Property Summary

NCBI Gene PubMed Count 40
PubMed Score 154.42
PubTator Score 95.01

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (1)

Disease log2 FC p
acute myeloid leukemia -1.100 3.6e-02

 GO Function (1)

Gene RIF (12)

PMID Text
23418071 The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of Timm8a.
22190034 HIV-1 gp41 is identified to have a physical interaction with translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21984432 knockdown of the TIMM8A gene by RNA interference did not show an influence on the oxygen respiration rate and the mitochondrial membrane potentia
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18187620 Knockdown of translocase of inner mitochondrial membrane 8 homolog A (TIMM8A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells
17999202 mRNA expression demonstrate increased TIMM8A mRNA levels in cultured fibroblasts from a patient with Mohr-Tranebjaerg Syndrome.
17534980 A sporadic 42-year-old man with MTS presenting with postlingual deafness, adult-onset progressive dystonia with marked arm tremor, mild spasticity of the legs, and visual disturbance due to a novel mutation in the DDP1 gene.
16411215 Mutation in TIMM8a is associated with deafness-dystonia (Mohr-Tranebjaerg) syndrome
16332536 Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death.
15710860 Intronic mutations in the DDP1 gene can also cause X-linked dystonia-deafness syndrome.
12745081 Interaction of TIMM8a with the signal transduction adaptor molecule STAM1.

AA Sequence

MDSSSSSSAAGLGAVDPQLQHFIEVETQKQRFQQLVHQMTELCWEKCMDKPGPKLDSRAEACFVNCVERF      1 - 70
IDTSQFILNRLEQTQKSKPVFSESLSD                                                71 - 97
//

Text Mined References (44)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23418071 2013 The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21984432 2012 Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17999202 2007 Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
17534980 2007 Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
16411215 2006 A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome.
16387659 2006 Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller.
16332536 2005 Bax/Bak-dependent release of DDP/TIMM8a promotes Drp1-mediated mitochondrial fission and mitoptosis during programmed cell death.
15772651 2005 The DNA sequence of the human X chromosome.
15710860 2005 A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15254020 2004 The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14726512 2004 Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14509668 2004 Dystonia with and without deafness is caused by TIMM8A mutation.
12745081 2003 Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11956200 2002 The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.
11875042 2002 Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.
11803487 2001 Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.
11601506 2001 A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.
11489896 2001 Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria.
11405816 2001 A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.
11101512 2000 The role of the TIM8-13 complex in the import of Tim23 into mitochondria.
10878669 2000 A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.
10873677 2000 Cloning and expression of mouse deafness dystonia peptide 1 cDNA.
10611480 1999 The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.
10552927 1999 The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins.
10051608 1999 Human deafness dystonia syndrome is a mitochondrial disease.
10051550 1999 Mitochondria and dystonia: the movement disorder connection?
8841189 1996 A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.
7959728 1994 Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22.
7643352 1995 A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.