ATP5F1A - ATP synthase F1 subunit alpha Gene

Also Known as OMR; ORM; ATPM; MOM2; ATP5A; hATP1; ATP5A1; MC5DN4; ATP5AL2; COXPD22; HEL-S-123m

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 498

About ATP5F1A

Cytogenetic location: 18q21.1 Genomic coordinates (GRCh38): 18:46,080,248-46,104,227 (from NCBI)

This gene has 20 transcripts (splice variants), 275 orthologues, 4 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 367.9), kidney (RPKM 254.5) and 25 other tissues.

Summary

This gene encodes a subunit of mitochondrial ATP Synthase. Mitochondrial ATP Synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during Oxidative Phosphorylation. ATP Synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP Synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the Other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

ATP5F1A Products (5)

mRNA	Protein	Name
NM_001001935.3	NP_001001935.1	ATP synthase subunit alpha, mitochondrial isoform c
NM_001001937.2	NP_001001937.1	ATP synthase subunit alpha, mitochondrial isoform a precursor
NM_001257334.2	NP_001244263.1	ATP synthase subunit alpha, mitochondrial isoform b precursor
NM_001257335.2	NP_001244264.1	ATP synthase subunit alpha, mitochondrial isoform c
NM_004046.6	NP_004037.1	ATP synthase subunit alpha, mitochondrial isoform a precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables MHC class I protein binding	IDA IDA: Inferred from direct assay	17643490	GOA
enables angiostatin binding	IPI IPI: Inferred from physical interaction	21106936	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10077593	GOA
contributes to proton-transporting ATP synthase activity, rotational mechanism	IDA IDA: Inferred from direct assay	12110673	GOA
enables proton-transporting ATP synthase activity, rotational mechanism	IMP IMP: Inferred from mutant phenotype	21106936	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in ATP biosynthetic process	IMP IMP: Inferred from mutant phenotype	21106936	GOA
involved in negative regulation of endothelial cell proliferation	IMP IMP: Inferred from mutant phenotype	10077593	GOA
involved in positive regulation of blood vessel endothelial cell migration	IGI IGI: Inferred from genetic interaction	21106936	GOA
involved in proton motive force-driven mitochondrial ATP synthesis	IDA IDA: Inferred from direct assay	12110673	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
part of COP9 signalosome	IDA IDA: Inferred from direct assay	18850735	GOA
located in membrane	IDA IDA: Inferred from direct assay	21106936	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	19016746	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10077593	GOA
part of proton-transporting ATP synthase complex	IDA IDA: Inferred from direct assay	12110673	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP5F1A Protein Structure

ATP-synt_ab_N

ATP-synt_ab

ATP-synt_ab_C

0
100
200
300
400
500
553 a.a.

Protein Preferred Names	Protein Names
ATP synthase subunit alpha, mitochondrial	ATP synthase alpha chain, mitochondrial

ATP5F1A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	ATP5F1A	P25705	ATP5PB	Homo sapiens	P24539	Anti Tag CoIP	27499296
Intra	ATP5F1A	P25705	ATPAF2	Homo sapiens	Q8N5M1	Anti Tag CoIP	27499296
Intra	ATP5F1A	P25705	ATPAF2	Homo sapiens	Q8N5M1	Y2H	11410595
Intra	ATP5F1A	P25705	ATP5PF	Homo sapiens	P18859	Anti Tag CoIP	27499296
Intra	ATP5F1A	P25705	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
Intra	ATP5F1A	P25705	YWHAZ	Homo sapiens	P63104	CoIP	15324660
Intra	ATP5F1A	P25705	BLOC1S1	Homo sapiens	P78537	Anti Tag CoIP	22309213
Intra	ATP5F1A	P25705	ATP5PO	Homo sapiens	P48047	Anti Tag CoIP	27499296
Intra	ATP5F1A	P25705	ATP5PO	Homo sapiens	P48047	Crosslink	30021884
Intra	ATP5F1A	P25705	ATP5F1B	Homo sapiens	P06576	Anti Tag CoIP	27499296
Intra	ATP5F1A	P25705	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	ATP5F1A	P25705	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	ATP5F1A	P25705	HTT	Homo sapiens	P42858	Validated Y2H	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATP5F1A Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P72095	ATP5F1A Protein, Human (His)	P25705-1 (Q44-A553)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P72096	ATP5F1A Protein, Human (His-SUMO)	P25705 (Q44-A553)	≥ 90%, as determined by reducing SDS-PAGE.

