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PCCA Gene

protein-coding   GIFtS: 66
GCID: GC13P100741

Propionyl CoA Carboxylase, Alpha Polypeptide

(Previous names: propionyl Coenzyme A carboxylase, alpha polypeptide)
  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
Propionyl CoA Carboxylase, Alpha Polypeptide1 2     Propanoyl-CoA:Carbon Dioxide Ligase Alpha Subunit2
Propionyl Coenzyme A Carboxylase, Alpha Polypeptide1 2     Propionyl-CoA Carboxylase Alpha Chain, Mitochondrial2
EC 6.4.1.33 8     PCCase Subunit Alpha3
PccA Complementation Group2     Propanoyl-CoA:Carbon Dioxide Ligase Subunit Alpha3
PCCase Alpha Subunit2     EC 6.4.18

External Ids:    HGNC: 86531   Entrez Gene: 50952   Ensembl: ENSG000001751987   OMIM: 2320005   UniProtKB: P051653   

Export aliases for PCCA gene to outside databases

Previous GC identifers: GC13P099101 GC13P095128 GC13P099577 GC13P098439 GC13P099539 GC13P081336


(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 PCCA Gene:
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA
carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding
the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, May 2010)

GeneCards Summary for PCCA Gene:
PCCA (propionyl CoA carboxylase, alpha polypeptide) is a protein-coding gene. Diseases associated with PCCA include pcca-related propionic acidemia, and propionic acidemia. GO annotations related to this gene include biotin binding and enzyme binding. An important paralog of this gene is MCCC1.




(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_000013.11  NT_009952.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCCA gene promoter:
         HOXA9   HOXA9B   NCX/Ncx   En-1   Meis-1   Meis-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCCA promoter sequence
   Search Chromatin IP Primers for PCCA

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


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

Entrez Gene cytogenetic band: 13q32   Ensembl cytogenetic band:  13q32.3   HGNC cytogenetic band: 13q32

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

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P100741:  view genomic region     (about GC identifiers)

Start:
100,741,269 bp from pter      End:
101,182,691 bp from pter
Size:
441,423 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: PCCA_HUMAN, P05165 (See protein sequence)
Recommended Name: Propionyl-CoA carboxylase alpha chain, mitochondrial precursor  
Size: 728 amino acids; 80059 Da
Cofactor: Biotin
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits
Sequence caution: Sequence=AAA60035.1; Type=Frameshift; Positions=374, 378, 380, 395; Sequence=AAH00140.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAK61392.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAA32763.1; Type=Frameshift; Positions=23;
2 PDB 3D structures from and Proteopedia for PCCA:
2CQY (3D)        2JKU (3D)    
Secondary accessions: B4DKY8 B4DPF9 C9JPQ8 Q15979 Q8WXQ7
Alternative splicing: 3 isoforms:  P05165-1   P05165-2   P05165-3   

Explore the universe of human proteins at neXtProt for PCCA: NX_P05165

Explore proteomics data for PCCA at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCCA (P05165) (see all 6)
     AGTVEFL  EAMKMQNS  KILVANRGEI  QEAASSFGDDR 


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

    REFSEQ proteins (3 alternative transcripts): 
    NP_000273.2  NP_001121164.1  NP_001171475.1  

    ENSEMBL proteins: 
     ENSP00000365462   ENSP00000396050   ENSP00000400740   ENSP00000390850   ENSP00000411194  
     ENSP00000399413   ENSP00000365463   ENSP00000365456  
    Reactome Protein details: P05165

    PCCA Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for PCCA
    OriGene Protein Over-expression Lysate for PCCA
    OriGene MassSpec for PCCA
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    Novus Biologicals PCCA Protein
    Novus Biologicals PCCA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    PCCA Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for PCCA
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for PCCA
    LSBio Antibodies in human, mouse, rat for PCCA

    PCCA Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PCCA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Propionyl-CoA carboxylase alpha subunit
    Carboxylases

    Selected InterPro protein domains (see all 12):
     IPR000089 Biotin_lipoyl
     IPR005481 CarbamoylP_synth_lsu_N
     IPR016185 PreATP-grasp_dom
     IPR011761 ATP-grasp
     IPR005482 Biotin_COase_C

    Graphical View of Domain Structure for InterPro Entry P05165

    ProtoNet protein and cluster: P05165

    2 Blocks protein domains:
    IPB000089 Biotin/lipoyl attachment
    IPB001882 Biotin-requiring enzyme


    UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165
    Similarity: Contains 1 ATP-grasp domain
    Similarity: Contains 1 biotin carboxylation domain
    Similarity: Contains 1 biotinyl-binding domain


    PCCA 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: PCCA_HUMAN, P05165
    Catalytic activity: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA

         Genatlas biochemistry entry for PCCA:
    propionyl-CoA carboxylase,alpha polypeptide,biotin-dependent,mitochondrial conversion of propionyl CoA to
    methylmalonyl CoA,branched chain valine,isoleucine catabolism,energy pathway

         Enzyme Numbers (IUBMB): EC 6.4.1.31 2 EC 6.4.12

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004075biotin carboxylase activity IEA--
    GO:0004658propionyl-CoA carboxylase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0008716D-alanine-D-alanine ligase activity ----
         
    PCCA for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pcca):
     behavior/neurological  homeostasis/metabolism  integument  liver/biliary system  mortality/aging 
     renal/urinary system 

    PCCA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pccatm1Tmiy for PCCA

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCCA
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PCCA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCCA
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCCA

    miRNA
    Products:
        
    miRTarBase miRNAs that target PCCA:
    hsa-mir-455-5p (MIRT040742), hsa-mir-26b-5p (MIRT029589)

    Block miRNA regulation of human, mouse, rat PCCA using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PCCA
    SwitchGear 3'UTR luciferase reporter plasmidPCCA 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PCCA
    Predesigned siRNA for gene silencing in human, mouse, rat PCCA

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PCCA

    Clone
    Products:
         
    OriGene clones in human, mouse for PCCA (see all 18)
    OriGene ORF clones in mouse, rat for PCCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PCCA (NM_000282)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCA

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PCCA
    Browse ESI BIO Cell Lines and PureStem Progenitors for PCCA 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCA


    (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
    PCCA_HUMAN, P05165: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ----
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    PCCA 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 PCCA About   (see all 8)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Propionyl-CoA catabolism0.00
    methylmalonyl pathway0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Defective BTD causes biotidinase deficiency
    Defective BTD causes biotidinase deficiency1.00
    Metabolism of vitamins and cofactors1.00
    Defective AMN causes hereditary megaloblastic anemia 11.00
    Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
    Defective MMAA causes methylmalonic aciduria type cblA1.00
    Defective MUT causes methylmalonic aciduria mut type1.00
    Defective CD320 causes methylmalonic aciduria1.00
    Defects in cobalamin (B12) metabolism1.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    5superpathway of methionine degradation
    superpathway of methionine degradation
    2-oxobutanoate degradation I0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for PCCA
        methylmalonyl pathway
    superpathway of methionine degradation
    2-oxobutanoate degradation I

    3 Reactome Pathways for PCCA
        Propionyl-CoA catabolism
    Defective HLCS causes multiple carboxylase deficiency
    Biotin transport and metabolism


    5 Kegg Pathways  (Kegg details for PCCA):
        Valine, leucine and isoleucine degradation
    Glyoxylate and dicarboxylate metabolism
    Propanoate metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165
    Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3


    PCCA for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PCCA: 

              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for PCCA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PCCA (P051652, 3 ENSP000003654624) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PARP2Q9UGN52, 3, ENSP000002504164MINT-8202339 I2D: score=1 STRING: ENSP00000250416
    PCCBP051663, ENSP000002516544I2D: score=1 STRING: ENSP00000251654
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    YWHABP319463I2D: score=1 
    ACAA2ENSP000002850934STRING: ENSP00000285093
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006768biotin metabolic process TAS--
    GO:0008152metabolic process ----

    PCCA 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 PCCA

    8 HMDB Compounds for PCCA    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Biotin(+)-Biotin (see all 42)58-85-5--
    Methylmalonyl-CoA(R)-methylmalonyl-CoA (see all 12)104809-02-1--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    Propionyl-CoAPropionyl-CoA (see all 8)317-66-8--
    S-Methylmalonyl-CoA(S)-Methylmalonyl-CoA (see all 2)73173-91-8--
    Spermidine1,5,10-Triazadecane (see all 15)124-20-9--

    1 DrugBank Compound for PCCA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--15623830 12385775 17139284 9311592 17016423

    6 Novoseek inferred chemical compound relationships for PCCA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcca 99.3 91 8434582 (6), 12559849 (6), 15464417 (6), 19099776 (5) (see all 32)
    propionyl coa 88.7 2 8434582 (1), 15949719 (1)
    biotin 60.7 7 9311592 (2), 12385775 (2)
    propionate 55.8 5 8434582 (2), 9311592 (1), 19699272 (1)
    lysine 14.1 1 15748688 (1)
    atp 0 2 15464417 (1), 12385775 (1)



    PCCA 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 PCCA gene (3 alternative transcripts): 
    NM_000282.3  NM_001127692.2  NM_001178004.1  

    Unigene Cluster for PCCA:

