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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCBL1 Gene

protein-coding   GIFtS: 62
GCID: GC09M131595

cysteine conjugate-beta lyase, cytoplasmic

(Previous names: cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase...)
 Explore 14 diseases affiliated with
CCBL1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CCBL1    

Aliases
for CCBL1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cysteine Conjugate-Beta Lyase, Cytoplasmic1 2     KAT12
GTK1 2 3     Beta-Lysase, Kidney2
KATI1 2 3     Glutamine-Phenylpyruvate Aminotransferase2
Cysteine Conjugate-Beta Lyase; Cytoplasmic (Glutamine Transaminase K,
Kyneurenine Aminotransferase)1 2
     Kyneurenine Aminotransferase2
Cysteine-S-Conjugate Beta-Lyase2 3     Kynurenine--Oxoglutarate Transaminase 12
Glutamine Transaminase K2 3     EC 2.6.1.643
Glutamine--Phenylpyruvate Transaminase2 3     EC 2.6.1.73
Kynurenine Aminotransferase I2 3     EC 4.4.1.133
Kynurenine--Oxoglutarate Transaminase I2 3     

External Ids:    HGNC: 15641   Entrez Gene: 8832   Ensembl: ENSG000001710977   OMIM: 6005475   UniProtKB: Q167733   

Export aliases for CCBL1 gene to outside databases

Previous GC identifers: GC09M122709 GC09M123241 GC09M125048 GC09M126971 GC09M128674 GC09M130635 GC09M101204


Summaries
for CCBL1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CCBL1:
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)

UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid
(KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites.
Catalyzes 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

Gene Wiki entry for CCBL1


Genomic Views
for CCBL1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_008470.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCBL1 gene promoter:
         COUP-TF1   AML1a   MAZR   COUP   HNF-4alpha2   AP-4   HNF-4alpha1   Arnt   COUP-TF   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCBL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCBL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCBL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.11   Ensembl cytogenetic band:  9q34.11   HGNC cytogenetic band: 9q34.11

CCBL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCBL1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M131595:  view genomic region     (about GC identifiers)

Start:
 131,595,221 bp from pter      End:
 131,644,773 bp from pter
Size:
 49,553 bases      Orientation:
 minus strand

Proteins
for CCBL1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773 (See protein sequence)
Recommended Name: Kynurenine--oxoglutarate transaminase 1  
Size: 422 amino acids; 47875 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: Cytoplasm
6 PDB 3D structures from and Proteopedia for CCBL1:
1W7L (3D)        1W7M (3D)        1W7N (3D)        3FVS (3D)        3FVU (3D)        3FVX (3D)    
Secondary accessions: Q5T275 Q8N191
Alternative splicing: 3 isoforms:  Q16773-1   Q16773-2   Q16773-3   

Explore the universe of human proteins at neXtProt for CCBL1: NX_Q16773

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16773

    • CCBL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001116143.1  NP_001116144.1  NP_004050.3  

    ENSEMBL proteins: 
     ENSP00000302227   ENSP00000317342   ENSP00000390377   ENSP00000412402   ENSP00000392354  
     ENSP00000399415  
    Reactome Protein details: Q16773
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--


    CCBL1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CCBL1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CCBL1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry Q16773

    ProtoNet protein and cluster: Q16773

    1 Blocks protein family: IPB004839 Aminotransferase

    UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
    Similarity: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family


    Function
    for CCBL1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
    Function: Catalyzes the irreversible transamination of the L-tryptophan metabolite L-kynurenine to form kynurenic acid
    (KA). Metabolizes the cysteine conjugates of certain halogenated alkenes and alkanes to form reactive metabolites.
    Catalyzes 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
    Catalytic activity: L-kynurenine + 2-oxoglutarate = 4-(2-aminophenyl)-2,4-dioxobutanoate + L-glutamate
    Catalytic activity: L-glutamine + phenylpyruvate = 2-oxoglutaramate + L-phenylalanine
    Catalytic activity: RS-CH(2)-CH(NH(3)(+))COO(-) + H(2)O = RSH + NH(3) + pyruvate
    Enzyme regulation: Inhibited by tryptophan, indole-3-pyruvic acid, 3-indolepropionic acid, DL-indole-3-lactic acid,
    indole-3-acetic acid (IAC) and Tris

         Genatlas biochemistry entry for CCBL1:
    cysteine conjugate-beta lyase,cytoplasmic,kynurenine aminotransferase

    Enzyme Numbers (IUBMB): EC 4.4.1.131 EC 2.6.1.641 EC 2.6.1.71

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate CCBL1:
    hsa-miR-486-3p
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008483transaminase activity TAS7883047
    GO:0016212kynurenine-oxoglutarate transaminase activity IDA19338303
    GO:0016740transferase activity ----
    GO:0016829lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--


    CCBL1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CCBL1:
     Increased cell number in S 


    Pathways & Interactions
    for CCBL1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2Amino acid synthesis and interconversion (transamination)
    		Amino acid synthesis and interconversion (transamination)1.00
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Abnormal metabolism in phenylketonuria
    		Abnormal metabolism in phenylketonuria1.00
    5Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/7        Reactome Pathways for CCBL1 (see all 7)
        Tryptophan catabolism
    Phenylalanine and tyrosine catabolism
    Metabolism
    Abnormal metabolism in phenylketonuria
    Amino acid synthesis and interconversion (transamination)


    3         Kegg Pathways  (Kegg details for CCBL1):
        Tryptophan metabolism
    Selenocompound metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: KAT1_HUMAN, Q16773
    Pathway: Amino-acid degradation; L-kynurenine degradation; kynurenate from L-kynurenine: step 1/2


    CCBL1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCBL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/23 Interacting proteins for CCBL1 (Q167733 ENSP000003022274) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERCC3P194473, ENSP000002853984I2D: score=1 STRING: ENSP00000285398
    COX10Q128873, ENSP000002616434I2D: score=1 STRING: ENSP00000261643
    ISYNA1Q9NPH23I2D: score=4 
    SEPT7Q161813I2D: score=4 
    HSP90AA1P079003I2D: score=2 
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006569tryptophan catabolic process TAS--
    GO:0006575cellular modified amino acid metabolic process TAS7883047
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0009058biosynthetic process ----


    CCBL1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for CCBL1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CCBL1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CCBL1

    7 HMDB Compounds for CCBL1    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Keto-glutaramic acid2-keto-glutaramate (see all 3)18465-19-5--
    Kynurenic acid4-hydroxy-2-Quinolinecarboxylic acid (see all 13)492-27-3--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--
    L-Kynurenine(S)-alpha,2-diamino-3-hydroxy-gamma-oxo-Benzenebutanoate (see all 15)343-65-7--
    L-Phenylalanine(-)-beta-Phenylalanine (see all 28)63-91-2--
    Phenylpyruvic acid2-Oxo-3-phenylpropanoate (see all 16)156-06-9--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    6 DrugBank Compounds for CCBL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12167474 12850267 16846239 12798391 16463021
    D-Phenylalanine-- 673-06-3target--17139284 17016423
    N'-Pyridoxyl-Lysine-5'-Monophosphate-- --target--17139284 17016423
    Pyridoxamine-5'-Phosphate-- --target--17139284 17016423
    1H-INDOL-3-YLACETIC ACID-- --target--10592235
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17112493

    10/29 Novoseek chemical compound relationships for CCBL1 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    s-(1,1,2,2-tetrafluoroethyl)-l-cysteine 94.2 9 10535746 (3), 12167474 (1), 12700887 (1), 12022883 (1) (see all 5)
    fluoromethyl 2,2-difluoro-1-(trifluoromethyl)vinyl ether 93.2 1 9523802 (1)
    s-(1,2-dichlorovinyl)-l-cysteine 91 2 10696794 (1), 12859250 (1)
    dcvg 89.7 1 8975632 (1)
    tetrafluoroethylene 88.6 1 15554237 (1)
    kynurenine 86.1 36 8350986 (5), 16008534 (1), 15880762 (1), 17112493 (1) (see all 13)
    hcbd 84.3 1 15554237 (1)
    kynurenic acid 83.1 12 15880762 (1), 17112493 (1), 17364732 (1), 10226937 (1) (see all 7)
    aminooxyacetic acid 78.9 1 10696794 (1)
    cysteine 73.7 49 7883047 (5), 2139845 (2), 8968194 (2), 9523802 (2) (see all 34)

