ATP5MK (ATP synthase membrane subunit k)

Gene

• Entrez ID: 84833
• Gene name: ATP synthase membrane subunit k
• Gene symbol: ATP5MK
• Synonyms (NCBI Gene): AGP, ATP5MD, DAPIT, HCVFTP2, MC5DN6, USMG5, bA792D24.4
• Chromosome: 10
• Chromosome location: 10q24.33

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146599698	C>G,T	Pathogenic	Splice donor variant

Gene ontology (GO)

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
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0015986	Process	Proton motive force-driven ATP synthesis	NAS	26297831
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0045259	Component	Proton-transporting ATP synthase complex	IBA
GO:0045259	Component	Proton-transporting ATP synthase complex	IMP	29917077
GO:0045259	Component	Proton-transporting ATP synthase complex	ISS
GO:0045259	Component	Proton-transporting ATP synthase complex	NAS	26297831

Other IDs

• MIM: 615204
• HGNC: 30889
• e!Ensembl: ENSG00000173915

Protein

• 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:

  MAGPESDAQYQFTGIKKYFNSYTLTGRMNCVLATYGSIALIVLYFKLRSKKTPAVKAT

• Sequence length: 58

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	Pathogenic; Likely pathogenic	rs146599698, rs1339841048	RCV000856927 RCV001260444	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs146599698	RCV005906949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LEIGH SYNDROME	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL COMPLEX V DEFICIENCY, NUCLEAR TYPE 6	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	34278484	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	29760517		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25586835		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29234032		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29234032		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29234032		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29234032		★☆☆☆☆ Found in Text Mining only
Isolated ATP synthase deficiency	Isolated ATP Synthase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	29917077		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	29917077, 33096015	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	26220684		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34278484	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36551283	Associate	★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	27622933		★☆☆☆☆ Found in Text Mining only