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Aliases for TTC3 Gene

Aliases for TTC3 Gene

  • Tetratricopeptide Repeat Domain 3 2 3
  • 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
  • TPRD 4 6
  • E3 Ubiquitin-Protein Ligase TTC3 3
  • Protein DCRR1 4
  • EC 6.3.2.- 4
  • TPRDIII 3

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. GO annotations related to this gene include ubiquitin-protein transferase activity. An important paralog of this gene is RNF214.

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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC3 Gene

Genomics for TTC3 Gene

Regulatory Elements for TTC3 Gene

Genomic Location for TTC3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for TTC3 Gene at MOPED

Post-translational modifications for TTC3 Gene

  • Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity.
  • Ubiquitination at Lys53, Lys470, Lys488, and Lys629
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TTC3 Gene

Domains for TTC3 Gene

Gene Families for TTC3 Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for TTC3 Gene

Graphical View of Domain Structure for InterPro Entry

P53804

UniProtKB/Swiss-Prot:

TTC3_HUMAN :
  • P53804
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 4 TPR repeats.
genes like me logo Genes that share domains with TTC3: view

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 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:0016874 ligase activity IEA --
GO:0046872 metal ion binding --
genes like me logo Genes that share ontologies with TTC3: view

Phenotypes for TTC3 Gene

GenomeRNAi human phenotypes for TTC3:
genes like me logo Genes that share phenotypes with TTC3: view

Animal Model Products

CRISPR Products

miRNA for TTC3 Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for TTC3 Gene

Localization for TTC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC3 Gene COMPARTMENTS Subcellular localization image for TTC3 gene
Compartment Confidence
nucleus 5
mitochondrion 4
cytosol 2
vacuole 2
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TTC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20059950
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005773 vacuole IEA --
genes like me logo Genes that share ontologies with TTC3: view

Pathways for TTC3 Gene

SuperPathways for TTC3 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot P53804-TTC3_HUMAN

  • Pathway: Protein modification; protein ubiquitination

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:0010771 negative regulation of cell morphogenesis involved in differentiation IEA --
GO:0045665 negative regulation of neuron differentiation 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

Transcripts for TTC3 Gene

Unigene Clusters for TTC3 Gene

Tetratricopeptide repeat domain 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TTC3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for TTC3

Flow Cytometry 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 for TTC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC3 Gene

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

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.34 (n)
  • 98.77 (a)
TTC3 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC3 35
  • 86.11 (n)
  • 81.06 (a)
TTC3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC3 35
  • 88.06 (n)
  • 83.81 (a)
TTC3 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc3 35
  • 82.23 (n)
  • 77.06 (a)
Ttc3 16
Ttc3 36
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC3 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC3 36
  • 44 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc3 35
  • 82.21 (n)
  • 76.67 (a)
chicken
(Gallus gallus)
Aves TTC3 35
  • 60.23 (n)
  • 46.99 (a)
TTC3 36
  • 39 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 32 (a)
OneToMany
-- 36
  • 50 (a)
OneToMany
-- 36
  • 16 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc3 35
  • 52.22 (n)
  • 39.6 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100329450 35
  • 45.6 (n)
  • 36.07 (a)
ttc3 36
  • 30 (a)
OneToOne
Species with no ortholog for TTC3:
  • 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 MAF
rs3875 -- 37,076,004(+) ACACC(C/T)ATGAA intron-variant
rs3992 -- 37,133,669(+) TGCTG(A/G)AGCTT intron-variant
rs6579 -- 37,196,007(+) GAGCA(C/T)CTGTC reference, synonymous-codon
rs9982 -- 37,202,379(+) TTCCT(C/T)AGCAG utr-variant-3-prime
rs762139 -- 37,196,174(+) GCTAC(A/T)TTTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv3510 CNV Insertion 18451855
nsv3511 CNV Insertion 18451855
esv2723398 CNV Deletion 23290073
dgv70n68 CNV Gain 17160897
esv268913 CNV Insertion 20981092
nsv3512 CNV Loss 18451855
nsv819934 CNV Gain 19587683

Relevant External Links for TTC3 Gene

HapMap Linkage Disequilibrium report
TTC3

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

Disorders for TTC3 Gene

(1) University of Copenhagen DISEASES for TTC3 Gene

Relevant External Links for TTC3

Genetic Association Database (GAD)
TTC3
Human Genome Epidemiology (HuGE) Navigator
TTC3
genes like me logo Genes that share disorders with TTC3: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. (PMID: 8724848) Ohira M. … Ohki M. (DNA Res. 1996) 3 4
  3. Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2. (PMID: 9254009) Eki T. … Murakami Y. (DNA Seq. 1997) 3 4
  4. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PMID: 9503011) Dahmane N. … Delabar J.-M. (Genomics 1998) 3 4
  5. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 4

Products for TTC3 Gene

Sources for TTC3 Gene

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