ATP5MK (ATP synthase membrane subunit k)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 84833
Gene name ATP synthase membrane subunit k
Gene symbol ATP5MK
Synonyms (NCBI Gene)
AGPATP5MDDAPITHCVFTP2MC5DN6USMG5bA792D24.4
Chromosome 10
Chromosome location 10q24.33
SNPs SNP information provided by dbSNP.
1
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615204 30889 ENSG00000173915
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 Pathogenic; Likely pathogenic rs146599698, rs1339841048 RCV000856927
RCV001260444
Sarcoma Pathogenic rs146599698 RCV005906949