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    PC pyruvate carboxylase [ Homo sapiens (human) ]

    Gene ID: 5091, updated on 10-Dec-2024

    Summary

    Official Symbol
    PCprovided by HGNC
    Official Full Name
    pyruvate carboxylaseprovided by HGNC
    Primary source
    HGNC:HGNC:8636
    See related
    Ensembl:ENSG00000173599 MIM:608786; AllianceGenome:HGNC:8636
    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
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    Try the new Transcript table

    Genomic context

    Location:
    11q13.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66848420..66958383, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66844694..66952886, complement)
    RS_2024_09 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 TOP6B like initiator of meiotic double strand breaks Neighboring gene ferritin light chain pseudogene 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66580049-66580832 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:66609109-66609235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3603 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66610783-66611489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66617715-66618294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66618295-66618873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5058 Neighboring gene Ras converting CAAX endopeptidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644024-66644524 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66644525-66645025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66645752-66646490 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66649447-66650184 Neighboring gene leucine rich repeat and fibronectin type III domain containing 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66650185-66650922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66672605-66673252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5060 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66688620-66689560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:66690541-66691041 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:66691815-66692466 Neighboring gene RNA, U7 small nuclear 23 pseudogene Neighboring gene microRNA 3163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3608 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:66743456-66743959 Neighboring gene Sharpr-MPRA regulatory region 11253 Neighboring gene chromosome 11 open reading frame 86 Neighboring gene uncharacterized LOC124902849

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (269 hits/1271 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding  
    enables biotin binding PubMed 
    enables identical protein binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables pyruvate carboxylase activity PubMed 
    enables pyruvate carboxylase activity  
    enables pyruvate carboxylase activity PubMed 
    Process Evidence Code Pubs
    involved_in NADH metabolic process PubMed 
    involved_in NADP metabolic process PubMed 
    involved_in gluconeogenesis  
    involved_in gluconeogenesis  
    involved_in gluconeogenesis  
    involved_in lipid metabolic process  
    involved_in negative regulation of gene expression PubMed 
    involved_in positive regulation by host of viral process PubMed 
    involved_in pyruvate metabolic process  
    involved_in pyruvate metabolic process  
    involved_in viral RNA genome packaging PubMed 
    involved_in viral release from host cell PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm  
    located_in cytoplasm PubMed 
    located_in cytosol  
    located_in mitochondrial matrix  
    located_in mitochondrion PubMed 
    located_in mitochondrion 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
    XP_047283014.1
    XP_054224998.1
    XP_054224999.1
    XP_054225000.1
    XP_054225001.1
    XP_054225002.1
    XP_054225003.1
    XP_054225004.1
    XP_054225005.1
    XP_054225006.1
    XP_054225007.1

    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_000920.4 → NP_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
      B4DN00, P11498, Q16705
      Related
      ENSP00000377530.2, ENST00000393958.7
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    2. NM_001040716.2 → NP_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
      B4DN00, P11498, Q16705
      Related
      ENSP00000377532.1, ENST00000393960.7
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    3. NM_022172.3 → NP_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
      B4DN00, P11498, Q16705
      Related
      ENSP00000377527.2, ENST00000393955.6
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66848420..66958383 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718578.4 → XP_006718641.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_006718641.1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    2. XM_017017871.2 → XP_016873360.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Related
      ENSP00000435905.2, ENST00000529047.6
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    3. XM_017017869.2 → XP_016873358.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    4. XM_017017870.2 → XP_016873359.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Related
      ENSP00000498302.1, ENST00000652125.1
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    5. XM_017017868.2 → XP_016873357.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Related
      ENSP00000498406.1, ENST00000651036.1
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    6. XM_017017872.3 → XP_016873361.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    7. XM_011545086.3 → XP_011543388.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011543388.1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    8. XM_005274031.5 → XP_005274088.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005274088.1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    9. XM_005274032.5 → XP_005274089.1  pyruvate carboxylase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005274089.1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
      Conserved Domains (1) summary
      PRK12999
      Location:33 → 1178
      PRK12999; pyruvate carboxylase; Reviewed
    10. XM_047427058.1 → XP_047283014.1  pyruvate carboxylase, mitochondrial isoform X3

    11. XM_006718579.4 → XP_006718642.1  pyruvate carboxylase, mitochondrial isoform X3

      Conserved Domains (4) summary
      cd06850
      Location:604 → 670
      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:58 → 341
      DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
      PRK09282
      Location:60 → 671
      PRK09282; pyruvate carboxylase subunit B; Validated
      pfam02436
      Location:354 → 553
      PYC_OADA; Conserved carboxylase domain
    12. XM_011545087.3 → XP_011543389.1  pyruvate carboxylase, mitochondrial isoform X2

      Conserved Domains (5) summary
      cd06850
      Location:679 → 745
      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:133 → 416
      DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
      PRK09282
      Location:135 → 746
      PRK09282; pyruvate carboxylase subunit B; Validated
      pfam02436
      Location:429 → 628
      PYC_OADA; Conserved carboxylase domain
      cl08365
      Location:24 → 50
      Biotin_carb_C; Biotin carboxylase C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66844694..66952886 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369027.1 → XP_054225002.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    2. XM_054369025.1 → XP_054225000.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    3. XM_054369029.1 → XP_054225004.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    4. XM_054369023.1 → XP_054224998.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    5. XM_054369024.1 → XP_054224999.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    6. XM_054369028.1 → XP_054225003.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    7. XM_054369026.1 → XP_054225001.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    8. XM_054369030.1 → XP_054225005.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    9. XM_054369031.1 → XP_054225006.1  pyruvate carboxylase, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B4DN00, P11498, Q16705
    10. XM_054369032.1 → XP_054225007.1  pyruvate carboxylase, mitochondrial isoform X2

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