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TTC9C Gene

protein-coding   GIFtS: 47
GCID: GC11P062495

Tetratricopeptide Repeat Domain 9C

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetratricopeptide Repeat Domain 9C1 2
TPR Repeat Protein 9C2 3
Tetratricopeptide Repeat Protein 9C2

External Ids:    HGNC: 284321   Entrez Gene: 2832372   Ensembl: ENSG000001622227   UniProtKB: Q8N5M43   

Export aliases for TTC9C gene to outside databases

Previous GC identifers: GC11P062254 GC11P058825


(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 TTC9C Gene:
TTC9C (tetratricopeptide repeat domain 9C) is a protein-coding gene. Diseases associated with TTC9C include schizophrenia. An important paralog of this gene is TTC9B.


(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)
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RefSeq DNA sequence:
NC_000011.10  NT_167190.2  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TTC9C gene promoter:
         GR   E2F-4   E2F-3a   E2F-5   E2F-2   GATA-1   Max   E2F   E2F-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC9C promoter sequence
   Search Chromatin IP Primers for TTC9C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TTC9C


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

Entrez Gene cytogenetic band: 11q12.3   Ensembl cytogenetic band:  11q12.3   HGNC cytogenetic band: 11q12.3

TTC9C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC9C gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P062495:  view genomic region     (about GC identifiers)

Start:
62,495,541 bp from pter      End:
62,507,765 bp from pter
Size:
12,225 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TTC9C_HUMAN, Q8N5M4 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 9C  
Size: 171 amino acids; 20013 Da

Explore the universe of human proteins at neXtProt for TTC9C: NX_Q8N5M4

Explore proteomics data for TTC9C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys12
  • Modification sites at PhosphoSitePlus

  • See TTC9C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_776171.1  
    ENSEMBL proteins: 
     ENSP00000435282   ENSP00000294161   ENSP00000325266   ENSP00000434340   ENSP00000434137  
     ENSP00000444031  

    TTC9C Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTC9C

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    Search for Antibodies for TTC9C at Abcam
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    LSBio Antibodies in human, mouse, rat for TTC9C

    TTC9C Assay Products:

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    Cloud-Clone Corp. CLIAs for TTC9C


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

    5 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR023566 PPIase_FKBP
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q8N5M4

    ProtoNet protein and cluster: Q8N5M4

    UniProtKB/Swiss-Prot: TTC9C_HUMAN, Q8N5M4
    Similarity: Belongs to the TTC9 family
    Similarity: Contains 3 TPR repeats


    TTC9C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TTC9C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC9C:
     Increased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TTC9C
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TTC9C
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TTC9C

    miRNA
    Products:
        
    miRTarBase miRNAs that target TTC9C:
    hsa-let-7b-5p (MIRT001583)

    Block miRNA regulation of human, mouse, rat TTC9C using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate TTC9C:
    hsa-miR-24 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidTTC9C 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TTC9C
    Predesigned siRNA for gene silencing in human, mouse, rat TTC9C

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for TTC9C

    Clone
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    OriGene clones in human, mouse for TTC9C (see all 7)
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    GenScript: all cDNA clones in your preferred vector: TTC9C (NM_173810)
    Sino Biological Human cDNA Clone for TTC9C
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC9C

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TTC9C 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC9C


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC9C
    Interactions:

        Search GeneGlobe Interaction Network for TTC9C

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for TTC9C (Q8N5M43 ENSP000003252664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079003, ENSP000003351534I2D: score=1 STRING: ENSP00000335153
    FBXO25ENSP000002763264STRING: ENSP00000276326
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (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 TTC9C



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TTC9C gene: 
    NM_173810.3  

    Unigene Cluster for TTC9C:

    Tetratricopeptide repeat domain 9C
    Hs.31704  [show with all ESTs]
    Unigene Representative Sequence: AF289605
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530625 ENST00000294161 ENST00000316461(uc001nuy.3) ENST00000532583
    ENST00000532276 ENST00000601045 ENST00000513247(uc001nux.3)
    miRNA
    Products:
         
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    2 qRT-PCR Assays for microRNAs that regulate TTC9C:
    hsa-miR-24 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidTTC9C 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TTC9C
    Predesigned siRNA for gene silencing in human, mouse, rat TTC9C
    Clone
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    OriGene clones in human, mouse for TTC9C (see all 7)
    OriGene ORF clones in mouse, rat for TTC9C
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TTC9C (NM_173810)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC9C
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC9C
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TTC9C
    OriGene qSTAR qPCR primer pairs in human, mouse for TTC9C
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC9C
      QuantiTect SYBR Green Assays in human, mouse, rat TTC9C
      QuantiFast Probe-based Assays in human, mouse, rat TTC9C

