Human Gene RP11-545E17.13 (uc011mbl.2)
  Description: Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (RP11-545E17.13), transcript variant 1, mRNA.
RefSeq Summary (NM_004059): This gene encodes a cytosolic enzyme that is responsible for the metabolism of cysteine conjugates of certain halogenated alkenes and alkanes. This metabolism can form reactive metabolites leading to nephrotoxicity and neurotoxicity. Increased levels of this enzyme have been linked to schizophrenia. Multiple transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr9:131,595,392-131,644,354 Size: 48,963 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr9:131,595,863-131,609,807 Size: 13,945 Coding Exon Count: 14 

Page IndexSequence and LinksPrimersGene AllelesRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Model InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:131,595,392-131,644,354)mRNA (may differ from genome)Protein (516 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
LynxMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.38 RPKM in Brain - Cerebellum
Total median expression: 179.97 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -135.00294-0.459 Picture PostScript Text
3' UTR -161.71471-0.343 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004839 - Aminotransferase_I/II
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2

Pfam Domains:
PF00155 - Aminotransferase class I and II

SCOP Domains:
53383 - PLP-dependent transferases

ModBase Predicted Comparative 3D Structure on B7Z4W5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0008483 transaminase activity
GO:0016212 kynurenine-oxoglutarate transaminase activity
GO:0016740 transferase activity
GO:0016829 lyase activity
GO:0030170 pyridoxal phosphate binding
GO:0047804 cysteine-S-conjugate beta-lyase activity
GO:0070548 L-glutamine aminotransferase activity

Biological Process:
GO:0006575 cellular modified amino acid metabolic process
GO:0009058 biosynthetic process
GO:0070189 kynurenine metabolic process
GO:0097052 L-kynurenine metabolic process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC021262 - Homo sapiens cysteine conjugate-beta lyase, cytoplasmic, mRNA (cDNA clone MGC:29624 IMAGE:4137942), complete cds.
BC013069 - Homo sapiens cysteine conjugate-beta lyase, cytoplasmic, mRNA (cDNA clone IMAGE:4149342), with apparent retained intron.
BC033685 - Homo sapiens cysteine conjugate-beta lyase, cytoplasmic, mRNA (cDNA clone MGC:45005 IMAGE:5193675), complete cds.
AK094505 - Homo sapiens cDNA FLJ37186 fis, clone BRALZ2001834, highly similar to H.sapiens mRNA for glutamine transaminase K.
AK291178 - Homo sapiens cDNA FLJ77833 complete cds, highly similar to H.sapiens mRNA for glutamine transaminase K.
AK297995 - Homo sapiens cDNA FLJ56468 complete cds, highly similar to Kynurenine--oxoglutarate transaminase 1 (EC 2.6.1.7).
X82224 - H.sapiens mRNA for glutamine transaminase K.
KJ896550 - Synthetic construct Homo sapiens clone ccsbBroadEn_05944 CCBL1 gene, encodes complete protein.
AK314427 - Homo sapiens cDNA, FLJ95217, Homo sapiens cysteine conjugate-beta lyase; cytoplasmic (glutaminetransaminase K, kyneurenine aminotransferase) (CCBL1), mRNA.
KJ901317 - Synthetic construct Homo sapiens clone ccsbBroadEn_10711 CCBL1 gene, encodes complete protein.
JD163779 - Sequence 144803 from Patent EP1572962.
JD225925 - Sequence 206949 from Patent EP1572962.
JD463590 - Sequence 444614 from Patent EP1572962.
JD488533 - Sequence 469557 from Patent EP1572962.
JD173114 - Sequence 154138 from Patent EP1572962.
KJ901318 - Synthetic construct Homo sapiens clone ccsbBroadEn_10712 CCBL1 gene, encodes complete protein.
CU676900 - Synthetic construct Homo sapiens gateway clone IMAGE:100022380 5' read CCBL1 mRNA.
BC022468 - Homo sapiens cysteine conjugate-beta lyase, cytoplasmic, mRNA (cDNA clone IMAGE:4815702), with apparent retained intron.
LF205627 - JP 2014500723-A/13130: Polycomb-Associated Non-Coding RNAs.
MA441204 - JP 2018138019-A/13130: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: AK297995, B7Z4W5, B7Z4W5_HUMAN, CCBL1, hCG_30593, NM_004059, NP_004050
UCSC ID: uc011mbl.2
RefSeq Accession: NM_004059
Protein: B7Z4W5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK297995.1
exon count: 15CDS single in 3' UTR: no RNA size: 1989
ORF size: 1551CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2937.50frame shift in genome: no % Coverage: 99.90
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.