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PCCB Gene

protein-coding   GIFtS: 68
GCID: GC03P135969

Propionyl CoA Carboxylase, Beta Polypeptide

(Previous names: propionyl Coenzyme A carboxylase, beta polypeptide)
  See PCCB-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, Beta Polypeptide1 2
Propionyl Coenzyme A Carboxylase, Beta Polypeptide1 2
Propanoyl-CoA:Carbon Dioxide Ligase Subunit Beta2 3
PCCase Subunit Beta2 3
EC 6.4.1.33 8
Propionyl-CoA Carboxylase Beta Chain, Mitochondrial2

External Ids:    HGNC: 86541   Entrez Gene: 50962   Ensembl: ENSG000001140547   OMIM: 2320505   UniProtKB: P051663   

Export aliases for PCCB gene to outside databases

Previous GC identifers: GC03U990060 GC03P136720 GC03P137250 GC03P137290 GC03P137451 GC03P133346


(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 PCCB Gene:
The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in
the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha
subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of
propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for
this gene.(provided by RefSeq, May 2010)

GeneCards Summary for PCCB Gene:
PCCB (propionyl CoA carboxylase, beta polypeptide) is a protein-coding gene. Diseases associated with PCCB include pccb-related propionic acidemia, and propionic acidemia. GO annotations related to this gene include propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.




(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 at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCCB gene promoter:
         STAT5B   GR   NF-1   STAT5A   FOXL1   HSF2   FOXO1a   STAT3   GR-alpha   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCCB promoter sequence
   Search Chromatin IP Primers for PCCB

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


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

Entrez Gene cytogenetic band: 3q21-q22   Ensembl cytogenetic band:  3q22.3   HGNC cytogenetic band: 3q21-q22

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P135969:  view genomic region     (about GC identifiers)

Start:
135,969,148 bp from pter      End:
136,056,738 bp from pter
Size:
87,591 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: PCCB_HUMAN, P05166 (See protein sequence)
Recommended Name: Propionyl-CoA carboxylase beta chain, mitochondrial precursor  
Size: 539 amino acids; 58216 Da
Subunit: Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits
Secondary accessions: B7Z2Z4 Q16813 Q96CX0
Alternative splicing: 2 isoforms:  P05166-1   P05166-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PCCB: NX_P05166

Explore proteomics data for PCCB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PCCB (P05166) (see all 15)
     SGVIPQIS  RPWRKHAN  RKAYGGAY  GKLTARERI 


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

    REFSEQ proteins (2 alternative transcripts): 
    NP_000523.2  NP_001171485.1  

    ENSEMBL proteins: 
     ENSP00000251654   ENSP00000418307   ENSP00000420639   ENSP00000419129   ENSP00000420391  
     ENSP00000420158   ENSP00000417937   ENSP00000417253   ENSP00000417549   ENSP00000419027  
     ENSP00000419263   ENSP00000420759   ENSP00000419563   ENSP00000418020   ENSP00000419293  
    Reactome Protein details: P05166

    PCCB Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PCCB
    OriGene Custom MassSpec
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    Novus Biologicals PCCB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for PCCB 

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    PCCB Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for PCCB 


    (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 beta subunit
    Carboxylases

    3 InterPro protein domains:
     IPR011762 COA_CT_N
     IPR000022 Carboxyl_trans
     IPR011763 COA_CT_C

    Graphical View of Domain Structure for InterPro Entry P05166

    ProtoNet protein and cluster: P05166

    1 Blocks protein domain: IPB000022 Carboxyl transferase family

    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
    Similarity: Belongs to the AccD/PCCB family
    Similarity: Contains 1 carboxyltransferase domain


    Find genes that share domains with PCCB           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCCB_HUMAN, P05166
    Catalytic activity: ATP + propanoyl-CoA + HCO(3)(-) = ADP + phosphate + (S)-methylmalonyl-CoA