    Propionyl CoA carboxylase, alpha polypeptide
    Hs.80741  [show with all ESTs]
    Unigene Representative Sequence: AL122056
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376285(uc001voo.3) ENST00000485946 ENST00000424527 ENST00000443601
    ENST00000458283 ENST00000413170 ENST00000428969 ENST00000376286(uc010aga.3)
    ENST00000376279(uc010tiz.2)
    miRNA
    Products:
         
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    Search for qRT-PCR Assays for microRNAs that regulate PCCA
    SwitchGear 3'UTR luciferase reporter plasmidPCCA 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PCCA
    Predesigned siRNA for gene silencing in human, mouse, rat PCCA
    Clone
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    OriGene ORF clones in mouse, rat for PCCA
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): PCCA (NM_000282)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCCA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCA
    Primer
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    OriGene qPCR primer pairs and template standards for PCCA
    OriGene qSTAR qPCR primer pairs in human, mouse for PCCA
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PCCA
      QuantiTect SYBR Green Assays in human, mouse, rat PCCA
      QuantiFast Probe-based Assays in human, mouse, rat PCCA

    Additional mRNA sequence: 

    AF385926.1 AK027256.1 AK055982.1 AK225288.1 AK225299.1 AK296771.1 AK298318.1 AK315503.1 
    AL122056.1 BC000140.2 M13572.1 M26121.1 S79219.1 X14608.1 Z36837.1 

    24 DOTS entries:

    DT.116089  DT.92062413  DT.305424  DT.120792988  DT.120793019  DT.75153041  DT.100023746  DT.97845441 
    DT.75183769  DT.100749664  DT.75158993  DT.92450626  DT.95076014  DT.100749665  DT.120792882  DT.95076009 
    DT.100024251  DT.100803162  DT.102840884  DT.120793006  DT.91950617  DT.92450630  DT.92450638  DT.95076017 

    Selected AceView cDNA sequences (see all 210):

    BP374134 BU687770 AA243068 AI301489 AW631306 BQ029477 AI201847 BE302246 
    BE047731 CA423534 S55656 CA437126 AI801264 BU608534 AK027256 BU688930 
    AA534566 AA481881 BM669583 BC000140 BM698796 BP362843 BG426535 BQ004757 

    GeneLoc Exon Structure


    (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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    PCCA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGCTTTCAC
    PCCA Expression
    About this image


    PCCA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Oviduct
    PCCA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCCA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.80741
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PCCA: 
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCA

    (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 PCCA gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcca1 , 5 propionyl-Coenzyme A carboxylase, alpha polypeptide less1, 5 86.74(n)1
    89.64(a)1
      14 (65.99 cM)5
    1108211  NM_144844.21  NP_659093.21 
     1225343245 
    chicken
    (Gallus gallus)
    Aves PCCA1 propionyl CoA carboxylase, alpha polypeptide 81.93(n)
    84.01(a)
      418774  XM_416970.4  XP_416970.2 
    lizard
    (Anolis carolinensis)
    Reptilia PCCA6
    propionyl CoA carboxylase, alpha polypeptide
    79(a)
    1 ↔ 1
    3(99366299-99649987)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.257982 Xenopus laevis transcribed sequence with moderate similarity to protein pirA27883 (H.sapiens) A27883 propionyl-CoA carboxylase (EC 6.4.1.3) alpha chain precursor - human less 82.74(n)    48054699 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.237822 Transcribed sequence with moderate similarity to protein pirA27883 (H.sapiens) A27883 propionyl-CoA carboxylase (EC 6.4.1.3) alpha chain precursor - human less 76.15(n)    BM534568.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F27D9.53
    pcca-11
    Propionyl-coA carboxylase alpha chain
    precursor less3
    pcca-11
    58(a)3
    59.29(n)1
    60.62(a)1
      X(7693050-7696223)3
    1810261  NM_076892.41  NP_509293.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUR1,26
    Urea amidolyase, contains both urea carboxylase an...
    12(a)
    1 → many
    II(636703-642210) YBR208C
    soybean
    (Glycine max)
    eudicotyledons AF007100.12   -- 73.91(n)    AF007100.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCCA gene
    MCCC12  
    4 SIMAP similar genes for PCCA using alignment to 6 protein entries:     PCCA_HUMAN (see all proteins):
    metastasis-associated gene    MCCC1    PC    DKFZp686B20267

