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GCAT Gene

protein-coding   GIFtS: 63
GCID: GC22P038203

Glycine C-Acetyltransferase

(Previous name: glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycine C-Acetyltransferase1 2     2-Amino-3-Ketobutyrate Coenzyme A Ligase1
KBL2 3 5     Glycine C-Acetyltransferase (2-Amino-3-Ketobutyrate Coenzyme A Ligase)1
Aminoacetone Synthase2 3     2-Amino-3-Ketobutyrate Coenzyme A Ligase, Mitochondrial2
Glycine Acetyltransferase2 3     2-Amino-3-Ketobutyrate-CoA Ligase2
AKB Ligase2 3     EC 2.3.18
EC 2.3.1.293 8     

External Ids:    HGNC: 41881   Entrez Gene: 234642   Ensembl: ENSG000001001167   OMIM: 6074225   UniProtKB: O756003   

Export aliases for GCAT gene to outside databases

Previous GC identifers: GC22P034818 GC22P036446 GC22P036528 GC22P021170


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GCAT Gene:
The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the enzymes
L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A ligase. L-Threonine is first converted into
2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which
then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The
encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing
results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. (provided by
RefSeq, Jan 2010)

GeneCards Summary for GCAT Gene:
GCAT (glycine C-acetyltransferase) is a protein-coding gene. Diseases associated with GCAT include labyrinthitis, and malaria. GO annotations related to this gene include pyridoxal phosphate binding and glycine C-acetyltransferase activity. An important paralog of this gene is ALAS2.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GCAT gene promoter:
         Pax-5   Pax-6   Lmo2   GATA-2   CREB   PPAR-gamma1   deltaCREB   PPAR-gamma2   ZID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGCAT promoter sequence
   Search Chromatin IP Primers for GCAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GCAT


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P038203:  view genomic region     (about GC identifiers)

Start:
38,203,912 bp from pter      End:
38,213,183 bp from pter
Size:
9,272 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KBL_HUMAN, O75600 (See protein sequence)
Recommended Name: 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial precursor  
Size: 419 amino acids; 45285 Da
Cofactor: Pyridoxal phosphate (By similarity)
Sequence caution: Sequence=BAC85552.1; Type=Frameshift; Positions=232;
Secondary accessions: E2QC23 Q6ZWF1 Q96CA9
Alternative splicing: 2 isoforms:  O75600-1   O75600-2   (Ref.2 (BAC85552) sequence is in conflict in position: 77:L->S. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GCAT: NX_O75600

Explore proteomics data for GCAT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GCAT (O75600) (see all 7)
     YPVVPKG  PVMLGDA  SDELNHAS  LNHASIIDG 


    See GCAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165161.1  NP_055106.1  

    ENSEMBL proteins: 
     ENSP00000371110   ENSP00000248924   ENSP00000406719   ENSP00000402213   ENSP00000388151  

    GCAT Human Recombinant Protein Products:

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    Novus Biologicals GCAT Proteins
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    Cloud-Clone Corp. Proteins for GCAT

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    GCAT Assay Products:

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    Cloud-Clone Corp. CLIAs for GCAT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR011282 2am3keto_CoA_ligase
     IPR001917 Aminotrans_II_pyridoxalP_BS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase

    Graphical View of Domain Structure for InterPro Entry O75600

    ProtoNet protein and cluster: O75600

    1 Blocks protein domain: IPB001917 Aminotransferase

    UniProtKB/Swiss-Prot: KBL_HUMAN, O75600
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family


    GCAT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KBL_HUMAN, O75600
    Catalytic activity: Acetyl-CoA + glycine = CoA + 2-amino-3-oxobutanoate

         Genatlas biochemistry entry for GCAT:
    glycine C-acetyltransferase,mitochondrial

         Enzyme Numbers (IUBMB): EC 2.3.1.291 2 EC 2.3.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008890glycine C-acetyltransferase activity NAS10712613
    GO:0030170pyridoxal phosphate binding IEA--
         
    GCAT for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GCAT
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    miRNA
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    miRTarBase miRNAs that target GCAT:
    hsa-mir-93-3p (MIRT038791)

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    Search for qRT-PCR Assays for microRNAs that regulate GCAT
    SwitchGear 3'UTR luciferase reporter plasmidGCAT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GCAT

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    GenScript: all cDNA clones in your preferred vector (see all 2): GCAT (NM_014291)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCAT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCAT

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KBL_HUMAN, O75600: Mitochondrion (By similarity). Nucleus. Note=Translocates to the nucleus upon cold and
    osmotic stress
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus5
    cytosol2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--

    GCAT for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for GCAT About    
    See pathways by source

    SuperPathContained pathways About
    1Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for GCAT):
        Glycine, serine and threonine metabolism

