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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
  • Tetratricopeptide Repeat Protein 19, Mitochondrial 3
  • 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 CIViC summary , 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

Enhancers for TTC19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G015962 1.7 FANTOM5 Ensembl ENCODE dbSUPER 19.4 -34.2 -34201 5.8 ELF3 PKNOX1 FOXA2 ZFP64 ARID4B ZNF76 KLF17 ZSCAN9 RARA GLIS2 ZSWIM7 ADORA2B TTC19 RNU6-314P NCOR1 CDRT1 PIR48319
GH17G015955 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14 -41.3 -41288 4.4 HDGF PKNOX1 FOXA2 ARNT ZNF2 ZNF766 FOS JUNB TBX21 MEF2D ZSWIM7 TTC19 RNU6-314P NCOR1 PIGL ADORA2B PIR48319
GH17G015944 1.7 FANTOM5 ENCODE dbSUPER 13.3 -52.7 -52746 4.6 PKNOX1 ATF1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 ZSWIM7 TTC19 PIGL MEIS3P1 ADORA2B PIR48319 GC17P015935
GH17G015952 1.2 Ensembl ENCODE dbSUPER 11.9 -45.4 -45352 3.1 JUN BHLHE40 SIN3A MAX ZNF507 JUND ZNF316 BCL6B FOS EMSY TTC19 ZSWIM7 ENSG00000265519 ADORA2B MEIS3P1 PIGL PIR48319 GC17P015935
GH17G015913 1.1 FANTOM5 Ensembl ENCODE 12.9 -84.7 -84719 1.6 TBP JUND CEBPB EP300 MGA ADORA2B ZSWIM7 TTC19 GC17P015909 GC17P015908
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC19 on UCSC Golden Path with GeneCards custom track

Promoters for TTC19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000091708 320 2201 HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 ARID4B SIN3A DMAP1

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

Post-translational modifications for TTC19 Gene

  • Ubiquitination at Lys251
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC19 Gene

Domains & Families for TTC19 Gene

Gene Families 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.
Family:
  • Belongs to the TTC19 family.
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.

Gene Ontology (GO) - Molecular Function for TTC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20208530
genes like me logo Genes that share ontologies with TTC19: view

Phenotypes for TTC19 Gene

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

CRISPR Products

miRNA for TTC19 Gene

miRTarBase miRNAs that target TTC19

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IDA,IEA 21278747
GO:0005813 centrosome TAS 20208530
GO:0005815 microtubule organizing center IEA --
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
GO:0007049 cell cycle IEA --
GO:0034551 mitochondrial respiratory chain complex III assembly IMP 21278747
GO:0051301 cell division IEA --
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

Transcripts for TTC19 Gene

Unigene Clusters for TTC19 Gene

Tetratricopeptide repeat domain 19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for TTC19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC19 Gene:

TTC19

SOURCE GeneReport for Unigene cluster for TTC19 Gene:

Hs.462316

Evidence on tissue expression from TISSUES for TTC19 Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • larynx
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • vocal cord
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • testicle
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with TTC19: view

Primer 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 34 35
  • 99.73 (n)
dog
(Canis familiaris)
Mammalia TTC19 34 35
  • 90.84 (n)
rat
(Rattus norvegicus)
Mammalia Ttc19 34
  • 84.85 (n)
mouse
(Mus musculus)
Mammalia Ttc19 34 16 35
  • 84.57 (n)
cow
(Bos Taurus)
Mammalia TTC19 34 35
  • 81.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTC19 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC19 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC19 34 35
  • 63.78 (n)
lizard
(Anolis carolinensis)
Reptilia TTC19 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485992 34
  • 61.13 (n)
zebrafish
(Danio rerio)
Actinopterygii ttc19 34 35
  • 56.74 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008033 34
  • 43.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ttc19 34 35
  • 43 (n)
worm
(Caenorhabditis elegans)
Secernentea ddl-3 35
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1671 35
  • 29 (a)
OneToOne
Species where no ortholog for TTC19 was found in the sources mined by GeneCards:
  • 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
rs387907094 Pathogenic 16,003,885(+) TGAAG(C/T)AGGTA nc-transcript-variant, reference, stop-gained
rs747166010 Pathogenic 16,006,548(+) GGAAT(G/T)AGCAG nc-transcript-variant, reference, stop-gained
rs759514548 Pathogenic 16,000,168(+) AGCAG(G/T)GAGCC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs769078093 Pathogenic 15,999,807(+) GCCAG(A/G/T)AGCGC nc-transcript-variant, upstream-variant-2KB, reference, missense, stop-gained, utr-variant-5-prime
rs779592523 Pathogenic 16,000,127(+) CGCCT(A/C/G)GTTCT nc-transcript-variant, upstream-variant-2KB, reference, missense, stop-gained, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv3107n100 CNV gain 25217958
dgv3108n100 CNV gain 25217958
esv2715702 CNV deletion 23290073
esv29086 CNV loss 19812545
esv3572431 CNV gain 25503493
esv3640094 CNV loss 21293372
esv3892973 CNV gain 25118596
nsv522169 CNV gain 19592680
nsv833377 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
TTC19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC19

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

Disorders for TTC19 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mitochondrial complex iii deficiency, nuclear type 2
  • mitochondrial complex iii deficiency nuclear type 2
mitochondrial complex iii deficiency
  • complex 3 mitochondrial respiratory chain deficiency
mitochondrial respiratory chain complex iii deficiency, ttc19-related
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- 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 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody. (PMID: 20208530) Sagona A.P. … Stenmark H. (Nat. Cell Biol. 2010) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TTC19 Gene

Sources for TTC19 Gene

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