Property Summary

NCBI Gene PubMed Count 15
PubMed Score 9.50
PubTator Score 10.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.051 1.2e-02
Multiple myeloma 1.620 1.2e-03
ovarian cancer -1.500 5.2e-05

Gene RIF (6)

PMID Text
25899669 TTC19-deficient mitochondrial complex III deficiency displays substantial phenotypic variation. (Review)
25887401 This study showed that TTC19 deficient patients do show characteristic clinical and neuroimaging features, which may facilitate diagnosis of this yet rare disorder; normal MRC complex III activity does not exclude the diagnosis.
24397319 A TTC19 mutation in spinocerebellar ataxia is identified in an Asian population.
23532514 The mutation resulted in almost complete absence of TTC19 protein, defective assembly of CIII in muscle, and enhanced production of reactive oxygen species in cultured skin fibroblasts.
21278747 TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MFRLLSWSLGRGFLRAAGRRCRGCSARLLPGLAGGPGPEVQVPPSRVAPHGRGPGLLPLLAALAWFSRPA      1 - 70
AAEEEEQQGADGAAAEDGADEAEAEIIQLLKRAKLSIMKDEPEEAELILHDALRLAYQTDNKKAITYTYD     71 - 140
LMANLAFIRGQLENAEQLFKATMSYLLGGGMKQEDNAIIEISLKLASIYAAQNRQEFAVAGYEFCISTLE    141 - 210
EKIEREKELAEDIMSVEEKANTHLLLGMCLDACARYLLFSKQPSQAQRMYEKALQISEEIQGERHPQTIV    211 - 280
LMSDLATTLDAQGRFDEAYIYMQRASDLARQINHPELHMVLSNLAAVLMHRERYTQAKEIYQEALKQAKL    281 - 350
KKDEISVQHIREELAELSKKSRPLTNSVKL                                            351 - 380
//

Text Mined References (17)

PMID Year Title
25899669 2015 Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
25887401 2015 Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
25416956 2014 A proteome-scale map of the human interactome network.
24397319 2014 Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
23532514 2013 Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21278747 2011 Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20208530 2010 PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody.
16730941 2006 A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231747 2004 A protein interaction framework for human mRNA degradation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.