ATP5A1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ATP5A1
Gene name ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
Chromosome 18
Chromosomal band q21
Imprinted Unknown
Genomic reference NC_000018.9
Transcript reference NM_001001937.1, NM_004046.4, NM_004046.5
Associated with diseases 615228, 616045
Citation reference(s) -
Curators (0) -
Total number of public variants reported 3
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 15, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 823
Entrez Gene 498
PubMed articles ATP5A1
OMIM - Gene 164360
OMIM - Diseases 615228 (Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3))
616045 (?Combined oxidative phosphorylation deficiency 22, 616045 (3))
GeneCards ATP5A1
GeneTests ATP5A1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001571 18 transcript variant 1 NM_001001937.1 NP_001001937.1 3
00001572 18 transcript variant 2 NM_004046.4 NP_004037.1 3
00003340 18 transcript variant 2 NM_004046.5 NP_004037.1 3

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Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium