belongs to the cysteine synthase/cystathionine beta-synthase family.
genes like me logo Genes that share domains with CBSL: view

No data available for Suggested Antigen Peptide Sequences for CBSL Gene

Function for CBSL Gene

Molecular function for CBSL Gene

UniProtKB/Swiss-Prot Function:
Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine. Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-homocysteine + L-serine = H2O + L,L-cystathionine; Xref=Rhea:RHEA:10112, ChEBI:CHEBI:15377, ChEBI:CHEBI:33384, ChEBI:CHEBI:58161, ChEBI:CHEBI:58199; EC=4.2.1.22; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Allosterically activated by S-adenosyl-methionine/AdoMet. Activated by S-adenosylhomocysteine/AdoHcy. Binds non-covalently to a heme group that may control the redox sensitivity of the enzyme.

Enzyme Numbers (IUBMB) for CBSL Gene

Gene Ontology (GO) - Molecular Function for CBSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004122 cystathionine beta-synthase activity IEA --
GO:0004124 cysteine synthase activity IBA 21873635
GO:0016829 lyase activity IEA --
GO:0020037 heme binding IBA 21873635
GO:0030170 pyridoxal phosphate binding IBA 21873635
genes like me logo Genes that share ontologies with CBSL: view
genes like me logo Genes that share phenotypes with CBSL: view

Animal Models for CBSL Gene

MGI Knock Outs for CBSL:
  • Cbs Cbs<tm1Unc>

Animal Model Products

miRNA for CBSL Gene

miRTarBase miRNAs that target CBSL

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CBSL Gene

Localization for CBSL Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBSL Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBSL gene
Compartment Confidence
nucleus 5
extracellular 2
mitochondrion 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
genes like me logo Genes that share ontologies with CBSL: view

Pathways & Interactions for CBSL Gene

genes like me logo Genes that share pathways with CBSL: view

UniProtKB/Swiss-Prot P0DN79-CBSL_HUMAN

  • Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.

Gene Ontology (GO) - Biological Process for CBSL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006535 cysteine biosynthetic process from serine IBA 21873635
GO:0008652 cellular amino acid biosynthetic process IEA --
GO:0019343 cysteine biosynthetic process via cystathionine IEA --
GO:0019344 cysteine biosynthetic process IEA --
GO:0019346 transsulfuration IBA 21873635
genes like me logo Genes that share ontologies with CBSL: view

No data available for SIGNOR curated interactions for CBSL Gene

Drugs & Compounds for CBSL Gene

No Compound Related Data Available

Transcripts for CBSL Gene

mRNA/cDNA for CBSL Gene

(9) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(10) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for CBSL Gene

No ASD Table

Relevant External Links for CBSL Gene

GeneLoc Exon Structure for
CBSL
ECgene alternative splicing isoforms for
CBSL

Expression for CBSL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CBSL Gene:

CBSL
genes like me logo Genes that share expression patterns with CBSL: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBSL Gene

Orthologs for CBSL Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBSL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBS 34
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia CBS 34
  • 87.84 (n)
dog
(Canis familiaris)
Mammalia CBS 34
  • 86.81 (n)
rat
(Rattus norvegicus)
Mammalia Cbs 34
  • 82.69 (n)
mouse
(Mus musculus)
Mammalia Cbs 17 34
  • 82.6 (n)
chicken
(Gallus gallus)
Aves CBS 34
  • 74.25 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cbs 34
  • 72.68 (n)
zebrafish
(Danio rerio)
Actinopterygii cbsa 34
  • 69.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000162 34
  • 60.22 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cbs 34
  • 59.58 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR012C 34
  • 55.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS4 34
  • 50.93 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09317g 34
  • 50.53 (n)
rice
(Oryza sativa)
Liliopsida Os06g0564500 34
  • 47.51 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08216 34
  • 56.24 (n)
Species where no ortholog for CBSL was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBSL Gene

ENSEMBL:
Gene Tree for CBSL (if available)
TreeFam:
Gene Tree for CBSL (if available)

Paralogs for CBSL Gene

Paralogs for CBSL Gene

genes like me logo Genes that share paralogs with CBSL: view

Variants for CBSL Gene

Sequence variations from dbSNP and Humsavar for CBSL Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1156256236 -- 6,459,003(-) C/T intron_variant
rs1156369773 -- 6,460,324(-) AAAAAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1156450384 -- 6,459,079(-) C/T intron_variant
rs1156588693 -- 6,449,359(-) T/C intron_variant
rs1156663444 -- 6,457,433(-) G/A intron_variant

Additional Variant Information for CBSL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBSL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for CBSL Gene

Disorders for CBSL Gene

MalaCards: The human disease database

(26) MalaCards diseases for CBSL Gene - From: DISEASES

Disorder Aliases PubMed IDs
gerstmann syndrome
  • aphasia-angular gyrus syndrome
tinea manuum
  • dermatophytosis of hand
speech and communication disorders
  • communication disorder
asymmetric motor neuropathy
cicatricial ectropion
- elite association - COSMIC cancer census association via MalaCards
Search CBSL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CBSL

genes like me logo Genes that share disorders with CBSL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBSL Gene

Publications for CBSL Gene

  1. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  2. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y … Zou H (Journal of proteomics 2014) 4 58
  3. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for CBSL Gene

Sources for CBSL Gene

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