ENSG00000152234
Homo sapiens | |
Features
| Gene ID: | ENSG00000152234 | | | | | Biological name : | ATP5F1A | | | | | Synonyms : | ATP5F1A / ATP synthase F1 subunit alpha / P25705 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 18 | | Strand: | -1 | | Band: | q21.1 | | Gene start: | 46080248 | | Gene end: | 46104334 | | | | | Corresponding Affymetrix probe sets: | 1569891_at (Human Genome U133 Plus 2.0 Array) 213738_s_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000468458
Ensembl peptide - ENSP00000467983
Ensembl peptide - ENSP00000468618
Ensembl peptide - ENSP00000282050
Ensembl peptide - ENSP00000381736
Ensembl peptide - ENSP00000465259
Ensembl peptide - ENSP00000465477
Ensembl peptide - ENSP00000465497
Ensembl peptide - ENSP00000465805
Ensembl peptide - ENSP00000466275
Ensembl peptide - ENSP00000466309
Ensembl peptide - ENSP00000466975
Ensembl peptide - ENSP00000467037
Ensembl peptide - ENSP00000467830
NCBI entrez gene - 498
See in Manteia.
OMIM - 164360
RefSeq - XM_017025789
RefSeq - NM_001001935
RefSeq - NM_001001937
RefSeq - NM_001257334
RefSeq - NM_001257335
RefSeq - NM_004046
RefSeq Peptide - NP_004037
RefSeq Peptide - NP_001244264
RefSeq Peptide - NP_001001935
RefSeq Peptide - NP_001001937
RefSeq Peptide - NP_001244263
swissprot - V9HW26
swissprot - A0A0A0MTS3
swissprot - K7EJP1
swissprot - K7EK77
swissprot - K7EKV9
swissprot - K7EM08
swissprot - K7EQH4
swissprot - K7ENJ4
swissprot - K7EQU6
swissprot - K7ERX7
swissprot - K7ESA0
swissprot - P25705
Ensembl - ENSG00000152234
| | | | | Related genetic diseases (OMIM): | 615228 - ?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 | | | 616045 - ?Combined oxidative phosphorylation deficiency 22, 616045 |
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)
| IPR000194 | ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain | | IPR000793 | ATP synthase, alpha subunit, C-terminal | | IPR004100 | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain | | IPR005294 | ATP synthase, F1 complex, alpha subunit | | IPR020003 | ATPase, alpha/beta subunit, nucleotide-binding domain, active site | | IPR023366 | ATP synthase subunit alpha, N-terminal domain-like superfamily | | IPR027417 | P-loop containing nucleoside triphosphate hydrolase | | IPR033732 | ATP synthase, F1 complex, alpha subunit nucleotide-binding domain | | IPR036121 | ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily |
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:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
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| | HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| | HP:0000737 | Irritability | |
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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:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| | HP:0001298 | Encephalopathy | |
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| | HP:0001321 | Cerebellar hypoplasia | |
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| | HP:0001508 | Failure to thrive | |
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| | HP:0001511 | Intrauterine growth retardation | |
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| | HP:0001635 | Congestive heart failure | "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] |
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| | HP:0002089 | Pulmonary hypoplasia | |
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| | HP:0002092 | Pulmonary hypertension | |
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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:0003348 | Hyperalaninemia | |
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| | HP:0003577 | Onset at birth | |
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| | HP:0025430 | High-pitched cry | "A type of crying in an abnormally high-pitched voice." [] |
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Interacting proteins (from Reactome)
No match
1 s.
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