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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TTC1 Gene

protein-coding   GIFtS: 52
GCID: GC05P159436

tetratricopeptide repeat domain 1

 Explore 2 diseases affiliated with
TTC1 via our new
 Human Malady Compendium 
Biological research products
for TTC1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Tetratricopeptide Repeat Domain 11 2
TPR11 2 3 5
TPR Repeat Protein 12 3
Tetratricopeptide Repeat Protein 12

External Ids:    HGNC: 123911   Entrez Gene: 72652   Ensembl: ENSG000001133127   OMIM: 6019635   UniProtKB: Q996143   

Export aliases for TTC1 gene to outside databases

Previous GC identifers: GC05P159553 GC05P159945 GC05P159371 GC05P159417 GC05P159368 GC05P154530


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Gene Wiki entry for TTC1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC1 gene promoter:
         AREB6   SRF   AP-1   NRF-2   SRF (504 AA)   FOXO4   POU6F1 (c2)   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC1


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

Entrez Gene cytogenetic band: 5q33.3   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q32-q33.2

TTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P159436:  view genomic region     (about GC identifiers)

Start:
159,436,120 bp from pter      End:
159,492,550 bp from pter
Size:
56,431 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TTC1_HUMAN, Q99614 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 1  
Size: 292 amino acids; 33526 Da
Subunit: Interacts with the GAP domain of NF1
Secondary accessions: B2RCT2 D3DQJ8 Q9BVT3

Explore the universe of human proteins at neXtProt for TTC1: NX_Q99614

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99614

  • TTC1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003305.1  
    ENSEMBL proteins: 
     ENSP00000231238   ENSP00000429225   ENSP00000428613  

    Human Recombinant Protein Products: 
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    Novus Biologicals TTC1 Proteins
    Novus Biologicals TTC1 Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for TTC1
    Uscn Proteins for TTC1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005778peroxisomal membrane IDA--


    TTC1 for ontologies           About GeneDecksing



    TTC1 Antibody Products: 
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    Uscn Antibodies for TTC1
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    Uscn ELISAs and CLIAs for TTC1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TTC1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q99614

    ProtoNet protein and cluster: Q99614

    UniProtKB/Swiss-Prot: TTC1_HUMAN, Q99614
    Similarity: Contains 3 TPR repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:
         Genatlas biochemistry entry for TTC1:
    tetratricopeptide-repeat containing gene 1,ubiquitously expressed,predominantly expressed in the brain

    miRNA
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    hsa-miR-1321 hsa-miR-556-3p hsa-miR-1207-5p hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidTTC1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTC1 (see all 7)
    OriGene shRNA RFP: TTC1
    OriGene siRNA: TTC1
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC1

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI14985359
    GO:0051082unfolded protein binding NAS8836031


    TTC1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for TTC1:
     Increased G2M DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TTC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/29 Interacting proteins for TTC1 (Q996142, 3 ENSP000002312384) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACY1Q031542, 3MINT-66237 I2D: score=5 
    GNASQ5JWF23, ENSP000003601414I2D: score=5 I2D: score=1 I2D: score=2 I2D: score=1 STRING: ENSP00000360141
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    GNA15P306793, ENSP000002629584I2D: score=5 STRING: ENSP00000262958
    GNAQP501483, ENSP000002865484I2D: score=5 STRING: ENSP00000286548
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding NAS8836031


    TTC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TTC1
    Search CenterWatch for drugs/clinical trials and news about TTC1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTC1 gene: 
    NM_003314.1  

    Unigene Cluster for TTC1:

    Tetratricopeptide repeat domain 1
    Hs.519718  [show with all ESTs]
    Unigene Representative Sequence: AK128840
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000231238(uc003lxu.3) ENST00000522793 ENST00000522073 ENST00000520274
    ENST00000518560

    miRNA
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    4 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC1:
    hsa-miR-1321 hsa-miR-556-3p hsa-miR-1207-5p hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidTTC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TTC1 (see all 7)
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    OriGene siRNA: TTC1
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TTC1 (NM_003314)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC1

    Additional cDNA sequence: 

    AK128840.1 AK222641.1 AK222984.1 AK315262.1 BC000942.3 U46570.1 

    14 DOTS entries:

    DT.100703382  DT.446779  DT.95276381  DT.40248412  DT.306372  DT.120849335  DT.120849299  DT.87016230 
    DT.100841605  DT.91737576  DT.100841602  DT.120849304  DT.92438061  DT.87046581 

    24/390 AceView cDNA sequences (see all 390):

