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TTC3 Gene

protein-coding   GIFtS: 60
GCID: GC21P038445

Tetratricopeptide Repeat Domain 3

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Tetratricopeptide Repeat Domain 31 2     TPRD3 5
Tetratricopeptide Repeat Protein 32 3     Tetratricopeptide Repeat Protein 3 (TPR Repeat Protein D)11
DCRR12 3     TPRDIII2
RNF1052 3     E3 Ubiquitin-Protein Ligase TTC32
RING Finger Protein 1052 3     EC 6.3.2.-3
TPR Repeat Protein 32 3     Protein DCRR13
TPR Repeat Protein D2 3     

External Ids:    HGNC: 123931   Entrez Gene: 72672   Ensembl: ENSG000001826707   OMIM: 6022595   UniProtKB: P538043   

Export aliases for TTC3 gene to outside databases

Previous GC identifers: GC21P035035 GC21P037375 GC21P037378 GC21P037376 GC21P037367 GC21P023921


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TTC3 Gene:
TTC3 (tetratricopeptide repeat domain 3) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is RNF214.

UniProtKB/Swiss-Prot: TTC3_HUMAN, P53804
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

Gene Wiki entry for TTC3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence at NCBI GenBank:
NC_000021.8  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC3 gene promoter:
         E2F-4   E2F-3a   E2F-5   Pbx1a   RelA   E2F-2   AREB6   E2F-1   E2F   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC3 promoter sequence

   Search Chromatin IP Primers for TTC3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.2
Nature(405: 311-319) cytogenetic band:   21q22.13
TTC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC3 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P038445:   GeneLoc Nature:405,311-319
Start:
38,445,526 bp from pter       24,034,533 bp from centromere
End:
38,575,413 bp from pter 24,151,928 bp from centromere
Size:
129,888 bases 117,396 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: D84294
genomic clones: pT1212 pT1601


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TTC3_HUMAN, P53804 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase TTC3  
Size: 2025 amino acids; 229869 Da
Subunit: Interacts (when phosphorylated on Ser-378) with AKT1, AKT2 and AKT3 (when phosphorylated). Interacts with
CIT
Sequence caution: Sequence=AAH63033.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH92466.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: A8K7H7 B2RPA7 D3DSG9 D3DSH2 D3DSH3 O60767 P78476 P78477 Q569I2 Q6P578
Q9UEK4
Alternative splicing: 3 isoforms:  P53804-1   P53804-2   P53804-3   

Explore the universe of human proteins at neXtProt for TTC3: NX_P53804

Explore proteomics data for TTC3 at MOPED

Post-translational modifications: 

  • Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity1
  • Ubiquitination2 at Lys53, Lys470, Lys488, Lys629
  • Modification sites at PhosphoSitePlus

  • See TTC3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001894.1  NP_003307.3  

    ENSEMBL proteins: 
     ENSP00000403943   ENSP00000408456   ENSP00000391891   ENSP00000442875   ENSP00000381974  
     ENSP00000381981   ENSP00000346791   ENSP00000414658   ENSP00000387880   ENSP00000393681  
     ENSP00000347889  

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    Novus Biologicals TTC3 Protein
    Novus Biologicals TTC3 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TTC3

     
    Search eBioscience for Proteins for TTC3 

     
    antibodies-online proteins for TTC3 (2 products) 

     
    Search antibodies-online for peptides for TTC3

    TTC3 Antibody Products:

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    antibodies-online antibodies for TTC3 (18 products) 

    TTC3 Assay Products:

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    antibodies-online kits for TTC3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RNF: RING-type (C3HC4) zinc fingers
    TTC: Tetratricopeptide (TTC) repeat domain containing

    Selected InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD
     IPR001440 TPR_1
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry P53804

    ProtoNet protein and cluster: P53804

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: TTC3_HUMAN, P53804
    Similarity: Contains 1 RING-type zinc finger
    Similarity: Contains 4 TPR repeats


    Find genes that share domains with TTC3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TTC3_HUMAN, P53804
    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

         Genatlas biochemistry entry for TTC3:
    tetratricopeptide-repeat containing gene isoform 3,on the Down syndrome critical region,predominantly expressed in
    the central nervous system

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0046872metal ion binding ----
         
    Find genes that share ontologies with TTC3           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC3:
     Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TTC3

    miRNA
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    miRTarBase miRNAs that target TTC3:
    hsa-mir-335-5p (MIRT017693), hsa-mir-877-3p (MIRT036893), hsa-mir-130b-5p (MIRT038304)

