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

TTC30A Gene

protein-coding   GIFtS: 44
GCID: GC02M178479

tetratricopeptide repeat domain 30A

 Explore 1 disease affiliated with
TTC30A via our new
 Human Malady Compendium 
Biological research products
for TTC30A
    

(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 30A1 2
TPR Repeat Protein 30A2 3
FLJ139461
Tetratricopeptide Repeat Protein 30A2

External Ids:    HGNC: 258531   Entrez Gene: 921042   Ensembl: ENSG000001975577   UniProtKB: Q86WT13   

Export aliases for TTC30A gene to outside databases

Previous GC identifers: GC02M178187 GC02M170350


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

UniProtKB/Swiss-Prot: TT30A_HUMAN, Q86WT1
Function: Required for polyglutamylation of axonemal tubulin (By similarity). Plays a role in anterograde
intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to
the site of their incorporation at the tip (By similarity)




(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_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TTC30A gene promoter:
         E2F-4   E2F-3a   E2F-5   Nkx2-5   E2F-2   Gfi-1   FOXL1   E2F   E2F-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTTC30A promoter sequence
   Search SABiosciences Chromatin IP Primers for TTC30A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TTC30A


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

Entrez Gene cytogenetic band: 2q31.2   Ensembl cytogenetic band:  2q31.2   HGNC cytogenetic band: 2q31.2

TTC30A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TTC30A gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M178479:  view genomic region     (about GC identifiers)

Start:
178,479,026 bp from pter      End:
178,483,694 bp from pter
Size:
4,669 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: TT30A_HUMAN, Q86WT1 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 30A  
Size: 665 amino acids; 76136 Da
Subcellular location: Cell projection, cilium (By similarity)
Secondary accessions: A8K8N0 Q8IVP2

Explore the universe of human proteins at neXtProt for TTC30A: NX_Q86WT1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86WT1

  • TTC30A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689488.3  
    ENSEMBL proteins: 
     ENSP00000347915  

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    Uscn Proteins for TTC30A

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--


    TTC30A for ontologies           About GeneDecksing



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

    TTC30A for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR013105 TPR_2
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q86WT1

    ProtoNet protein and cluster: Q86WT1

    UniProtKB/Swiss-Prot: TT30A_HUMAN, Q86WT1
    Similarity: Belongs to the TTC30/dfy-1/fleer family
    Similarity: Contains 8 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:

         UniProtKB/Swiss-Prot: TT30A_HUMAN, Q86WT1
    Function: Required for polyglutamylation of axonemal tubulin (By similarity). Plays a role in anterograde
    intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to
    the site of their incorporation at the tip (By similarity)

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    1 GenomeRNAi human phenotype for TTC30A:
     Decreased viability with pacli 


    (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 TTC30A

    1 Interacting protein for TTC30A (Q86WT13) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEF1DP296923I2D: 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:0030030cell projection organization IEA--


    TTC30A 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 TTC30A
    Search CenterWatch for drugs/clinical trials and news about TTC30A / TT30A 

    (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,
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    About This Section

    REFSEQ mRNAs for TTC30A gene: 
    NM_152275.3  

    Unigene Cluster for TTC30A:

    Tetratricopeptide repeat domain 30A
    Hs.128384  [show with all ESTs]
    Unigene Representative Sequence: NM_152275
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000355689(uc002ulo.3)

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    hsa-miR-579 hsa-miR-3689b hsa-miR-3128 hsa-miR-498 hsa-miR-136 hsa-miR-4263 hsa-miR-885-5p hsa-miR-606
    SwitchGear 3'UTR luciferase reporter plasmidTTC30A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TTC30A
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    Additional cDNA sequence: 

    AK057530.1 AK125104.1 AK292395.1 AL049329.1 BC017695.1 BC042848.1 BC048006.1 

    3 DOTS entries:

    DT.40127420  DT.100777529  DT.95145747 

    24/46 AceView cDNA sequences (see all 46):

