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PC pyruvate carboxylase [ Homo sapiens (human) ]

Gene ID: 5091, updated on 9-Feb-2020

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

Genomic context

Location:
11q13.2
Exon count:
32
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (66848420..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

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
Pyruvate carboxylase deficiency Compare labs

NHGRI 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.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

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
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
biotin metabolic process TAS
Traceable Author Statement
more info
 
gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
viral RNA genome packaging IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 

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)

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 109.20191205

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
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