TMEM70 - transmembrane protein 70 Gene
Also Known as MC5DN2
Species: Homo sapiens
About TMEM70
This gene has 7 transcripts (splice variants), 203 orthologues and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 9.0), testis (RPKM 8.5) and 25 other tissues.
Summary
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP Synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP Synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
TMEM70 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001040613.3 | NP_001035703.1 | transmembrane protein 70, mitochondrial isoform b |
| NM_017866.6 | NP_060336.3 | transmembrane protein 70, mitochondrial isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables mitochondrial proton-transporting ATP synthase complex binding |
IDA
IDA: Inferred from direct assay
|
32275929 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
31652072 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mitochondrial proton-transporting ATP synthase complex assembly |
IMP
IMP: Inferred from mutant phenotype
|
18953340 | GOA |
| involved in protein complex oligomerization |
IDA
IDA: Inferred from direct assay
|
24576557 | GOA |
| involved in protein homooligomerization |
IDA
IDA: Inferred from direct assay
|
33359711 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial crista |
IDA
IDA: Inferred from direct assay
|
33359711 | GOA |
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
24576557 | GOA |
| located in mitochondrial membrane |
IDA
IDA: Inferred from direct assay
|
18953340 | GOA |
TMEM70 Protein Structure
TMEM70: Assembly, mitochondrial proton-transport ATP synth complex (106 - 240)
- 0
- 100
- 200
- 260 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
transmembrane protein 70, mitochondrial |
|
TMEM70 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TMEM70 | Q9BUB7 | LPAR3 | Homo sapiens | Q9UBY5 | 32296183 | |
|
Intra
|
TMEM70 | Q9BUB7 | RAB2A | Homo sapiens | P61019 | 32296183 | |
|
Intra
|
TMEM70 | Q9BUB7 | RAB2A | Homo sapiens | P61019 | 32296183 |
TMEM70 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810072 | TMEM70 Antibody (YA9416) | WB, ICC/IF, IF-Tissue, IP, ELISA | human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex V Deficiency, Nuclear Type 2 |
|
|
| Isolated Atp Synthase Deficiency |
|
|
| Tmem70 Defect |
|
|
| 3-Methylglutaconic Aciduria, Type Iv |
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
|
| Mitochondrial Complex V Deficiency, Nuclear Type 5 |
|
|
| 3-Methylglutaconic Aciduria, Type V |
|
|
| 3-Methylglutaconic Aciduria, Type I |
|
|
| 3-Methylglutaconic Aciduria |
|
|
| Mitochondrial Dna Depletion Syndrome 5 |
|
|
| Mitochondrial Dna Depletion Syndrome 4b |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Sengers Syndrome |
|
|
| Nephrotic Syndrome, Type 2 |
|
|
| Barth Syndrome |
|
|
| Encephalopathy, Ethylmalonic |
|
|
| Organic Acidemia |
|
|
| 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia |
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
|
| Kearns-Sayre Syndrome |
|
|
| Fumarase Deficiency |
|
|
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
|
| Lactic Acidosis |
|
|
| Left Ventricular Noncompaction |
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Leigh Syndrome |
|
|
| Mitochondrial Myopathy |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
| Hypertrophic Cardiomyopathy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | TMEM70 | VGNC | VGNC:54122 |
| Felis catus | TMEM70 | VGNC | VGNC:66361 |
| Rattus norvegicus | TMEM70 | RGD | RGD:1566224 |
| Bos taurus | TMEM70 | VGNC | VGNC:36108 |
| Mus musculus | TMEM70 | MGD | MGI:1915068 |
| Macaca mulatta | TMEM70 | VGNC | VGNC:79570 |
| Others | TMEM70 | NCBI |