ATP5F1A - ATP synthase F1 subunit alpha Gene

Homo sapiens

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

Gene ID: 498 | Gene type: protein coding

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

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

Recombinant ATP5F1A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72095	ATP5F1A Protein, Human (His)	P25705 (Q44-A553)	≥95%
HY-P72096	ATP5F1A Protein, Human (His-SUMO)	P25705 (Q44-A553)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01202	ATP5F1A Human Pre-designed siRNA Set A		/	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

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