    Block miRNA regulation of human, mouse, rat TTC3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC3 (see all 12):
    hsa-miR-3910 hsa-miR-3163 hsa-miR-224 hsa-miR-3673 hsa-miR-206 hsa-miR-1 hsa-miR-759 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidTTC3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TTC3

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    GenScript: all cDNA clones in your preferred vector (see all 2): TTC3 (NM_003316)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TTC3_HUMAN, P53804: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol2
    vacuole2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005773vacuole IEA--

    Find genes that share ontologies with TTC3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    UniProtKB/Swiss-Prot: TTC3_HUMAN, P53804
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including TTC3: 

              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for TTC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TTC3 (P538042, 3 ENSP000003467914) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBE3AQ050862, 3, ENSP000003810454MINT-8276592 I2D: score=2 STRING: ENSP00000381045
    ATF7IPQ6VMQ62, 3MINT-61903 I2D: score=3 
    AKT1P317493, ENSP000002702024I2D: score=1 STRING: ENSP00000270202
    AKT2P317513, ENSP000003758924I2D: score=1 STRING: ENSP00000375892
    AKT3Q9Y2433, ENSP000002638264I2D: score=1 STRING: ENSP00000263826
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process IDA--
    GO:0010771negative regulation of cell morphogenesis involved in differentiation IEA--
    GO:0045665negative regulation of neuron differentiation IEA--
    GO:0070936protein K48-linked ubiquitination IDA--

    Find genes that share ontologies with TTC3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTC3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TTC3 gene (2 alternative transcripts): 
    NM_001001894.1  NM_003316.3  

    Unigene Cluster for TTC3:

    Tetratricopeptide repeat domain 3
    Hs.368214  [show with all ESTs]
    Unigene Representative Sequence: D84294
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000492275 ENST00000418766(uc010gne.1) ENST00000485402 ENST00000450533
    ENST00000438055 ENST00000463216 ENST00000481605 ENST00000494243 ENST00000540756(uc011aed.1)
    ENST00000399010 ENST00000399017(uc002ywa.3) ENST00000484047 ENST00000354749(uc002ywb.3)
    ENST00000479930(uc010gnf.3) ENST00000460328 ENST00000491952 ENST00000476784(uc002ywc.3)
    ENST00000414818
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TTC3 (see all 12):
    hsa-miR-3910 hsa-miR-3163 hsa-miR-224 hsa-miR-3673 hsa-miR-206 hsa-miR-1 hsa-miR-759 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidTTC3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): TTC3 (NM_003316)
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      QuantiTect SYBR Green Assays in human, mouse, rat TTC3
      QuantiFast Probe-based Assays in human, mouse, rat TTC3

    Additional mRNA sequence: 

    AJ001866.1 AK125473.1 AK126194.1 AK126418.1 AK291992.1 AK297921.1 AK299991.1 AY523634.1 
    BC026260.1 BC047867.1 BC063033.1 BC092466.1 BC137345.1 CR936616.1 D83077.1 D83327.1 
    D84294.1 D84295.1 D84296.1 

    Selected DOTS entries (see all 47):

    DT.85104984  DT.100699441  DT.100699439  DT.91733721  DT.75181231  DT.433906  DT.91702917  DT.95366010 
    DT.91685770  DT.121137448  DT.91753108  DT.121137467  DT.91830207  DT.100699429  DT.95365967  DT.121137532 
    DT.86844911  DT.91939942  DT.99976416  DT.121137566  DT.85104986  DT.92040123  DT.121137567  DT.121137572 

    Selected AceView cDNA sequences (see all 568):

    BU688996 AI301653 AL040157 AI143256 Z44323 AI678425 NM_003316 AL044261 
    CR592376 D84295 BQ581737 AI123902 BC047867 AI655615 AA999893 AL041360 
    BE552193 BX503736 AI926505 H29282 AA004460 AI953786 CA420000 D83327 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC3 (see all 12)    About this scheme

    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:                                                                                      -     -                                                         


    ECgene alternative splicing isoforms for TTC3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTATATTT
    TTC3 Expression
    About this image


    TTC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
    TTC3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368214

    UniProtKB/Swiss-Prot: TTC3_HUMAN, P53804
    Tissue specificity: Found in all tissues examined