    PCCA for paralogs           About GeneDecksing



    (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 PCCA (see all 8814)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1181695281,2,,4
    C,FPropionic acidemia type I (PA-1)4 --81946893(+) CAACTG/TGGAGC 6 W L mis11Minor allele frequency- T:0.03EA 120
    VAR_0238444
    Propionic acidemia type I (PA-1)4--see VAR_0238442 C R mis40--------
    VAR_0091004
    Propionic acidemia type I (PA-1)4--see VAR_0091002 G R mis40--------
    VAR_0090884
    Propionic acidemia type I (PA-1)4--see VAR_0090882 R W mis40--------
    VAR_0090954
    Propionic acidemia type I (PA-1)4--see VAR_0090952 G V mis40--------
    VAR_0090964
    Propionic acidemia type I (PA-1)4--see VAR_0090962 R Q mis40--------
    VAR_0090904
    Propionic acidemia type I (PA-1)4--see VAR_0090902 I T mis40--------
    VAR_0090914
    Propionic acidemia type I (PA-1)4--see VAR_0090912 M K mis40--------
    VAR_0090974
    Propionic acidemia type I (PA-1)4--see VAR_0090972 P L mis40--------
    VAR_0090944
    Propionic acidemia type I (PA-1)4--see VAR_0090942 M K mis40--------

    HapMap Linkage Disequilibrium report for PCCA (100741269 - 100991269 bp, first 250kb of PCCA)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PCCA (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747879CNV Deletion23290073
    esv2490241CNV Deletion19546169
    esv2747877CNV Deletion23290073
    esv2669958CNV Deletion23128226
    esv2747878CNV Deletion23290073
    esv2671626CNV Deletion23128226
    esv2668656CNV Deletion23128226
    esv2634464CNV Deletion19546169
    esv2747880CNV Deletion23290073
    nsv507729CNV Insertion20534489

    Human Gene Mutation Database (HGMD): PCCA
    Locus Specific Mutation Databases (LSDB): PCCA

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

    (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.)
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    OMIM gene information: 232000   
    OMIM disorders: 606054  
    UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165
  • Propionic acidemia type I (PA-1) [MIM:606054]: Life-threatening disease characterized by episodic
    vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental
    retardation, and intolerance to protein. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 19 diseases for PCCA:    
    About MalaCards
    pcca-related propionic acidemia    propionic acidemia    organic acidemia    biotin deficiency
    the organic acidemias: an    methylmalonic acidemia    refractive error    neutropenia
    myopia    thrombocytopenia    labyrinthitis    pneumonia
    pancreatic cancer    tuberculosis    pancreatitis    adenocarcinoma
    multiple myeloma    myeloma    cerebritis

    1 disease from the University of Copenhagen DISEASES database for PCCA:
    Propionic acidemia

    PCCA for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for PCCA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    propionic acidemia 97.8 22 9385377 (2), 12385775 (2), 15059621 (2), 18790721 (2) (see all 18)
    ketotic hyperglycinemia 89.1 1 9385377 (1)
    metabolic disorder 60.2 4 9683601 (1), 8188292 (1), 11749052 (1), 10101253 (1)
    enzyme deficiency 53 2 8434582 (1), 15059621 (1)
    cancer 0 2 9311592 (1)

    Genatlas disease: PCCA
    hyperglycinemia,ketotic,propionic acidemia A

    Genetic Association Database (GAD): PCCA
    Human Genome Epidemiology (HuGE) Navigator: PCCA (6 documents)

    Export disorders for PCCA 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 PCCA gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with PCCA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblasts. (PubMed id 8434582)1, 2, 9 Stankovics J. and Ledley F.D. (Am. J. Hum. Genet. 1993)
    2. Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. (PubMed id 12559849)1, 2, 9 Perez B.... Ugarte M. (Mol. Genet. Metab. 2003)
    3. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. (PubMed id 15059621)1, 2, 9 Yang X.... Ohura T. (Mol. Genet. Metab. 2004)
    4. Functional characterization of PCCA mutations causing propionic acidemia. (PubMed id 12385775)1, 7, 9 Clavero S....Desviat L.R. (Biochim. Biophys. Acta 2002)
    5. Structure of the PCCA gene and distribution of mutations causing propionic acidemia. (PubMed id 11592820)1, 2, 9 Campeau E....Gravel R.A. (Mol. Genet. Metab. 2001)
    6. Genetic heterogeneity in propionic acidemia patients with alpha- subunit defects: identification of five novel mutations, one of them causing instability of the protein. (PubMed id 10101253)1, 2, 9 Richard E.... Ugarte M. (Biochim. Biophys. Acta 1999)
    7. Assignment of the human gene propionyl coenzyme A carboxylase, alpha-chain, (PCCA) to chromosome 13q32 by in situ hybridization. (PubMed id 1427880)1, 3, 9 Kennerknecht I....Hameister H. (Genomics 1992)
    8. 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)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 5095 HGNC: 8653 AceView: PCCA Ensembl:ENSG00000175198 euGenes: HUgn5095
    ECgene: PCCA Kegg: 5095 H-InvDB: PCCA

    (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 PCCA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PCCA[genesymbol]

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

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



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