Version 5.4
| Bos taurus Gene: TIMM8A | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Gene | IDBG-633444.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | TIMM8A | ||||||||
| Gene Name | Mitochondrial import inner membrane translocase subunit Tim8 A | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000022292 | ||||||||
| Encoded Proteins |
Mitochondrial import inner membrane translocase subunit Tim8 A
|
||||||||
| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000126953:
This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] |
||||||||
| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome X:55167867-55170570 | ||||||||
| Strand | Reverse strand | ||||||||
| Band | |||||||||
| Transcripts |
|
||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Orthologs | |||||||||
|
Species
Homo sapiens
Mus musculus
|
Gene ID
Gene Order
|
||||||||
| Pathways | |||||||||
| NETPATH | |||||||||
| REACTOME |
Mitochondrial protein import pathway
Metabolism of proteins pathway
|
||||||||
| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Mitochondrial protein import pathway
Metabolism of proteins pathway
Metabolism of proteins pathway
Mitochondrial protein import pathway
|
||||||||
| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Bt.49350 Bt.71696 | ||||||||
| RefSeq | NM_001034480 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | |||||||||
| GenPept | |||||||||
| RNA Seq Atlas | |||||||||