ENSG00000124172
Homo sapiens | |
Features
| Gene ID: | ENSG00000124172 | | | | | Biological name : | ATP5F1E | | | | | Synonyms : | ATP5F1E / ATP synthase F1 subunit epsilon / P56381 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 20 | | Strand: | -1 | | Band: | q13.32 | | Gene start: | 59025467 | | Gene end: | 59032382 | | | | | Corresponding Affymetrix probe sets: | 217801_at (Human Genome U133 Plus 2.0 Array) 230535_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000379019
Ensembl peptide - ENSP00000379023
Ensembl peptide - ENSP00000243997
NCBI entrez gene - 514
See in Manteia.
OMIM - 606153
RefSeq - NM_006886
RefSeq Peptide - NP_008817
swissprot - P56381
Ensembl - ENSG00000124172
| | | | | Related genetic diseases (OMIM): | 614053 - ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 |
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)
No match
Protein motifs (from Interpro)
| IPR006721 | ATP synthase, F1 complex, epsilon subunit, mitochondrial | | IPR036742 | ATP synthase, F1 complex, epsilon subunit superfamily, mitochondrial |
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:0001249 | Mental retardation | |
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| | HP:0001639 | Hypertrophic cardiomyopathy | |
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| | HP:0003128 | Lactic acidemia | "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) of the blood." [HPO:probinson] |
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| | HP:0003535 | 3-Methylglutaconic aciduria | |
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| | HP:0009830 | Peripheral neuropathy | "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] |
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| | HP:0011925 | Decreased activity of mitochondrial ATP synthase complex | "A reduction in the activity of the ` mitochondrial proton-transporting ATP synthase complex` (GO:0005753), which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain." [HPO:probinson] |
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Interacting proteins (from Reactome)
No match
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