    UniProtKB/Swiss-Prot: KBL_HUMAN, O75600
    Pathway: Amino-acid degradation; L-threonine degradation via oxydo-reductase pathway; glycine from L-threonine:
    step 2/2


    GCAT for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GCAT: 

              Amino Acid Metabolism II in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for GCAT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for GCAT (O756003 ENSP000002489244) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BECN1Q144573I2D: score=1 
    CAMKK2Q96RR43I2D: score=1 
    CLN3Q132863I2D: score=1 
    SQSTM1Q135013I2D: score=1 
    WIPI2Q9Y4P83I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process NAS10712613
    GO:0008152metabolic process ----
    GO:0009058biosynthetic process IEA--
    GO:0019518L-threonine catabolic process to glycine IEA--

    GCAT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GCAT (KBL)

    5 HMDB Compounds for GCAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    L-2-Amino-3-oxobutanoic acid(2S)-2-amino-3-oxobutanoate (see all 10)----
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    2 DrugBank Compounds for GCAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17146529
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor11318637

    7 Novoseek inferred chemical compound relationships for GCAT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    2-amino-3-ketobutyrate 98.3 10 10712613 (2), 17688197 (2), 11318637 (1), 17146529 (1) (see all 5)
    7-keto-8-aminopelargonic acid 95.4 3 8468290 (1), 8112347 (1)
    pyridoxal 73.3 2 10712613 (1), 7880831 (1)
    5-aminolevulinic acid 67.9 1 8112347 (1)
    pyridoxal 5-phosphate 60.2 6 11318637 (3)
    threonine 45.9 6 10712613 (1), 11318637 (1)
    serine 20.3 1 12781953 (1)



    GCAT for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GCAT gene (2 alternative transcripts): 
    NM_001171690.1  NM_014291.3  

    Unigene Cluster for GCAT:

    Glycine C-acetyltransferase
    Hs.54609  [show with all ESTs]
    Unigene Representative Sequence: NM_001171690
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323205(uc003aua.2) ENST00000248924(uc003atz.3) ENST00000445195
    ENST00000415371 ENST00000478203 ENST00000426858 ENST00000451984
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidGCAT 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat GCAT
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): GCAT (NM_014291)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GCAT
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCAT
      QuantiTect SYBR Green Assays in human, mouse, rat GCAT
      QuantiFast Probe-based Assays in human, mouse, rat GCAT

    Additional mRNA sequence: 

    AF077740.1 AK123190.1 AK290093.1 BC014457.1 

    5 DOTS entries:

    DT.111891  DT.99943555  DT.312356  DT.100777986  DT.100777988 

    Selected AceView cDNA sequences (see all 131):

    BM018723 NM_014291 BM715489 AI763375 AA541628 BI251895 AU099328 AU105308 
    CR603831 BX101962 BU526482 CA311625 BU739455 AI972753 BI857953 AI814342 
    AW196667 AI804669 BV196019 BQ680679 AI924201 AI468008 BF973814 BG720482 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GCAT (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10
    SP1:                                            -     -                             -                             -         
    SP2:                          -                 -     -                             -                                       
    SP3:                          -                 -     -                                                                     
    SP4:                          -     -           -     -                                                                     
    SP5:                          -     -           -                                                                           


    ECgene alternative splicing isoforms for GCAT

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GCAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAAGAGAG
    GCAT Expression
    About this image


    GCAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Kidney (Urinary System)
             Metanephros
    GCAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GCAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.54609

    UniProtKB/Swiss-Prot: KBL_HUMAN, O75600
    Tissue specificity: Strongly expressed in heart, brain, liver and pancreas. Also found in lung

        Pathway & Disease-focused RT2 Profiler PCR Array including GCAT: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for GCAT
    OriGene qSTAR qPCR primer pairs in human, mouse for GCAT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCAT
    QuantiTect SYBR Green Assays in human, mouse, rat GCAT
    QuantiFast Probe-based Assays in human, mouse, rat GCAT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCAT

