Q9P0U1 · TOM7_HUMAN
- ProteinMitochondrial import receptor subunit TOM7 homolog
- GeneTOMM7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for assembly and stability of the TOM complex. Positive regulator of PRKN translocation to damaged mitochondria. Acts probably by stabilizing PINK1 on the outer membrane of depolarized mitochondria.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial outer membrane | |
Cellular Component | mitochondrial outer membrane translocase complex | |
Cellular Component | mitochondrion | |
Cellular Component | TOM complex | |
Molecular Function | protein transmembrane transporter activity | |
Biological Process | positive regulation of mitophagy in response to mitochondrial depolarization | |
Biological Process | positive regulation of protein targeting to mitochondrion | |
Biological Process | protein import into mitochondrial matrix | |
Biological Process | protein insertion into mitochondrial outer membrane | |
Biological Process | protein targeting to mitochondrion | |
Biological Process | regulation of protein stability |
Keywords
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameMitochondrial import receptor subunit TOM7 homolog
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9P0U1
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion outer membrane ; Single-pass membrane protein
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 1-20 | Cytoplasmic | ||||
Sequence: MVKLSKEAKQRLQQLFKGSQ | ||||||
Transmembrane | 21-36 | Helical | ||||
Sequence: FAIRWGFIPLVIYLGF | ||||||
Topological domain | 37-55 | Mitochondrial intermembrane | ||||
Sequence: KRGADPGMPEPTVLSLLWG |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Garg-Mishra progeroid syndrome (GMPGS)
- Note
- DescriptionAn autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy.
- See alsoMIM:620601
Natural variants in GMPGS
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_089166 | 25 | W>R | in GMPGS; likely pathogenic; the orthologous mutation in mice results in growth defects, lipoatrophy and lipid accumulation in the liver | |
VAR_089167 | 29 | P>L | in GMPGS; uncertain significance; severely reduced interaction with TOMM22 and TOMM40; does not affect mitochondrial localization |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_089166 | 25 | in GMPGS; likely pathogenic; the orthologous mutation in mice results in growth defects, lipoatrophy and lipid accumulation in the liver | |||
Sequence: W → R | ||||||
Natural variant | VAR_089167 | 29 | in GMPGS; uncertain significance; severely reduced interaction with TOMM22 and TOMM40; does not affect mitochondrial localization | |||
Sequence: P → L |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 71 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000046759 | 1-55 | Mitochondrial import receptor subunit TOM7 homolog | |||
Sequence: MVKLSKEAKQRLQQLFKGSQFAIRWGFIPLVIYLGFKRGADPGMPEPTVLSLLWG |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9P0U1 | TOMM20 Q15388 | 2 | EBI-1180558, EBI-711636 | |
BINARY | Q9P0U1 | TOMM22 Q9NS69 | 2 | EBI-1180558, EBI-1047508 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence
- Sequence statusComplete
- Length55
- Mass (Da)6,248
- Last updated2000-10-01 v1
- Checksum720E850940262ED1
Computationally mapped potential isoform sequences
There are 2 potential isoforms mapped to this entry
Features
Showing features for sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 45 | in Ref. 1; CAB38060 | ||||
Sequence: P → S |
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ011007 EMBL· GenBank· DDBJ | CAB38060.1 EMBL· GenBank· DDBJ | mRNA | ||
AF150733 EMBL· GenBank· DDBJ | AAF67473.1 EMBL· GenBank· DDBJ | mRNA | ||
BC001732 EMBL· GenBank· DDBJ | AAH01732.1 EMBL· GenBank· DDBJ | mRNA |