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

TTC28 Gene

protein-coding   GIFtS: 44
GCID: GC22M028374

tetratricopeptide repeat domain 28

 Explore 1 disease affiliated with
TTC28 via our new
 Human Malady Compendium 
Biological research products
for TTC28
    

(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 281 2
KIAA10431 3
TPR Repeat Protein 282 3
TPRBK2
Tetratricopeptide Repeat Protein 282
TPR-Containing Big Gene Cloned At Keio2

External Ids:    HGNC: 291791   Entrez Gene: 233312   Ensembl: ENSG000001001547   OMIM: 6150985   UniProtKB: Q96AY43   

Export aliases for TTC28 gene to outside databases

Previous GC identifers: GC22M026704 GC22M011338


(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_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC28 gene promoter:
         HOXA9B   HOXA9   SRF   AML1a   SRF (504 AA)   Meis-1b   Evi-1   AREB6   FOXC1   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TTC28

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC28


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

Entrez Gene cytogenetic band: 22q12.1   Ensembl cytogenetic band:  22q12.1   HGNC cytogenetic band: 22q12.1

TTC28 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC28 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M028374:  view genomic region     (about GC identifiers)

Start:
28,374,002 bp from pter      End:
29,075,853 bp from pter
Size:
701,852 bases      Orientation:
minus 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: TTC28_HUMAN, Q96AY4 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 28  
Size: 2481 amino acids; 270884 Da
Sequence caution: Sequence=AAH16465.1; Type=Erroneous initiation; Sequence=CAB62963.1; Type=Erroneous gene model
prediction; Sequence=CAB62964.1; Type=Erroneous gene model prediction;
Secondary accessions: O95928 O95929 Q5W189 Q9NTE4 Q9UG31 Q9UGG5 Q9UPV8 Q9Y3S5

Explore the universe of human proteins at neXtProt for TTC28: NX_Q96AY4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96AY4

  • TTC28 Protein expression data from MOPED and PaxDb:    About this image 
    TTC28 Protein Expression
    REFSEQ proteins: NP_001138890.1  
    ENSEMBL proteins: 
     ENSP00000381003   ENSP00000410244   ENSP00000388788  

    Human Recombinant Protein Products for TTC28: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TTC28 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR024983 CHAT_dom
     IPR001440 TPR-1
     IPR011990 TPR-like_helical
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q96AY4

    ProtoNet protein and cluster: Q96AY4

    1 Blocks protein family: IPB011595 TPR-related region

    UniProtKB/Swiss-Prot: TTC28_HUMAN, Q96AY4
    Similarity: Contains 28 TPR repeats


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         1 GenomeRNAi human phenotype for TTC28:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TTC28 

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    hsa-miR-4272 hsa-miR-200a hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-3161 hsa-miR-409-5p hsa-miR-30a
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    (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 TTC28

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

    5/7 Interacting proteins for TTC28 (Q96AY43 ENSP000003810034) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BREQ9NXR73, ENSP000003434124I2D: score=2 STRING: ENSP00000343412
    ZNF862O602903, ENSP000002232104I2D: score=1 STRING: ENSP00000223210
    YWHAGP619813I2D: score=2 
    AXIN2Q9Y2T13I2D: score=1 
    SSPOA2VEC93I2D: score=1 
    About this table

    (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 TTC28
    Search CenterWatch for drugs/clinical trials and news about TTC28 

    (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,
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    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 TTC28 gene (2 alternative transcripts): 
    NM_015281.1  NM_001145418.1  

    Unigene Cluster for TTC28:

    Tetratricopeptide repeat domain 28
    Hs.387856  [show with all ESTs]
    Unigene Representative Sequence: NM_001145418
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397906(uc003adp.4) ENST00000431039 ENST00000480563 ENST00000469670
    ENST00000442232 ENST00000490475 ENST00000468807

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TTC28
    8/114 QIAGEN miScript miRNA Assays for microRNAs that regulate TTC28 (see all 114):
    hsa-miR-4272 hsa-miR-200a hsa-miR-128 hsa-miR-3653 hsa-miR-30d hsa-miR-3161 hsa-miR-409-5p hsa-miR-30a
    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 TTC28 (see all 4)
    OriGene shRNA RFP: TTC28
    OriGene siRNA: TTC28
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    Sirion Biotech Custom design and validation of potent shRNA sequences against TTC28 
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TTC28 (see all 2)
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    Additional cDNA sequence: 

