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This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
TSFM (Ts Translation Elongation Factor, Mitochondrial) is a Protein Coding gene. Diseases associated with TSFM include Combined Oxidative Phosphorylation Deficiency 3 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include translation elongation factor activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0003746 | translation elongation factor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25910212 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | TAS,IDA | -- |
GO:0005759 | mitochondrial matrix | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mitochondrial translation | ||
2 | Organelle biogenesis and maintenance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006414 | translational elongation | TAS,IBA | 21873635 |
GO:0032784 | regulation of DNA-templated transcription, elongation | TAS | 7615523 |
GO:0070125 | mitochondrial translational elongation | IBA | 21873635 |
GO:0070129 | regulation of mitochondrial translation | IDA | 27677415 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TSFM 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TSFM 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TSFM 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Tsfm 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Tsfm 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | TSFM 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | TSFM 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tsfm 30 |
|
||
Str.10593 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16462 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | tsfm 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009234 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6412 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | tsfm-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
668504 | Likely Benign: not provided | 57,792,980(+) | A/G | INTRON_VARIANT | |
676766 | Likely Benign: not provided | 57,783,014(+) | A/G | INTRON_VARIANT | |
678633 | Benign: not provided | 57,792,811(+) | C/T | INTRON_VARIANT | |
678634 | Benign: not provided | 57,792,812(+) | A/G | INTRON_VARIANT | |
678659 | Benign: not provided | 57,792,750(+) | G/A | INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
combined oxidative phosphorylation deficiency 3 |
|
|
combined oxidative phosphorylation deficiency |
|
|
nephrotic syndrome, type 21 |
|
|
animal phobia |
|
|
combined oxidative phosphorylation deficiency 4 |
|
|