ATP5IF1 (ATP synthase inhibitory factor subunit 1)

Gene

• Entrez ID: 93974
• Gene name: ATP synthase inhibitory factor subunit 1
• Gene symbol: ATP5IF1
• Synonyms (NCBI Gene): ATPI, ATPIF1, ATPIP, IP
• Chromosome: 1
• Chromosome location: 1p35.3
• Summary: This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	TAS	15528193
GO:0001937	Process	Negative regulation of endothelial cell proliferation	IDA	15528193
GO:0004857	Function	Enzyme inhibitor activity	TAS	10664857
GO:0005515	Function	Protein binding	IPI	28514442, 30021884, 32296183, 32807793, 32814053, 33961781
GO:0005516	Function	Calmodulin binding	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	12110673
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005739	Component	Mitochondrion	TAS	10664857
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	10664857
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0009986	Component	Cell surface	IDA	15528193
GO:0019899	Function	Enzyme binding	IPI	21106936
GO:0030218	Process	Erythrocyte differentiation	IBA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0042030	Function	ATPase inhibitor activity	IBA
GO:0042030	Function	ATPase inhibitor activity	IDA	12110673, 15528193
GO:0042030	Function	ATPase inhibitor activity	IEA
GO:0042030	Function	ATPase inhibitor activity	ISS
GO:0042030	Function	ATPase inhibitor activity	TAS	24005319
GO:0042802	Function	Identical protein binding	ISS
GO:0043532	Function	Angiostatin binding	IDA	15528193
GO:0051117	Function	ATPase binding	IBA
GO:0051117	Function	ATPase binding	IDA	15528193
GO:0051117	Function	ATPase binding	ISS
GO:0051346	Process	Negative regulation of hydrolase activity	IDA	15528193
GO:0051882	Process	Mitochondrial depolarization	IMP	24005319
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0140260	Function	Mitochondrial proton-transporting ATP synthase complex binding	IDA	12110673
GO:1901030	Process	Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA
GO:1903052	Process	Positive regulation of proteolysis involved in protein catabolic process	IMP	24005319
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IMP	24005319
GO:1903578	Process	Regulation of ATP metabolic process	IMP	24005319
GO:1905091	Process	Positive regulation of type 2 mitophagy	IMP	24005319
GO:1905707	Process	Negative regulation of mitochondrial ATP synthesis coupled proton transport	ISS

Other IDs

• MIM: 614981
• HGNC: 871
• e!Ensembl: ENSG00000130770

Protein

• UniProt ID: Q9UII2
• Protein name: ATPase inhibitor, mitochondrial (ATP synthase F1 subunit epsilon) (Inhibitor of F(1)F(o)-ATPase) (IF(1)) (IF1)
• Protein function: Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid
• PDB: 8H9E, 8H9L, 8H9S, 8H9U, 8KI3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04568	IATP	4 → 94	Mitochondrial ATPase inhibitor, IATP	Family

• Sequence:

  MAVTALAARTWLGVWGVRTMQARGFGSDQSENVDRGAGSIREAGGAFGKREQAEEERYFR
  AQSREQLAALKKHHEEEIVHHKKEIERLQKEIERHKQKIKMLKHDD

• Sequence length: 106

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult type dermatomyositis	Dermatomyositis	BEFREE	28183315		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	23135403		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22002548	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28183315	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	30937309		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	28183315		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	28183315	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28770317	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28770317	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	22408432	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	26876430	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex III Deficiency	Mitochondrial complex deficiency	Pubtator	24685140	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	24685140	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28770317	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	25605724	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian cysts	Pubtator	33235102	Associate	★☆☆☆☆ Found in Text Mining only