    AB028966.3 AB665284.1 AK055553.1 AK092338.1 AL080174.1 AL137328.1 BC016465.1 

    10 DOTS entries:

    DT.309770  DT.415144  DT.415145  DT.100022255  DT.99954436  DT.100648656  DT.40241226  DT.86821042 
    DT.99952911  DT.120662985 

    24/70 AceView cDNA sequences (see all 70):

    AW020581 AI005637 AI271769 AW959321 CA397387 BU507114 BE301316 CD557422 
    AL080174 AA443013 AL137328 BC016465 AW629816 NM_015281 BU902636 AA359630 
    AB028966 BI826649 CA842002 BI712730 BX458028 BF034701 BI712492 CF143247 

    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

    TTC28 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTTCCCTCA
    TTC28 Expression
    About this image
    See TTC28 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC28

    SOURCE GeneReport for Unigene cluster: Hs.387856
        SABiosciences Custom PCR Arrays for TTC28

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC28

    (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 TTC28 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TTC281 tetratricopeptide repeat domain 28 79.86(n)
    89.93(a)
      416914  XM_415205.3  XP_415205.3 
    zebrafish
    (Danio rerio)
    Actinopterygii AL913031.12   -- 73.53(n)   323057  AL913031.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG431631 CG43163 53.94(n)
    51.83(a)
      38966  NM_139971.2  NP_648228.2 


    ENSEMBL Gene Tree for TTC28 (if available)
    TreeFam Gene Tree for TTC28 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC28 gene
    GPSM22  TTC242  GPSM12  

    TTC28 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

    10/9389 NCBI SNPs in TTC28 are shown (see all 9389    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926806751,2
    --28373531(+) TAGCCA/GAATGA 2 -- ds5001 int10--------
    rs794344051,2
    C--28373567(+) ATTTG-/GTTTCA 2 -- int1 ds50010--------
    rs169857951,2
    C,F--28373569(+) TTTGTG/TTTCAT 2 -- ds5001 int13Minor allele frequency- T:0.48NA 140
    rs675036141,2
    C--28373569(+) TTTGTG/-TTCAT 2 -- ds5001 int11Minor allele frequency- -:0.50CSA 2
    rs796661721,2
    C,F--28373593(+) CCCAAT/GTCTTT 2 -- ds5001 int11Minor allele frequency- G:0.07WA 118
    rs1456136731,2
    --28373622(+) TCACAA/CTTTTG 2 -- int1 ds50010--------
    rs1488791001,2
    --28373646(+) CTTCCA/TTCTTT 2 -- int1 ds50010--------
    rs4700971,2
    C,F,O,A,H--28373744(+) ACTGTA/CGAACT 2 -- int1 ds500127Minor allele frequency- N:0.00CSA EA NA NS WA 2782
    rs1831119711,2
    --28373795(+) CCACCA/GACAGT 2 -- ds5001 int10--------
    rs1883963471,2
    --28373822(+) CGTGCA/GGGACA 2 -- int1 ds50010--------

    HapMap Linkage Disequilibrium report for TTC28 (28374002 - 28624002 bp, first 250kb of TTC28)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for TTC28
         5 CNVs: 73808 91014 59071 32463 31088

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TTC28

    (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

    TTC28 for disorders           About GeneDecksing

    OMIM gene information: 615098    OMIM disorders: --

    1 disease for TTC28:    About MalaCards
    obesity

    Human Genome Epidemiology (HuGE) Navigator: TTC28 (1 document)

    Export disorders for TTC28 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 TTC28 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with TTC28)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
    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. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    5. A novel big protein TPRBK possessing 25 units of TPR motif is essential for the progress of mitosis and cytokinesis. (PubMed id 23036704)1 Izumiyama T.... Shimizu N. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. 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)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. A genome-wide association study on obesity and obesit y-related traits. (PubMed id 21552555)1 Wang K....Price R.A. (2011)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)

    (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: 23331 HGNC: 29179 AceView: KIAA1043 Ensembl:ENSG00000100154 euGenes: HUgn23331
    ECgene: TTC28 H-InvDB: TTC28

    (According to HUGE)
    About This Section
    HUGE: KIAA1043

    (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 TTC28 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 TTC28 gene:
    Search GeneIP for patents involving TTC28

    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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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