PCK1 (phosphoenolpyruvate carboxykinase 1)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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5105 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Phosphoenolpyruvate carboxykinase 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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PCK1 |
SynonymsGene synonyms aliases
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PCKDC, PEPCK-C, PEPCK1, PEPCKC |
ChromosomeChromosome number
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20 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20q13.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expressio |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs147120329 |
C>T |
Conflicting-interpretations-of-pathogenicity |
5 prime UTR variant, missense variant, coding sequence variant |
rs148684857 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Missense variant, coding sequence variant |
rs201186470 |
G>A |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs373906233 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
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miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P35558 |
Protein name |
Phosphoenolpyruvate carboxykinase, cytosolic [GTP] (PEPCK-C) (EC 4.1.1.32) (Serine-protein kinase PCK1) (EC 2.7.11.-) |
Protein function |
Cytosolic phosphoenolpyruvate carboxykinase that catalyzes the reversible decarboxylation and phosphorylation of oxaloacetate (OAA) and acts as the rate-limiting enzyme in gluconeogenesis (PubMed:24863970, PubMed:26971250, PubMed:28216384, PubMe |
PDB |
1KHB
,
1KHE
,
1KHF
,
1KHG
,
1M51
,
1NHX
,
2GMV
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17297 |
PEPCK_N |
29 → 256 |
Phosphoenolpyruvate carboxykinase N-terminal domain |
Domain |
PF00821 |
PEPCK_GTP |
260 → 619 |
Phosphoenolpyruvate carboxykinase C-terminal P-loop domain |
Domain |
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Sequence |
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Sequence length |
622 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Developmental delay |
Global developmental delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Liver failure |
Liver Failure |
rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682 |
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Myocardial infarction |
Myocardial Failure |
rs12316150, rs41303970, rs909253, rs7291467, rs2234693 |
26670611 |
Obesity |
Obesity |
rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840 |
20882379 |
Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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Phosphoenolpyruvate carboxykinase deficiency |
Phosphoenolpyruvate carboxykinase deficiency |
rs202197769 |
24863970, 26971250, 28216384 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
18460190 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Celiac disease |
Celiac Disease |
rs2305764, rs35218876 |
30097691 |
Cerebral atrophy |
Cerebral atrophy |
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Congestive heart failure |
Congestive heart failure |
rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569 |
26670611 |
Fatty liver |
Fatty Liver, Steatohepatitis |
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Heart failure |
Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided |
rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 |
26670611 |
Hepatic encephalopathy |
Hepatic Encephalopathy |
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Hypoglycemia |
Hypoglycemia |
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Ketonuria |
Ketonuria |
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Liver carcinoma |
Liver carcinoma |
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28284560, 19363144 |
Renal steatosis |
Renal steatosis |
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