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

         Enzyme Number (IUBMB): EC 6.4.1.31 2

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003989acetyl-CoA carboxylase activity ----
    GO:0004658propionyl-CoA carboxylase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0016874ligase activity ----
         
    Find genes that share ontologies with PCCB           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PCCB:
     Decreased Wnt reporter activit  Increased HPV18 LCR reporter a  Increased S DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PCCB
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PCCB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PCCB

    miRNA
    Products:
        
    miRTarBase miRNAs that target PCCB:
    hsa-let-7b-5p (MIRT032255), hsa-mir-26b-5p (MIRT029293), hsa-mir-615-3p (MIRT039868), hsa-mir-155-5p (MIRT020658), hsa-mir-378a-3p (MIRT043905)

    Block miRNA regulation of human, mouse, rat PCCB using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PCCB:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidPCCB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat PCCB

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for PCCB (see all 11)
    OriGene ORF clones in mouse, rat for PCCB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PCCB (NM_000532)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCCB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCB

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


    (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
    PCCB_HUMAN, P05166: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS8188292
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--
    GO:0009317acetyl-CoA carboxylase complex ----

    Find genes that share ontologies with PCCB           About GenesLikeMe


    (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 PCCB About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Defective 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
    3Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    Propionyl-CoA catabolism0.00
    4Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with PCCB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


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

    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
    Pathway: Metabolic intermediate metabolism; propanoyl-CoA degradation; succinyl-CoA from propanoyl-CoA: step 1/3

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCCB
    Interactions:

        Search GeneGlobe Interaction Network for PCCB

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

    Selected Interacting proteins for PCCB (P051662, 3 ENSP000002516544) via UniProtKB, MINT, STRING, and/or I2D (see all 279)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000232960P678703, ENSP000003955464I2D: score=1 STRING: ENSP00000395546
    CSNK2BP678703I2D: score=1 
    ENSG00000206406P678703I2D: score=1 
    ENSG00000224398P678703I2D: score=1 
    ENSG00000224774P678703I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process ----
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006768biotin metabolic process TAS--

    Find genes that share ontologies with PCCB           About GenesLikeMe



    (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 PCCB

    8 HMDB Compounds for PCCB    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--
    L-Valine(2S)-2-Amino-3-methylbutanoate (see all 27)72-18-4--
    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--

    2 DrugBank Compounds for PCCB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Valine(2S)-2-Amino-3-methylbutanoic acid (see all 10)72-18-4target--17139284 12409268 17016423
    enzymesubstrate17139284 12409268 17016423 17139284 12409268 17016423
    Biotin(+)-cis-Hexahydro-2-oxo-1H-thieno[3,4]imidazole-4-valeric acid (see all 7)58-85-5target--15623830 17139284 9311592 17016423 14997352

    3 Novoseek inferred chemical compound relationships for PCCB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pcca 99.2 62 10502773 (6), 19099776 (5), 9311592 (4), 15059621 (4) (see all 29)
    propionyl coa 90.6 6 11245989 (2), 15949719 (1), 10094392 (1)
    biotin 40.5 4 9311592 (2), 12385775 (1)



    Find genes that share compounds with PCCB           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PCCB gene (2 alternative transcripts): 
    NM_000532.4  NM_001178014.1  

    Unigene Cluster for PCCB:

    Propionyl CoA carboxylase, beta polypeptide
    Hs.63788  [show with all ESTs]
    Unigene Representative Sequence: AB209009
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000251654(uc003eqy.2) ENST00000490504 ENST00000483687 ENST00000468777
    ENST00000462637 ENST00000466072 ENST00000484181 ENST00000482086 ENST00000471595(uc003eqz.1)
    ENST00000469217(uc011bmc.2) ENST00000465423 ENST00000478469 ENST00000474833
    ENST00000462542 ENST00000494742 ENST00000459873 ENST00000475214(uc011bmd.1)
    ENST00000465176
    miRNA
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    Block miRNA regulation of human, mouse, rat PCCB using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate PCCB:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidPCCB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PCCB
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): PCCB (NM_000532)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCB
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PCCB
      QuantiFast Probe-based Assays in human, mouse, rat PCCB

