TTC19 - tetratricopeptide repeat domain 19 Gene
Also Known as MC3DN2; 2010204O13Rik
Species: Homo sapiens
About TTC19
This gene has 10 transcripts (splice variants), 202 orthologues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), brain (RPKM 8.1) and 25 other tissues.
Summary
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and Plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
TTC19 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001271420.2 | NP_001258349.1 | tetratricopeptide repeat protein 19, mitochondrial isoform 2 |
| NM_017775.4 | NP_060245.3 | tetratricopeptide repeat protein 19, mitochondrial isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16713569 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mitochondrial respiratory chain complex III assembly |
IMP
IMP: Inferred from mutant phenotype
|
21278747 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
21278747 | GOA |
TTC19 Protein Structure
ANAPC5: Anaphase-promoting complex subunit 5 (98 - 145)
TPR_12: Tetratricopeptide repeat (234 - 311)
TPR_10: Tetratricopeptide repeat (319 - 345)
- 0
- 100
- 200
- 300
- 380 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tetratricopeptide repeat protein 19, mitochondrial |
|
TTC19 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TTC19 | Q6DKK2 | APRT | Homo sapiens | P07741 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | APRT | Homo sapiens | P07741 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FH | Homo sapiens | P07954 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FH | Homo sapiens | P07954 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | JPH3 | Homo sapiens | Q8WXH2 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | MXRA8 | Homo sapiens | Q9BRK3 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | MXRA8 | Homo sapiens | Q9BRK3 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | MXRA8 | Homo sapiens | Q9BRK3 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | USP54 | Homo sapiens | Q70EL1-9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | L3MBTL3 | Homo sapiens | Q96JM7-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | L3MBTL3 | Homo sapiens | Q96JM7-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | L3MBTL3 | Homo sapiens | Q96JM7-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | PRR35 | Homo sapiens | P0CG20 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | PRR35 | Homo sapiens | P0CG20 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | POU6F2 | Homo sapiens | P78424 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | POU6F2 | Homo sapiens | P78424 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SHISA6 | Homo sapiens | Q6ZSJ9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SHISA6 | Homo sapiens | Q6ZSJ9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SHISA6 | Homo sapiens | Q6ZSJ9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | CIMIP1 | Homo sapiens | Q9H1P6 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SLC22A18AS | Homo sapiens | Q8N1D0-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SLC22A18AS | Homo sapiens | Q8N1D0-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SLC22A18AS | Homo sapiens | Q8N1D0-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | HOXD12 | Homo sapiens | P35452-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | HOXD12 | Homo sapiens | P35452-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | MLN | Homo sapiens | P12872 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | MLN | Homo sapiens | P12872 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FTO | Homo sapiens | Q9C0B1-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FTO | Homo sapiens | Q9C0B1-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FTO | Homo sapiens | Q9C0B1-2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM217B | Homo sapiens | Q9NTX9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM217B | Homo sapiens | Q9NTX9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM217B | Homo sapiens | Q9NTX9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | L3MBTL3 | Homo sapiens | Q96JM7 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | TBX2 | Homo sapiens | Q13207 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | TBX2 | Homo sapiens | Q13207 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | LDB2 | Homo sapiens | O43679 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | LDB2 | Homo sapiens | O43679 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SMG9 | Homo sapiens | Q9H0W8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | COA6 | Homo sapiens | Q5JTJ3 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | COA6 | Homo sapiens | Q5JTJ3 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | REL | Homo sapiens | Q04864 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM136A | Homo sapiens | Q96C01 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM136A | Homo sapiens | Q96C01 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | FAM136A | Homo sapiens | Q96C01 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | ZNF688 | Homo sapiens | P0C7X2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | HTRA2 | Homo sapiens | O43464 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | HTRA2 | Homo sapiens | O43464 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | HTRA2 | Homo sapiens | O43464 | 32814053 | |
|
Intra
|
TTC19 | Q6DKK2 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | RUSC1 | Homo sapiens | Q9BVN2 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | NME4 | Homo sapiens | O00746 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | NME4 | Homo sapiens | O00746 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | SH2D4A | Homo sapiens | Q9H788 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | IHO1 | Homo sapiens | Q8IYA8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | IHO1 | Homo sapiens | Q8IYA8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | IHO1 | Homo sapiens | Q8IYA8 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | IHO1 | Homo sapiens | Q8IYA8 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | IHO1 | Homo sapiens | Q8IYA8 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | NAB2 | Homo sapiens | Q15742 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | NAB2 | Homo sapiens | Q15742 | 25416956 | |
|
Intra
|
TTC19 | Q6DKK2 | ATXN1 | Homo sapiens | P54253 | 16713569 | |
|
Intra
|
TTC19 | Q6DKK2 | TCAP | Homo sapiens | O15273 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | TCAP | Homo sapiens | O15273 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | TCAP | Homo sapiens | O15273 | 23414517 | |
|
Intra
|
TTC19 | Q6DKK2 | DMRT3 | Homo sapiens | Q9NQL9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | DMRT3 | Homo sapiens | Q9NQL9 | 32296183 | |
|
Intra
|
TTC19 | Q6DKK2 | DMRT3 | Homo sapiens | Q9NQL9 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
|
| Isolated Complex Iii Deficiency |
|
|
| Mitochondrial Complex Iii Deficiency |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
|
| Gracile Syndrome |
|
|
| Gait Apraxia |
|
|
| Combined Oxidative Phosphorylation Deficiency 22 |
|
|
| Mitochondrial Complex V Deficiency, Mitochondrial Type 1 |
|
|
| Combined Oxidative Phosphorylation Deficiency 18 |
|
|
| Charcot-Marie-Tooth Disease, Type 4k |
|
|
| Spastic Paraplegia 15, Autosomal Recessive |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2ee |
|
|
| 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia |
|
|
| Mitochondrial Complex V Deficiency, Nuclear Type 3 |
|
|
| Mitochondrial Metabolism Disease |
|
|
| Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency |
|
|
| Leigh Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | TTC19 | MGD | MGI:1920045 |
| Felis catus | TTC19 | VGNC | VGNC:66655 |
| Macaca mulatta | TTC19 | VGNC | VGNC:79567 |
| Rattus norvegicus | TTC19 | RGD | RGD:1582808 |
| Canis familiaris | TTC19 | VGNC | VGNC:47941 |
| Bos taurus | TTC19 | VGNC | VGNC:36458 |
| Others | TTC19 | NCBI |