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GCAT gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gcat1 , 5 glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme more1, 5 86.86(n)1
    91.35(a)1
      15 (37.70 cM)5
    269121  NM_013847.41  NP_038875.31 
     790308745 
    chicken
    (Gallus gallus)
    Aves --
    --
    Uncharacterized protein
    83(a)
    79(a)
    1 ↔ many
    1 ↔ many
    1(50986027-50990348)
    AADN03018723.1(12455-16196)
    lizard
    (Anolis carolinensis)
    Reptilia GCAT6
    glycine C-acetyltransferase
    83(a)
    1 ↔ 1
    5(24004687-24020980)
    African clawed frog
    (Xenopus laevis)
    Amphibia gcat-prov2 glycine C-acetyltransferase (2-amino-3-ketobutyrate more 75.17(n)    BC047258.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.23012 Danio rerio cDNA clone IMAGE6789719, partial cds 73.56(n)    BC056328.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG103611 , 3 glycine C-acetyltransferase3
    CG103611
    68(a)3
    64.03(n)1
    66.91(a)1
      68E13
    393331  NM_140252.21  NP_648509.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T25B9.11 , 3 glycine C-acetyltransferase3
    T25B9.11
    54(a)3
    57.31(n)1
    64.3(a)1
      IV(10748587-10750328)3
    1779681  NM_069590.41  NP_501991.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HEM16
    5-aminolevulinate synthase, catalyzes the first st...
    22(a)
    1 → many
    IV(927452-929098) YDR232W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons BIOF1 BIOF 43.81(n)
    35.93(a)
      830339  NM_203002.3  NP_974731.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07364001 Os01g0736400 45.06(n)
    37.46(a)
      4327870  NM_001050709.2  NP_001044174.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GCAT gene
    ALAS22  ALAS12  
    2 SIMAP similar genes for GCAT using alignment to 4 protein entries:     KBL_HUMAN (see all proteins):
    ALAS2    SPTLC3

    GCAT for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for GCAT
    PGOHUM00000247826


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GCAT (see all 305)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012412231,2
    --38203952(+) GCAGGA/CGCGCT 2 -- ut510--------
    rs2003364031,2
    --38203958(+) GCGCTC/TGGGCG 2 -- ut510--------
    rs1394289151,2
    --38203975(+) GAGCGA/GTGTGG 4 M V mis10--------
    rs2021836021,2
    C--38203979(+) GATGTA/GGCCTG 4 * W stg10--------
    rs786103321,2
    C,F--38204029(+) GCCGCC/TGCGCA 4 R C mis11Minor allele frequency- T:0.03WA 118
    rs1995954021,2
    --38204033(+) CCGCGC/TACAGT 4 A V mis10--------
    rs1888589871,2
    --38204072(+) GGAGGA/GGGAGC 4 E G mis10--------
    rs7101871,2,,4
    C,F,A,H--38204089(+) GCATCT/CGCGGA 4 /R /C mis1 ese322Minor allele frequency- C:0.42EA NA MN NS WA CSA EU 4397
    rs1380253661,2
    C,F--38204130(+) ACGTCC/TCGTCA 4 S syn11Minor allele frequency- T:0.00NA 3414
    rs751825671,2
    C,F--38204180(+) CGCTCC/G/TGTTCC 2 -- int12WA NA 238

    HapMap Linkage Disequilibrium report for GCAT (38203912 - 38213183 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GCAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv4966n71CNV Loss21882294
    nsv915035CNV Loss21882294
    dgv4967n71CNV Loss21882294
    dgv4965n71CNV Loss21882294
    dgv1406e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GCAT
    DNA2.0 Custom Variant and Variant Library Synthesis for GCAT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607422    OMIM disorders: --

    3 diseases for GCAT:    
    About MalaCards
    labyrinthitis    malaria    cerebritis


    GCAT for disorders           About GeneDecksing

    Genetic Association Database (GAD): GCAT
    Human Genome Epidemiology (HuGE) Navigator: GCAT (3 documents)

    Export disorders for GCAT gene to outside databases

    (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)
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    PubMed articles for GCAT gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with GCAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human and murine 2-amino-3-ketobutyrate coenzyme A ligase cDNAs. (PubMed id 10712613)1, 2, 9 Edgar A.J. and Polak J.M. (Eur. J. Biochem. 2000)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. 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. (Genome Res. 2004)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    5. Three-dimensional structure of 2-amino-3-ketobutyrate CoA ligase from Escherichia coli complexed with a PLP-substrate intermediate: inferred reaction mechanism. (PubMed id 11318637)7, 9 Schmidt A....Cygler M. (Biochemistry 2001)
    6. Nuclear translocation of 2-amino-3-ketobutyrate coenzyme A ligase by cold and osmotic stress. (PubMed id 17688197)2, 9 Hoshino A. and Fujii H. (Cell Stress Chaperones 2007)
    7. Mechanism and substrate stereochemistry of 2-amino-3-oxobutyrate CoA ligase: implications for 5-aminolevulinate synthase and related enzymes. (PubMed id 17146529)7, 9 Bashir Q....Akhtar M. (Chem. Commun. (Camb.) 2006)
    8. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (J. Cell. Sci. 2012)
    9. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23464 HGNC: 4188 AceView: GCAT Ensembl:ENSG00000100116 euGenes: HUgn23464
    ECgene: GCAT Kegg: 23464 H-InvDB: GCAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GCAT Pharmacogenomics, SNPs, Pathways

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

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



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