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Aliases for CCBL2 Gene

Aliases for CCBL2 Gene

  • Cysteine Conjugate-Beta Lyase 2 2 3
  • KAT3 3 4 6
  • Kynurenine--Oxoglutarate Transaminase III 3 4
  • Kynurenine--Glyoxylate Transaminase 3 4
  • Cysteine-S-Conjugate Beta-Lyase 2 3 4
  • Kynurenine Aminotransferase III 3 4
  • KATIII 3 4
  • Kynurenine--Oxoglutarate Transaminase 3 3
  • Kynurenine-Oxoglutarate Transaminase 3 3
  • RP11-82K18.3 3
  • EC 4.4.1.13 4
  • EC 2.6.1.63 4
  • EC 2.6.1.7 4

External Ids for CCBL2 Gene

Previous GeneCards Identifiers for CCBL2 Gene

  • GC01M089174
  • GC01M089401
  • GC01M087518

Summaries for CCBL2 Gene

Entrez Gene Summary for CCBL2 Gene

  • This gene encodes an aminotransferase that transaminates kynurenine to form kynurenic acid. Kynurenic acid is a metabolite of tryptophan. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene. This gene shares 5' exon structure with the RNA binding motif protein, X-linked-like 1 locus on chromosome 1, but the coding sequences are non-overlapping. [provided by RefSeq, Jun 2009]

GeneCards Summary for CCBL2 Gene

CCBL2 (Cysteine Conjugate-Beta Lyase 2) is a Protein Coding gene. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and kynurenine-oxoglutarate transaminase activity. An important paralog of this gene is TAT.

UniProtKB/Swiss-Prot for CCBL2 Gene

  • Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCBL2 Gene

Genomics for CCBL2 Gene

Regulatory Elements for CCBL2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CCBL2 Gene

Start:
88,935,773 bp from pter
End:
88,992,960 bp from pter
Size:
57,188 bases
Orientation:
Minus strand

Genomic View for CCBL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CCBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCBL2 Gene

Proteins for CCBL2 Gene

  • Protein details for CCBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6YP21-KAT3_HUMAN
    Recommended name:
    Kynurenine--oxoglutarate transaminase 3
    Protein Accession:
    Q6YP21
    Secondary Accessions:
    • B3KQ13
    • O95335
    • Q5JS27
    • Q5T9T7
    • Q5T9T8
    • Q6AI27
    • Q6ICW1
    • Q9BVY5

    Protein attributes for CCBL2 Gene

    Size:
    454 amino acids
    Molecular mass:
    51400 Da
    Cofactor:
    Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAC72959.1; Type=Frameshift; Positions=336; Evidence={ECO:0000305}; Sequence=AAH00819.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAG29278.1; Type=Frameshift; Positions=336; Evidence={ECO:0000305}; Sequence=CAI21695.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI21696.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41339.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI41340.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CCBL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCBL2 Gene

Proteomics data for CCBL2 Gene at MOPED

Post-translational modifications for CCBL2 Gene

  • Ubiquitination at Lys108 and Lys447
  • Modification sites at PhosphoSitePlus

Other Protein References for CCBL2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CCBL2 Gene

Domains for CCBL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6YP21

UniProtKB/Swiss-Prot:

KAT3_HUMAN :
  • Q6YP21
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with CCBL2: view

No data available for Gene Families for CCBL2 Gene

Function for CCBL2 Gene

Molecular function for CCBL2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
UniProtKB/Swiss-Prot CatalyticActivity: An L-cysteine-S-conjugate + H(2)O = RSH + NH(3) + pyruvate
UniProtKB/Swiss-Prot CatalyticActivity: L-kynurenine + glyoxylate = 4-(2-aminophenyl)-2,4-dioxobutanoate + glycine
UniProtKB/Swiss-Prot Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid (KA). May catalyze the beta-elimination of S-conjugates and Se-conjugates of L-(seleno)cysteine, resulting in the cleavage of the C-S or C-Se bond (By similarity). Has transaminase activity towards L-kynurenine, tryptophan, phenylalanine, serine, cysteine, methionine, histidine, glutamine and asparagine with glyoxylate as an amino group acceptor (in vitro). Has lower activity with 2-oxoglutarate as amino group acceptor (in vitro) (By similarity).

Enzyme Numbers (IUBMB) for CCBL2 Gene

Gene Ontology (GO) - Molecular Function for CCBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016212 kynurenine-oxoglutarate transaminase activity ISS --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0042803 protein homodimerization activity IEA --
GO:0044822 poly(A) RNA binding IDA 22681889
GO:0047315 kynurenine-glyoxylate transaminase activity ISS --
genes like me logo Genes that share ontologies with CCBL2: view

Phenotypes for CCBL2 Gene

GenomeRNAi human phenotypes for CCBL2:
genes like me logo Genes that share phenotypes with CCBL2: view

Animal Model Products

CRISPR Products

miRNA for CCBL2 Gene

miRTarBase miRNAs that target CCBL2

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CCBL2 Gene

Localization for CCBL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CCBL2 Gene COMPARTMENTS Subcellular localization image for CCBL2 gene
Compartment Confidence
mitochondrion 3
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CCBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with CCBL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCBL2 Gene

