Property Summary

NCBI Gene PubMed Count 40
Grant Count 68
R01 Count 53
Funding $8,964,620.16
PubMed Score 154.42
PubTator Score 95.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
acute myeloid leukemia -1.100 0.036

Synonym

Accession O60220 B2R5A6 Q6IRW6
Symbols DDP
MTS
DDP1
DFN1
TIM8

Gene

 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.
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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.
More...