    Search CenterWatch for drugs/clinical trials and news about CCBL1 / KAT1 

    Transcripts
    for CCBL1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CCBL1 gene (3 alternative transcripts): 
    NM_001122671.1  NM_001122672.1  NM_004059.4  

    Unigene Cluster for CCBL1:

    Cysteine conjugate-beta lyase, cytoplasmic
    Hs.495250  [show with all ESTs]
    Unigene Representative Sequence: AK094505
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462722(uc004bwi.3) ENST00000302586(uc004bwh.3 uc010myn.3 uc004bwj.3)
    ENST00000320665 ENST00000483599(uc004bwg.3) ENST00000466418 ENST00000451800
    ENST00000416084 ENST00000474824 ENST00000427720 ENST00000436267(uc011mbl.2)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AK094505.1 AK291178.1 AK297995.1 AK314427.1 BC033685.1 X82224.1 

    12 DOTS entries:

    DT.100782734  DT.100782727  DT.100782730  DT.95155580  DT.121146448  DT.86856182  DT.95083635  DT.100770096 
    DT.40232862  DT.40304711  DT.86846929  DT.91676190 

    24/294 AceView cDNA sequences (see all 294):

    BG576340 CB243913 BI755163 BU557140 AW592713 BX280708 BU616618 AA609620 
    AA557314 CR600459 CD370333 NM_004059 BX091651 BC033685 BM832951 BF526849 
    BC046133 BQ067568 BU622726 CA430474 AW297031 BX397368 CR606465 CR623306 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for CCBL1 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
    SP1:                          -           -                       -     -     -                                                                                 
    SP2:              -     -     -     -     -     -                 -     -                                                                                       
    SP3:              -     -     -     -     -     -                 -     -     -                             -                                                   
    SP4:                                                              -     -                                   -                                                   
    SP5:                                -     -     -                 -     -                                   -                                                   

    ExUns: 18c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for CCBL1

    Expression
    for CCBL1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CCBL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCCCTGCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CCBL1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CCBL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCBL1

    SOURCE GeneReport for Unigene cluster: Hs.495250
        SABiosciences Expression via Pathway-Focused PCR Array including CCBL1: 
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCBL1
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    In Situ
    Assay Products:     
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    Orthologs
    for CCBL1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for CCBL1 gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CCBL11 cysteine conjugate-beta lyase, cytoplasmic 67.06(n)
    64.05(a)    		   417202  XM_415485.3  XP_415485.2 
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.239402 Xenopus laevis transcribed sequence with weak similarity more 77.02(n)    BX851552.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wufd11f022 Danio rerio cDNA clone MGC63644 IMAGE5605137, complete more 71.81(n)    BC055182.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG69503 kynurenine-oxoglutarate aminotransferase 47(a)   86F9   --
    worm
    (Caenorhabditis elegans)    		 Secernentea F28H6.33 Aminotransferases class-I 39(a)   X(14173325-14175295)   --
    A. gossypii yeast
    (Ashbya gossypii)    		 Saccharomycetes AGOS_AEL170C1 AEL170Cp 48.12(n)
    36.56(a)    		   4620876  NM_210044.1  NP_984691.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G776706
    		 putative aminotransferase
    		 34(a)
    		 1 → many
    		 1(29188901-29190975)
    rice
    (Oryza sativa)    		 Liliopsida Os10g04847001 hypothetical protein 46.9(n)
    39.62(a)    		   4348936  NM_001071425.1  NP_001064890.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria ybdL6
    		 methionine aminotransferase, PLP-dependent
    		 32(a)
    		 possible ortholog
    		 Chromosome(632809-633969)


    ENSEMBL Gene Tree for CCBL1 (if available)
    TreeFam Gene Tree for CCBL1 (if available) 

    Paralogs
    for CCBL1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CCBL1 gene
    CCBL22  TAT2  
    1 SIMAP similar gene for CCBL1 using alignment to 8 protein entries:     KAT1_HUMAN (see all proteins):
    CCBL2

