Version 5.4
Homo sapiens Protein: TTC19
Summary
InnateDB Protein IDBP-31949.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TTC19
Protein Name tetratricopeptide repeat domain 19
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000261647
InnateDB Gene IDBG-31947 (TTC19)
Protein Structure
UniProt Annotation
Function Mitochondrial protein required for formation of the mitochondrial complex III (PubMed:21278747). May also be required for the abcission step in cytokinesis, possibly regulating the ESCRT-III complex via its interaction with CHMP4B (PubMed:20208530). However, the involvement in cytokinesis requires additional experimental evidence. {ECO:0000269PubMed:20208530, ECO:0000269PubMed:21278747}.
Subcellular Localization Mitochondrion inner membrane. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=According to some authors, localizes to the centrosome during all stages of the cell cycle and is recruited to the midbody during cytokinesis (PubMed:20208530). However, the midbody localization could not be confirmed by others (PubMed:21278747). {ECO:0000269PubMed:20208530, ECO:0000269PubMed:21278747}.
Disease Associations Mitochondrial complex III deficiency, nuclear 2 (MC3DN2) [MIM:615157]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. {ECO:0000269PubMed:21278747}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0000910 cytokinesis
GO:0034551 mitochondrial respiratory chain complex III assembly
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005813 centrosome
GO:0030496 midbody
Protein Structure and Domains
PDB ID
InterPro IPR013026 Tetratricopeptide repeat-containing domain
IPR019734 Tetratricopeptide repeat
PFAM PF13174
PF13176
PF13181
PRINTS
PIRSF
SMART SM00028
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6DKK2
PhosphoSite PhosphoSite-Q6DKK2
TrEMBL A0A024RD83
UniProt Splice Variant
Entrez Gene 54902
UniGene Hs.462316
RefSeq NP_060245
HUGO HGNC:26006
OMIM 613814
CCDS CCDS11174
HPRD 07899
IMGT
EMBL AC002553 AC006251 AK000350 AK025958 AK055780 AK056878 AK297783 BC011698 BC073796 BC105128 BC112107 CH471222
GenPept AAH11698 AAH73796 AAI05129 AAI12108 BAA91103 BAB15296 BAG51574 BAG51820 BAG60127 EAX04490 EAX04491

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca