ENSG00000124253
Homo sapiens response PCK1 cellular phosphoenolpyruvate carboxykinase binding activity gtp-utilising process ion metabolic gluconeogenesis acid stimulus n-terminal c-terminal glucose lipid insulin regulation interleukin- nucleotide gtp atrophy hepatic conserved site oxaloacetate internal protein amino
Features Gene ID: ENSG00000124253 Biological name :PCK1 Synonyms : P35558 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 20 Strand: 1 Band: q13.31 Gene start: 57561080 Gene end: 57568112 Corresponding Affymetrix probe sets: 208383_s_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000003198145105
See in Manteia .
614168 NM_002591 XM_011528839 NP_002582 P35558 ENSG00000124253 Related genetic diseases (OMIM): 261680 - ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl ) PCK2 / Q16822 / phosphoenolpyruvate carboxykinase 2, mitochondrial ENSG00000100889 70
Protein motifs (from Interpro ) IPR008209 Phosphoenolpyruvate carboxykinase, GTP-utilising IPR008210 Phosphoenolpyruvate carboxykinase, N-terminal IPR013035 Phosphoenolpyruvate carboxykinase, C-terminal IPR018091 Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site IPR035077 Phosphoenolpyruvate carboxykinase, GTP-utilising, C-terminal IPR035078 Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal
Gene Ontology (GO ) primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary metabolic process small molecule metabolic process organic substance metabolic process biosynthetic process cellular metabolic process nitrogen compound metabolic process aging response to activity response to external stimulus response to chemical response to biotic stimulus response to endogenous stimulus cellular response to stimulus regulation of biological quality response to stress cell communication response to abiotic stimulus primary primary metabolic process small mosmall molecule metabolic process organic organic substance metabolic process biosynthbiosynthetic process cellularcellular metabolic process nitrogennitrogen compound metabolic process agingaging responseresponse to activity responseresponse to external stimulus responseresponse to chemical responseresponse to biotic stimulus responseresponse to endogenous stimulus cellularcellular response to stimulus regulatiregulation of biological quality responseresponse to stress cell comcell communication responseresponse to abiotic stimulus organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compound binding heterocyclic compound binding small molecule binding ion binding lyase activity carbohydrate derivative binding organic cyclic compoundorganic cyclic compound binding heterocyclic compound bheterocyclic compound binding small molecule bindingsmall molecule binding ion bindingion binding lyase activitylyase activity carbohydrate derivativecarbohydrate derivative binding cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cell organelle extracellular region cellcell organelleorganelle extracellular regionextracellular region
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recessive inheritance Abnormality of the eyes Genitourinary abnormality Integument abnormality Respiratory abnormality Neurological abnormality Abnormality of the digestive system Metabolism abnormality Age of onset Autosomal recesAutosomal recessive inheritance Abnormality of Abnormality of the eyes Genitourinary aGenitourinary abnormality Integument abnoIntegument abnormality Respiratory abnRespiratory abnormality Neurological abNeurological abnormality Abnormality of Abnormality of the digestive system Metabolism abnoMetabolism abnormality Age of onsetAge of onset HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0000648 Optic atrophy
Show HP:0000799 Fatty kidneys
Show HP:0000961 Cyanosis
Show HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
Show HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
Show HP:0001397 Hepatic steatosis
Show HP:0001399 Hepatic failure
Show HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
Show HP:0002059 Cerebral atrophy
Show HP:0002104 Apnea "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators]
Show HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
Show HP:0003593 Early onset
Show HP:0005959 Impaired gluconeogenesis
Show
Interacting proteins (from Reactome )No match
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