    CCBL1 for paralogs           About GeneDecksing



    Genomic Variants
    for CCBL1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/992 NCBI SNPs in CCBL1 are shown (see all 992)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs727588771,2
    		C,--101250833(+) CTTCCG/ACCCTC 2 -- us2k11Minor allele frequency- A:0.01NA 120
    rs771874801,2
    		--101251102(+) TATCTG/TCGTGT 3 -- us2k12Minor allele frequency- T:0.06CSA WA 120
    rs123505331,2
    		--101251126(+) TAATAC/TGTGGG 3 -- us2k10--------
    rs788775421,2
    		F,--101251196(+) GCCCAC/AGGAGT 1 -- us2k11Minor allele frequency- A:0.10WA 118
    rs1424413751,2
    		--131594945(+) CGAGGC/TGAGCA 3 -- ds50010--------
    rs1806836951,2
    		--131594979(+) AGTCCA/GGCCCA 3 -- ds50010--------
    rs1468531001,2
    		--131595018(+) AAAACA/TCAAAA 3 -- ds50010--------
    rs29979041,2
    		C,F,A,H,--131595035(-) CACCAT/CGCCCG 3 -- ds50015Minor allele frequency- C:0.30NA 10
    rs1446814671,2
    		C,--131595177(+) TCAAA-/AACAAC
    AACAACAAC    AACAA     		3 -- ds50010--------
    rs1849496111,2
    		--131595252(+) CCTTGA/GGTGCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for CCBL1 (131595221 - 131644773 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCBL1
         1 Indel: 29060

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    Disorders / Diseases
    for CCBL1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CCBL1 for disorders           About GeneDecksing

    OMIM gene information: 600547    OMIM disorders: --

    14 diseases for CCBL1:    About MalaCards
    schizophrenia    multiple sclerosis    huntington's disease    cataract
    renal carcinoma    alzheimer's disease    ischemia    pneumonia
    carcinoma    cerebritis    tuberculosis    prostatitis
    neuronitis    mycobacterium tuberculosis

    2 Novoseek disease relationships for CCBL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    toxicity renal 37.7 2 12750429 (1), 11772127 (1)
    carcinoma renal cell 5.17 1 7767899 (1)


    Export disorders for CCBL1 gene to outside databases

    Publications
    for CCBL1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CCBL1 gene, integrated from 9 sources (see all 89):
    (articles sorted by number of sources associating them with CCBL1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of a cDNA for human kidney cysteine conjugate beta-lyase. (PubMed id 7883047)1, 2, 3, 9 Perry S....Goldfarb P. (1995)
    2. Crystal structure of human kynurenine aminotransferase I. (PubMed id 15364907)1, 2, 9 Rossi F....Rizzi M. (2004)
    3. Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K. (PubMed id 19338303)1, 2, 9 Han Q.... Li J. (2009)
    4. Cysteine S-conjugate beta-lyases. (PubMed id 16463021)1, 7 Cooper A.J. and Pinto J.T. (2006)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Substrate specificity of human glutamine transaminase K as an aminotransferase and as a cysteine S-conjugate beta-lyase. (PubMed id 18342615)1, 9 Cooper A.J....Spencer J.P. (2008)
    8. Toxic, halogenated cysteine S-conjugates and targeting of mitochondrial enzymes of energy metabolism. (PubMed id 12167474)7, 9 Cooper A.J....Anders M.W. (2002)
    9. Cysteine conjugate beta-lyase-dependent biotransformation of the cysteine S-conjugates of the sevoflurane degradation product compound A in human, nonhuman primate, and rat kidney cytosol and mitochondria. (PubMed id 8968194)1, 9 Iyer R.A. and Anders M.W. (1996)
    10. Purification and characterization of human kidney cytosolic cysteine conjugate beta-lyase activity. (PubMed id 2139845)1, 9 Lash L.H....Anders M.W. (1990)

    External Searches for CCBL1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CCBL1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 883 HGNC: 1564 AceView: CCBL1andC9orf114 Ensembl:ENSG00000171097 euGenes: HUgn883
    ECgene: CCBL1 Kegg: 883 H-InvDB: CCBL1

    Other Databases showing CCBL1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CCBL1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CCBL1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CCBL1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CCBL1 gene:
    Search GeneIP for patents involving CCBL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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