ENSG00000124253
Homo sapiens | |
Features
| Gene ID: | ENSG00000124253 | | | | | Biological name : | PCK1 | | | | | Synonyms : | P35558 / PCK1 / phosphoenolpyruvate carboxykinase 1 | | | | | 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 - ENSP00000319814
NCBI entrez gene - 5105
See in Manteia.
OMIM - 614168
RefSeq - NM_002591
RefSeq - XM_011528839
RefSeq Peptide - NP_002582
swissprot - P35558
Ensembl - 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)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| 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] |
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| | HP:0000648 | Optic atrophy | |
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| | HP:0000799 | Fatty kidneys | |
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| | HP:0000961 | Cyanosis | |
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| | 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] |
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| | 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] |
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| | HP:0001397 | Hepatic steatosis | |
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| | HP:0001399 | Hepatic failure | |
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| | HP:0001943 | Hypoglycemia | "A lower than normal level of blood glucose." [HPO:curators] |
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| | HP:0002059 | Cerebral atrophy | |
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| | 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] |
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| | 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] |
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| | HP:0003593 | Early onset | |
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| | HP:0005959 | Impaired gluconeogenesis | |
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Interacting proteins (from Reactome)
No match
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