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Aliases for TTC1 Gene

Aliases for TTC1 Gene

  • Tetratricopeptide Repeat Domain 1 2 3 5
  • TPR Repeat Protein 1 3 4
  • TPR1 3 4
  • Tetratricopeptide Repeat Protein 1 3

External Ids for TTC1 Gene

Previous GeneCards Identifiers for TTC1 Gene

  • GC05P159553
  • GC05P159945
  • GC05P159371
  • GC05P159417
  • GC05P159368
  • GC05P154530
  • GC05P159436

Summaries for TTC1 Gene

Entrez Gene Summary for TTC1 Gene

  • This gene encodes a protein that belongs to the tetratrico peptide repeat superfamily of proteins. The encoded protein plays a role in protein-protein interactions, and binds to the Galpha subunit of G protein-coupled receptors to activate the Ras signaling pathway. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for TTC1 Gene

TTC1 (Tetratricopeptide Repeat Domain 1) is a Protein Coding gene. Diseases associated with TTC1 include Dysthymic Disorder and Tricuspid Valve Insufficiency. Gene Ontology (GO) annotations related to this gene include unfolded protein binding. An important paralog of this gene is SPAG1.

Gene Wiki entry for TTC1 Gene

Additional gene information for TTC1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC1 Gene

Genomics for TTC1 Gene

GeneHancer (GH) Regulatory Elements for TTC1 Gene

Promoters and enhancers for TTC1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I160008 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 558 +0.4 419 2.3 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 IRF4 YY1 TTC1 ENSG00000199398 GC05P160010 ZBED8 PWWP2A EBF1 C1QTNF2 LINC02202 RNF145 ENSG00000223908
GH05I160007 Enhancer 0.4 FANTOM5 550.8 -1.6 -1561 0.4 ZNF384 ENSG00000199398 GC05P160010 TTC1 FABP6 GC05P159980
GH05I160163 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.3 +157.3 157284 4.8 PKNOX1 SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF548 FOS SP3 NFYC ZBED8 C1QTNF2 FABP6 TTC1 PWWP2A GC05P160140
GH05I160019 Enhancer 0.7 ENCODE 8.3 +11.8 11816 2.4 MEIS2 CTCF MXI1 PKNOX1 FOXA2 MAX RAD21 RFX5 SMC3 ZNF143 CCNJL C1QTNF2 TTC1 ENSG00000223908
GH05I160040 Enhancer 0.7 ENCODE 0.3 +30.9 30949 0 HDAC1 FOXA2 CEBPG FEZF1 ZBTB40 FOSL1 CTBP1 GATA3 FOSL2 ATF7 GC05P160046 ENSG00000223908 TTC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC1 gene promoter:

Genomic Locations for TTC1 Gene

Genomic Locations for TTC1 Gene
56,446 bases
Plus strand

Genomic View for TTC1 Gene

Genes around TTC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC1 Gene

Proteins for TTC1 Gene

  • Protein details for TTC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Tetratricopeptide repeat protein 1
    Protein Accession:
    Secondary Accessions:
    • B2RCT2
    • D3DQJ8
    • Q9BVT3

    Protein attributes for TTC1 Gene

    292 amino acids
    Molecular mass:
    33526 Da
    Quaternary structure:
    • Interacts with the GAP domain of NF1 (PubMed:8836031). Interacts (via TPR repeats) with HSP90AA1 and HSPA8 (PubMed:15708368).

neXtProt entry for TTC1 Gene

Post-translational modifications for TTC1 Gene

  • Ubiquitination at isoforms=152
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC1 Gene

No data available for DME Specific Peptides for TTC1 Gene

Domains & Families for TTC1 Gene

Gene Families for TTC1 Gene

Protein Domains for TTC1 Gene

Suggested Antigen Peptide Sequences for TTC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TTC1: view

No data available for UniProtKB/Swiss-Prot for TTC1 Gene

Function for TTC1 Gene

Molecular function for TTC1 Gene

GENATLAS Biochemistry:
tetratricopeptide-repeat containing gene 1,ubiquitously expressed,predominantly expressed in the brain

Phenotypes From GWAS Catalog for TTC1 Gene

Gene Ontology (GO) - Molecular Function for TTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9383998
GO:0051082 unfolded protein binding NAS 8836031
genes like me logo Genes that share ontologies with TTC1: view

Phenotypes for TTC1 Gene

genes like me logo Genes that share phenotypes with TTC1: view

Animal Model Products

CRISPR Products

miRNA for TTC1 Gene

miRTarBase miRNAs that target TTC1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC1 Gene

Localization for TTC1 Gene

Subcellular locations from

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 TTC1 gene
Compartment Confidence
peroxisome 5
cytosol 5
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane HDA,IDA 21525035
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TTC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TTC1 Gene

