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Aliases for TTC19 Gene

Aliases for TTC19 Gene

  • Tetratricopeptide Repeat Domain 19 2 3 5
  • TPR Repeat Protein 19 3 4
  • 2010204O13Rik 3
  • MC3DN2 3

External Ids for TTC19 Gene

Previous GeneCards Identifiers for TTC19 Gene

  • GC17P015843
  • GC17P015769
  • GC17P015902

Summaries for TTC19 Gene

Entrez Gene Summary for TTC19 Gene

  • 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]

GeneCards Summary for TTC19 Gene

TTC19 (Tetratricopeptide Repeat Domain 19) is a Protein Coding gene. Diseases associated with TTC19 include mitochondrial complex iii deficiency, nuclear type 2 and mitochondrial complex iii deficiency. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot for TTC19 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC19 Gene

Genomics for TTC19 Gene

Regulatory Elements for TTC19 Gene

Promoters for TTC19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TTC19 on UCSC Golden Path with GeneCards custom track

Genomic Location for TTC19 Gene

Chromosome:
17
Start:
15,999,380 bp from pter
End:
16,045,015 bp from pter
Size:
45,636 bases
Orientation:
Plus strand

Genomic View for TTC19 Gene

Genes around TTC19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC19 Gene

Proteins for TTC19 Gene

  • Protein details for TTC19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6DKK2-TTC19_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 19, mitochondrial
    Protein Accession:
    Q6DKK2
    Secondary Accessions:
    • A8MZ52
    • B3KP62
    • B4DN65
    • Q2M248
    • Q7L3U8
    • Q9H6G3
    • Q9NXB2

    Protein attributes for TTC19 Gene

    Size:
    380 amino acids
    Molecular mass:
    42457 Da
    Quaternary structure:
    • Interacts with UQCRC1 and UQCRFS1 (By similarity). Interacts with ZFYVE26 and CHMP4B.
    SequenceCaution:
    • Sequence=AAH11698.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAH73796.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI05129.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI12108.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAA91103.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15296.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG51574.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG51820.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for TTC19 Gene

Proteomics data for TTC19 Gene at MOPED

Post-translational modifications for TTC19 Gene

  • Ubiquitination at Lys 251
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC19 Gene

No data available for DME Specific Peptides for TTC19 Gene

Domains & Families for TTC19 Gene

Gene Families for TTC19 Gene

Protein Domains for TTC19 Gene

Suggested Antigen Peptide Sequences for TTC19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6DKK2

UniProtKB/Swiss-Prot:

TTC19_HUMAN :
  • Belongs to the TTC19 family.
  • Contains 5 TPR repeats.
Family:
  • Belongs to the TTC19 family.
Similarity:
  • Contains 5 TPR repeats.
genes like me logo Genes that share domains with TTC19: view

Function for TTC19 Gene

Molecular function for TTC19 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes for TTC19 Gene

GenomeRNAi human phenotypes for TTC19:
genes like me logo Genes that share phenotypes with TTC19: view

Human Phenotype Ontology for TTC19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TTC19 Gene

miRTarBase miRNAs that target TTC19

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC19 Gene

Localization for TTC19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC19 Gene

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:0000269 PubMed:20208530, ECO:0000269 PubMed:21278747}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC19 Gene COMPARTMENTS Subcellular localization image for TTC19 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for TTC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane IDA 21278747
GO:0030496 midbody TAS 20208530
genes like me logo Genes that share ontologies with TTC19: view

Pathways & Interactions for TTC19 Gene

SuperPathways for TTC19 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000910 cytokinesis TAS 20208530
genes like me logo Genes that share ontologies with TTC19: view

No data available for Pathways by source and SIGNOR curated interactions for TTC19 Gene

Drugs & Compounds for TTC19 Gene

No Compound Related Data Available

Transcripts for TTC19 Gene

Unigene Clusters for TTC19 Gene

Tetratricopeptide repeat domain 19:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC19 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6: - -
SP7:
SP8:

Relevant External Links for TTC19 Gene

GeneLoc Exon Structure for
TTC19
ECgene alternative splicing isoforms for
TTC19

Expression for TTC19 Gene

mRNA expression in normal human tissues for TTC19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TTC19 Gene

