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Aliases for TTC30A Gene

Aliases for TTC30A Gene

  • Tetratricopeptide Repeat Domain 30A 2 3 5
  • TPR Repeat Protein 30A 3 4
  • Tetratricopeptide Repeat Protein 30A 3
  • IFT70A 3

External Ids for TTC30A Gene

Previous GeneCards Identifiers for TTC30A Gene

  • GC02M178187
  • GC02M178479
  • GC02M170350

Summaries for TTC30A Gene

GeneCards Summary for TTC30A Gene

TTC30A (Tetratricopeptide Repeat Domain 30A) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport. An important paralog of this gene is TTC30B.

UniProtKB/Swiss-Prot for TTC30A Gene

  • Required for polyglutamylation of axonemal tubulin. 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.

Additional gene information for TTC30A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC30A Gene

Genomics for TTC30A Gene

GeneHancer (GH) Regulatory Elements for TTC30A Gene

Promoters and enhancers for TTC30A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I177617 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.1 +0.2 230 1.7 HDGF PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 TTC30A GC02M177512 GC02M177513 GC02M177514 PDE11A GC02M177488 ENSG00000237655 GC02M177569 GC02M177515 GC02M177480
GH02I177597 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.1 +20.3 20335 2.8 PKNOX1 MLX ARNT ARID4B FEZF1 TCF12 ZNF121 MIER2 ZNF488 PPARG GC02M177602 TTC30A RBM45 TTC30B AGPS GC02M177479 GC02M177516 GC02M177517 GC02M177488 GC02M177514
GH02I178484 Enhancer 0.9 Ensembl 13.4 -865.7 -865740 0.6 SMAD1 NFIB ZNF529 INSM2 MZF1 FEZF1 ZNF213 ZNF366 ZSCAN5C ZNF350 LOC101927027 RBM45 NUDCP2 ENSG00000271401 PJVK PLEKHA3 FKBP7 TTC30A PRKRA TTN-AS1
GH02I177634 Enhancer 1.1 Ensembl ENCODE 6.5 -15.8 -15763 1.5 ARNT NFRKB BMI1 FEZF1 ZNF335 POLR2B ZNF766 GLIS2 ZSCAN5C ZNF143 GC02M177515 GC02M177569 TTC30A GC02M177625 GC02M177480 GC02M177505 GC02M177489 GC02M177490 GC02M177526 GC02M177528
GH02I177542 Enhancer 0.6 Ensembl ENCODE 10.6 +75.5 75541 2.5 SCRT2 ZIC2 GC02M177467 GC02M177487 GC02M177535 GC02M177539 TTC30A LOC100130691 AGPS GC02M177472 GC02M177479 GC02M177488
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC30A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC30A gene promoter:

Genomic Locations for TTC30A Gene

Genomic Locations for TTC30A Gene
chr2:177,612,992-177,618,966
(GRCh38/hg38)
Size:
5,975 bases
Orientation:
Minus strand
chr2:178,477,720-178,483,694
(GRCh37/hg19)

Genomic View for TTC30A Gene

Genes around TTC30A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC30A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC30A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC30A Gene

Proteins for TTC30A Gene

  • Protein details for TTC30A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86WT1-TT30A_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 30A
    Protein Accession:
    Q86WT1
    Secondary Accessions:
    • A8K8N0
    • Q8IVP2

    Protein attributes for TTC30A Gene

    Size:
    665 amino acids
    Molecular mass:
    76136 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TTC30A Gene

Post-translational modifications for TTC30A Gene

Other Protein References for TTC30A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TTC30A Gene

Domains & Families for TTC30A Gene

Protein Domains for TTC30A Gene

Suggested Antigen Peptide Sequences for TTC30A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86WT1

UniProtKB/Swiss-Prot:

TT30A_HUMAN :
  • Belongs to the TTC30/dfy-1/fleer family.
Family:
  • Belongs to the TTC30/dfy-1/fleer family.
genes like me logo Genes that share domains with TTC30A: view

Function for TTC30A Gene

Molecular function for TTC30A Gene

UniProtKB/Swiss-Prot Function:
Required for polyglutamylation of axonemal tubulin. 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.