        Pathway & Disease-focused RT2 Profiler PCR Array including TTC3: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TTC3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc31 , 5 tetratricopeptide repeat domain 31, 5 82.23(n)1
    77.06(a)1
      16 (55.18 cM)5
    221291  NM_009441.21  NP_033467.21 
     943706185 
    chicken
    (Gallus gallus)
    Aves TTC31 tetratricopeptide repeat domain 3 60.23(n)
    46.99(a)
      418518  XM_416727.4  XP_416727.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    50(a)
    32(a)
    (see all 3)
    1 ↔ many
    1 ↔ many
    (see all 3)
    3(140949760-140958113)
    3(140899034-140932805)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttc31 tetratricopeptide repeat domain 3 52.22(n)
    39.6(a)
      100492684  XM_002941532.2  XP_002941578.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003294501 tetratricopeptide repeat domain 3-like 45.6(n)
    36.07(a)
      100329450  XM_005172579.1  XP_005172636.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC3 gene
    RNF2142  DZIP32  
    1 SIMAP similar gene for TTC3 using alignment to 10 protein entries:     TTC3_HUMAN (see all proteins):
    DKFZp686M0150

    Find genes that share paralogs with TTC3           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for TTC3
    PGOHUM00000242334 PGOHUM00000241403


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTC3 (see all 3212)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0358684
    A breast cancer sample4--see VAR_0358682 K M mis40--------
    rs339181321,2
    C--23928301(+) TTTTT-/T/TT  
            
    GCCCT
    1 -- int11NA 2
    rs114180241,2
    C--38447466(+) TTTTT-/T/TT  
            
    GCTCA
    1 -- int1 trp32NA 4
    rs81335491,2
    C,F,A,H--38447489(+) AGCATC/TATATT 1 -- int19Minor allele frequency- T:0.39NA WA EA 370
    rs1422582581,2
    C--38447584(+) GAATAG/TACCAT 1 -- int10--------
    rs676786581,2
    C,F--38447606(+) CATTCC/TCCTGT 1 -- int15Minor allele frequency- T:0.15NA WA EA 362
    rs1810410411,2
    --38447633(+) TGTTTC/TAGTTT 1 -- int10--------
    rs1176706741,2
    C,F--38447669(+) TAAATA/GTCTTT 1 -- int11Minor allele frequency- G:0.03NA 120
    rs1508552341,2
    --38447688(+) CTGCTA/TGTGCA 1 -- int10--------
    rs1393251181,2
    --38447695(+) TGCACA/GCATTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTC3 (38445526 - 38575413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for TTC3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723398CNV Deletion23290073
    esv268913CNV Insertion20981092
    nsv3511CNV Insertion18451855
    nsv3510CNV Insertion18451855
    nsv3512CNV Loss18451855
    dgv70n68CNV Gain17160897
    nsv819934CNV Gain19587683

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC3
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602259    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for TTC3:
    Down syndrome

    Find genes that share disorders with TTC3           About GenesLikeMe

    Genetic Association Database (GAD): TTC3
    Human Genome Epidemiology (HuGE) Navigator: TTC3 (1 document)

    Export disorders for TTC3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TTC3 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with TTC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2. (PubMed id 8947847)1, 2, 3, 9 Tsukahara F.... Sakaki Y. (J. Biochem. 1996)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Digital quantification of human eye color highlights genetic association of three new loci. (PubMed id 20463881)1, 4 Liu F....Kayser M. (PLoS Genet. 2010)
    4. The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt. (PubMed id 20059950)1, 2 Suizu F.... Noguchi M. (Dev. Cell 2009)
    5. The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase. (PubMed id 17488780)1, 2 Berto G.... Di Cunto F. (J. Cell Sci. 2007)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M.... Yaspo M.-L. (Nature 2000)
    8. Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome. (PubMed id 9503011)1, 2 Dahmane N.... Delabar J.-M. (Genomics 1998)
    9. Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2. (PubMed id 9254009)1, 2 Eki T.... Murakami Y. (DNA Seq. 1997)
    10. Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21. (PubMed id 8724848)1, 2 Ohira M.... Ohki M. (DNA Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7267 HGNC: 12393 AceView: TTC3 Ensembl:ENSG00000182670 euGenes: HUgn7267
    ECgene: TTC3 H-InvDB: TTC3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TTC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TTC3 gene:
    Search GeneIP for patents involving TTC3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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