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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.

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

Regulatory Elements for TTC30A Gene

Enhancers for TTC30A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G177597 1.5 Ensembl ENCODE dbSUPER 12.1 +20.3 20335 2.8 PKNOX1 ATF1 MLX ARNT ARID4B FEZF1 TCF12 ZNF121 ZNF488 MIER2 TTC30A TTC30B AGPS GC02M177602 GC02M177479
GH02G177634 1.2 Ensembl ENCODE 6.5 -15.8 -15763 1.5 TBP ARNT NFRKB BMI1 FEZF1 ZNF766 GLIS2 ZSCAN5C ZNF143 IKZF2 TTC30A GC02M177515 GC02M177625
GH02G177542 0.7 Ensembl ENCODE 10.6 +75.5 75541 2.5 SCRT2 NFE2 ZIC2 TTC30A LOC100130691 AGPS GC02M177467 GC02M177535
GH02G177617 1.1 ENCODE 5.1 +0.3 270 1.7 HDGF PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 TTC30A PDE11A GC02M177488
GH02G177606 0.8 dbSUPER 5.4 +12.2 12187 1.2 HDAC1 PKNOX1 ATF1 ZBTB21 ZIC2 ZNF2 ZNF507 CTBP1 ZNF366 NFE2 TTC30A AGPS GC02M177488
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC30A on UCSC Golden Path with GeneCards custom track

Promoters for TTC30A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126908 -34 1200 PKNOX1 MLX CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for TTC30A Gene

Chromosome:
2
Start:
177,612,992 bp from pter
End:
177,618,966 bp from pter
Size:
5,975 bases
Orientation:
Minus strand

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

  • Ubiquitination at posLast=643643
  • Modification sites at PhosphoSitePlus

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 for TTC30A Gene

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

Animal Model Products

CRISPR Products

miRNA for TTC30A Gene

miRTarBase miRNAs that target TTC30A

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Primer Products

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 34 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia TTC30A 35
  • 93 (a)
ManyToMany
TTC30B 35
  • 91 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
dog
(Canis familiaris)
Mammalia -- 35
  • 92 (a)
ManyToMany
-- 35
  • 92 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Ttc30a2 35
  • 91 (a)
ManyToMany
Ttc30b 35
  • 91 (a)
ManyToMany
Ttc30a1 34 16 35
  • 86.53 (n)
rat
(Rattus norvegicus)
Mammalia LOC100362431 34
  • 86.07 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 76 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 75 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.7550 34
zebrafish
(Danio rerio)
Actinopterygii flr 35
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG5142 35
  • 46 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dyf-1 35
  • 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 Sequence Context AA Info Type
rs1000281001 -- 177,613,937(+) GTCTC(-/ACTT)AAACT downstream-variant-500B
rs1000367061 -- 177,619,110(+) ACCTC(A/G)GTCTC upstream-variant-2KB
rs1000745818 -- 177,614,518(+) ACCAA(C/T)CTGAG utr-variant-3-prime
rs1001158289 -- 177,614,142(+) ATTAA(C/T)AGTGG downstream-variant-500B
rs1002351517 -- 177,614,604(+) AATCA(C/T)AGTGC utr-variant-3-prime

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)

Relevant External Links 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

Relevant External Links for TTC30A

Genetic Association Database (GAD)
TTC30A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  4. Systematic proteomics of the VCP-UBXD adaptor network identifies a role for UBXN10 in regulating ciliogenesis. (PMID: 26389662) Raman M. … Harper J.W. (Nat. Cell Biol. 2015) 3 64
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64

Products for TTC30A Gene

Sources for TTC30A Gene

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