    CA944598 BU625562 CA442591 AA642000 CB141835 BQ004892 CA437501 AV709435 
    AA159905 T16296 CR625510 CK826224 BQ232086 AA356382 BU173120 BM753892 
    CA441202 H53645 CA427834 BQ575556 BM975552 AI160222 AA283938 BI871514 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TTC1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                                                      
    SP2:                                                      


    ECgene alternative splicing isoforms for TTC1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TTC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTGATGACG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TTC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC1

    SOURCE GeneReport for Unigene cluster: Hs.519718
        SABiosciences Custom PCR Arrays for TTC1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC1

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TTC1 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc11 , 5 tetratricopeptide repeat domain 11, 5 84.99(n)1
    83.85(a)1
      11 (25.81 cM)5
    668271  NM_133795.11  NP_598556.11 
     437295125 
    chicken
    (Gallus gallus)
    Aves TTC11 tetratricopeptide repeat domain 1 72.22(n)
    69.15(a)
      416152  XM_414484.3  XP_414484.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTC16
    --
    63(a)
    1 ↔ 1
    GL343286.1(1063348-1075565)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.150012 Xenopus laevis transcribed sequence with weak similarity more 73.25(n)    BX843124.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc11 tetratricopeptide repeat domain 1 61.47(n)
    60.84(a)
      492510  NM_001007382.1  NP_001007383.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG148941 , 3 CG148941 45(a)3
    54.18(n)1
    51.49(a)1
      89C63
    419931  NM_142286.31  NP_650543.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C34B2.51 Protein C34B2.5 49.53(n)
    36.16(a)
      172965  NM_060394.3  NP_492795.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G304801 tetratricopeptide repeat domain-containing protein 48.74(n)
    40(a)
      829171  NM_119194.5  NP_194777.3 
    rice
    (Oryza sativa)
    Liliopsida Os10g04869001 hypothetical protein 48.37(n)
    43.26(a)
      4348950  NM_001071439.1  NP_001064904.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC1 gene
    RPAP32  TOMM342  STIP12  SPAG12  

    TTC1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/906 NCBI SNPs in TTC1 are shown (see all 906    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405208461,2
    --159434389(+) AAAATA/TAAAAC 1 -- us2k10--------
    rs748131391,2
    C,F,--159434500(+) ACAGCA/GTGCGG 1 -- us2k11Minor allele frequency- G:0.17WA 118
    rs1504252251,2
    --159434507(+) GCGGTA/GCTTAA 1 -- us2k10--------
    rs1381660601,2
    --159434588(+) GAGACC/TGTAAC 1 -- us2k10--------
    rs764088681,2
    F,--159434589(+) AGACCG/ATAACT 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs767432631,2
    C--159434618(+) TTACTA/TATTTA 1 -- us2k10--------
    rs746796861,2
    C--159434619(+) TACTTA/CTTTAT 1 -- us2k10--------
    rs758473751,2
    C--159434621(+) CTTATG/TTATTT 1 -- us2k10--------
    rs802958261,2
    C--159434623(+) TATTTA/TTTTAG 1 -- us2k10--------
    rs126596561,2
    C,H--159434671(+) AATTAA/CCAGGG 1 -- us2k14Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for TTC1 (159436120 - 159492550 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTC1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TTC1

    (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.)
    About This Section

    TTC1 for disorders           About GeneDecksing

    OMIM gene information: 601963    OMIM disorders: --

    2 diseases for TTC1:    About MalaCards
    pancreatic cancer    pancreatitis


    Export disorders for TTC1 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)
    About This Section

    PubMed articles for TTC1 gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with TTC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of two novel tetratricopeptide repeat-containing genes. (PubMed id 8836031)1, 2, 3, 9 Murthy A.E.... Gusella J.F. (1996)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Cooperative interaction of Hsp40 and TPR1 with Hsp70 reverses Hsp70-HspBp1 complex formation. (PubMed id 14503850)1, 9 Oh W.K. and Song J. (2003)
    4. Human blue-light photoreceptor hCRY2 specifically interacts with protein serine/threonine phosphatase 5 and modulates its activity. (PubMed id 9383998)1, 9 Zhao S. and Sancar A. (1997)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Activation of Ras-dependent signaling pathways by G(14 ) -coupled receptors requires the adaptor protein TPR1. (PubMed id 22711498)1 Kwan D.H....Wong Y.H. (2012)
    7. Structural and functional insights into the role of th e N-terminal Mps1 TPR domain in the SAC (spindle assembly checkpoint). (PubMed id 23067341)1 Thebault P....Bolanos-Garcia V.M. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7265 HGNC: 12391 AceView: TTC1 Ensembl:ENSG00000113312 euGenes: HUgn7265
    ECgene: TTC1 H-InvDB: TTC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TTC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TTC1 gene:
    Search GeneIP for patents involving TTC1

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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