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

PCCB Gene

protein-coding   GIFtS: 68
GCID: GC03P135969

Propionyl CoA Carboxylase, Beta Polypeptide

(Previous names: propionyl Coenzyme A carboxylase, beta 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 propionic acidemia, and pccb-related propionic acidemia, and among its related super-pathways are Metabolic pathways and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include propionyl-CoA carboxylase activity and ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PCCB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05166

  • 4/15 DME Specific Peptides for PCCB (P05166) (see all 15)
     SGVIPQIS  RPWRKHAN  RKAYGGAY  GKLTARERI 

    PCCB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

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

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

    PCCB for ontologies           About GeneDecksing



    PCCB Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PCCB
    OriGene Custom Antibody Services for PCCB
    GenScript Custom Superior Antibodies Services for PCCB
    Novus Biologicals PCCB Antibodies
    Abcam antibodies for PCCB
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for PCCB
    LSBio Antibodies in human, mouse, rat for PCCB 

    Assay Products for PCCB: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PCCB
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PCCB
    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)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Propionyl-CoA carboxylase β 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


    PCCB 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 ----
         
    PCCB for ontologies           About GeneDecksing


    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 - Custom generated mouse model solutions for PCCB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCCB

       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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCCB
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PCCB:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidPCCB 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCCB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PCCB
    Sirion Biotech Customized adenovirus for overexpression of PCCB

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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
    Sirion Biotech Customized lentivirus for stable overexpression of PCCB 
                         Customized lentivirus expression plasmids for stable overexpression of PCCB 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PCCB
    Search LifeMap BioReagents cell lines for PCCB
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCB


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PCCB About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39
    Propanoate metabolism0.31
    4Propionyl-CoA catabolism
    Propionyl-CoA catabolism0.60
    5Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Mitochondrial Fatty Acid Beta-Oxidation0.53

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for PCCB (see all 8)
        Metabolism
    Metabolism of vitamins and cofactors
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation
    Propionyl-CoA catabolism


    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


    PCCB for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/269 Interacting proteins for PCCB (P051662, 3 ENSP000002516544) via UniProtKB, MINT, STRING, and/or I2D (see all 269)

    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): 5/8 biological process terms (GO ID links to tree view) (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--

    PCCB for ontologies           About GeneDecksing



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

    PCCB for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about PCCB

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCCB
    1 QIAGEN miScript miRNA Assays for microRNA that regulate PCCB:
    hsa-miR-433
    SwitchGear 3'UTR luciferase reporter plasmidPCCB 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for PCCB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCB
    Clone
    Products:
         
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCCB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCB
    Sirion Biotech Customized lentivirus for stable overexpression of PCCB 
                         Customized lentivirus expression plasmids for stable overexpression of PCCB 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for PCCB
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCCB
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCB
      QIAGEN 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 

    24/25 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 

    24/272 AceView cDNA sequences (see all 272):

    BQ010805 BQ020843 BG287632 BM741634 AI559324 CB215148 W69833 CR614392 
    AU119871 AV706879 BM716691 CR618864 BM744586 BU738446 BE670742 BU855853 
    BI820796 BE220380 BG674836 CR609162 AK130359 BU616909 BG563542 BM981693 

    GeneLoc Exon Structure

    5/16 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™, 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

    PCCB expression in normal human tissues (normalized intensities)      PCCB embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             cord blood   

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

    SOURCE GeneReport for Unigene cluster: Hs.63788
        SABiosciences Custom PCR Arrays for PCCB
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for PCCB
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCCB
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCB
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCCB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCB

    (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 common ancestor of animals.

    Orthologs for PCCB gene from 6/15 species (see all 15)    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_001231793.2  XP_001231794.2 
    lizard
    (Anolis carolinensis)
    Reptilia PCCB6
    Uncharacterized protein
    82(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 F52E4.1b3
    pccb-11
    Protein PCCB-11 75(a)
    (best of 2)3
    67.32(n)1
    76.32(a)1
      X(3124849-3127511)3
    1805961  NM_171648.21  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)
    About This Section
    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

    PCCB 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) 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

    10/1823 SNPs in PCCB are shown (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
    ----------
    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--------
    VAR_0090844
    Propionic acidemia type II (PA-2)4--see VAR_0090842 T I 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--------
    VAR_0090864
    Propionic acidemia type II (PA-2)4--see VAR_0090862 N D mis40--------
    VAR_0238484
    Propionic acidemia type II (PA-2)4--see VAR_0238482 V M mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PCCB
    DNA2.0 Custom Variant and Variant Library Synthesis for PCCB

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

  • 11 diseases for PCCB:    About MalaCards
    propionic acidemia    pccb-related propionic acidemia    biotinidase deficiency    blepharophimosis, ptosis, and epicanthus inversus syndrome
    the organic acidemias: an    blepharophimosis    organic acidemia    metabolic disorders
    neutropenia    thrombocytopenia    adenocarcinoma

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

    PCCB for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PCCB gene, integrated from 9 sources (see all 81):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (1993)
    10. Association of novel genetic Loci with circulating fi brinogen levels: a genome-wide association study in 6 population-based cohorts. (PubMed id 20031576)1, 4, 9 Dehghan A....Gieger C. (2009)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5096 HGNC: 8654 AceView: PCCB Ensembl:ENSG00000114054 euGenes: HUgn5096
    ECgene: PCCB Kegg: 5096 H-InvDB: PCCB

    (According to HUGE)
    About This Section
      --

    (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 PCCB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PCCB

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



    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
    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 Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PCCB   OriGene RNAi products in human, mouse, rat for PCCB  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for PCCB  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PCCB  
     OriGene qSTAR qPCR primer pairs in human, mouse for PCCB   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PCCB   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PCCB   OriGene Custom Protein Services for PCCB  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PCCB
     QIAGEN SeqTarget long-range PCR primers for resequencing PCCB
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCCB
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCCB
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCCB
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCCB
     GenScript Custom Purified and Recombinant Proteins Services for PCCB GenScript cDNA clones with any tag delivered in your preferred vector for PCCB
     GenScript Custom Assay Services for PCCB GenScript Custom Superior Antibodies Services for PCCB
     GenScript Custom overexpressing Cell Line Services for PCCB 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 PCCB promoter
     Search Chromatin IP Primers for PCCB
     RT2 qPCR Primer Assay in human, mouse, rat PCCB
     Search GNC Networks for PCCB
     SABiosciences Custom PCR Arrays for PCCB
     Search Tocris compounds for PCCB
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     PCCB antibodies
     PCCB lysates
     Antibodies for PCCB
     See all of Abcam's Antibodies, Kits and Proteins for PCCB
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for PCCB
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCCB
     SwitchGear 3'UTR luciferase reporter plasmids for PCCB
     SwitchGear Promoter luciferase reporter plasmids for PCCB
     ThermoFisher Antibody for PCCB
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCCB
     inGenious Targeting Laboratory - Custom generated mouse model solutions for PCCB
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PCCB
    Customized:
     lentivirus for stable overexpression of PCCB
     lentivirus expression plasmids for stable overexpression of PCCB
     adenovirus for overexpression of PCCB
     LSBio Antibodies in human, mouse, rat for PCCB
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    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

    Hot genes      Disease genes      PCCB gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4