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

TTC17 Gene

protein-coding   GIFtS: 48
GCID: GC11P043380

Tetratricopeptide Repeat Domain 17

  Search for TTC17
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Tetratricopeptide Repeat Domain 171 2
TPR Repeat Protein 172 3
Tetratricopeptide Repeat Protein 172

External Ids:    HGNC: 255961   Entrez Gene: 557612   Ensembl: ENSG000000528417   UniProtKB: Q96AE73   

Export aliases for TTC17 gene to outside databases

Previous GC identifers: GC11P043344 GC11P043337 GC11P043090


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

GeneCards Summary for TTC17 Gene: 
TTC17 (tetratricopeptide repeat domain 17) is a protein-coding 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC17 gene promoter:
         AML1a   MEF-2   CUTL1   Tal-1beta   E47   MEF-2A   IRF-7A   aMEF-2   ITF-2   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC17 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC17


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

Entrez Gene cytogenetic band: 11p11.2   Ensembl cytogenetic band:  11p12   HGNC cytogenetic band: 11p11.2

TTC17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC17 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P043380:  view genomic region     (about GC identifiers)

Start:
43,380,435 bp from pter      End:
43,516,483 bp from pter
Size:
136,049 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TTC17_HUMAN, Q96AE7 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 17  
Size: 1141 amino acids; 129558 Da

Explore the universe of human proteins at neXtProt for TTC17: NX_Q96AE7

Explore proteomics data for TTC17 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96AE7

  • TTC17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TTC17 Protein Expression
    REFSEQ proteins: NP_060729.2  
    ENSEMBL proteins: 
     ENSP00000299240   ENSP00000039989   ENSP00000432900   ENSP00000473320   ENSP00000407314  

    Human Recombinant Protein Products for TTC17: 
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    Cloud-Clone Corp. CLIAs for TTC17


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

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

    Graphical View of Domain Structure for InterPro Entry Q96AE7

    ProtoNet protein and cluster: Q96AE7

    UniProtKB/Swiss-Prot: TTC17_HUMAN, Q96AE7
    Similarity: Contains 6 TPR repeats


    TTC17 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    TTC17 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC17:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TTC17 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TTC17

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC17


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTC17

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/7 Interacting proteins for TTC17 (Q96AE73 ENSP000000399894) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR1Q047713, ENSP000002636404I2D: score=3 STRING: ENSP00000263640
    SMURF1Q9HCE73, ENSP000003546214I2D: score=2 STRING: ENSP00000354621
    BMPR1BO002383, ENSP000002645684I2D: score=3 STRING: ENSP00000264568
    SRPK1Q96SB43I2D: score=4 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 TTC17

    Search CenterWatch for drugs/clinical trials and news about TTC17

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TTC17 gene: 
    NM_018259.5  

    Unigene Cluster for TTC17:

    Tetratricopeptide repeat domain 17
    Hs.191186  [show with all ESTs]
    Unigene Representative Sequence: NM_018259
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000299240(uc001mxh.3) ENST00000039989(uc001mxi.3 uc010rfj.2)
    ENST00000534347 ENST00000530469 ENST00000526774(uc001mxj.3) ENST00000524936
    ENST00000525029 ENST00000530483 ENST00000534417 ENST00000525135 ENST00000525543(uc001mxl.3)
    ENST00000533554 ENST00000418561 ENST00000529140 ENST00000533072
    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC17 (see all 16):
    hsa-miR-1178 hsa-miR-3671 hsa-miR-455-5p hsa-miR-607 hsa-miR-520d-5p hsa-miR-622 hsa-miR-938 hsa-miR-16-1*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC17
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC17

    Additional mRNA sequence: 

    AF161431.1 AK001540.1 AK001752.1 AK021517.1 AK023161.1 AK026217.1 AK074253.1 AK124380.1 
    BC017238.2 BC033000.1 BC041893.1 BX640972.1 

    24/29 DOTS entries (see all 29):

    DT.314837  DT.100693546  DT.95174090  DT.99984506  DT.97813235  DT.97862623  DT.100730936  DT.92444419 
    DT.95104569  DT.100038473  DT.75186856  DT.120736163  DT.415879  DT.91687408  DT.92444406  DT.40227571 
    DT.91667501  DT.100828007  DT.120736220  DT.40107775  DT.92444422  DT.95174093  DT.100659422  DT.102844734 

    24/419 AceView cDNA sequences (see all 419):

