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
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of proteins pathway
Mitochondrial protein import pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O60220
TrEMBL
UniProt Splice Variant
Entrez Gene 1678
UniGene Hs.447877 Hs.600777 Hs.615537
RefSeq NM_004085
HUGO HGNC:11817
OMIM 300356
CCDS CCDS14481
HPRD
IMGT
EMBL AK312117 AL035422 BC006994 BC015093 BC070284 CH471115 U66035
GenPept AAC15946 AAH06994 AAH15093 AAH70284 BAG35053 CAB55875 EAX02854
RNA Seq Atlas 1678