ATP5MK (ATP synthase membrane subunit k)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84833
Gene name Gene Name - the full gene name approved by the HGNC.
ATP synthase membrane subunit k
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATP5MK
Synonyms (NCBI Gene) Gene synonyms aliases
AGP, ATP5MD, DAPIT, HCVFTP2, MC5DN6, USMG5, bA792D24.4
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.33
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs146599698 C>G,T Pathogenic Splice donor variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005739 Component Mitochondrion IMP 29917077
GO:0005743 Component Mitochondrial inner membrane NAS 26297831
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615204 30889 ENSG00000173915
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q96IX5
Protein name ATP synthase F(0) complex subunit k, mitochondrial (ATP synthase membrane subunit DAPIT, mitochondrial) (Diabetes-associated protein in insulin-sensitive tissues) (HCV F-transactivated protein 2) (Up-regulated during skeletal muscle growth protein 5)
Protein function Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the resp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14960 ATP_synth_reg 1 → 51 ATP synthase regulation Family
Sequence
Sequence length 58
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 rs146599698 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Leigh Syndrome Leigh syndrome N/A N/A GenCC