Pathways & Interactions for TTC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 8836031
genes like me logo Genes that share ontologies with TTC1: view

No data available for Pathways by source and SIGNOR curated interactions for TTC1 Gene

Drugs & Compounds for TTC1 Gene

No Compound Related Data Available

Transcripts for TTC1 Gene

Unigene Clusters for TTC1 Gene

Tetratricopeptide repeat domain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8

Relevant External Links for TTC1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TTC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC1 Gene

Protein differential expression in normal tissues from HIPED for TTC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.6) and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC1 Gene

Protein tissue co-expression partners for TTC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC1 Gene:


SOURCE GeneReport for Unigene cluster for TTC1 Gene:


Evidence on tissue expression from TISSUES for TTC1 Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Lung(2.1)
  • Heart(2)
  • Spleen(2)
genes like me logo Genes that share expression patterns with TTC1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC1 Gene

Orthologs for TTC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TTC1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TTC1 33 34
  • 99.77 (n)
(Canis familiaris)
Mammalia TTC1 33 34
  • 89.5 (n)
(Bos Taurus)
Mammalia TTC1 33 34
  • 88.55 (n)
(Mus musculus)
Mammalia Ttc1 33 16 34
  • 84.99 (n)
(Rattus norvegicus)
Mammalia Ttc1 33
  • 84.42 (n)
(Monodelphis domestica)
Mammalia TTC1 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia TTC1 34
  • 72 (a)
(Gallus gallus)
Aves TTC1 33 34
  • 71.92 (n)
(Anolis carolinensis)
Reptilia TTC1 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100487316 33
  • 69.7 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15001 33
(Danio rerio)
Actinopterygii ttc1 33 34
  • 67.15 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8492 33
fruit fly
(Drosophila melanogaster)
Insecta CG14894 35 33 34
  • 56.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003336 33
  • 52.99 (n)
(Caenorhabditis elegans)
Secernentea C34B2.5 34
  • 32 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TOM70 34
  • 8 (a)
TOM71 34
  • 7 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G30480 33
  • 50.48 (n)
(Oryza sativa)
Liliopsida Os10g0486900 33
  • 49.2 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6035 34
  • 42 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4424 33
Species where no ortholog for TTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTC1 Gene

Gene Tree for TTC1 (if available)
Gene Tree for TTC1 (if available)

Paralogs for TTC1 Gene

Paralogs for TTC1 Gene

genes like me logo Genes that share paralogs with TTC1: view

Variants for TTC1 Gene

Sequence variations from dbSNP and Humsavar for TTC1 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1060499752 likely-pathogenic, Abnormality of brain morphology 160,064,970(+) T/G coding_sequence_variant, missense_variant
rs1000014600 -- 160,013,155(+) T/C intron_variant
rs1000093511 -- 160,044,196(+) A/G intron_variant
rs1000109032 -- 160,050,858(+) T/C intron_variant
rs1000124473 -- 160,044,643(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TTC1 Gene

Variant ID Type Subtype PubMed ID
dgv1150e214 CNV gain 21293372
dgv1151e214 CNV gain 21293372
esv2662749 CNV deletion 23128226
esv2730972 CNV deletion 23290073
esv3607360 CNV loss 21293372
nsv1015634 CNV gain 25217958
nsv528868 CNV loss 19592680
nsv830531 CNV loss 17160897

Variation tolerance for TTC1 Gene

Residual Variation Intolerance Score: 60.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC1 Gene

Disorders for TTC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TTC1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
dysthymic disorder
  • dysthymia
tricuspid valve insufficiency
  • tricuspid incompetence
- elite association - COSMIC cancer census association via MalaCards
Search TTC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTC1

genes like me logo Genes that share disorders with TTC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTC1 Gene

Publications for TTC1 Gene

  1. Identification and characterization of two novel tetratricopeptide repeat-containing genes. (PMID: 8836031) Murthy AE … Gusella JF (DNA and cell biology 1996) 2 3 4 22 58
  2. Small glutamine-rich tetratricopeptide repeat-containing protein is composed of three structural units with distinct functions. (PMID: 15708368) Liou ST … Wang C (Archives of biochemistry and biophysics 2005) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Cooperative interaction of Hsp40 and TPR1 with Hsp70 reverses Hsp70-HspBp1 complex formation. (PMID: 14503850) Oh WK … Song J (Molecules and cells 2003) 3 22 58
  5. Human blue-light photoreceptor hCRY2 specifically interacts with protein serine/threonine phosphatase 5 and modulates its activity. (PMID: 9383998) Zhao S … Sancar A (Photochemistry and photobiology 1997) 3 22 58

Products for TTC1 Gene

Sources for TTC1 Gene

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