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Aliases for TTC3 Gene

Aliases for TTC3 Gene

  • Tetratricopeptide Repeat Domain 3 2 3 5
  • RING-Type E3 Ubiquitin Transferase TTC3 3 4
  • Tetratricopeptide Repeat Protein 3 3 4
  • RING Finger Protein 105 3 4
  • TPR Repeat Protein 3 3 4
  • TPR Repeat Protein D 3 4
  • RNF105 3 4
  • DCRR1 3 4
  • E3 Ubiquitin-Protein Ligase TTC3 3
  • Protein DCRR1 4
  • EC 2.3.2.27 4
  • TPRDIII 3
  • TPRD 4

External Ids for TTC3 Gene

Previous GeneCards Identifiers for TTC3 Gene

  • GC21P035035
  • GC21P037375
  • GC21P037378
  • GC21P037376
  • GC21P037367
  • GC21P038445
  • GC21P023921

Summaries for TTC3 Gene

GeneCards Summary for TTC3 Gene

TTC3 (Tetratricopeptide Repeat Domain 3) is a Protein Coding gene. Diseases associated with TTC3 include Retinitis Pigmentosa 58 and Down Syndrome. GO annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is DZIP3.

UniProtKB/Swiss-Prot for TTC3 Gene

  • E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of Lys-48-polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT.

Gene Wiki entry for TTC3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC3 Gene

Genomics for TTC3 Gene

Regulatory Elements for TTC3 Gene

Enhancers for TTC3 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
GH21G037071 1.2 ENCODE 73 -0.1 -83 4.2 CREB3L1 DMAP1 YY1 ZNF416 ZNF548 ZNF263 SP3 NFYC ZNF610 GLIS1 TTC3 PIGP SETD4 ENSG00000242553 MORC3 TTC3-AS1 LOC100133286 LOC105372795
GH21G037152 1 ENCODE 65.8 +80.8 80812 2.4 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 FOS SP5 TTC3 HLCS MRPL20P1 ENSG00000207416 ENSG00000273199 TTC3-AS1 ENSG00000270116
GH21G037059 1.2 Ensembl ENCODE 53 -12.4 -12378 2.6 FOXA2 ARID4B SIN3A FEZF1 ZNF2 FOS ZNF263 TSHZ1 REST SREBF1 PIGP TTC3 MRPL20P1 HLCS ENSG00000207416 LOC105372795 GC21P037046
GH21G037206 1.2 Ensembl ENCODE 49.1 +134.8 134792 3.1 HDGF PKNOX1 FOXA2 WRNIP1 ARID4B ZNF48 ZNF143 ZNF207 FOS MXD4 TTC3 PIGP DSCR3 DSCR9 GC21P037206
GH21G037256 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.6 +185.0 184995 4.1 HDGF PKNOX1 FOXA2 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 TTC3 PIGP TTC3-AS1 DYRK1A ENSG00000272948 ENSG00000242553
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC3 on UCSC Golden Path with GeneCards custom track

Promoters for TTC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142112 274 3001 HDGF ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5

Genomic Location for TTC3 Gene

Chromosome:
21
Start:
37,073,226 bp from pter
End:
37,203,112 bp from pter
Size:
129,887 bases
Orientation:
Plus strand

Genomic View for TTC3 Gene

Genes around TTC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC3 Gene

Proteins for TTC3 Gene

  • Protein details for TTC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53804-TTC3_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase TTC3
    Protein Accession:
    P53804
    Secondary Accessions:
    • A8K7H7
    • B2RPA7
    • D3DSG9
    • D3DSH2
    • D3DSH3
    • O60767
    • P78476
    • P78477
    • Q569I2
    • Q6P578
    • Q9UEK4

    Protein attributes for TTC3 Gene

    Size:
    2025 amino acids
    Molecular mass:
    229869 Da
    Quaternary structure:
    • Interacts (when phosphorylated on Ser-378) with AKT1, AKT2 and AKT3 (when phosphorylated). Interacts with CIT.
    SequenceCaution:
    • Sequence=AAH63033.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH92466.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC3 Gene

Post-translational modifications for TTC3 Gene

  • Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity.
  • Ubiquitination at posLast=5353, isoforms=2, 3470, Lys488, and Lys629
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC3 Gene

Domains & Families for TTC3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TTC3: view

No data available for UniProtKB/Swiss-Prot for TTC3 Gene

Function for TTC3 Gene

Molecular function for TTC3 Gene

GENATLAS Biochemistry:
tetratricopeptide-repeat containing gene isoform 3,on the Down syndrome critical region,predominantly expressed in the central nervous system
UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of Lys-48-polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT.

Enzyme Numbers (IUBMB) for TTC3 Gene

Gene Ontology (GO) - Molecular Function for TTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 20059950
GO:0005515 protein binding IPI 20059950
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TTC3: view
genes like me logo Genes that share phenotypes with TTC3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC3 Gene

Localization for TTC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC3 Gene

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 TTC3 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 3
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 20059950
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with TTC3: view

Pathways & Interactions for TTC3 Gene

No Data Available

UniProtKB/Swiss-Prot P53804-TTC3_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for TTC3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IDA 20059950
GO:0016567 protein ubiquitination IEA --
GO:0070936 protein K48-linked ubiquitination IDA 20059950
genes like me logo Genes that share ontologies with TTC3: view

No data available for Pathways by source for TTC3 Gene

Drugs & Compounds for TTC3 Gene

No Compound Related Data Available

Transcripts for TTC3 Gene

Unigene Clusters for TTC3 Gene

Tetratricopeptide repeat domain 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - -
SP7:
SP8: - -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for TTC3 Gene

GeneLoc Exon Structure for
TTC3
ECgene alternative splicing isoforms for
TTC3

Expression for TTC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC3 Gene

Protein differential expression in normal tissues from HIPED for TTC3 Gene

This gene is overexpressed in Bone (38.3), Monocytes (13.3), Lung (8.6), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC3 Gene



Protein tissue co-expression partners for TTC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of TTC3 Gene:

TTC3

SOURCE GeneReport for Unigene cluster for TTC3 Gene:

Hs.368214

mRNA Expression by UniProt/SwissProt for TTC3 Gene:

P53804-TTC3_HUMAN
Tissue specificity: Found in all tissues examined.

Evidence on tissue expression from TISSUES for TTC3 Gene

  • Nervous system(5)
  • Intestine(4.3)
  • Lung(3.6)
  • Eye(3.5)
  • Kidney(2.8)
  • Skin(2.4)
genes like me logo Genes that share expression patterns with TTC3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC3 Gene

Orthologs for TTC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TTC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC3 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia TTC3 34 35
  • 88.06 (n)
cow
(Bos Taurus)
Mammalia TTC3 34 35
  • 86.11 (n)
mouse
(Mus musculus)
Mammalia Ttc3 34 16 35
  • 82.23 (n)
rat
(Rattus norvegicus)
Mammalia Ttc3 34
  • 82.21 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC3 35
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC3 35
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC3 34 35
  • 60.23 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 50 (a)
OneToMany
-- 35
  • 32 (a)
OneToMany
-- 35
  • 16 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc3 34
  • 52.22 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100329450 34
  • 45.6 (n)
ttc3 35
  • 30 (a)
OneToOne
Species where no ortholog for TTC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TTC3 Gene

ENSEMBL:
Gene Tree for TTC3 (if available)
TreeFam:
Gene Tree for TTC3 (if available)

Paralogs for TTC3 Gene

Paralogs for TTC3 Gene

Pseudogenes.org Pseudogenes for TTC3 Gene

genes like me logo Genes that share paralogs with TTC3: view

Variants for TTC3 Gene

Sequence variations from dbSNP and Humsavar for TTC3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
VAR_035868 A breast cancer sample
rs1000011480 -- 37,178,052(+) ATAAA(C/T)GGATC intron-variant
rs1000076582 -- 37,132,251(+) TTACA(C/T)GGCCT intron-variant
rs1000098498 -- 37,170,683(+) TCTAG(G/T)TAAGT intron-variant
rs1000108163 -- 37,185,019(+) ATGAG(A/G)GTGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC3 Gene

Variant ID Type Subtype PubMed ID
dgv70n68 CNV gain 17160897
esv2723398 CNV deletion 23290073
esv3406011 CNV insertion 20981092
esv3575389 CNV gain 25503493
nsv1066107 CNV loss 25217958
nsv1123558 CNV deletion 24896259
nsv1136634 CNV deletion 24896259
nsv1139021 CNV deletion 24896259
nsv1139022 CNV deletion 24896259
nsv1152243 CNV duplication 26484159
nsv3510 CNV insertion 18451855
nsv3511 CNV insertion 18451855
nsv3512 CNV deletion 18451855
nsv819934 CNV gain 19587683

Variation tolerance for TTC3 Gene

Residual Variation Intolerance Score: 1.46% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.11; 87.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC3 Gene

Human Gene Mutation Database (HGMD)
TTC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC3 Gene

Disorders for TTC3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TTC3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 58
  • rp58
down syndrome
  • complete trisomy 21 syndrome
chromosomal disease
  • chromosomal disorders
- elite association - COSMIC cancer census association via MalaCards
Search TTC3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TTC3

Genetic Association Database (GAD)
TTC3
Human Genome Epidemiology (HuGE) Navigator
TTC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC3
genes like me logo Genes that share disorders with TTC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTC3 Gene

Publications for TTC3 Gene

  1. Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. (PMID: 8947847) Tsukahara F. … Sakaki Y. (J. Biochem. 1996) 2 3 4 22 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. Digital quantification of human eye color highlights genetic association of three new loci. (PMID: 20463881) Liu F. … Kayser M. (PLoS Genet. 2010) 3 46 64
  4. The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt. (PMID: 20059950) Suizu F. … Noguchi M. (Dev. Cell 2009) 3 4 64
  5. The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase. (PMID: 17488780) Berto G. … Di Cunto F. (J. Cell Sci. 2007) 3 4 64

Products for TTC3 Gene

Sources for TTC3 Gene

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