1. Gene
  2. TTC19 - tetratricopeptide repeat domain 19 Gene

TTC19 - tetratricopeptide repeat domain 19 Gene

Homo sapiens

Also known as MC3DN2; 2010204O13Rik

Gene ID: 54902 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16713569 GOA
Biological Process GO Annotation Evidence Reference Source
involved in mitochondrial respiratory chain complex III assembly IMP
IMP: Inferred from mutant phenotype
21278747 GOA
Cellular Component GO Annotation Evidence Reference 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 Reference
Intra
TTC19 Q6DKK2 APRT Homo sapiens P07741
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 APRT Homo sapiens P07741
Y2H Array
32296183
Intra
TTC19 Q6DKK2 FH Homo sapiens P07954
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 FH Homo sapiens P07954
Y2H Array
32296183
Intra
TTC19 Q6DKK2 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra
TTC19 Q6DKK2 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra
TTC19 Q6DKK2 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra
TTC19 Q6DKK2 MXRA8 Homo sapiens Q9BRK3
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 MXRA8 Homo sapiens Q9BRK3
Y2H Array
32296183
Intra
TTC19 Q6DKK2 MXRA8 Homo sapiens Q9BRK3
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 USP54 Homo sapiens Q70EL1-9
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 USP54 Homo sapiens Q70EL1-9
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 USP54 Homo sapiens Q70EL1-9
Y2H Array
32296183
Intra
TTC19 Q6DKK2 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 L3MBTL3 Homo sapiens Q96JM7-2
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 L3MBTL3 Homo sapiens Q96JM7-2
Y2H Array
32296183
Intra
TTC19 Q6DKK2 PRR35 Homo sapiens P0CG20
Y2H Array
32296183
Intra
TTC19 Q6DKK2 PRR35 Homo sapiens P0CG20
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra
TTC19 Q6DKK2 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 SHISA6 Homo sapiens Q6ZSJ9
Y2H Array
32296183
Intra
TTC19 Q6DKK2 SHISA6 Homo sapiens Q6ZSJ9
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 SHISA6 Homo sapiens Q6ZSJ9
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 CIMIP1 Homo sapiens Q9H1P6
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 CIMIP1 Homo sapiens Q9H1P6
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 CIMIP1 Homo sapiens Q9H1P6
Y2H Array
32296183
Intra
TTC19 Q6DKK2 SLC22A18AS Homo sapiens Q8N1D0-2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 SLC22A18AS Homo sapiens Q8N1D0-2
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 SLC22A18AS Homo sapiens Q8N1D0-2
Y2H Array
32296183
Intra
TTC19 Q6DKK2 HOXD12 Homo sapiens P35452-2
Y2H Array
32296183
Intra
TTC19 Q6DKK2 HOXD12 Homo sapiens P35452-2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 MLN Homo sapiens P12872
Y2H Array
32296183
Intra
TTC19 Q6DKK2 MLN Homo sapiens P12872
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 FTO Homo sapiens Q9C0B1-2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 FTO Homo sapiens Q9C0B1-2
Y2H Array
32296183
Intra
TTC19 Q6DKK2 FTO Homo sapiens Q9C0B1-2
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 FAM217B Homo sapiens Q9NTX9
Y2H Array
32296183
Intra
TTC19 Q6DKK2 FAM217B Homo sapiens Q9NTX9
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 FAM217B Homo sapiens Q9NTX9
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 L3MBTL3 Homo sapiens Q96JM7
Y2H Array
25416956
Intra
TTC19 Q6DKK2 TBX2 Homo sapiens Q13207
Y2H Array
32296183
Intra
TTC19 Q6DKK2 TBX2 Homo sapiens Q13207
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 LDB2 Homo sapiens O43679
Y2H Array
32296183
Intra
TTC19 Q6DKK2 LDB2 Homo sapiens O43679
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 SMG9 Homo sapiens Q9H0W8
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 COA6 Homo sapiens Q5JTJ3
Y2H Array
32296183
Intra
TTC19 Q6DKK2 COA6 Homo sapiens Q5JTJ3
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra
TTC19 Q6DKK2 REL Homo sapiens Q04864
Validated Y2H
25416956
Intra
TTC19 Q6DKK2 FAM136A Homo sapiens Q96C01
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 FAM136A Homo sapiens Q96C01
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 FAM136A Homo sapiens Q96C01
Y2H Array
32296183
Intra
TTC19 Q6DKK2 ZNF688 Homo sapiens P0C7X2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 HTRA2 Homo sapiens O43464
Validated Y2H
32814053
Intra
TTC19 Q6DKK2 HTRA2 Homo sapiens O43464
Y2H Pooling
32814053
Intra
TTC19 Q6DKK2 HTRA2 Homo sapiens O43464
Y2H Array
32814053
Intra
TTC19 Q6DKK2 RUSC1 Homo sapiens Q9BVN2
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 RUSC1 Homo sapiens Q9BVN2
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 RUSC1 Homo sapiens Q9BVN2
Y2H Array
32296183
Intra
TTC19 Q6DKK2 GORASP2 Homo sapiens Q9H8Y8
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 GORASP2 Homo sapiens Q9H8Y8
Y2H Array
32296183
Intra
TTC19 Q6DKK2 NME4 Homo sapiens O00746
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 NME4 Homo sapiens O00746
Y2H Array
32296183
Intra
TTC19 Q6DKK2 SH2D4A Homo sapiens Q9H788
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 IHO1 Homo sapiens Q8IYA8
Y2H Array
32296183
Intra
TTC19 Q6DKK2 IHO1 Homo sapiens Q8IYA8
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 IHO1 Homo sapiens Q8IYA8
Y2H Prey Pooling
25416956
Intra
TTC19 Q6DKK2 IHO1 Homo sapiens Q8IYA8
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 IHO1 Homo sapiens Q8IYA8
Y2H Array
25416956
Intra
TTC19 Q6DKK2 NAB2 Homo sapiens Q15742
Validated Y2H
25416956
Intra
TTC19 Q6DKK2 NAB2 Homo sapiens Q15742
Y2H Array
25416956
Intra
TTC19 Q6DKK2 ATXN1 Homo sapiens P54253
Y2H
16713569
Intra
TTC19 Q6DKK2 TCAP Homo sapiens O15273
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 TCAP Homo sapiens O15273
Y2H Array
32296183
Intra
TTC19 Q6DKK2 TCAP Homo sapiens O15273
Y2H Fragment Pooling
23414517
Intra
TTC19 Q6DKK2 DMRT3 Homo sapiens Q9NQL9
Y2H Prey Pooling
32296183
Intra
TTC19 Q6DKK2 DMRT3 Homo sapiens Q9NQL9
Validated Y2H
32296183
Intra
TTC19 Q6DKK2 DMRT3 Homo sapiens Q9NQL9
Y2H Array
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