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Gene Model: Pck1

NomenclatureGenomic Location
SymbolPck1Chromosome2
NamePhosphoenolpyruvate carboxykinase,
cytosolic [GTP]		Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 39 Mbp

Molecular Function

Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO2.

Molecular Function Terms:

binding
   ion binding
      cation binding
         metal ion binding
   nucleotide binding
      purine nucleotide binding
         guanyl nucleotide binding
            guanyl ribonucleotide binding
               GDP binding
               GTP binding

catalytic activity
   lyase activity
      carbon-carbon lyase activity
         carboxy-lyase activity
            phosphoenolpyruvate carboxykinase activity
   transferase activity
      transferase activity, transferring phosphorus-containing groups
         kinase activity

Human Disease Association

Defects in PCK1 are the cause of cytosolic phosphoenolpyruvate carboxykinase deficiency (C-PEPCKD) [MIM:261680]. A metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autoposy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait.

Predicted Transcript
     1 ATGCCGTCCCAGCAGCAGAAACCGAGAAACATCCCCTCAAAGGTCGTCCAGGGTGACCTG
    61 AAGTGTCTGGCACCAGATGTGAGGGATTTCATTGAAAGCAATGCCAAGCTGTGCCAACCA
   121 GAGGCCATCCACATCTGTGATGGCTCGGAGAATGAGAACAAGAAGATCCTGGAGCTGATG
   181 GAAGAACAGGGCATGATTAAAAAGCTGGGGAAATACGAGAACTGCTGGTTGGCTTGCACA
   241 GATCCAAGGGATGTGGCAAGAATTGAAAGCAAAACGGTCATTGTCACTCAGGAGCGGCGA
   301 GATACCATCCCAGTCCCCAGAAGTGGAGTAAGCCAGCTGGGACGCTGGATGTCAGAAGAA
   361 GACTTTGAGAAAGCCTTTAGTGTCAGATTCCCTGGATGCATGGCAGCAGGGCGCACCATG
   421 TATGTTATCCCATTCAGCATGGGACCCATTGGTTCTCCTTTGTCCAAGTTTGGGATTGAA
   481 TTGACAGATTCTCCTTATGTGGTGGCCAGCATGAGAATCATGACACGGATGGGAACATCA
   541 GTCCTAGAAGCTCTTGGCAACGGGGAATTTGTGAAATGCCTTCATTCAGTCGGGTGCCCT
   601 TTGCCTTTAAAAAGAGCTCTGGTGTGCAACTGGCCATGTAATCCAGATTTGACTCTGATC
   661 GCTCACATCCCGGATCACAGAGAGATCATTTCTTTTGGAAGCGGTTACGGAGGAAATTCC
   721 CTGCTGGGAAAGAAGTGCTTTGCTCTCAGGATTGCTAGTCGGATTGCCAAGGAAGAGGGC
   781 TGGCTTGCTGAGCACATGCTGATCTTGGGCATCACCAACCCAGAGGGCAAAAAGAAATAC
   841 TTTGCTGCAGCCTTCCCCAGTGCATGCGGAAAAACCAACTTGGCCATGATGAAACCAACT
   901 CTGCCAGGATGGAAAATTGAGTGTGTTGGAGACGATATTGCTTGGATGAAATTTGATGAC
   961 CAAGGTAATTTAAGAGCAATCAATCCAGAGAATGGCTTTTTTGGAGTTGCTCCTGGAACA
  1021 TCAGTGAAAACCAACCCCAATGCGATAAAGACCATTCAGAAGAACACCATCTTCACCAAT
  1081 GTGGGGCTAACCAGTGATGGAGATGTCTATTGGGAAGGCATTGATAAAGAACTTGACCCA
  1141 GGAGTGACAATCACGTCATGGAAAAACAAAGAATGGACAGCCAAGAATGAGGAACCCTGT
  1201 GCACACCCCAATTCCCGGTTCTGCACTCCGGCCAGCCAATGTCCCATTATTGATCCTGCC
  1261 TGGGAGGCTCCGGAAGGAGTGCCAATTGAAGGGATCATATTTGGAGGGCGGAGACCTGAA
  1321 GGCGTGCCTCTGGTCTATGAGGCTTTCAACTGGCAGCACGGAGTATTCATAGGTGCAACG
  1381 ATGAGATCAGAAGCAACAGCAGCTGCAGAGCATAAATGCAAGATCATCATGCACGATCCT
  1441 TTTGCCATGCGACCCTTCTTTGGTTACAACTTTGGCCAGTACCTCTCCCACTGGCTCAGC
  1501 ATGGCCCATCGGCCTGGGGCAAAACTGCCAAAGATCTTCCATGTCAATTGGTTCCGAAAG
  1561 GATAAGCAAGGGAGATTCCTATGGCCAGGATACGGTGAGAATTGCCGCGTGCTGGAATGG
  1621 ATGTTCAACCGAATCCAAGGAGAGGATTGTGCACAACCCACAGCCATTGGCTACATTCCC
  1681 AGTGACACAGGCGTGAACTTGAAGGGCCTGGAAGGTGTCGACATGCAAGAACTGTGTGAT
  1741 GTTTCCAAGGATTTCTGGGAAAAGGAGGTGGAAGAAATCAAGAAATACTTTGAAGAACAA
  1801 GTGAATGCCGACCTCCCCTATGAGATGGAAAGAGAGCTTCTTGCACTGGAGCAGAAAATA
  1861 AAGCAGTTATAA

Predicted Protein Product
MPSQQQKPRNIPSKVVQGDLKCLAPDVRDFIESNAKLCQPEAIHICDGSENENKKILELM
EEQGMIKKLGKYENCWLACTDPRDVARIESKTVIVTQERRDTIPVPRSGVSQLGRWMSEE
DFEKAFSVRFPGCMAAGRTMYVIPFSMGPIGSPLSKFGIELTDSPYVVASMRIMTRMGTS
VLEALGNGEFVKCLHSVGCPLPLKRALVCNWPCNPDLTLIAHIPDHREIISFGSGYGGNS
LLGKKCFALRIASRIAKEEGWLAEHMLILGITNPEGKKKYFAAAFPSACGKTNLAMMKPT
LPGWKIECVGDDIAWMKFDDQGNLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTN
VGLTSDGDVYWEGIDKELDPGVTITSWKNKEWTAKNEEPCAHPNSRFCTPASQCPIIDPA
WEAPEGVPIEGIIFGGRRPEGVPLVYEAFNWQHGVFIGATMRSEATAAAEHKCKIIMHDP
FAMRPFFGYNFGQYLSHWLSMAHRPGAKLPKIFHVNWFRKDKQGRFLWPGYGENCRVLEW
MFNRIQGEDCAQPTAIGYIPSDTGVNLKGLEGVDMQELCDVSKDFWEKEVEEIKKYFEEQ
VNADLPYEMERELLALEQKIKQL
Protein Alignment to Mouse
sp|Q9Z2V4|PCKGC_MOUSE Phosphoenolpyruvate carboxykinase, cytosolic [GTP]
            OS=Mus musculus GN=Pck1 PE=2 SV=1
      MGI:97501 Pck1 phosphoenolpyruvate carboxykinase 1, cytosolic (Chr 2)
        Length = 622

 Score = 2774 (981.6 bits), Expect = 1.7e-289, P = 1.7e-289
 Identities = 503/623 (80%), Positives = 558/623 (89%)

Query:     1 MPSQQQKPRNIPSKVVQGDLKCLAPDVRDFIESNAKLCQPEAIHICDGSENENKKILELM 60
             MP Q     +  +KV+QG L  L   VR F+E NA+LCQPE IHICDGSE E  ++L  M
Sbjct:     1 MPPQLHNGLDFSAKVIQGSLDSLPQAVRKFVEGNAQLCQPEYIHICDGSEEEYGQLLAHM 60

Query:    61 EEQGMIKKLGKYENCWLACTDPRDVARIESKTVIVTQERRDTIPVPRSGVSQLGRWMSEE 120
             +E+G+I+KL KY+NCWLA TDPRDVARIESKTVI+TQE+RDT+P+P++G+SQLGRWMSEE
Sbjct:    61 QEEGVIRKLKKYDNCWLALTDPRDVARIESKTVIITQEQRDTVPIPKTGLSQLGRWMSEE 120

Query:   121 DFEKAFSVRFPGCMAAGRTMYVIPFSMGPIGSPLSKFGIELTDSPYVVASMRIMTRMGTS 180
             DFEKAF+ RFPGCM  GRTMYVIPFSMGP+GSPL+K GIELTDSPYVVASMRIMTRMG S
Sbjct:   121 DFEKAFNARFPGCMK-GRTMYVIPFSMGPLGSPLAKIGIELTDSPYVVASMRIMTRMGIS 179

Query:   181 VLEALGNGEFVKCLHSVGCPLPLKRALVCNWPCNPDLTLIAHIPDHREIISFGSGYGGNS 240
             VLEALG+GEF+KCLHSVGCPLPLK+ LV NW CNP+LTLIAH+PD REIISFGSGYGGNS
Sbjct:   180 VLEALGDGEFIKCLHSVGCPLPLKKPLVNNWACNPELTLIAHLPDRREIISFGSGYGGNS 239

Query:   241 LLGKKCFALRIASRIAKEEGWLAEHMLILGITNPEGKKKYFAAAFPSACGKTNLAMMKPT 300
             LLGKKCFALRIASR+AKEEGWLAEHMLILGITNPEGKKKY AAAFPSACGKTNLAMM P+
Sbjct:   240 LLGKKCFALRIASRLAKEEGWLAEHMLILGITNPEGKKKYLAAAFPSACGKTNLAMMNPS 299

Query:   301 LPGWKIECVGDDIAWMKFDDQGNLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTN 360
             LPGWK+ECVGDDIAWMKFD QGNLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTN
Sbjct:   300 LPGWKVECVGDDIAWMKFDAQGNLRAINPENGFFGVAPGTSVKTNPNAIKTIQKNTIFTN 359

Query:   361 VGLTSDGDVYWEGIDKELDPGVTITSWKNKEWTAKNEEPCAHPNSRFCTPASQCPIIDPA 420
             V  TSDG VYWEGID+ L PGVTITSWKNKEW  ++ EPCAHPNSRFCTPASQCPIIDPA
Sbjct:   360 VAETSDGGVYWEGIDEPLAPGVTITSWKNKEWRPQDAEPCAHPNSRFCTPASQCPIIDPA 419

Query:   421 WEAPEGVPIEGIIFGGRRPEGVPLVYEAFNWQHGVFIGATMRSEATAAAEHKCKIIMHDP 480
             WE+PEGVPIEGIIFGGRRPEGVPLVYEA +WQHGVF+GA MRSEATAAAEHK KIIMHDP
Sbjct:   420 WESPEGVPIEGIIFGGRRPEGVPLVYEALSWQHGVFVGAAMRSEATAAAEHKGKIIMHDP 479

Query:   481 FAMRPFFGYNFGQYLSHWLSMAHRPGAKLPKIFHVNWFRKDKQGRFLWPGYGENCRVLEW 540
             FAMRPFFGYNFG+YL+HWLSMAHRP AKLPKIFHVNWFRKDK G+FLWPG+GEN RVLEW
Sbjct:   480 FAMRPFFGYNFGKYLAHWLSMAHRPAAKLPKIFHVNWFRKDKDGKFLWPGFGENSRVLEW 539

Query:   541 MFNRIQGEDCAQPTAIGYIPSDTGVNLKGLEGVDMQELCDVSKDFWEKEVEEIKKYFEEQ 600
             MF RI+GED A+ T IGYIP +  +NLKGL GV+++EL  +SK+FWEKEVEEI +Y E+Q
Sbjct:   540 MFGRIEGEDSAKLTPIGYIPKENALNLKGLGGVNVEELFGISKEFWEKEVEEIDRYLEDQ 599

Query:   601 VNADLPYEMERELLALEQKIKQL 623
             VN DLPYE+EREL AL+Q+I Q+
Sbjct:   600 VNTDLPYEIERELRALKQRISQM 622