Phenotypes From GWAS Catalog for TTC30A Gene

Phenotypes for TTC30A Gene

genes like me logo Genes that share phenotypes with TTC30A: view

miRNA for TTC30A Gene

miRTarBase miRNAs that target TTC30A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTC30A Gene

Localization for TTC30A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC30A Gene

Cell projection, cilium.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTC30A gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTC30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium IBA --
GO:0030992 intraciliary transport particle B IBA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with TTC30A: view

Pathways & Interactions for TTC30A Gene

genes like me logo Genes that share pathways with TTC30A: view

Pathways by source for TTC30A Gene

Gene Ontology (GO) - Biological Process for TTC30A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030030 cell projection organization IEA --
GO:0042073 intraciliary transport IBA --
GO:0060271 cilium assembly IBA --
genes like me logo Genes that share ontologies with TTC30A: view

No data available for SIGNOR curated interactions for TTC30A Gene

Drugs & Compounds for TTC30A Gene

No Compound Related Data Available

Transcripts for TTC30A Gene

mRNA/cDNA for TTC30A Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(46) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTC30A Gene

Tetratricopeptide repeat domain 30A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TTC30A Gene

No ASD Table

Relevant External Links for TTC30A Gene

GeneLoc Exon Structure for
TTC30A
ECgene alternative splicing isoforms for
TTC30A

Expression for TTC30A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TTC30A Gene

mRNA differential expression in normal tissues according to GTEx for TTC30A Gene

This gene is overexpressed in Testis (x4.7).

Protein differential expression in normal tissues from HIPED for TTC30A Gene

This gene is overexpressed in Bone (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC30A Gene



Protein tissue co-expression partners for TTC30A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC30A Gene:

TTC30A

SOURCE GeneReport for Unigene cluster for TTC30A Gene:

Hs.128384
genes like me logo Genes that share expression patterns with TTC30A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC30A Gene

Orthologs for TTC30A Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC30A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC30A 33 34
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia TTC30A 34
  • 93 (a)
ManyToMany
TTC30B 34
  • 91 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 92 (a)
ManyToMany
-- 34
  • 92 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ttc30a2 34
  • 91 (a)
ManyToMany
Ttc30b 34
  • 91 (a)
ManyToMany
Ttc30a1 33 16 34
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia LOC100362431 33
  • 86.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 75 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.7550 33
zebrafish
(Danio rerio)
Actinopterygii flr 34
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5142 34
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyf-1 34
  • 47 (a)
OneToMany
Species where no ortholog for TTC30A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for TTC30A Gene

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

Paralogs for TTC30A Gene

Paralogs for TTC30A Gene

(1) SIMAP similar genes for TTC30A Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TTC30A: view

Variants for TTC30A Gene

Sequence variations from dbSNP and Humsavar for TTC30A Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000281001 -- 177,613,937(-) ACTTA/A downstream_transcript_variant
rs1000367061 -- 177,619,110(-) G/A upstream_transcript_variant
rs1000745818 -- 177,614,518(-) T/C 3_prime_UTR_variant
rs1001158289 -- 177,614,142(-) T/C downstream_transcript_variant
rs1002351517 -- 177,614,604(-) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for TTC30A Gene

Variant ID Type Subtype PubMed ID
esv2762964 CNV loss 21179565
esv3593466 CNV gain 21293372
nsv1141961 OTHER inversion 24896259
nsv583688 CNV loss 21841781
nsv583689 CNV loss 21841781
nsv961914 CNV duplication 23825009

Variation tolerance for TTC30A Gene

Residual Variation Intolerance Score: 77.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.65; 72.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTC30A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC30A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC30A Gene

Disorders for TTC30A Gene

Additional Disease Information for TTC30A

No disorders were found for TTC30A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TTC30A Gene

Publications for TTC30A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for TTC30A Gene

Sources for TTC30A Gene

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