• Gene id: 5091

Gene Summary

• Gene Symbol: PC   Gene   UCSC   Ensembl
• Aliases: PCB
• Gene name: pyruvate carboxylase
• Alternate names: pyruvate carboxylase, mitochondrial, pyruvic carboxylase,
• Gene location: 11q13.2 (30586037: 30572938)     Exons: 5     NC_000016.10
• Gene summary(Entrez): 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. Pyruva
• OMIM: 608786

SNPs

rs113994148

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000011.10   g.66849026_66849027del
NC_000011.9   g.66616497_66616498del
NG_008319.1   g.114350_114351del
NM_000920.4   c.3409_3410del
NM_000920.3   c.3409_3410del
NM_022172.3   c.3409_3410del
NM_022172.2   c.3409_3410del
NM_001040716.2   c.3409_3410del
NM_0010407  

rs113994147

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850398G>A
NC_000011.9   g.66617869G>A
NG_008319.1   g.112979C>T
NM_000920.4   c.2540C>T
NM_000920.3   c.2540C>T
NM_022172.3   c.2540C>T
NM_022172.2   c.2540C>T
NM_001040716.2   c.2540C>T
NM_001040716.1   c.2540C>T
XM_005274031.4   c.2540C>T
XM_0052740  

rs113994146

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851149G>T
NC_000011.9   g.66618620G>T
NG_008319.1   g.112228C>A
NM_000920.4   c.2114C>A
NM_000920.3   c.2114C>A
NM_022172.3   c.2114C>A
NM_022172.2   c.2114C>A
NM_001040716.2   c.2114C>A
NM_001040716.1   c.2114C>A
XM_005274031.4   c.2114C>A
XM_0052740  

rs113994145

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851880C>T
NC_000011.9   g.66619351C>T
NG_008319.1   g.111497G>A
NM_000920.4   c.1892G>A
NM_000920.3   c.1892G>A
NM_022172.3   c.1892G>A
NM_022172.2   c.1892G>A
NM_001040716.2   c.1892G>A
NM_001040716.1   c.1892G>A
XM_005274031.4   c.1892G>A
XM_0052740  

rs113994144

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66852559T>C
NC_000011.9   g.66620030T>C
NG_008319.1   g.110818A>G
NM_000920.4   c.1705A>G
NM_000920.3   c.1705A>G
NM_022172.3   c.1705A>G
NM_022172.2   c.1705A>G
NM_001040716.2   c.1705A>G
NM_001040716.1   c.1705A>G
XM_005274031.4   c.1705A>G
XM_0052740  

rs113994143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66863791G>A
NC_000011.9   g.66631262G>A
NG_008319.1   g.99586C>T
NM_000920.4   c.1351C>T
NM_000920.3   c.1351C>T
NM_022172.3   c.1351C>T
NM_022172.2   c.1351C>T
NM_001040716.2   c.1351C>T
NM_001040716.1   c.1351C>T
XM_005274031.4   c.1351C>T
XM_00527403  

rs113994141

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871824G>A
NC_000011.9   g.66639295G>A
NG_008319.1   g.91553C>T
NM_000920.4   c.184C>T
NM_000920.3   c.184C>T
NM_022172.3   c.184C>T
NM_022172.2   c.184C>T
NM_001040716.2   c.184C>T
NM_001040716.1   c.184C>T
XM_005274031.4   c.184C>T
XM_005274031.1   c.1

rs28940591

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871368A>C
NC_000011.10   g.66871368A>G
NC_000011.9   g.66638839A>C
NC_000011.9   g.66638839A>G
NG_008319.1   g.92009T>G
NG_008319.1   g.92009T>C
NM_000920.4   c.434T>G
NM_000920.4   c.434T>C
NM_000920.3   c.434T>G
NM_000920.3   c.434T>C
NM_022172.3   c.

rs28940590

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850918C>A
NC_000011.9   g.66618389C>A
NG_008319.1   g.112459G>T
NM_000920.4   c.2229G>T
NM_000920.3   c.2229G>T
NM_022172.3   c.2229G>T
NM_022172.2   c.2229G>T
NM_001040716.2   c.2229G>T
NM_001040716.1   c.2229G>T
XM_005274031.4   c.2229G>T
XM_0052740  

rs28940589

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851944C>T
NC_000011.9   g.66619415C>T
NG_008319.1   g.111433G>A
NM_000920.4   c.1828G>A
NM_000920.3   c.1828G>A
NM_022172.3   c.1828G>A
NM_022172.2   c.1828G>A
NM_001040716.2   c.1828G>A
NM_001040716.1   c.1828G>A
XM_005274031.4   c.1828G>A
XM_0052740  

rs7104156

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871781T>A
NC_000011.9   g.66639252T>A
NG_008319.1   g.91596A>T
NM_000920.4   c.227A>T
NM_000920.3   c.227A>T
NM_022172.3   c.227A>T
NM_022172.2   c.227A>T
NM_001040716.2   c.227A>T
NM_001040716.1   c.227A>T
XM_005274031.4   c.227A>T
XM_005274031.1   c.2

