TTC19 - tetratricopeptide repeat domain 19 Gene

Also Known as MC3DN2; 2010204O13Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54902

About TTC19

Cytogenetic location: 17p12 Genomic coordinates (GRCh38): 17:15,999,824-16,045,015 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TTC19 Protein Structure

ANAPC5

ANAPC5: Anaphase-promoting complex subunit 5 (98 - 145)

TPR_12

TPR_12: Tetratricopeptide repeat (234 - 311)

TPR_10

TPR_10: Tetratricopeptide repeat (319 - 345)

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

tetratricopeptide repeat protein 19, mitochondrial

  • TPR repeat protein 19

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
Y2H
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
  • Mitochondrial Complex Iii Deficiency Nuclear Type 2

  • MC3DN2

  • Mitochondrial Complex Ii Deficiency, Nuclear Type 3

  • MC2DN3

  • Mitochondrial Complex 2 Deficiency, Nuclear Type 3

  • Mitochondrial Complex Iii Deficiency, Nuclear 2

Isolated Complex Iii Deficiency
  • Isolated Coq-Cytochrome C Reductase Deficiency

  • Isolated Coenzyme Q-Cytochrome C Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex Iii Deficiency

  • Isolated Ubiquinone-Cytochrome C Reductase Deficiency

Mitochondrial Complex Iii Deficiency
  • Complex 3 Mitochondrial Respiratory Chain Deficiency

  • Isolated Coq-Cytochrome C Reductase Deficiency

  • Ubiquinone-Cytochrome C Oxidoreductase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear Type 5
  • Leigh Syndrome, French Canadian Type

  • Mitochondrial Complex V Deficiency Nuclear Type 4

  • Cytochrome C Oxidase Deficiency, French Canadian Type

  • Lsfc

  • Cox Deficiency, French Canadian Type

  • MC5DN4

  • MC4DN5

  • Cox Deficiency, Saguenay-Lac-Saint-Jean Type

  • Leigh Syndrome, Saguenay-Lac-Saint-Jean Type

  • Mitochondrial Complex V Deficiency, Nuclear Type 4

  • French Canadian Leigh Disease

  • Leigh Syndrome, French-Canadian Type

  • Leigh Syndrome , French Canadian Type

  • Mitochondrial Complex V Deficiency, Atp5a1 Type

  • French Canadian Type Cox Deficiency

  • French Canadian Type Cytochrome C Oxidase Deficiency

  • French Canadian Type Leigh Syndrome

  • Saguenay Lac Saint Jean Type Cox Deficiency

  • Saguenay Lac Saint Jean Type Leigh Syndrome

  • Cox Deficiency, Saguenay Lac Saint Jean Type

  • Leigh Syndrome, Saguenay Lac Saint Jean Type

  • Mitochondrial Complex V Deficiency, Nuclear Type 4

  • Mitochondrial Complex V Deficiency Atp5a1 Type

  • Mitochondrial Complex V Deficiency Type 4

  • Mitochondrial Complex V Deficiency, Nuclear, Type 4

Gracile Syndrome
  • Finnish Lethal Neonatal Metabolic Syndrome

  • Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death

  • Flnms

  • Fellman Syndrome

  • Fellman Disease

  • Finnish Lactic Acidosis With Hepatic Hemosiderosis

  • Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

  • Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

  • Lactic Acidosis, Finnish, With Hepatic Hemosiderosis

  • Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death

  • GRACILE

Gait Apraxia
Combined Oxidative Phosphorylation Deficiency 22
  • COXPD22

  • Oxidative Phosphorylation Deficiency, Combined, Type 22

Mitochondrial Complex V Deficiency, Mitochondrial Type 1
  • MC5DM1

  • Mitochondrial Complex V Deficiency Mitochondrial Type 1

  • Mitochondrial Complex V Deficiency, Mitochondrial 1

  • Adult-Onset Ataxia And Polyneuropathy

  • Infantile Hypertrophic Cardiomyopathy

  • Mitochondrial Complex 5 Deficiency, Mitochondrial Type 1

Combined Oxidative Phosphorylation Deficiency 18
  • Growth And Developmental Delay-Hypotonia-Vision Impairment-Lactic Acidosis Syndrome

  • COXPD18

  • Combined Oxidative Phosphorylation Deficiency, Type 18

Charcot-Marie-Tooth Disease, Type 4k
  • Charcot-Marie-Tooth Disease Type 4k

  • CMT4K

  • Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

  • Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

  • Surf1-Related Charcot-Marie-Tooth Disease Type 4

  • Surf1-Related Cmt4

  • Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

  • Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

  • Charcot-Marie-Tooth Disease 4k

  • Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

  • Charcot-Marie-Tooth Neuropathy, Type 4k

Spastic Paraplegia 15, Autosomal Recessive
  • SPG15

  • Kjellin Syndrome

  • Hereditary Spastic Paraplegia 15

  • Spastic Paraplegia And Retinal Degeneration

  • Autosomal Recessive Spastic Paraplegia Type 15

  • Hereditary Spastic Paraparesis Type 15

  • Spastic Paraplegia-Retinal Degeneration Syndrome

  • Autosomal Recessive Spastic Paraplegia 15

Charcot-Marie-Tooth Disease, Axonal, Type 2ee
  • CMT2EE

  • Charcot-Marie-Tooth Neuropathy, Type 2ee

  • Charcot-Marie-Tooth Disease Type 2ee

  • Charcot-Marie-Tooth Disease, Axonal, 2ee

3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement And Neutropenia
  • 3-Methylglutaconic Aciduria Type 7

  • Mga7

  • 3-Methylglutaconic Aciduria Type Vii

  • Megcann

  • Mgca7

  • 3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome

  • 3-Methylglutaconic Aciduria With Cataracts, Neurologic Involvement, And Neutropenia

Mitochondrial Complex V Deficiency, Nuclear Type 3
  • Mitochondrial Complex Iii Deficiency Nuclear Type 5

  • MC5DN3

  • Mitochondrial Complex Iii Deficiency, Nuclear Type 5

  • Mitochondrial Complex V Deficiency Nuclear Type 3

  • MC3DN5

  • Mitochondrial Complex V Deficiency, Atp5e Type

  • Mitochondrial Complex Iii Deficiency, Nuclear 5

  • Mitochondrial Complex V Deficiency, Nuclear Type 3

  • Mitochondrial Complex V Deficiency Atp5e Type

  • Mitochondrial Complex V Deficiency Type 3

  • Mitochondrial Complex V Deficiency, Nuclear, Type 3

Mitochondrial Metabolism Disease
  • Abnormality Of Mitochondrial Metabolism

  • Mitochondrial Diseases

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency
  • Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

  • Fatal Infantile Cox Deficiency

  • Fatal Infantile Cytochrome C Oxidase Deficiency

  • Fatal Infantile Encephalocardiomyopathy

Leigh Syndrome
  • Leigh Disease

  • Infantile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

  • LS

  • Sne

  • Leigh'S Disease

  • Leigh Syndrome Due To Mitochondrial Complex I Deficiency

  • Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

  • Subacute Necrotizing Encephalomyelopathy

  • Necrotizing Encephalopathy Infantile Subacute Of Leigh

  • Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

  • Infantile Necrotizing Encephalomyelopathy

  • Juvenile Subacute Necrotizing Encephalomyelopathy

  • Leigh'S Necrotizing Encephalopathy

  • Subacute Necrotizing Encephalopathy

  • Juvenile Subacute Necrotizing Encephalopathy

  • Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

  • Leigh Syndrome Due To Mitochondrial Complex V Deficiency

  • Encephalopathy, Subacute Necrotizing, Infantile

  • Encephalopathy, Subacute Necrotizing, Juvenile

  • Maternally Inherited Leigh Syndrome

  • Subacute Necrotising Encephalomyelopathy

  • Subacute Necrotising Encephalopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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