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Gene Model: Pcx

NomenclatureGenomic Location
SymbolPcxChromosomeX
NamePyruvate carboxylaseLinkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesX: 2 Mbp

Molecular Function

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.

ATP + pyruvate + HCO3- = ADP + phosphate + oxaloacetate.

Molecular Function Terms:

binding
   carboxylic acid binding
      monocarboxylic acid binding
         biotin binding
   nucleotide binding
      purine nucleotide binding
         adenyl nucleotide binding
            adenyl ribonucleotide binding
               ATP binding
   vitamin binding
      biotin binding

catalytic activity
   ligase activity
      ligase activity, forming carbon-carbon bonds

Human Disease Association

Defects in PC are the cause of pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]. PC deficiency leads to lactic acidosis, mental retardation and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia.

Predicted Transcript
     1 GGGCCTCCCCCGCAGGGCTTCCGGGACGTCTTGCTGCGCGAGGGCCCCTCGGGGTTCGCC
    61 CGGGCCATCCGGCAGCACAAGGGGCTCCTGCTGATGGACACCACCTTCCGGGACGCCCAC
   121 CAGTCCCTGCTGGCCACCCGCGTGCGCACCCACGACCTCAAGCGCATCGCCCCCTTCGTG
   181 GCACACAACTTCAGCCGCCTCTTCAGCCTCGAGAACTGGGGCGGGGCCACCTTCGACGTG
   241 GCCATGCGCTTCCTGTACGAGTGCCCCTGGCGCCGCCTGCAGGAGCTGCGCGAGCTCATC
   301 CCCAACATCCCCTTCCAGATGTTGCTGCGCGGGGCCAACGCCGTGGGGTACACCAACTAC
   361 CCAGACAACTCCGTCTTCAAGTTCTGCCAGGTGGCCAAGGAGAACGGGATGGACATCTTC
   421 CGGGTGTTTGACTCCCTCAACTACCTTCCCAACATGCTGCTGGGGATGGAGGCGGCCGGC
   481 CAGGCAGGGGCCGTGGTGGAGGCGGCCATCTCCTACACGGGGGACGTCTCTGACCCTGGC
   541 CGAAGCAGCAAGTACACGCTGGACTACTACCTGGGTCTGGCCGAGGAGCTGGTCAAGGCC
   601 GGCACACACATCCTGGCCATCAAGGACATGGCGGGTGTCCTGAAGCCGCAGGCGGCCACG
   661 CTGCTGGTGGGGGCCCTGCGGGAGCGCTTCCCCAACTTGCCGCTCCACATCCACACTCAC
   721 GACACCTCCGGGGCCGGAGTGGCCTCCATGCTGGCCTGCGCCGCCGCCGGGGCCGACATC
   781 GTGGACGTCGCTGTGGATGCCATGTCGGGGATGACCTCCCAGCCCAGTATGGGCGCCATG
   841 GTGGCTTGCACCCGTGGGACGCAGCACGACACAGGCATCCAGATGGAGCGGGTCTTTGAT
   901 TACAGCGACTACTGGGAGATGGCCCGGGGCCTCTACGCCGCCTTCGACTGCACGGCCACC
   961 ATGAAGTCCGGCAACGCCGACGTCTACGAGAACGAGATCCCCGGCGGGCAGTACACCAAC
  1021 CTGCACTTCCAGGCCCACAGCATGGGGCTGGGCAGCAAGTTCAAGCAGGTCAAGAAGGCC
  1081 TACGTGGAGGCCAACAAGCTCCTGGGGGACCTCATCAAGGTGACCCCCTCCTCGAAGATT
  1141 GTGGGCGACTTGGCCCAGTTCATGGTCCAGAACAACTTGAGCCGGGAGGAAGTGGAGGCC
  1201 CAGGCGGATGAGCTCTCCTTCCCGGTTTCTGTGGTGGAGTTCCTGCAGGGATACATTGGC
  1261 ATCCCCCACGGAGGGTTCCCGGAGCCTTTCCGCTCCAAGGTGCTGAAGGACCTCCCGCGG
  1321 GTGGAGGGCCGTCCGGGGGCCTCGCTGCCGCCGCTGGACTTTGCTGCCTTGGAGCGCGAG
  1381 CTGTGCGAGCGGCACAAGGAGGAGGAGATCACCCCCGAGGACGTGGTCTCGGCCGCCATG
  1441 TATCCCAAGGTCTTCCACGAGTTCAAGGACTTCACCGCCAACTTCGGCCCCGTCGAGTGC
  1501 CTCAACACCCGCCTCTTCCTGCAGGGGCCCAACATCGCGGAGGAGTTCGAGGTGGAGCTG
  1561 GAGCGCGGGAAGACCCTGCACATCAAGGCGCTGGCGCTGGGCGACCTGAACCGGGCCGGG
  1621 CAGCGCGAGGTCTTCTTTGAGCTCAACGGGCAGCTGCGCTCCATCCTGGTCAAGGACACC
  1681 CAGGCCATGAAGGAGATGCACTTCCACCCCAAAGCGCTGAAGGACGTGAAGGGCCAGGTG
  1741 GGGGCCCCGATGCCGGGCAAGGTGGTGGAGGTGCGTGTGGCGGAGGGGGCGGCCGTGGAG
  1801 AAGGGCCAGCCGCTCTGCGTCCTGAGCGCCATGAAGATGGAGACCGTGGTCAACTCCCCC
  1861 CTCAGCGGGACCGTCAAGAAGATCCACATCAAGGTCGATGCCAGCCTGGAGGGGGACGAC
  1921 CTCCTCATGGAGATCGAGTAG

Predicted Protein Product
GPPPQGFRDVLLREGPSGFARAIRQHKGLLLMDTTFRDAHQSLLATRVRTHDLKRIAPFV
AHNFSRLFSLENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNY
PDNSVFKFCQVAKENGMDIFRVFDSLNYLPNMLLGMEAAGQAGAVVEAAISYTGDVSDPG
RSSKYTLDYYLGLAEELVKAGTHILAIKDMAGVLKPQAATLLVGALRERFPNLPLHIHTH
DTSGAGVASMLACAAAGADIVDVAVDAMSGMTSQPSMGAMVACTRGTQHDTGIQMERVFD
YSDYWEMARGLYAAFDCTATMKSGNADVYENEIPGGQYTNLHFQAHSMGLGSKFKQVKKA
YVEANKLLGDLIKVTPSSKIVGDLAQFMVQNNLSREEVEAQADELSFPVSVVEFLQGYIG
IPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDFAALERELCERHKEEEITPEDVVSAAM
YPKVFHEFKDFTANFGPVECLNTRLFLQGPNIAEEFEVELERGKTLHIKALALGDLNRAG
QREVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQVGAPMPGKVVEVRVAEGAAVE
KGQPLCVLSAMKMETVVNSPLSGTVKKIHIKVDASLEGDDLLMEIE
Protein Alignment to Mouse
sp|Q05920|PYC_MOUSE Pyruvate carboxylase, mitochondrial OS=Mus musculus GN=Pc
            PE=1 SV=1
        Length = 1178

 Score = 2658 (940.7 bits), Expect = 3.2e-277, P = 3.2e-277
 Identities = 504/646 (78%), Positives = 554/646 (85%)

Query:     1 GPPPQGFRDVLLREGPSGFARAIRQHKGLLLMDTTFRDAHQSLLATRVRTHDLKRIAPFV 60
             GPPP GFRD+LLREGP GFARA+R H+GLLLMDTTFRDAHQSLLATRVRTHDLK+IAP+V
Sbjct:   535 GPPPAGFRDILLREGPEGFARAVRNHQGLLLMDTTFRDAHQSLLATRVRTHDLKKIAPYV 594

Query:    61 AHNFSRLFSLENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNY 120
             AHNF++LFS+ENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNY
Sbjct:   595 AHNFNKLFSMENWGGATFDVAMRFLYECPWRRLQELRELIPNIPFQMLLRGANAVGYTNY 654

Query:   121 PDNSVFKFCQVAKENGMDIFRVFDSLNYLPNMLLGMXXXXXXXXXXXXXISYTGDVSDPG 180
             PDN VFKFC+VAKENGMD+FRVFDSLNYLPNMLLGM             ISYTGDV+DP 
Sbjct:   655 PDNVVFKFCEVAKENGMDVFRVFDSLNYLPNMLLGMEAAGSAGGVVEAAISYTGDVADPS 714

Query:   181 RSSKYTLDYYLGLAEELVKAGTHILAIKDMAGVLKPQAATLLVGALRERFPNLPLHIHTH 240
             R+ KY+L+YY+GLAEELV+AGTHIL IKDMAG+LKP A T+LV +LR+RFP+LPLHIHTH
Sbjct:   715 RT-KYSLEYYMGLAEELVRAGTHILCIKDMAGLLKPAACTMLVSSLRDRFPDLPLHIHTH 773

Query:   241 DTSGAGVASMLXXXXXXXXXXXXXXXXMSGMTSQPSMGAMVACTRGTQHDTGIQMERVFD 300
             DTSGAGVA+ML                MSGMTSQPSMGA+VACT+GT  DT + +ERVFD
Sbjct:   774 DTSGAGVAAMLACAQAGADVVDVAVDSMSGMTSQPSMGALVACTKGTPLDTEVPLERVFD 833

Query:   301 YSDYWEMARGLYAAFDCTATMKSGNADVYENEIPGGQYTNLHFQAHSMGLGSKFKQVKKA 360
             YS+YWE ARGLYAAFDCTATMKSGN+DVYENEIPGGQYTNLHFQAHSMGLGSKFK+VKKA
Sbjct:   834 YSEYWEGARGLYAAFDCTATMKSGNSDVYENEIPGGQYTNLHFQAHSMGLGSKFKEVKKA 893

Query:   361 YVEANKLLGDLIKVTPSSKIVGDLAQFMVQNNLSREEVEAQADELSFPVSVVEFLQGYIG 420
             YVEAN++LGDLIKVTPSSKIVGDLAQFMVQN LSR E EAQA+ELSFP SVVEFLQGYIG
Sbjct:   894 YVEANQMLGDLIKVTPSSKIVGDLAQFMVQNGLSRAEAEAQAEELSFPRSVVEFLQGYIG 953

Query:   421 IPHGGFPEPFRSKVLKDLPRVEGRPGASLPPLDFAAXXXXXXXXXXXXXITPEDVVSAAM 480
             IPHGGFPEPFRSKVLKDLPR+EGRPGASLPPL+                +TPEDV+SAAM
Sbjct:   954 IPHGGFPEPFRSKVLKDLPRIEGRPGASLPPLNLKELEKDLIDRHGEE-VTPEDVLSAAM 1012

Query:   481 YPKVFHEFKDFTANFGPVECLNTRLFLQGPNIAEEFEVELERGKTLHIKALALGDLNRAG 540
             YP VF +FKDFTA FGP++ LNTRLFLQGP IAEEFEVELERGKTLHIKALA+ DLNRAG
Sbjct:  1013 YPDVFAQFKDFTATFGPLDSLNTRLFLQGPKIAEEFEVELERGKTLHIKALAVSDLNRAG 1072

Query:   541 QREVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQVGAPMPXXXXXXXXXXXXXXX 600
             QR+VFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQ+GAPMP               
Sbjct:  1073 QRQVFFELNGQLRSILVKDTQAMKEMHFHPKALKDVKGQIGAPMPGKVIDIKVAAGDKVA 1132

Query:   601 XXQPLCVLSAMKMETVVNSPLSGTVKKIHIKVDASLEGDDLLMEIE 646
               QPLCVLSAMKMETVV SP+ GT++K+H+  D +LEGDDL++EIE
Sbjct:  1133 KGQPLCVLSAMKMETVVTSPMEGTIRKVHVTKDMTLEGDDLILEIE 1178