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

TTC27 Gene

protein-coding   GIFtS: 45
GCID: GC02P032853

tetratricopeptide repeat domain 27

 Explore 2 diseases affiliated with
TTC27 via our new
 Human Malady Compendium 
Biological research products
for TTC27
    

(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 271 2
TPR Repeat Protein 272 3
FLJ202721
Tetratricopeptide Repeat Protein 272

External Ids:    HGNC: 259861   Entrez Gene: 556222   Ensembl: ENSG000000186997   UniProtKB: Q6P3X33   

Export aliases for TTC27 gene to outside databases

Previous GC identifers: GC02P032706 GC02P032592


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

  --

(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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC27 gene promoter:
         TBP   Pax-5   Meis-1b   IRF-2   SRY   FAC1   TFIID   SEF-1 (1)   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC27 promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC27

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC27


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

Entrez Gene cytogenetic band: 2p22.3   Ensembl cytogenetic band:  2p22.3   HGNC cytogenetic band: 2p22.3

TTC27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC27 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P032853:  view genomic region     (about GC identifiers)

Start:
32,853,087 bp from pter      End:
33,046,118 bp from pter
Size:
193,032 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: TTC27_HUMAN, Q6P3X3 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 27  
Size: 843 amino acids; 96632 Da
Sequence caution: Sequence=BAA91048.1; Type=Erroneous initiation; Sequence=BAA91315.1; Type=Erroneous initiation;
Secondary accessions: A6NKJ0 Q96SS5 Q9BVF1 Q9NWR4 Q9NXG4

Explore the universe of human proteins at neXtProt for TTC27: NX_Q6P3X3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6P3X3

  • TTC27 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180438.1  NP_060205.3  

    ENSEMBL proteins: 
     ENSP00000393327   ENSP00000313953   ENSP00000392883   ENSP00000409230   ENSP00000410642  
     ENSP00000398820  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: TTC27
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    Novus Biologicals TTC27 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TTC27

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--


    TTC27 for ontologies           About GeneDecksing



    TTC27 Antibody Products: 
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    Uscn Antibodies for TTC27
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    Uscn ELISAs and CLIAs for TTC27


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

    TTC27 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 Q6P3X3

    ProtoNet protein and cluster: Q6P3X3

    UniProtKB/Swiss-Prot: TTC27_HUMAN, Q6P3X3
    Similarity: Belongs to the TTC27 family
    Similarity: Contains 3 HAT repeats
    Similarity: Contains 7 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

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: TTC27
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TTC27
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 TTC27 (see all 7)
    OriGene shRNA RFP: TTC27
    OriGene siRNA: TTC27
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TTC27 (see all 5)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): TTC27 (NM_017735)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC27 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC27

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    TTC27 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for TTC27:
     Decreased Wnt reporter activit  Increased gamma-H2AX phosphory 


    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TTC27

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/54 Interacting proteins for TTC27 (Q6P3X33 ENSP000003139534) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACVR1Q047713, ENSP000002636404I2D: score=3 STRING: ENSP00000263640
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    PTP4A3O753653, ENSP000003322744I2D: score=2 STRING: ENSP00000332274
    BRF2Q9HAW03, ENSP000002206594I2D: score=1 STRING: ENSP00000220659
    ENSG00000258947Q135093I2D: score=1 
    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:0008150biological_process ND--


    TTC27 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 TTC27
    Search CenterWatch for drugs/clinical trials and news about TTC27 

    (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 TTC27 gene (2 alternative transcripts): 
    NM_001193509.1  NM_017735.4  

    Unigene Cluster for TTC27:

    Tetratricopeptide repeat domain 27
    Hs.468125  [show with all ESTs]
    Unigene Representative Sequence: NM_017735
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448773 ENST00000317907(uc002rom.3 uc010ymx.2) ENST00000454690
    ENST00000438654 ENST00000433416 ENST00000428527

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TTC27
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    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 TTC27 (see all 7)
    OriGene shRNA RFP: TTC27
    OriGene siRNA: TTC27
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TTC27
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TTC27 (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTC27 (see all 2)
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    GenScript: all cDNA clones in your preferred vector (see all 2): TTC27 (NM_017735)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC27
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TTC27

    Additional cDNA sequence: 

    AK000279.1 AK000665.1 AK027570.1 AK225295.1 AK299196.1 BC001248.1 BC063791.1 

    6 DOTS entries:

    DT.452341  DT.92433731  DT.97770220  DT.91659224  DT.102832169  DT.97845350 

    24/173 AceView cDNA sequences (see all 173):

    AA633525 BU543355 BM784203 BM845164 BM792833 BM720851 AA452310 BQ003621 
    BG288539 AI589083 BE221980 BU618772 CK724868 CA415645 AI078055 BM742838 
    BM983327 CB145725 BC001248 BQ900208 BE328252 AW150894 BU619527 BM839861 

    GeneLoc Exon Structure


    (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

    TTC27 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGCCATAAA

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

    About this image
    See TTC27 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC27

    SOURCE GeneReport for Unigene cluster: Hs.468125
        SABiosciences Custom PCR Arrays for TTC27
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TTC27
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC27

    (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 TTC27 gene from 10/31 species (see all 31)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc271 , 5 tetratricopeptide repeat domain 271, 5 84.22(n)1
    84.58(a)1
      17 (45.64 cM)5
    741961  NM_152817.41  NP_690030.31 
     747177505 
    chicken
    (Gallus gallus)
    Aves TTC271 tetratricopeptide repeat domain 27 74.38(n)
    73.99(a)
      421462  NM_001012567.1  NP_001012585.1 
    lizard
    (Anolis carolinensis)
    Reptilia TTC276
    --
    71(a)
    1 ↔ 1
    1(231728613-231817509)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244702 Xenopus laevis transcribed sequence with weak similarity more 76.44(n)    CB206451.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ttc271 tetratricopeptide repeat domain 27 59.46(n)
    59.66(a)
      317640  NM_173285.2  NP_775392.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG52901 CG5290 42.65(n)
    31.74(a)
      39998  NM_140769.2  NP_649026.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T20B12.11 Protein T20B12.1 46.92(n)
    36.33(a)
      176055  NM_066235.4  NP_498636.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EMW1(YNL313C)4
    EMW11
    Essential conserved protein with a role in maintaining more4
    Emw1p1
    42.2(n)1
    26.05(a)1
      14(48022-45308)4
    8554031, 4  NP_014086.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G371306
    AT5G172706
    tetratricopeptide repeat-containing protein
    22(a)
    22(a)
    many → 1
    many → 1
    5(14681378-14686684)
    5(5679991-5685597)
    rice
    (Oryza sativa)
    Liliopsida --
    tetratricopeptide repeat domain containing protein...
    19(a)
    1 ↔ 1
    7(15767899-15786364)


    ENSEMBL Gene Tree for TTC27 (if available)
    TreeFam Gene Tree for TTC27 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/128 NCBI SNPs in TTC27 are shown (see all 128    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753902091,2
    C,--32598103(+) TAAACC/TATGTT 2 -- int12Minor allele frequency- T:0.10WA 120
    rs1999048781,2
    C--32598136(+) ATATTG/TTAGAC 2 -- int10--------
    rs612810871,2
    C,F,--32598464(+) AGAAAT/ATTTTT 2 -- int13Minor allele frequency- A:0.05WA NA 122
    rs779836331,2
    F,--32598860(+) AAAGTA/TCTAAG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs755143471,2
    F,--32599012(+) GGTTGT/CATCAC 2 -- int11Minor allele frequency- C:0.10WA 118
    rs1491787761,2
    --32853844(+) TATTTA/TTTGAG 1 -- int10--------
    rs1995584261,2
    --32858483(+) ATTTC-/TTTTTT 1 -- us2k10--------
    rs1858518731,2
    --32858493(+) TTTTTA/TAAGAG 1 -- us2k10--------
    rs1897858531,2
    --32858510(+) GGTCTC/TGCTTT 1 -- us2k10--------
    rs1824438471,2
    --32858599(+) CATCAA/GCCTCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TTC27 (32853087 - 33046118 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for TTC27
         5 CNVs: 53694 5202 97805 8367 5203

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC27
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC27

    (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

    TTC27 for disorders           About GeneDecksing

    2 diseases for TTC27:    About MalaCards
    fanconi's anemia    anemia

    Human Genome Epidemiology (HuGE) Navigator: TTC27 (1 document)

    Export disorders for TTC27 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 TTC27 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with TTC27)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    3. Multiple loci influencing hippocampal degeneration ide ntified by genome scan. (PubMed id 22745009)1 Melville S.A....Farrer L.A. (2012)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    10. TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743)1 Vanderwerf S.M....Bagby G.C. (2009)

    (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: 55622 HGNC: 25986 AceView: FLJ20272 Ensembl:ENSG00000018699 euGenes: HUgn55622
    ECgene: TTC27 H-InvDB: TTC27

    (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 TTC27 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 TTC27 gene:
    Search GeneIP for patents involving TTC27

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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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