Format

Send to:

Choose Destination
    • Showing Current items.

    PC pyruvate carboxylase [ Homo sapiens (human) ]

    Gene ID: 5091, updated on 8-Jul-2021

    Summary

    Official Symbol
    PCprovided by HGNC
    Official Full Name
    pyruvate carboxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:8636
    See related
    Ensembl:ENSG00000173599 MIM:608786
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCB
    Summary
    This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in fat (RPKM 30.0), liver (RPKM 19.3) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    11q13.2
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66848420..66958418, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66615891..66725854, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 80 Neighboring gene ferritin light chain pseudogene 6 Neighboring gene Ras converting CAAX endopeptidase 1 Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene RNA, U7 small nuclear 23 pseudogene Neighboring gene uncharacterized LOC105369355 Neighboring gene microRNA 3163 Neighboring gene chromosome 11 open reading frame 86 Neighboring gene synaptotagmin 12 Neighboring gene microRNA 6860

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    GeneReviews: Not available
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    GeneReviews: Not available
    Pyruvate carboxylase deficiency Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables biotin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyruvate carboxylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation by host of viral process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation by host of viral release from host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pyruvate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in viral RNA genome packaging IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    pyruvate carboxylase, mitochondrial
    Names
    pyruvic carboxylase
    NP_000911.2
    NP_001035806.1
    NP_071504.2
    XP_005274088.1
    XP_005274089.1
    XP_006718641.1
    XP_006718642.1
    XP_011543388.1
    XP_011543389.1
    XP_016873357.1
    XP_016873358.1
    XP_016873359.1
    XP_016873360.1
    XP_016873361.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008319.1 RefSeqGene

      Range
      4994..114957
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000920.4NP_000911.2  pyruvate carboxylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_000911.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) results from the use of a more distal promoter. Transcript variants 1-3 encode the same protein.
      Source sequence(s)
      AP000485, AP003176, BC011617, DA542083
      Consensus CDS
      CCDS8152.1
      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000377530.2, ENST00000393958.7
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    2. NM_001040716.2NP_001035806.1  pyruvate carboxylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001035806.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) also results from the use of a more distal promoter, however, it contains an additional 5' non-coding exon, hence has a longer 5' UTR compared to transcript variant 1. Transcript variants 1-3 encode the same protein.
      Source sequence(s)
      AP000485, AP003176, BC011617, CN267865, DA542083
      Consensus CDS
      CCDS8152.1
      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000377532.1, ENST00000393960.7
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    3. NM_022172.3NP_071504.2  pyruvate carboxylase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_071504.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' non-coding exon resulting from the use of a more proximal promoter, hence has a distinct 5' UTR compared to transcript variant 1. Transcript variants 1-3 encode the same protein.
      Source sequence(s)
      AP000485, AP003176, S72370, U30891
      Consensus CDS
      CCDS8152.1
      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000377527.2, ENST00000393955.6
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      66848420..66958418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017871.1XP_016873360.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000435905.2, ENST00000529047.6
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    2. XM_017017869.1XP_016873358.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    3. XM_017017870.1XP_016873359.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000498302.1, ENST00000652125.1
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    4. XM_017017868.1XP_016873357.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Related
      ENSP00000498406.1, ENST00000651036.1
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    5. XM_006718578.3XP_006718641.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006718641.1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    6. XM_017017872.2XP_016873361.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    7. XM_011545086.2XP_011543388.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011543388.1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    8. XM_005274031.4XP_005274088.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005274088.1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    9. XM_005274032.4XP_005274089.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005274089.1

      UniProtKB/Swiss-Prot
      P11498
      UniProtKB/TrEMBL
      A0A024R5C5
      Conserved Domains (1) summary
      PRK12999
      Location:331178
      PRK12999; pyruvate carboxylase; Reviewed
    10. XM_006718579.3XP_006718642.1  pyruvate carboxylase, mitochondrial isoform X3

      Conserved Domains (4) summary
      cd06850
      Location:604670
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      cd07937
      Location:58341
      DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
      PRK09282
      Location:60671
      PRK09282; pyruvate carboxylase subunit B; Validated
      pfam02436
      Location:354553
      PYC_OADA; Conserved carboxylase domain
    11. XM_011545087.2XP_011543389.1  pyruvate carboxylase, mitochondrial isoform X2

      Conserved Domains (5) summary
      cd06850
      Location:679745
      biotinyl_domain; The biotinyl-domain or biotin carboxyl carrier protein (BCCP) domain is present in all biotin-dependent enzymes, such as acetyl-CoA carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, geranyl-CoA carboxylase, ...
      cd07937
      Location:133416
      DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
      PRK09282
      Location:135746
      PRK09282; pyruvate carboxylase subunit B; Validated
      pfam02436
      Location:429628
      PYC_OADA; Conserved carboxylase domain
      cl08365
      Location:2450
      Biotin_carb_C; Biotin carboxylase C-terminal domain
    Support Center