Protein Summary

• Protein general information: P11498  
  • Name: Pyruvate carboxylase, mitochondrial (EC 6.4.1.1) (Pyruvic carboxylase) (PCB)
  • Length: 1178  
  • Mass: 129634
• Sequence:

  MLKFRTVHGGLRLLGIRRTSTAPAASPNVRRLEYKPIKKVMVANRGEIAIRVFRACTELGIRTVAIYSEQDTGQM
  HRQKADEAYLIGRGLAPVQAYLHIPDIIKVAKENNVDAVHPGYGFLSERADFAQACQDAGVRFIGPSPEVVRKMG
  DKVEARAIAIAAGVPVVPGTDAPITSLHEAHEFSNTYGFPIIFKAAYGGGGRGMRVVHSYEELEENYTRAYSEAL
  AAFGNGALFVEKFIEKPRHIEVQILGDQYGNILHLYERDCSIQRRHQKVVEIAPAAHLDPQLRTRLTSDSVKLAK
  QVGYENAGTVEFLVDRHGKHYFIEVNSRLQVEHTVTEEITDVDLVHAQIHVAEGRSLPDLGLRQENIRINGCAIQ
  CRVTTEDPARSFQPDTGRIEVFRSGEGMGIRLDNASAFQGAVISPHYDSLLVKVIAHGKDHPTAATKMSRALAEF
  RVRGVKTNIAFLQNVLNNQQFLAGTVDTQFIDENPELFQLRPAQNRAQKLLHYLGHVMVNGPTTPIPVKASPSPT
  DPVVPAVPIGPPPAGFRDILLREGPEGFARAVRNHPGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYVAHNFSK
  LFSMENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNYPDNVVFKFCEVAKENGMDVFR
  VFDSLNYLPNMLLGMEAAGSAGGVVEAAISYTGDVADPSRTKYSLQYYMGLAEELVRAGTHILCIKDMAGLLKPT
  ACTMLVSSLRDRFPDLPLHIHTHDTSGAGVAAMLACAQAGADVVDVAADSMSGMTSQPSMGALVACTRGTPLDTE
  VPMERVFDYSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQYTNLHFQAHSMGLGSKFKEVKKAYVEANQM
  LGDLIKVTPSSKIVGDLAQFMVQNGLSRAEAEAQAEELSFPRSVVEFLQGYIGVPHGGFPEPFRSKVLKDLPRVE
  GRPGASLPPLDLQALEKELVDRHGEEVTPEDVLSAAMYPDVFAHFKDFTATFGPLDSLNTRLFLQGPKIAEEFEV
  ELERGKTLHIKALAVSDLNRAGQRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQIGAPMPGKVIDIKV
  VAGAKVAKGQPLCVLSAMKMETVVTSPMEGTVRKVHVTKDMTLEGDDLILEIE

• Structural information:
  • Protein Domains: (36..48-)
    (/note="Biotin-carboxylation)
    (156..35-)
    (/note="ATP-grasp-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00409-)
    (563..83-)
    (/note="Pyruvate-carboxyltransferase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01151-)
    (1109..-)
  • Interpro: IPR013785  IPR011761  IPR005481  IPR001882  IPR011764   IPR005482  IPR000089  IPR003379  IPR005479  IPR016185  IPR000891  IPR005930  IPR011054  IPR011053  
  • Prosite: PS50975 PS50979 PS00188 PS50968 PS50991
  • PDB: 3BG3 3BG9
  • PDBsum: 3BG3 3BG9
  • DIP: 46372
  • STRING: ENSP00000377532
• Other Databases: GeneCards:  PC  Malacards:  PC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0006090	pyruvate metabolic process	IBA	biological process
GO:0004736	pyruvate carboxylase activity	IBA	molecular function
GO:0006094	gluconeogenesis	IBA	biological process
GO:0004736	pyruvate carboxylase activity	IEA	molecular function
GO:0006094	gluconeogenesis	IEA	biological process
GO:0009374	biotin binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006090	pyruvate metabolic process	IEA	biological process
GO:0008152	metabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006094	gluconeogenesis	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016874	ligase activity	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004736	pyruvate carboxylase activity	TAS	molecular function
GO:0009374	biotin binding	TAS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0004736	pyruvate carboxylase activity	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0044791	positive regulation by host of viral release from host cell	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0044794	positive regulation by host of viral process	IMP	biological process
GO:0019074	viral RNA genome packaging	IMP	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006094	gluconeogenesis	TAS	biological process
GO:0006768	biotin metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006094	gluconeogenesis	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00620	Pyruvate metabolism
hsa00020	Citrate cycle

Diseases

Associated diseases	References
Secondary hyperammonemia	KEGG:H01400
Pyruvate carboxylase deficiency	KEGG:H00073
Secondary hyperammonemia	KEGG:H01400
Pyruvate carboxylase deficiency	KEGG:H00073
pyruvate carboxylase deficiency disease	PMID:9585612
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq