ATP5A1 (GeneID: 498) | Homo sapiens
Description: ATP synthase F1 subunit alpha [Source:HGNC Symbol;Acc:HGNC:823]
Synonyms: MC5DN4, COXPD22, ATP5A, OMR, hATP1, ATPM, MOM2, EL-S-123m, ATP5AL2, ORM
Other ID(s): HGNC:823, ENSG00000152234
Protein Accession Numbers: ENST00000398752, ENST00000590665, NP_001244264, ENST00000590156, NP_001001935, ENST00000586592, ENST00000592364, ENST00000282050.2, ENST00000590406, NP_001244263, ENST00000589869, ENST00000593152, ENST00000585650, ENST00000591981, NP_004037, ENST00000282050, ENST00000590324, NP_001001937, ENST00000589252, ENST00000592989
Statistics: ClinVar(43) gnomAD(323) COSMIC(152) PTM(67)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000282050 ENST00000398752 ENST00000585650 ENST00000586592 ENST00000589252 ENST00000589869 ENST00000590156 ENST00000590324 ENST00000590406 ENST00000590665 ENST00000591981 ENST00000592364 ENST00000592989 ENST00000593152 You are here now! NP_001001935 You are here now! NP_001001937 NP_001244263 NP_001244264 You are here now! NP_004037


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00006 ATP-synt_ab ATP synthase alpha/beta family, nucleotide-binding domain 192-415 CL0023 P-loop_NTPase Homo sapiens
PF00306 ATP-synt_ab_C ATP synthase alpha/beta chain, C terminal domain 422-547 Homo sapiens
PF02874 ATP-synt_ab_N ATP synthase alpha/beta family, beta-barrel domain 67-135 CL0275 HAS-barrel Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Complex V deficiency N/A 0.639 0.448
Endotoxemia Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.639 0.448
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.639 0.448
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.639 0.448
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 N/A 0.639 0.448
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 N/A 0.639 0.448
NO RESULT FOUND
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