InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TIMM8A

Summary

InnateDB Protein

IDBP-79595.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TIMM8A

Protein Name

translocase of inner mitochondrial membrane 8 homolog A (yeast)

Synonyms

DDP; DDP1; DFN1; MTS; TIM8;

Species

Homo sapiens

Ensembl Protein

ENSP00000361993

InnateDB Gene

IDBG-79593 (TIMM8A)

Protein Structure

UniProt Annotation

Function

Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8-TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDa complex mediates the import of much more proteins. Probably necessary for normal neurologic development. {ECO:0000269PubMed:11489896, ECO:0000269PubMed:15254020}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000269PubMed:11489896}; Peripheral membrane protein {ECO:0000269PubMed:11489896}; Intermembrane side {ECO:0000269PubMed:11489896}.

Disease Associations

Mohr-Tranebjaerg syndrome (MTS) [MIM:304700]: Recessive neurodegenerative syndrome characterized by postlingual progressive sensorineural deafness as the first presenting symptom in early childhood, followed by progressive dystonia, spasticity, dysphagia, mental deterioration, paranoia and cortical blindness. {ECO:0000269PubMed:10878669, ECO:0000269PubMed:11875042, ECO:0000269PubMed:11956200}. Note=The disease is caused by mutations affecting the gene represented in this entry.Jensen syndrome (JENSS) [MIM:311150]: X-linked disease characterized by deafness, blindness and muscle weakness. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in fetal and adult brain, followed by fetal lung, liver and kidney. Also expressed in heart, placenta, lung, liver, kidney, pancreas, skeletal muscle and heart.

Comments

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