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HUMAN:TMM70

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) TMEM70
Protein Name(s) Transmembrane protein 70, mitochondrial
External Links
UniProt Q9BUB7
EMBL AK000540
AC022868
BC002748
CCDS CCDS47876.1
CCDS6215.1
RefSeq NP_001035703.1
NP_060336.3
UniGene Hs.106650
ProteinModelPortal Q9BUB7
BioGrid 120305
IntAct Q9BUB7
MINT MINT-1377851
STRING 9606.ENSP00000312599
PhosphoSite Q9BUB7
DMDM 74733203
MaxQB Q9BUB7
PaxDb Q9BUB7
PRIDE Q9BUB7
Ensembl ENST00000312184
ENST00000517439
GeneID 54968
KEGG hsa:54968
UCSC uc003yab.3
CTD 54968
GeneCards GC08P074888
HGNC HGNC:26050
HPA CAB034226
HPA023187
MIM 612418
614052
neXtProt NX_Q9BUB7
Orphanet 1194
PharmGKB PA142670783
eggNOG NOG238110
GeneTree ENSGT00390000018710
HOGENOM HOG000045718
HOVERGEN HBG073273
InParanoid Q9BUB7
KO K17966
OMA PYIFAQN
PhylomeDB Q9BUB7
TreeFam TF314656
GenomeRNAi 54968
NextBio 58196
PRO PR:Q9BUB7
Proteomes UP000005640
Bgee Q9BUB7
CleanEx HS_TMEM70
ExpressionAtlas Q9BUB7
Genevestigator Q9BUB7
GO GO:0032592
GO:0005743
GO:0033615
InterPro IPR009724
PANTHER PTHR13281
Pfam PF06979

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0033615

mitochondrial proton-transporting ATP synthase complex assembly

PMID:18953340[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0032592

integral component of mitochondrial membrane

PMID:18953340[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003674

molecular_function

GO_REF:0000015

ECO:0000307

no biological data found used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005743

mitochondrial inner membrane

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0999
UniProtKB-SubCell:SL-0168

C

Seeded From UniProt

complete

part_of

GO:0005739

mitochondrion

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0496

C

Seeded From UniProt

complete

part_of

GO:0016021

integral component of membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0812

C

Seeded From UniProt

complete

part_of

GO:0016020

membrane

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0472

C

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Cízková, A et al. (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat. Genet. 40 1288-90 PubMed GONUTS page