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PC pyruvate carboxylase [ Homo sapiens (human) ]

Gene ID: 5091, updated on 12-Apr-2014
Official Symbol
PCprovided by HGNC
Official Full Name
pyruvate carboxylaseprovided by HGNC
Primary source
HGNC:8636
See related
Ensembl:ENSG00000173599; HPRD:02032; 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]
Location :
11q13.4-q13.5
Sequence :
Chromosome: 11; NC_000011.10 (66848522..66958376, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 80 Neighboring gene ferritin, light polypeptide 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 microRNA 3163 Neighboring gene chromosome 11 open reading frame 86 Neighboring gene synaptotagmin XII Neighboring gene microRNA 6860

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
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
 
DNA binding IEA
Inferred from Electronic Annotation
more info
 
biotin binding IEA
Inferred from Electronic Annotation
more info
 
biotin carboxylase activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
pyruvate carboxylase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
biotin metabolic process TAS
Traceable Author Statement
more info
 
carbohydrate metabolic process TAS
Traceable Author Statement
more info
 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glucose metabolic process TAS
Traceable Author Statement
more info
 
lipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
oxaloacetate metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyruvate metabolic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
vitamin metabolic process TAS
Traceable Author Statement
more info
 
water-soluble vitamin metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrial inner membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
Preferred Names
pyruvate carboxylase, mitochondrial
Names
pyruvate carboxylase, mitochondrial
pyruvic carboxylase
NP_000911.2
NP_001035806.1
NP_071504.2

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 proteins identical to 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
    Related
    ENSP00000377530, OTTHUMP00000235156, ENST00000393958, OTTHUMT00000393115
    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  2. NM_001040716.1NP_001035806.1  pyruvate carboxylase, mitochondrial precursor

    See proteins identical to 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
    Related
    ENSP00000377532, ENST00000393960
    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  3. NM_022172.2NP_071504.2  pyruvate carboxylase, mitochondrial precursor

    See proteins identical to 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
    Related
    ENSP00000377527, OTTHUMP00000235155, ENST00000393955, OTTHUMT00000393114
    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000011.10

    Range
    66848522..66958376, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718578.1XP_006718641.1  

    See proteins identical to XP_006718641.1

    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  2. XM_006718577.1XP_006718640.1  

    See proteins identical to XP_006718640.1

    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  3. XM_005274031.2XP_005274088.1  

    See proteins identical to XP_005274088.1

    UniProtKB/Swiss-Prot
    P11498
    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  4. XM_005274032.2XP_005274089.1  

    See proteins identical to XP_005274089.1

    UniProtKB/Swiss-Prot
    P11498
    Conserved Domains (7) summary
    cd06850
    Location:11111177
    Blast Score: 243
    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:565848
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    smart00878
    Location:375482
    Blast Score: 432
    Biotin_carb_C; Biotin carboxylase C-terminal domain
    PRK12999
    Location:331178
    Blast Score: 4794
    PRK12999; pyruvate carboxylase; Reviewed
    pfam00289
    Location:37145
    Blast Score: 454
    CPSase_L_chain; Carbamoyl-phosphate synthase L chain, N-terminal domain
    pfam02436
    Location:8611061
    Blast Score: 735
    PYC_OADA; Conserved carboxylase domain
    cl17255
    Location:151360
    Blast Score: 655
    ATP-grasp_4; ATP-grasp domain
  5. XM_006718579.1XP_006718642.1  

    Conserved Domains (4) summary
    cd06850
    Location:604670
    Blast Score: 241
    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
    Blast Score: 1233
    DRE_TIM_PC_TC_5S; Pyruvate carboxylase and Transcarboxylase 5S, carboxyltransferase domain
    PRK09282
    Location:60671
    Blast Score: 1215
    PRK09282; pyruvate carboxylase subunit B; Validated
    pfam02436
    Location:354554
    Blast Score: 731
    PYC_OADA; Conserved carboxylase domain

Alternate HuRef

Genomic

  1. AC_000143.1 Alternate HuRef

    Range
    62944043..63053644, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    66499596..66607614, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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