ATP5F1A Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P82561	ATP5A Antibody (YA2306)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P82561A	ATP5A Antibody (YA2306)(PBS only)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P84214	ATP5A Antibody (YA3911)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P84214A	ATP5A Antibody (YA3911)(PBS only)	WB, IHC-P, FC, ELISA	Human, Mouse, Rat, Monkey
HY-P86400	ATP5A Antibody (YA6092)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Combined Oxidative Phosphorylation Deficiency 22	COXPD22 Oxidative Phosphorylation Deficiency, Combined, Type 22
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Leigh Syndrome, French Canadian Type Mitochondrial Complex V Deficiency Nuclear Type 4 Cytochrome C Oxidase Deficiency, French Canadian Type Lsfc Cox Deficiency, French Canadian Type MC5DN4 MC4DN5 Cox Deficiency, Saguenay-Lac-Saint-Jean Type Leigh Syndrome, Saguenay-Lac-Saint-Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 French Canadian Leigh Disease Leigh Syndrome, French-Canadian Type Leigh Syndrome , French Canadian Type Mitochondrial Complex V Deficiency, Atp5a1 Type French Canadian Type Cox Deficiency French Canadian Type Cytochrome C Oxidase Deficiency French Canadian Type Leigh Syndrome Saguenay Lac Saint Jean Type Cox Deficiency Saguenay Lac Saint Jean Type Leigh Syndrome Cox Deficiency, Saguenay Lac Saint Jean Type Leigh Syndrome, Saguenay Lac Saint Jean Type Mitochondrial Complex V Deficiency, Nuclear Type 4 Mitochondrial Complex V Deficiency Atp5a1 Type Mitochondrial Complex V Deficiency Type 4 Mitochondrial Complex V Deficiency, Nuclear, Type 4
Isolated Atp Synthase Deficiency	Isolated Mitochondrial Respiratory Chain Complex V Deficiency
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Partial Arterial Retinal Occlusion	Partial Retinal Arterial Occlusion Retinal Partial Arterial Occlusion Partial Retinal Artery Occlusion
Osteopetrosis, Autosomal Recessive 6	OPTB6 Autosomal Recessive Osteopetrosis 6 Autosomal Recessive Osteopetrosis Intermediate Form Osteopetrosis, Autosomal Recessive, Intermediate Form Osteopetrosis Autosomal Recessive 6 Autosomal Recessive Osteopetrosis Type 6 Osteopetrosis Autosomal Recessive Intermediate Form Intermediate Osteopetrosis Autosomal Recessive Intermediate Osteopetrosis Osteopetrosis, Autosomal Recessive, Type 6
Mitochondrial Complex V Deficiency, Nuclear Type 5	Mitochondrial Complex V Deficiency MC5DN5 Mitochondrial Complex V Deficiency, Atp5f1d Type Mitochondrial Complex V Deficiency Mitochondrial Complex 5 Deficiency Nuclear Type 5 Complex 5 Mitochondrial Respiratory Chain Deficiency Atp Synthase Deficiency Mitochondrial Complex V Deficiency, Nuclear Type 5 Complex V Deficiency
Osteopetrosis, Autosomal Recessive 4	Autosomal Recessive Osteopetrosis 4 OPTB4 Infantile Malignant Osteopetrosis 2 Osteopetrosis, Infantile Malignant 2 Osteopetrosis, Autosomal Recessive, Type 4
Auditory System Cancer	Ear Neoplasms
Mitochondrial Complex V Deficiency, Nuclear Type 3	Mitochondrial Complex Iii Deficiency Nuclear Type 5 MC5DN3 Mitochondrial Complex Iii Deficiency, Nuclear Type 5 Mitochondrial Complex V Deficiency Nuclear Type 3 MC3DN5 Mitochondrial Complex V Deficiency, Atp5e Type Mitochondrial Complex Iii Deficiency, Nuclear 5 Mitochondrial Complex V Deficiency, Nuclear Type 3 Mitochondrial Complex V Deficiency Atp5e Type Mitochondrial Complex V Deficiency Type 3 Mitochondrial Complex V Deficiency, Nuclear, Type 3
Mitochondrial Complex I Deficiency, Nuclear Type 1	Mitochondrial Complex I Deficiency Nadh:Q(1) Oxidoreductase Deficiency MC1DN1 Nadh-Coenzyme Q Reductase Deficiency Isolated Mitochondrial Respiratory Chain Complex I Deficiency Isolated Nadh-Coenzyme Q Reductase Deficiency Isolated Nadh-Coq Reductase Deficiency Isolated Nadh-Ubiquinone Reductase Deficiency Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of Nuclear Type Mitochondrial Complex I Deficiency 1 Isolated Complex I Deficiency Complex 1 Mitochondrial Respiratory Chain Deficiency Nadh Coenzyme Q Reductase Deficiency Complex I Mitochondrial Respiratory Chain Deficiency Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I Nadh:Ubiquinone Oxidoreductase Deficiency Complex I, Mitochondrial Respiratory Chain, Deficiency Of
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS01202	ATP5F1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18205	Atp5f1a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24682	Atp5f1a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP5F1A	VGNC	VGNC:26299
Mus musculus	ATP5F1A	MGD	MGI:88115
Rattus norvegicus	ATP5F1A	RGD	RGD:619993
Felis catus	ATP5F1A	VGNC	VGNC:68643
Macaca mulatta	ATP5F1A	VGNC	VGNC:101434
Canis familiaris	ATP5F1A	VGNC	VGNC:53332
Others	ATP5F1A	NCBI