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PC pyruvate carboxylase [ Homo sapiens (human) ]

Gene ID: 5091, updated on 8-Jul-2018
Official Symbol
PCprovided by HGNC
Official Full Name
pyruvate carboxylaseprovided by HGNC
Primary source
HGNC:HGNC:8636
See related
Ensembl:ENSG00000173599 MIM:608786; Vega:OTTHUMG00000167099
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
Location:
11q13.2
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (66848522..66958418, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (66615993..66725847, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Pyruvate carboxylase deficiency Compare labs

NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
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NHGRI GWA Catalog
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  • Biotin transport and metabolism, organism-specific biosystem (from REACTOME)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

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

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
    5001..114851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000920.3NP_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)
    BC011617, DA542083
    Consensus CDS
    CCDS8152.1
    UniProtKB/Swiss-Prot
    P11498
    UniProtKB/TrEMBL
    A0A024R5C5
    Related
    ENSP00000377530.2, OTTHUMP00000235156, ENST00000393958.6, OTTHUMT00000393115
    Conserved Domains (1) summary
    PRK12999
    Location:331178
    PRK12999; pyruvate carboxylase; Reviewed
  2. NM_001040716.1NP_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)
    BC011617, CN267865, DA542083
    Consensus CDS
    CCDS8152.1
    UniProtKB/Swiss-Prot
    P11498
    UniProtKB/TrEMBL
    A0A024R5C5
    Related
    ENSP00000377532.1, ENST00000393960.5
    Conserved Domains (1) summary
    PRK12999
    Location:331178
    PRK12999; pyruvate carboxylase; Reviewed
  3. NM_022172.2NP_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)
    S72370, U30891
    Consensus CDS
    CCDS8152.1
    UniProtKB/Swiss-Prot
    P11498
    UniProtKB/TrEMBL
    A0A024R5C5
    Related
    ENSP00000377527.2, OTTHUMP00000235155, ENST00000393955.6, OTTHUMT00000393114
    Conserved Domains (1) summary
    PRK12999
    Location:331178
    PRK12999; pyruvate carboxylase; Reviewed

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    66848522..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
    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
    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
    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
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