    Additional mRNA sequence: 

    AB209009.1 AF251189.1 AF251191.1 AK130359.1 AK225215.1 AK225733.1 AK295312.1 AK302522.1 
    AK303079.1 AL831978.2 BC005909.1 BC013768.1 BC018013.1 BC053661.1 M13573.1 S67325.1 
    X73424.1 

    Selected DOTS entries (see all 25):

    DT.415386  DT.95335905  DT.101964909  DT.92441646  DT.95283426  DT.101984715  DT.101984718  DT.97865771 
    DT.120900467  DT.120900469  DT.101984719  DT.75185376  DT.100045524  DT.97811438  DT.100720585  DT.92441652 
    DT.95283416  DT.100045521  DT.116168  DT.95283423  DT.95283427  DT.95317646  DT.120900475  DT.120900535 

    Selected AceView cDNA sequences (see all 272):

    BE409331 BM558262 CB989124 BI908664 BF211289 F02623 C04312 BQ954486 
    BM746383 BM744586 BG287632 BM741634 BQ646566 BQ020843 CR621266 BQ010805 
    BC013768 BM744675 CD014044 CR624803 BQ343596 CD014039 BE408707 BU619099 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PCCB (see all 16)    About this scheme

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

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:        -                                 
    SP2:                                          
    SP3:        -                                 
    SP4:        -                                 
    SP5:        -                                 


    ECgene alternative splicing isoforms for PCCB

    (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)
    About This Section

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


    PCCB 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 4 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Adrenal Gland (Endocrine System)
    PCCB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCCB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.63788
        Custom PCR Arrays for PCCB
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    (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 animals.

    Orthologs for PCCB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pccb1 , 5 propionyl Coenzyme A carboxylase, beta polypeptide1, 5 87.51(n)1
    92.76(a)1
      9 (53.09 cM)5
    669041  NM_025835.21  NP_080111.11 
     1009820325 
    chicken
    (Gallus gallus)
    Aves PCCB1 propionyl CoA carboxylase, beta polypeptide 77.65(n)
    87.3(a)
      768706  XM_001231793.3  XP_001231794.2 
    lizard
    (Anolis carolinensis)
    Reptilia PCCB6
    propionyl CoA carboxylase, beta polypeptide
    81(a)
    1 ↔ 1
    3(34792921-34814923)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC686502 propionyl-CoA carboxylase 76.59(n)    BC046371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.115182 Danio rerio cDNA clone IMAGE3815270 76.58(n)    BC058325.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F52E4.1a3
    pccb-11
    propionyl-CoA carboxylase beta3
    pccb-11
    75(a)
    (best of 2)3
    67.32(n)1
    76.32(a)1
      X(3125737-3127511)3
    1805961  NM_171648.31  NP_741743.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCCB gene
    MCCC22  
    3 SIMAP similar genes for PCCB using alignment to 15 protein entries:     PCCB_HUMAN (see all proteins):
    DKFZp451E113    L3MBTL2    MCCC2

    Find genes that share paralogs with PCCB           About GenesLikeMe



    (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 PCCB (see all 1823)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424033181,2,,4
    C,FPropionic acidemia type II (PA-2)4 non-pathogenic1136027580(+) TGCAGC/TAGTGC 4 A V mis12Minor allele frequency- T:0.00NA EU 5875
    rs1867102331,2,,4
    CPropionic acidemia type II (PA-2)4 pathogenic1136028671(+) CCACAC/TGTGCC 4 R C mis10--------
    VAR_0002784
    Propionic acidemia type II (PA-2)4--see VAR_0002782 R W mis40--------
    VAR_0002754
    Propionic acidemia type II (PA-2)4--see VAR_0002752 E K mis40--------
    VAR_0002744
    Propionic acidemia type II (PA-2)4--see VAR_0002742 R W mis40--------
    rs289348871,2,4
    Propionic acidemia type II (PA-2)4--see VAR_0090842 mis40--------
    VAR_0238504
    Propionic acidemia type II (PA-2)4--see VAR_0238502 A P mis40--------
    VAR_0238554
    Propionic acidemia type II (PA-2)4--see VAR_0238552 I L mis40--------
    VAR_0090804
    Propionic acidemia type II (PA-2)4--see VAR_0090802 L M mis40--------
    VAR_0002724
    Propionic acidemia type II (PA-2)4--see VAR_0002722 S R mis40--------