    Additional mRNA sequence: 

    AF289605.1 AF451992.1 AF451993.1 BC032123.2 BC053665.1 

    8 DOTS entries:

    DT.215251  DT.92422260  DT.99955640  DT.101982061  DT.92422263  DT.102841780  DT.102841759  DT.95368600 

    Selected AceView cDNA sequences (see all 136):

    BM845514 BM713659 BC032123 AA677016 AW407918 N74876 AA724597 BM833166 
    AI424641 NM_173810 BE294980 W93931 BG720745 BU844888 AA236067 BU553286 
    AI911567 BE296078 AA687870 AA461618 AV709319 W19289 AF451993 AF451992 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TTC9C (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:                                                                                    
    SP2:                                            -     -                                 
    SP3:                                                  -                                 
    SP4:        -     -     -     -     -                 -                                 
    SP5:                                                  -                                 


    ECgene alternative splicing isoforms for TTC9C

    (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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    TTC9C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTGTTGC
    TTC9C Expression
    About this image

    TTC9C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC9C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31704
        Custom PCR Arrays for TTC9C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC9C

    (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 TTC9C gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc9c1 , 5 tetratricopeptide repeat domain 9C1, 5 88.3(n)1
    95.91(a)1
      19 (5.67 cM)5
    703871  NM_027412.31  NP_081688.21 
     88090755 
    lizard
    (Anolis carolinensis)
    Reptilia TTC9C6
    tetratricopeptide repeat domain 9C
    66(a)
    1 ↔ 1
    GL343928.1(67128-76309)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ttc9c1 tetratricopeptide repeat domain 9C 57.12(n)
    54.97(a)
      100124897  NM_001102847.1  NP_001096317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc9c1 tetratricopeptide repeat domain 9C 58.43(n)
    51.76(a)
      393235  NM_200265.1  NP_956559.1 


    ENSEMBL Gene Tree for TTC9C (if available)
    TreeFam Gene Tree for TTC9C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TTC9C gene
    TTC9B2  TTC92  
    2 SIMAP similar genes for TTC9C using alignment to 5 protein entries:     TTC9C_HUMAN (see all proteins):
    TTC9B    TTC9

    TTC9C for paralogs           About GeneDecksing



    (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 TTC9C (see all 209)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007473331,2
    --62496880(+) TTTAT-/TTTA  
            
    TTTTT
    1 -- int10--------
    rs28456721,2
    C--62496923(+) TGGAGC/TGCACT 1 -- int10--------
    rs1811470621,2
    C--62497018(+) GGCGCC/TCGCCA 1 -- int10--------
    rs793295061,2
    C--62497041(+) AGCTAA/TTTTTT 1 -- int10--------
    rs1853141911,2
    --62497091(+) TGCCCA/CGGTTG 1 -- int10--------
    rs1888800001,2
    --62497256(+) TTGGTC/TAGGCT 1 -- int10--------
    rs1820639001,2
    --62497397(+) TAGGTA/GATTTT 1 -- int10--------
    rs1159828811,2
    F--62497412(+) GCTATA/GGGGAA 1 -- int11Minor allele frequency- G:0.01WA 118
    rs6587451,2
    C,F,A--62497675(-) AGCTAT/CTCCAG 1 -- int16Minor allele frequency- C:0.36WA NA CSA EA 363
    rs1400564651,2
    --62497694(+) GGCGCA/GTGCCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for TTC9C (62495541 - 62507765 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TTC9C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv348CNV Loss18451855
    nsv897623CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC9C
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC9C

    (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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    1 disease for TTC9C:    
    About MalaCards
    schizophrenia


    TTC9C for disorders           About GeneDecksing


    Export disorders for TTC9C 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 TTC9C gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with TTC9C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    2. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    3. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    9. A proteomic investigation of ligand-dependent HSP90 complexes reveals CHORDC1 as a novel ADP-dependent HSP90-interacting protein. (PubMed id 19875381)1 Gano J.J. and Simon J.A. (Mol. Cell. Proteomics 2010)
    10. Identification of FBXO25-interacting proteins using an integrated proteomics approach. (PubMed id 20473970)1 Teixeira F.R.... Gomes M.D. (Proteomics 2010)

    (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: 283237 HGNC: 28432 AceView: MGC29649 Ensembl:ENSG00000162222 euGenes: HUgn283237
    ECgene: TTC9C H-InvDB: TTC9C

    (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)
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    NameDescription
    PharmGKB entry for TTC9C 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 TTC9C gene:
    Search GeneIP for patents involving TTC9C

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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