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The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
TOMM40 (Translocase Of Outer Mitochondrial Membrane 40) is a Protein Coding gene. Diseases associated with TOMM40 include Early-Onset, Autosomal Dominant Alzheimer Disease and Barth Syndrome. Among its related pathways are Metabolism of proteins and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include porin activity and protein transmembrane transporter activity. An important paralog of this gene is TOMM40L.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 27554484 |
GO:0008320 | protein transmembrane transporter activity | TAS | 15644312 |
GO:0015288 | porin activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | NOT mitochondrion | IDA,IMP | 11745481 |
GO:0005741 | mitochondrial outer membrane | TAS | -- |
GO:0005742 | mitochondrial outer membrane translocase complex | IDA | 12198123 |
GO:0005743 | mitochondrial inner membrane | IDA | 24746669 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Amyotrophic lateral sclerosis (ALS) | ||
2 | Mitophagy |
1.00
|
|
3 | Metabolism of proteins | ||
4 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006626 | protein targeting to mitochondrion | ISS | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0015031 | protein transport | IEA | -- |
GO:0016236 | macroautophagy | TAS | -- |
GO:0030150 | protein import into mitochondrial matrix | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||
SP3: | |||||||||||||||||||||||
SP4: | |||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TOMM40 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TOMM40 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TOMM40 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tomm40 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tomm40 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TOMM40 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TOMM40 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TOMM40 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tomm40 30 |
|
||
MGC75995 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | tomm40-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tomm40l 31 |
|
OneToMany | |
tomm40 30 31 |
|
OneToMany | |||
wufb68h07 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Tom40 30 31 32 |
|
ManyToMany | |
CG8330 32 |
|
|
|||
tomboy40 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007871 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | tomm-40 30 31 |
|
OneToMany | |
C18E9.6 32 |
|
|
|||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL183C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TOM40 30 31 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F06292g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G50400 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU01179 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2065 31 |
|
OneToMany | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | tom40 30 |
|
Disorder | Aliases | PubMed IDs |
---|---|---|
early-onset, autosomal dominant alzheimer disease |
|
|
barth syndrome |
|
|
wolfram syndrome 2 |
|
|
aphasia |
|
|
frontotemporal dementia |
|
|