Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

PCCA Gene

protein-coding   GIFtS: 63
GCID: GC13P100741

propionyl CoA carboxylase, alpha polypeptide

(Previous names: propionyl Coenzyme A carboxylase, alpha polypeptide )
 Explore 10 diseases affiliated with
PCCA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PCCA    

Aliases
for PCCA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
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


Summaries
for PCCA 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 PCCA:
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)




Genomic Views
for PCCA 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_000013.10  NC_018924.1  NT_009952.14  
Regulatory elements:
   SABiosciences 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 plasmid: PCCA promoter sequence
   Search SABiosciences Chromatin IP Primers for PCCA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for PCCA 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: 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
Subcellular location: Mitochondrion matrix
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05165

    • 4/6 DME Specific Peptides for PCCA (P05165) (see all 6)
     AGTVEFL  EAMKMQNS  KILVANRGEI  QEAASSFGDDR 

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

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: PCCA
    OriGene Protein Over-expression Lysate: PCCA
    OriGene Custom Protein Services for PCCA 
    GenScript Custom Purified and Recombinant Proteins Services for PCCA
    Novus Biologicals PCCA Protein
    Novus Biologicals PCCA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix TAS--


    PCCA for ontologies           About GeneDecksing



    PCCA Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for PCCA 
    GenScript Custom Superior Antibodies Services for PCCA
    Novus Biologicals PCCA Antibodies
    Search for Antibodies for PCCA at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for PCCA

    Assay Products for PCCA: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PCCA
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for PCCA gene

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

    5/12 InterPro domains/families (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 families:
    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


    Function
    for PCCA 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): PCCA
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCCA
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PCCA
    SwitchGear 3'UTR luciferase reporter plasmid: PCCA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCCA (see all 6)
    OriGene siRNA: PCCA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCA

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA (see all 4)
    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
    Search LifeMap BioReagents cell lines for PCCA

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCA

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004075biotin carboxylase activity IEA--
    GO:0004658propionyl-CoA carboxylase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0009374biotin binding TAS3460076
    GO:0019899enzyme binding IPI19157941


    PCCA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Pccatm1Tmiy for PCCA
         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


    Pathways & Interactions
    for PCCA 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 - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    2Propionyl-CoA catabolism
    		Propionyl-CoA catabolism1.00
    		methylmalonyl pathway0.60
    3Branched-chain amino acid catabolism
    		Valine, leucine and isoleucine degradation0.39
    		Propanoate metabolism0.07
    4Glyoxylate and dicarboxylate metabolism
    		Glyoxylate and dicarboxylate metabolism1.00
    52-oxoisovalerate decarboxylation to isobutanoyl-CoA
    		2-oxobutanoate degradation I0.57

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5        Reactome Pathways for PCCA
        Propionyl-CoA catabolism
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Metabolism of lipids and lipoproteins
    Mitochondrial Fatty Acid Beta-Oxidation


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

    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

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/21 Interacting proteins for PCCA (P051652, 3 ENSP000003654624) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

    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 
    ACAA1ENSP000003336644STRING: ENSP00000333664
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0019626short-chain fatty acid catabolic process TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--


    PCCA for ontologies           About GeneDecksing



    Drugs & Compounds
    for PCCA 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

    PCCA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about PCCA 

    Transcripts
    for PCCA 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 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:             		 OriGene 3'-UTR Clone (see all 2): PCCA
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCCA
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate PCCA
    SwitchGear 3'UTR luciferase reporter plasmid: PCCA 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCCA (see all 6)
    OriGene siRNA: PCCA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA (see all 4)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PCCA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCCA
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCCA

    Additional cDNA 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 

    24/210 AceView cDNA sequences (see all 210):

    AA609177 BE047731 BU687770 S55656 AK027256 BG426535 BP362843 BE302246 
    AW473129 CA423971 CA437126 AA243068 BM669583 AA534566 BM783167 BC000140 
    BG315549 AA551867 AI801264 CR620827 AW631306 BI522855 BQ004757 BU608534 

    GeneLoc Exon Structure


    Expression
    for PCCA 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

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

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

    PCCA 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)
    Neural TubeMesencephalic Ventricular ZoneNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.80741
        SABiosciences Expression via Pathway-Focused PCR Arrays including PCCA: 
              Amino Acid Metabolism II in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PCCA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCCA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCA
    QIAGEN 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
    for PCCA 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 PCCA gene from 7/28 species (see all 28)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves PCCA1 propionyl CoA carboxylase, alpha polypeptide 81.93(n)
    84.01(a)    		   418774  XM_416970.3  XP_416970.2 
    lizard
    (Anolis carolinensis)    		 Reptilia PCCA6
    		 --
    		 86(a)
    		 1 ↔ 1
    		 3(99465050-99533089)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.257982 Xenopus laevis transcribed sequence with moderate similarity more 82.74(n)    48054699 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.237822 Transcribed sequence with moderate similarity to protein more 76.15(n)    BM534568.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea F27D9.53
    pcca-11    		 Propionyl-coA carboxylase alpha chain
    precursor3
    Protein PCCA-11    		 58(a)3
    58.79(n)1
    59.73(a)1    		   X(7693050-7696223)3
    1810261  NM_076892.31  NP_509293.11 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons CAC26
    		 biotin carboxylase
    		 40(a)
    		 possible ortholog
    		 5(13584106-13588496)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria accC6
    		 acetyl-CoA carboxylase, biotin carboxylase subunit...
    		 48(a)
    		 possible ortholog
    		 Chromosome(3403939-3405288)


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

    Paralogs
    for PCCA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for PCCA 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

    10/7181 NCBI SNPs in PCCA are shown (see all 7181)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs617498951,2
    		C,F,non-pathogenic104299675(+) TGCCTG/TTTATT 6 V F mis12Minor allele frequency- T:0.01NA EU 5867
    rs1381491791,2
    		C,pathogenic104394814(+) AGACTC/TGAAGA 6 R * stg10--------
    rs1219649571,2
    		Cpathogenic104399301(+) ATGAAA/G/TGAGAG 9 R G * mis1 stg10--------
    rs1162721031,2
    		C,F,--81334752(+) TGCAGT/GGGGAG 3 -- us2k11Minor allele frequency- G:0.02WA 118
    rs785602621,2
    		--81334883(+) CTTTCG/ACTGGG 3 -- us2k11Minor allele frequency- A:0.01NA 120
    rs95137291,2
    		C,H,--81335131(+) ATAAGT/GGAGAA 3 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs37422521,2
    		C,H--81335643(-) AGAAAC/ATGAAG 3 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs37422491,2
    		C,H,--81336223(-) TCCAGG/ATAAGG 3 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs128733201,2
    		H--81336562(+) CGGATC/TTGGCC 3 -- us2k14Minor allele frequency- T:0.00NS EA 416
    rs714396491,2
    		C,--81337258(+) TAAGTA/GGTGTT 3 -- int12Minor allele frequency- G:0.04NA 122

    HapMap Linkage Disequilibrium report for PCCA (100741269 - 100991269 bp, first 250kb of PCCA)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 10 variations for PCCA
         9 CNVs: 86996 86995 76470 76469 86999 76468 86998 101836 86997
         1 Inversion: 37149
    Human Gene Mutation Database (HGMD): PCCA

    Locus Specific Mutation Databases (LSDB): PCCA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCCA
    DNA2.0 Custom Variant and Variant Library Synthesis for PCCA

    Disorders / Diseases
    for PCCA 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
    PCCA for disorders           About GeneDecksing

    OMIM gene information: 232000   
    OMIM disorders: 606054  
    UniProtKB/Swiss-Prot: PCCA_HUMAN, P05165
  • Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:606054]. PA-1 is a life-threatening
    • disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia,
    hypogammaglobulinemia, developmental retardation, and intolerance to protein

    10 diseases for PCCA:    About MalaCards
    propionic acidemia    methylmalonic acidemia    metabolic disorders    neutropenia
    pancreatic cancer    pancreatitis    pneumonia    tuberculosis
    adenocarcinoma    mycobacterium tuberculosis

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

    5 Novoseek 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

    Human Genome Epidemiology (HuGE) Navigator: PCCA (6 documents)

    Export disorders for PCCA gene to outside databases

    Publications
    for PCCA 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 PCCA gene, integrated from 9 sources (see all 72):
    (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. (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. (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. (2004)
    4. Functional characterization of PCCA mutations causing propionic acidemia. (PubMed id 12385775)1, 7, 9 Clavero S....Desviat L.R. (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. (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. (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. (1992)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. 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)
    10. Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia. (PubMed id 10329019)1, 2 Campeau E.... Gravel R. (1999)

    External Searches for PCCA 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 PCCA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5095 HGNC: 8653 AceView: PCCA Ensembl:ENSG00000175198 euGenes: HUgn5095
    ECgene: PCCA Kegg: 5095 H-InvDB: PCCA

    Other Databases showing PCCA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PCCA 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 PCCA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCCA

    Intellectual Property
    for PCCA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
    for PCCA gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   Browse OriGene shRNA RFPs  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCCA   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PCCA  
     OriGene Protein Over-expression Lysate for PCCA   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for PCCA   OriGene 3'-UTR Clone for PCCA  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PCCA  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for PCCA   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PCCA   OriGene Custom Protein Services for PCCA  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PCCA
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCCA
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCCA
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCA
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCCA
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCA
     GenScript Custom Purified and Recombinant Proteins Services for PCCA GenScript cDNA clones with any tag delivered in your preferred vector for PCCA
     GenScript Custom Assay Services for PCCA GenScript Custom Superior Antibodies Services for PCCA
     GenScript Custom overexpressing Cell Line Services for PCCA CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in PCCA promoter
     Search Chromatin IP Primers for PCCA
     RT2 qPCR Primer Assay in human, mouse, rat PCCA
     Search GNC Networks for PCCA
     SABiosciences PCR Arrays including human, mouse, rat PCCA
     Search Tocris compounds for PCCA
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PCCA antibodies
     PCCA proteins
     PCCA lysates
     Search for Antibodies for PCCA at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for PCCA
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for PCCA
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCA
     SwitchGear 3'UTR luciferase reporter plasmids for PCCA
     SwitchGear Promoter luciferase reporter plasmids for PCCA
     ThermoFisher Antibodies for PCCA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCA
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      PCCA gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4