Version 5.4
Homo sapiens Gene: TIMM8A
Summary
InnateDB Gene IDBG-79593.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TIMM8A
Gene Name translocase of inner mitochondrial membrane 8 homolog A (yeast)
Synonyms DDP; DDP1; DFN1; MTS; TIM8
Species Homo sapiens
Ensembl Gene ENSG00000126953
Encoded Proteins
IDBP-79595
translocase of inner mitochondrial membrane 8 homolog A (yeast)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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:101345661-101349196
Strand Reverse strand
Band q22.1
Transcripts
ENST00000372902 ENSP00000361993
ENST00000480575
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 10 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0046872 metal ion binding
Biological Process
GO:0006626 protein targeting to mitochondrion
GO:0007399 nervous system development
GO:0044267 cellular protein metabolic process
GO:0072321 chaperone-mediated protein transport
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005758 mitochondrial intermembrane space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000048007
View Gene Order
ENSBTAG00000022292
Not yet available
Pathways
NETPATH
REACTOME
REACT_118595
Mitochondrial protein import pathway
REACT_17015
Metabolism of proteins pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.447877 Hs.600777 Hs.615537
RefSeq NM_004085
HUGO
OMIM
CCDS CCDS14481
HPRD 02287
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca