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CCBL2 cysteine conjugate-beta lyase 2 [ Homo sapiens (human) ]

Gene ID: 56267, updated on 16-Apr-2014
Official Symbol
CCBL2provided by HGNC
Official Full Name
cysteine conjugate-beta lyase 2provided by HGNC
Primary source
HGNC:33238
Locus tag
RP11-82K18.3
See related
Ensembl:ENSG00000137944; HPRD:13752; MIM:610656; Vega:OTTHUMG00000010617
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KAT3; KATIII
Summary
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]
Location :
1p22.2
Sequence :
Chromosome: 1; NC_000001.11 (88935773..88992960, complement)
See CCBL2 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene general transcription factor IIB Neighboring gene chromosome 20 open reading frame 196 pseudogene Neighboring gene RNA binding motif protein, X-linked-like 1 Neighboring gene guanylate binding protein 3 Neighboring gene guanylate binding protein 1, interferon-inducible

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine-S-conjugate beta-lyase activity IEA
Inferred from Electronic Annotation
more info
 
kynurenine-glyoxylate transaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
kynurenine-oxoglutarate transaminase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
pyridoxal phosphate binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
2-oxoglutarate metabolic process IEA
Inferred from Electronic Annotation
more info
 
L-kynurenine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cellular amino acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
kynurenine metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
tryptophan catabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
kynurenine--oxoglutarate transaminase 3
Names
kynurenine--oxoglutarate transaminase 3
RP11-82K18.3
kynurenine aminotransferase III
cysteine-S-conjugate beta-lyase 2
kynurenine--glyoxylate transaminase
kynurenine-oxoglutarate transaminase 3
kynurenine--oxoglutarate transaminase III
NP_001008661.1
NP_001008662.1

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_001008661.2NP_001008661.1  kynurenine--oxoglutarate transaminase 3 isoform 1

    See proteins identical to NP_001008661.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AI478599, AY028624, DC424120
    Consensus CDS
    CCDS30766.1
    UniProtKB/TrEMBL
    B4DW13
    UniProtKB/Swiss-Prot
    Q6YP21
    Related
    ENSP00000260508, OTTHUMP00000012359, ENST00000260508, OTTHUMT00000029300
    Conserved Domains (2) summary
    cd00609
    Location:66448
    Blast Score: 743
    AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
    PRK07777
    Location:44449
    Blast Score: 890
    PRK07777; aminotransferase; Validated
  2. NM_001008662.2NP_001008662.1  kynurenine--oxoglutarate transaminase 3 isoform 2

    See proteins identical to NP_001008662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI478599, AK057176, DC424120
    Consensus CDS
    CCDS30767.1
    UniProtKB/Swiss-Prot
    Q6YP21
    Related
    ENSP00000359522, OTTHUMP00000012357, ENST00000370491, OTTHUMT00000029297
    Conserved Domains (2) summary
    cd00609
    Location:32414
    Blast Score: 743
    AAT_like; Aspartate aminotransferase family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). Pyridoxal phosphate combines with an alpha-amino acid to form a compound called a Schiff base or aldimine ...
    PRK07777
    Location:10415
    Blast Score: 890
    PRK07777; aminotransferase; Validated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38 Primary Assembly

    Range
    88935773..88992960, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

    Range
    87518867..87576019, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    89516514..89573685, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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