This gene is overexpressed in Bone (13.2) and Plasma (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TTC19 Gene



SOURCE GeneReport for Unigene cluster for TTC19 Gene Hs.462316

genes like me logo Genes that share expression patterns with TTC19: view

Protein tissue co-expression partners for TTC19 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TTC19 Gene

Orthologs for TTC19 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC19 36
  • 76 (a)
OneToOne
TTC19 35
  • 99.73 (n)
  • 99.73 (a)
cow
(Bos Taurus)
Mammalia TTC19 35
  • 81.28 (n)
  • 75.89 (a)
TTC19 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC19 36
  • 89 (a)
OneToOne
TTC19 35
  • 90.84 (n)
  • 89.07 (a)
mouse
(Mus musculus)
Mammalia Ttc19 16
Ttc19 36
  • 85 (a)
OneToOne
Ttc19 35
  • 84.57 (n)
  • 83.01 (a)
oppossum
(Monodelphis domestica)
Mammalia TTC19 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC19 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc19 35
  • 84.85 (n)
  • 83.24 (a)
chicken
(Gallus gallus)
Aves TTC19 35
  • 63.78 (n)
  • 56.42 (a)
TTC19 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC19 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485992 35
  • 61.13 (n)
  • 54.51 (a)
zebrafish
(Danio rerio)
Actinopterygii ttc19 36
  • 39 (a)
OneToOne
ttc19 35
  • 56.74 (n)
  • 51.06 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008033 35
  • 43.35 (n)
  • 31.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ttc19 36
  • 21 (a)
OneToOne
Ttc19 35
  • 43 (n)
  • 26.34 (a)
worm
(Caenorhabditis elegans)
Secernentea ddl-3 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1671 36
  • 29 (a)
OneToOne
Species with no ortholog for TTC19:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTC19 Gene

ENSEMBL:
Gene Tree for TTC19 (if available)
TreeFam:
Gene Tree for TTC19 (if available)

Paralogs for TTC19 Gene

(1) SIMAP similar genes for TTC19 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TTC19: view

No data available for Paralogs for TTC19 Gene

Variants for TTC19 Gene

Sequence variations from dbSNP and Humsavar for TTC19 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs2301651 -- 16,025,286(-) GGGGA(C/G)CAAGG intron-variant
rs2301652 -- 16,025,270(-) CTAGG(A/C)CCATC intron-variant
rs3207384 -- 16,027,396(+) AAAGA(C/G)ATCTA reference, missense
rs3744328 -- 16,027,568(-) TAGCT(A/G)TTCTT utr-variant-3-prime
rs3760298 -- 16,001,876(-) ACATA(C/T)AGTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC19 Gene

Variant ID Type Subtype PubMed ID
esv2715702 CNV Deletion 23290073
nsv907706 CNV Gain 21882294
dgv3062n71 CNV Gain 21882294
esv29086 CNV Loss 19812545
nsv833377 CNV Loss 17160897
nsv522169 CNV Gain 19592680

Variation tolerance for TTC19 Gene

Residual Variation Intolerance Score: 58.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.96; 68.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC19 Gene

HapMap Linkage Disequilibrium report
TTC19
Human Gene Mutation Database (HGMD)
TTC19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC19 Gene

Disorders for TTC19 Gene

MalaCards: The human disease database

(7) MalaCards diseases for TTC19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TTC19 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTC19_HUMAN
  • 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:0000269 PubMed:21278747}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC19

Genetic Association Database (GAD)
TTC19
Human Genome Epidemiology (HuGE) Navigator
TTC19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC19
genes like me logo Genes that share disorders with TTC19: view

No data available for Genatlas for TTC19 Gene

Publications for TTC19 Gene

  1. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. (PMID: 21278747) Ghezzi D. … Zeviani M. (Nat. Genet. 2011) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: A case report and literature review. (PMID: 25899669) Mordaunt D.A. … Yu S. (Am. J. Med. Genet. A 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. (PMID: 24397319) Morino H. … Kawakami H. (BMC Neurol 2014) 3

Products for TTC19 Gene

Sources for TTC19 Gene

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