HuLPr47301

Uniprot ID

TMM70_HUMAN

Uniprot Acc

Q9BUB7;Q9NWY5;

Protein name

Transmembrane protein 70, mitochondrial

Comment

FUNCTION:Involved in biogenesis of mitochondrial ATP synthase.||SUBCELLULAR LOCATION:Mitochondrion inner membrane; Multi-pass membrane protein.||ALTERNATIVE PRODUCTS:Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BUB7-1; Sequence=Displayed; Name=2; IsoId=Q9BUB7-2; Sequence=VSP 020759; Note=No experimental confirmation available;||DISEASE:Defects in TMEM70 are a cause of mitochondrial encephalocardiomyopathy neonatal due to ATP synthase deficiency (MT-ATPSD) [MIM:604273]; also known as ATPase deficiency. A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid.||SIMILARITY:Belongs to the TMEM70 family.

Subcellular localization

Mitochondrion inner membrane;Multi-pass membrane protein.

Gene name

transmembrane protein 70

Protein sequence

MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRAS SSSGPSGPVAGWSTGPSGAARLLRRPGRAQIPVYWEGYV RFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIG LTFLPYIFTQNNAISESVPLPIQIIFYGIMGSFTVITPV LLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFH QNDVKIPDAKHVFTTFYAKTKSLLVNPVLFPNREDYIHL MGYDKEEFILYMEETSEEKRHKDDK

Database cross reference

RefSeq Protein accession:NP_001035703
RefSeq Protein gi:95007020

HLPP validation

Yes/No

Yes

Project name

Chinese Liver;Human Liver Organelles;French Liver;

GO:0032592;C:integral to mitochondrial membrane;IDA:UniProtKB. GO:0005743;C:mitochondrial inner membrane;IEA:UniProtKB-SubCell.

GO-P

GO:0033615;P:mitochondrial proton-transporting ATP synthase complex assembly;IMP:UniProtKB.