    BM055356 BU735793 AI347598 CB529313 BM672584 AU131256 CB135506 W73671 
    AI218938 BX640972 BC041893 AI949723 AA379085 AI092687 T55105 CD365666 
    CB145293 BC033000 W90563 AI581389 BE504107 AI435613 AI393252 CA947184 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TTC17 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18a · 18b ·
    SP1:        -                                         -     -                                                                                         -     -   
    SP2:        -                                         -     -                                                                                                   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 18c ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b
    SP1:  -                 -     -     -                 -                 -           -                     
    SP2:                    -                                                                                 
    SP3:                                                                                                      
    SP4:                                                                    -           -                     
    SP5:                    -     -                                                                           


    ECgene alternative splicing isoforms for TTC17

    (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

    TTC17 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCTGTGTT
    TTC17 Expression
    About this image


    See TTC17 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC17

    SOURCE GeneReport for Unigene cluster: Hs.191186
        SABiosciences Custom PCR Arrays for TTC17
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    In Situ
    Assay Products:
     

     
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    (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 animals.

    Orthologs for TTC17 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc171 , 5 tetratricopeptide repeat domain 171, 5 88.96(n)1
    95.09(a)1
      2 (51.69 cM)5
    745691  NM_183106.21  NP_898929.21 
     943007675 
    chicken
    (Gallus gallus)
    Aves TTC171 tetratricopeptide repeat domain 17 77.23(n)
    80.73(a)
      423167  XM_421093.3  XP_421093.3 
    lizard
    (Anolis carolinensis)
    Reptilia TTC176
    tetratricopeptide repeat domain 17
    73(a)
    1 ↔ 1
    1(50711129-50797237)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.171742 Transcribed sequence with weak similarity to protein more 77.78(n)    BX750160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc171 tetratricopeptide repeat domain 17 65.03(n)
    64.63(a)
      569538  XM_692933.4  XP_698025.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG114361 CG11436 39.38(n)
    22.92(a)
      31386  NM_131941.3  NP_572169.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T19A5.11 Protein T19A5.1 42.4(n)
    29.6(a)
      179275  NM_072911.3  NP_505312.1 


    ENSEMBL Gene Tree for TTC17 (if available)
    TreeFam Gene Tree for TTC17 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC17 gene
    1 SIMAP similar gene for TTC17 using alignment to 6 protein entries:     TTC17_HUMAN (see all proteins):
    DKFZp686D20222

    TTC17 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) 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

    10/2592 SNPs in TTC17 are shown (see all 2592)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1488226561,2
    C--43378455(+) TGATCC/TTGGCC 1 -- us2k10--------
    rs735474001,2
    C,F--43378472(+) CTTAAG/CTAGCC 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1848237501,2
    --43378497(+) TGTGAC/TGATTA 1 -- us2k10--------
    rs20360641,2
    C,A,H--43378533(-) AATACG/ATACTG 1 -- us2k16Minor allele frequency- A:0.00MN NS EA NA 722
    rs728989941,2
    C,F--43378570(+) ATGATG/ATCAGC 1 -- us2k13Minor allele frequency- A:0.08NA WA 240
    rs1475769461,2
    --43378617(+) AAAAAG/TAAGAT 1 -- us2k10--------
    rs1896865981,2
    C--43378744(+) TTTTCA/GTTTCT 1 -- us2k10--------
    rs1420904561,2
    --43378763(+) ATTCTC/TGCTCT 1 -- us2k10--------
    rs1174084151,2
    C,F--43378828(+) CCCGTG/ATTCAA 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs613686231,2
    C,F--43378872(+) AATTAT/CAGGTG 1 -- us2k12Minor allele frequency- C:0.33WA CSA 3

    HapMap Linkage Disequilibrium report for TTC17 (43380435 - 43516483 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TTC17:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2678898CNV Deletion23128226
    nsv7753CNV Insertion18451855
    nsv519819CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TTC17
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC17

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TTC17 for disorders           About MalaCards

    TTC17 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TTC17
    Human Genome Epidemiology (HuGE) Navigator: TTC17 (1 document)

    Export disorders for TTC17 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 TTC17 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTC17)
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    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    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. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    6. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. (PubMed id 18463370)4 Maris J.M....Hakonarson H. (2008)
    7. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    8. High-throughput mapping of a dynamic signaling network in mammalian cells. (PubMed id 15761153)1 Barrios-Rodiles M....Wrana J.L. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    10. A second-generation genomewide screen for asthma-susceptibility alleles in a founder population. (PubMed id 11022011)4 Ober C....Cox N.J. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55761 HGNC: 25596 AceView: TTC17 Ensembl:ENSG00000052841 euGenes: HUgn55761
    ECgene: TTC17 H-InvDB: TTC17

    (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 TTC17 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 TTC17 gene:
    Search GeneIP for patents involving TTC17

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



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