Pathways for CCBL2 Gene

genes like me logo Genes that share pathways with CCBL2: view

Pathways by source for CCBL2 Gene

Gene Ontology (GO) - Biological Process for CCBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006103 2-oxoglutarate metabolic process IEA --
GO:0006520 cellular amino acid metabolic process ISS --
GO:0006569 tryptophan catabolic process TAS --
GO:0009058 biosynthetic process IEA --
GO:0034641 cellular nitrogen compound metabolic process TAS --
genes like me logo Genes that share ontologies with CCBL2: view

Compounds for CCBL2 Gene

(3) HMDB Compounds for CCBL2 Gene

Compound Synonyms Cas Number PubMed IDs
Kynurenic acid
  • 4-hydroxy-2-Quinolinecarboxylic acid
492-27-3
L-Kynurenine
  • (S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate
343-65-7
Pyridoxal 5'-phosphate
  • Apolon B6
54-47-7

(2) Drugbank Compounds for CCBL2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target
Pyridoxal Phosphate
  • Codecarboxylase
54-47-7 target cofactor
genes like me logo Genes that share compounds with CCBL2: view

Transcripts for CCBL2 Gene

Unigene Clusters for CCBL2 Gene

Cysteine conjugate-beta lyase 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CCBL2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCBL2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b · 17c
SP1: - - - - -
SP2: - - - -
SP3: - - - - - -
SP4:
SP5:
SP6: -
SP7: -

Relevant External Links for CCBL2 Gene

GeneLoc Exon Structure for
CCBL2
ECgene alternative splicing isoforms for
CCBL2

Expression for CCBL2 Gene

mRNA expression in normal human tissues for CCBL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CCBL2 Gene

SOURCE GeneReport for Unigene cluster for CCBL2 Gene Hs.481898

genes like me logo Genes that share expressions with CCBL2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CCBL2 Gene

Orthologs for CCBL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCBL2 35
  • 99.41 (n)
  • 98.9 (a)
CCBL2 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CCBL2 35
  • 91.56 (n)
  • 88.77 (a)
CCBL2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCBL2 35
  • 91.69 (n)
  • 91.17 (a)
CCBL2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccbl2 35
  • 84.21 (n)
  • 85 (a)
Ccbl2 16
Ccbl2 36
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCBL2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCBL2 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kat3 35
  • 81.35 (n)
  • 81.28 (a)
chicken
(Gallus gallus)
Aves CCBL2 35
  • 73.44 (n)
  • 72.41 (a)
CCBL2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCBL2 36
  • 61 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ccbl2 36
  • 62 (a)
OneToMany
ccbl2 36
  • 62 (a)
OneToMany
CCBL2 (3 of 4) 36
  • 63 (a)
OneToMany
CCBL2 (4 of 4) 36
  • 52 (a)
OneToMany
si:ch73-97h19.2 35
  • 66.75 (n)
  • 67.47 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011158 35
  • 52.61 (n)
  • 53.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6950 35
  • 53.53 (n)
  • 55.05 (a)
CG6950 36
  • 51 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea nkat-1 35
  • 53.08 (n)
  • 47.09 (a)
nkat-1 36
  • 41 (a)
ManyToMany
nkat-3 36
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BNA3 35
  • 48.94 (n)
  • 34.84 (a)
BNA3 36
  • 31 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F01617g 35
  • 47.57 (n)
  • 34.48 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G77670 35
  • 50.62 (n)
  • 41.71 (a)
rice
(Oryza sativa)
Liliopsida Os09g0453800 35
  • 51.6 (n)
  • 40.91 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03347 35
  • 44.88 (n)
  • 35.63 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC6B12.04c 35
  • 46.9 (n)
  • 36.13 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 62 (a)
ManyToMany
CSA.3659 36
  • 48 (a)
ManyToMany
Species with no ortholog for CCBL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CCBL2 Gene

ENSEMBL:
Gene Tree for CCBL2 (if available)
TreeFam:
Gene Tree for CCBL2 (if available)

Paralogs for CCBL2 Gene

Paralogs for CCBL2 Gene

Selected SIMAP similar genes for CCBL2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CCBL2: view

Variants for CCBL2 Gene

Sequence variations from dbSNP and Humsavar for CCBL2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14490 -- 88,935,930(-) AAGAA(A/C)TGTGA utr-variant-3-prime
rs1059370 - 88,961,431(-) TTAAT(C/T)CCAAA missense, reference
rs1325921 -- 88,956,216(+) TGCTT(A/G)TAGTG intron-variant
rs1325922 -- 88,961,770(+) AAATG(A/G)AAAAA intron-variant
rs1325923 -- 88,949,893(+) AAGTA(C/T)AGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCBL2 Gene

Variant ID Type Subtype PubMed ID
nsv830525 CNV Loss 17160897
nsv830537 CNV Gain 17160897
nsv462472 CNV Loss 19166990
dgv68e1 CNV Complex 17122850
esv7403 CNV Gain 19470904

Relevant External Links for CCBL2 Gene

HapMap Linkage Disequilibrium report
CCBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCBL2 Gene

Disorders for CCBL2 Gene

Relevant External Links for CCBL2

Genetic Association Database (GAD)
CCBL2
Human Genome Epidemiology (HuGE) Navigator
CCBL2
genes like me logo Genes that share disorders with CCBL2: view

No data available for UniProtKB/Swiss-Prot for CCBL2 Gene

Publications for CCBL2 Gene

  1. Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family. (PMID: 16376499) Yu P. … Cai T. (Gene 2006) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3

Products for CCBL2 Gene

Sources for CCBL2 Gene

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