    NM_152275 BF969452 AI948644 BQ015522 AI432662 BM976312 BQ213649 AI381646 
    AL049329 BQ189398 AK125104 BM684657 AW188998 AU142846 CD359939 CK299531 
    AA974712 AI857364 AI124807 AK024008 AW663581 BC048006 AK057530 AW274147 

    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

    TTC30A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAGTATTTGT

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

    About this image

    TTC30A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TTC30A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TTC30A

    SOURCE GeneReport for Unigene cluster: Hs.128384
        SABiosciences Custom PCR Arrays for TTC30A
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC30A

    (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 TTC30A gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ttc30a11 , 5 tetratricopeptide repeat domain 30A11, 5 86.53(n)1
    90.5(a)1
      2 (44.80 cM)5
    788021  NM_030188.31  NP_084464.31 
     759782475 
    chicken
    (Gallus gallus)
    Aves TTC30A1 tetratricopeptide repeat domain 30A 74.39(n)
    76.52(a)
      429016  XM_426574.3  XP_426574.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    74(a)
    1 → many
    GL343411.1(299296-301326)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75502 Xenopus laevis transcribed sequence with weak similarity more 79.87(n)    AW645552.1 
    zebrafish
    (Danio rerio)
    Actinopterygii flr6
    fleer
    76(a)
    1 → many
    3(28982569-29001938)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51426
    --
    46(a)
    1 → many
    2L(13106871-13109468)
    worm
    (Caenorhabditis elegans)
    Secernentea dyf-16
    Tetratricopeptide repeat protein 30 homolog
    48(a)
    1 → many
    I(4989556-4994662)


    ENSEMBL Gene Tree for TTC30A (if available)
    TreeFam Gene Tree for TTC30A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TTC30A gene
    TTC30B2  
    1 SIMAP similar gene for TTC30A using alignment to 1 protein entry:     TT30A_HUMAN:
    TTC30B

    TTC30A 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

    10/190 NCBI SNPs in TTC30A are shown (see all 190    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs751612371,2
    --178478534(+) AATTAA/CGGTAT 1 -- ds50010--------
    rs787987631,2
    --178478568(+) TTATTT/ACACAA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1873875591,2
    --178478576(+) CAAACA/GTGCAA 1 -- ds50010--------
    rs101893031,2
    C,F,H,--178478580(+) CGTGCA/TAATTT 1 -- ds500125Minor allele frequency- T:0.10NA NS EA WA 2904
    rs1901822541,2
    --178478599(+) AACAAA/GGATTT 1 -- ds50010--------
    rs769598961,2
    C,F,--178478677(+) CTAACA/TAATGC 1 -- ds50013Minor allele frequency- T:0.11WA NA EA 358
    rs1428949201,2
    C,--178478683(+) ATGCT-/TATATTT 1 -- ds50010--------
    rs1818388141,2
    --178478713(+) TATAAC/GTCTCT 1 -- ds50010--------
    rs1407534651,2
    --178478818(+) CTTGGA/CCCAAA 1 -- ds50010--------
    rs1861740291,2
    --178479125(+) TGAGTC/TCAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TTC30A (178479026 - 178483694 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TTC30A: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TTC30A
    DNA2.0 Custom Variant and Variant Library Synthesis for TTC30A

    (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

    TTC30A for disorders           About GeneDecksing

    1 disease for TTC30A:    About MalaCards
    neuronitis


    Export disorders for TTC30A 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 TTC30A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with TTC30A)
        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. 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)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 92104 HGNC: 25853 AceView: FLJ13946 Ensembl:ENSG00000197557 euGenes: HUgn92104
    ECgene: TTC30A H-InvDB: TTC30A

    (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 TTC30A 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 TTC30A gene:
    Search GeneIP for patents involving TTC30A

    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
    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

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    VWF
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    von Willebrand factor
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