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TTC30A Gene

protein-coding   GIFtS: 47
GCID: GC02M178479

Tetratricopeptide Repeat Domain 30A

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Tetratricopeptide Repeat Domain 30A1 2
TPR Repeat Protein 30A2 3
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TTC30A Gene:
TTC30A (tetratricopeptide repeat domain 30A) is a protein-coding gene. An important paralog of this gene is TTC30B.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   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 Chromatin IP Primers for TTC30A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
178,477,720 bp from pter      End:
178,483,694 bp from pter
Size:
5,975 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TT30A_HUMAN, Q86WT1 (See protein sequence)
Recommended Name: Tetratricopeptide repeat protein 30A  
Size: 665 amino acids; 76136 Da
Secondary accessions: A8K8N0 Q8IVP2

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

Explore proteomics data for TTC30A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys123, Lys643
  • Modification sites at PhosphoSitePlus

  • See TTC30A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_689488.3  
    ENSEMBL proteins: 
     ENSP00000347915  

    TTC30A Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for TTC30A

     
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    antibodies-online proteins for TTC30A 

     
    antibodies-online peptides for TTC30A

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    antibodies-online antibodies for TTC30A (5 products) 

    TTC30A Assay Products:

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    Cloud-Clone Corp. ELISAs for TTC30A
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    antibodies-online kits for TTC30A (4 products) 


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

    4 InterPro protein domains:
     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


    Find genes that share domains with TTC30A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with TTC30A           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TTC30A:
     Decreased viability with pacli 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TTC30A

    miRNA
    Products:
        
    miRTarBase miRNAs that target TTC30A:
    hsa-mir-186-5p (MIRT044950)

    Block miRNA regulation of human, mouse, rat TTC30A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC30A (see all 26):
    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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    Predesigned siRNA for gene silencing in human, mouse, rat TTC30A

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    Clone
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    GenScript: all cDNA clones in your preferred vector: TTC30A (NM_152275)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TTC30A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC30A

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TTC30A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TT30A_HUMAN, Q86WT1: Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with TTC30A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TTC30A
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030030cell projection organization IEA--

    Find genes that share ontologies with TTC30A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TTC30A (TT30A)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TTC30A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TTC30A (see all 26):
    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
    Products:
         
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    Clone
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    GenScript: all cDNA clones in your preferred vector: TTC30A (NM_152275)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TTC30A
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for TTC30A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TTC30A
      QuantiTect SYBR Green Assays in human, mouse, rat TTC30A
      QuantiFast Probe-based Assays in human, mouse, rat TTC30A

    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.40127420  DT.100777529  DT.95145747 

    Selected AceView cDNA sequences (see all 46):

    AI948644 BQ015522 BF969452 BM976312 AI432662 BQ213649 NM_152275 AW274147 
    AU142846 BQ189398 AK125104 AI124807 BM559573 AW663581 BM684657 CD359939 
    AW188998 AL049329 AI857364 AI381646 AA974712 BC017695 AK057530 BC048006 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TTC30A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGTATTTGT
    TTC30A Expression
    About this image

    TTC30A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TTC30A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.128384
        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for TTC30A gene from Selected species (see all 13)    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 --
    Uncharacterized protein
    76(a)
    1 → many
    7(15181596-15183599)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    75(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) ENSDARG00000038024
    fruit fly
    (Drosophila melanogaster)
    Insecta CG51426
    --
    46(a)
    1 → many
    2L(13106871-13109468)
    worm
    (Caenorhabditis elegans)
    Secernentea dyf-16
    Protein DYF-1, isoform b (dyf-1) mRNA, complete cd...
    47(a)
    1 → many
    I(4989555-4994661) WBGene00001117


    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)
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    Paralogs for TTC30A gene
    TTC30B2  
    1 SIMAP similar gene for TTC30A using alignment to 1 protein entry:     TT30A_HUMAN:
    TTC30B

    Find genes that share paralogs with TTC30A           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TTC30A (see all 229)    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
    F--178478568(+) TTATTT/ACACAA 1 -- ds50011Minor allele frequency- A:0.01NA 120
    rs1873875591,2
    C--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
    C--178478818(+) CTTGGA/CCCAAA 1 -- ds50010--------
    rs1861740291,2
    --178479125(+) TGAGTC/TCAAAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for TTC30A (178477720 - 178483694 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TTC30A: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    Find genes that share disorders with TTC30A           About GenesLikeMe

    Genetic Association Database (GAD): TTC30A

    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)
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    PubMed articles for TTC30A gene integrated from 10 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. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study. (PubMed id 17903294)4 Yang Q....O'Donnell C.J. (BMC Med. Genet. 2007)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    6. 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. (Genome Res. 2004)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 92104 HGNC: 25853 AceView: FLJ13946 Ensembl:ENSG00000197557 euGenes: HUgn92104
    ECgene: TTC30A H-InvDB: TTC30A

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for TTC30A gene:
    Search GeneIP for patents involving TTC30A

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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