Gene: Pc

Basic information

Tag Content
Uniprot ID Q05920
Entrez ID
Genbank protein ID AAA39737.1; AAH55030.1;
Genbank nucleotide ID
Ensembl protein ID
Ensembl nucleotide ID
Gene name Pyruvate carboxylase, mitochondrial
Gene symbol Pc
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 13525591
Functional description Pyruvate carboxylase catalyzes a 2-step reaction, involving the ATP-dependent carboxylation of the covalently attached biotin in the first step and the transfer of the carboxyl group to pyruvate in the second. Catalyzes in a tissue specific manner, the initial reactions of glucose (liver, kidney) and lipid (adipose tissue, liver, brain) synthesis from pyruvate.
Sequence
MLKFQTVRGG LRLLGVRRSS SAPVASPNVR RLEYKPIKKV MVANRGEIAI RVFRACTELG 60
IRTVAVYSEQ DTGQMHRQKA DEAYLIGRGL APVQAYLHIP DIIKVAKENG VDAVHPGYGF 120
LSERADFAQA CQDAGVRFIG PSPEVVRKMG DKVEARAIAI AAGVPVVPGT DSPISSLHEA 180
HEFSNTFGFP IIFKAAYGGG GRGMRVVHSY EELEENYTRA YSEALAAFGN GALFVEKFIE 240
KPRHIEVQIL GDQYGNILHL YERDCSIQRR HQKVVEIAPA THLDPQLRSR LTSDSVKLAK 300
QVGYENAGTV EFLVDKHGKH YFIEVNSRLQ VEHTVTEEIT DVDLVHAQIH VSEGRSLPDL 360
GLRQENIRIN GCAIQCRVTT EDPARSFQPD TGRIEVFRSG EGMGIRLDNA SAFQGAVISP 420
HYDSLLVKVI AHGKDHPTAA TKMSRALAEF RVRGVKTNIP FLQNVLNNQQ FLAGTVDTQF 480
IDENPELFQL RPAQNRAQKL LHYLGHVMVN GPTTPIPVNV SPSPVDPAVP VVPIGPPPAG 540
FRDILLREGP EGFARAVRNH QGLLLMDTTF RDAHQSLLAT RVRTHDLKKI APYVAHNFNK 600
LFSMENWGGA TFDVAMRFLY ECPWRRLQEL RELIPNIPFQ MLLRGANAVG YTNYPDNVVF 660
KFCEVAKENG MDVFRVFDSL NYLPNMLLGM EAAGSAGGVV EAAISYTGDV ADPSRTKYSL 720
EYYMGLAEEL VRAGTHILCI KDMAGLLKPA ACTMLVSSLR DRFPDLPLHI HTHDTSGAGV 780
AAMLACAQAG ADVVDVAVDS MSGMTSQPSM GALVACTKGT PLDTEVPLER VFDYSEYWEG 840
ARGLYAAFDC TATMKSGNSD VYENEIPGGQ YTNLHFQAHS MGLGSKFKEV KKAYVEANQM 900
LGDLIKVTPS SKIVGDLAQF MVQNGLSRAE AEAQAEELSF PRSVVEFLQG YIGIPHGGFP 960
EPFRSKVLKD LPRIEGRPGA SLPPLNLKEL EKDLIDRHGE EVTPEDVLSA AMYPDVFAQF 1020
KDFTATFGPL DSLNTRLFLQ GPKIAEEFEV ELERGKTLHI KALAVSDLNR AGQRQVFFEL 1080
NGQLRSILVK DTQAMKEMHF HPKALKDVKG QIGAPMPGKV IDIKVAAGDK VAKGQPLCVL 1140
SAMKMETVVT SPMEGTIRKV HVTKDMTLEG DDLILEIE 1178

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004736 pyruvate carboxylase activityISO
GO:0004736 pyruvate carboxylase activityIBA
GO:0005524 ATP bindingISO
GO:0009374 biotin bindingISO
GO:0031406 carboxylic acid bindingISO
GO:0042802 identical protein bindingISO
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006090 pyruvate metabolic processISO
GO:0006090 pyruvate metabolic processIBA
GO:0006094 gluconeogenesisIEA
GO:0006094 gluconeogenesisISO
GO:0006094 gluconeogenesisIBA
GO:0006107 oxaloacetate metabolic processISO
GO:0006629 lipid metabolic processIEA
GO:0010629 negative regulation of gene expressionISO
GO:0019074 viral RNA genome packagingISO
GO:0044791 positive regulation by host of viral release from host cellISO
GO:0044794 positive regulation by host of viral processISO
GO:0071073 positive regulation of phospholipid biosynthetic processISO

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmIBA
GO:0005739 mitochondrionISO
GO:0005739 mitochondrionHDA
GO:0005739 mitochondrionIDA
GO:0005743 mitochondrial inner membraneHDA
GO:0005759 mitochondrial matrixIEA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0007 Acetylation
KW-0067 ATP-binding
KW-0092 Biotin
KW-0312 Gluconeogenesis
KW-0436 Ligase
KW-0444 Lipid biosynthesis
KW-0443 Lipid metabolism
KW-0464 Manganese
KW-0479 Metal-binding
KW-0496 Mitochondrion
KW-0511 Multifunctional enzyme
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0670 Pyruvate
KW-1185 Reference proteome
KW-0809 Transit peptide

Interpro

InterPro ID InterPro Term
IPR013785 Aldolase_TIM
IPR011761 ATP-grasp
IPR005481 BC-like_N
IPR001882 Biotin_BS
IPR011764 Biotin_carboxylation_dom
IPR005482 Biotin_COase_C
IPR000089 Biotin_lipoyl
IPR003379 Carboxylase_cons_dom
IPR005479 CbamoylP_synth_lsu-like_ATP-bd
IPR016185 PreATP-grasp_dom_sf
IPR000891 PYR_CT
IPR005930 Pyruv_COase
IPR011054 Rudment_hybrid_motif
IPR011053 Single_hybrid_motif

PROSITE

PROSITE ID PROSITE Term
PS50975 ATP_GRASP
PS50979 BC
PS00188 BIOTIN
PS50968 BIOTINYL_LIPOYL
PS50991 PYR_CT

Pfam

Pfam ID Pfam Term
PF02785 Biotin_carb_C
PF00289 Biotin_carb_N
PF00364 Biotin_lipoyl
PF02786 CPSase_L_D2
PF00682 HMGL-like
PF02436 PYC_OADA