    HapMap Linkage Disequilibrium report for PCCB (135969148 - 136056738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PCCB (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725957CNV Deletion23290073
    esv1521994CNV Deletion17803354
    esv2662772CNV Deletion23128226
    esv2725956CNV Deletion23290073
    nsv821587CNV Deletion20802225
    esv2665912CNV Deletion23128226
    nsv514170CNV Loss21397061
    dgv37n50CNV Loss21212237
    nsv877519CNV Loss21882294
    esv9585CNV Loss19470904

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

    Site Specific Mutation Identification with PCR Assays
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    (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: 232050   
    OMIM disorders: 606054  
    UniProtKB/Swiss-Prot: PCCB_HUMAN, P05166
  • Propionic acidemia type II (PA-2) [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

  • 5 diseases for PCCB:    
    About MalaCards
    pccb-related propionic acidemia    propionic acidemia    biotinidase deficiency    the organic acidemias: an
    organic acidemia

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

    Find genes that share disorders with PCCB           About GenesLikeMe

    3 Novoseek inferred disease relationships for PCCB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    propionic acidemia 98.4 31 8188292 (2), 11749052 (2), 12757933 (2), 15059621 (2) (see all 22)
    enzyme deficiency 60.4 2 12743028 (1), 15059621 (1)
    metabolic disorder 54.6 4 9683601 (1), 8188292 (1), 11749052 (1), 10101253 (1)

    Genatlas disease: PCCB
    hyperglycinemia,ketotic,propionic acidemia B

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

    Export disorders for PCCB 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 PCCB gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with PCCB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Overview of mutations in the PCCA and PCCB genes causing propionic acidemia. (PubMed id 10502773)1, 2, 9 Ugarte M.... Gravel R.A. (Hum. Mutat. 1999)
    2. 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)
    3. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. (PubMed id 11749052)1, 2, 9 Muro S.... Ugarte M. (Mol. Genet. Metab. 2001)
    4. 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)
    5. Identification of novel mutations in the PCCB gene in European propionic acidemia patients. (PubMed id 10447268)1, 2, 9 Muro S.... Ugarte M. (Hum. Mutat. 1999)
    6. Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. (PubMed id 9683601)1, 2, 9 Rodriguez-Pombo P.... Ugarte M. (Am. J. Hum. Genet. 1998)
    7. Correction of the metabolic defect in propionic acidemia fibroblasts by microinjection of a full-length cDNA or RNA transcript encoding the propionyl-CoA carboxylase beta subunit. (PubMed id 8188292)1, 2, 9 Lamhonwah A.-M.... Gravel R.A. (Genomics 1994)
    8. Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. (PubMed id 12189489)1, 2, 9 Yorifuji T.... Nakahata T. (Hum. Genet. 2002)
    9. Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. (PubMed id 8411997)1, 2, 9 Tahara T.... Fenton W.A. (J. Inherit. Metab. Dis. 1993)
    10. Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts. (PubMed id 20031576)1, 4, 9 Dehghan A....Folsom A.R. (Circ Cardiovasc Genet 2009)

    (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: 5096 HGNC: 8654 AceView: PCCB Ensembl:ENSG00000114054 euGenes: HUgn5096
    ECgene: PCCB Kegg: 5096 H-InvDB: PCCB

    (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 PCCB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PCCB[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 PCCB gene:
    Search GeneIP for patents involving PCCB

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



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