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Aliases for TTC7A Gene

Aliases for TTC7A Gene

  • Tetratricopeptide Repeat Domain 7A 2 3
  • TTC7 3 4 6
  • TPR Repeat Protein 7A 3 4
  • KIAA1140 4 6
  • MINAT 3 6
  • Tetratricopeptide Repeat Protein 7A 3
  • Tetratricopeptide Repeat Domain 7 2

External Ids for TTC7A Gene

Previous Symbols for TTC7A Gene

  • TTC7

Summaries for TTC7A Gene

Entrez Gene Summary for TTC7A Gene

  • This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

GeneCards Summary for TTC7A Gene

TTC7A (Tetratricopeptide Repeat Domain 7A) is a Protein Coding gene. Diseases associated with TTC7A include intestinal atresia, multiple and intestinal atresia. An important paralog of this gene is TTC7B.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC7A Gene

Genomics for TTC7A Gene

Genomic Location for TTC7A Gene

Start:
46,916,129 bp from pter
End:
47,076,137 bp from pter
Size:
160,009 bases
Orientation:
Plus strand

Genomic View for TTC7A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC7A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC7A Gene

Regulatory Elements for TTC7A Gene

Proteins for TTC7A Gene

  • Protein details for TTC7A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULT0-TTC7A_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 7A
    Protein Accession:
    Q9ULT0
    Secondary Accessions:
    • Q2T9J9
    • Q6PIX4
    • Q8ND67
    • Q9BUS3

    Protein attributes for TTC7A Gene

    Size:
    858 amino acids
    Molecular mass:
    96185 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA86454.2; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTC7A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTC7A Gene

Proteomics data for TTC7A Gene at MOPED

Post-translational modifications for TTC7A Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys157, Lys172, Lys758, Lys765, and Lys800

No data available for DME Specific Peptides for TTC7A Gene

Domains for TTC7A Gene

Gene Families for TTC7A Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Protein Domains for TTC7A Gene

UniProtKB/Swiss-Prot:

TTC7A_HUMAN
Similarity:
  • Contains 9 TPR repeats.:
    • Q9ULT0
genes like me logo Genes that share domains with TTC7A: view

Function for TTC7A Gene

Gene Ontology (GO) - Molecular Function for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with TTC7A: view
genes like me logo Genes that share phenotypes with TTC7A: view

miRNA for TTC7A Gene

miRTarBase miRNAs that target TTC7A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for TTC7A Gene

Localization for TTC7A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC7A Gene COMPARTMENTS Subcellular localization image for TTC7A gene
Compartment Confidence
cytosol 3
nucleus 2
golgi apparatus 1

No data available for Gene Ontology (GO) - Cellular Components for TTC7A Gene

Pathways for TTC7A Gene

SuperPathways for TTC7A Gene

No Data Available

Interacting Proteins for TTC7A Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000316699%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000458238%0d%0a9606.ENSP00000254624%0d%0a9606.ENSP00000384081%0d%0a
Selected Interacting proteins: ENSP00000316699 for TTC7A Gene via STRING

Gene Ontology (GO) - Biological Process for TTC7A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006879 cellular iron ion homeostasis --
GO:0030097 hemopoiesis --
genes like me logo Genes that share ontologies with TTC7A: view

No data available for Pathways by source for TTC7A Gene

Transcripts for TTC7A Gene

mRNA/cDNA for TTC7A Gene

(9) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTC7A Gene

Tetratricopeptide repeat domain 7A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC7A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - - -
SP5: -
SP6:
SP7: -

ExUns: 23 ^ 24a · 24b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for TTC7A Gene

GeneLoc Exon Structure for
TTC7A
ECgene alternative splicing isoforms for
TTC7A

Expression for TTC7A Gene

mRNA expression in normal human tissues for TTC7A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC7A Gene

SOURCE GeneReport for Unigene cluster for TTC7A Gene Hs.370603

genes like me logo Genes that share expressions with TTC7A: view

Orthologs for TTC7A Gene

This gene was present in the common ancestor of animals.

Orthologs for TTC7A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC7A 36
  • 99.61 (n)
  • 99.53 (a)
TTC7A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC7A 36
  • 90.13 (n)
  • 93.01 (a)
TTC7A 37
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC7A 36
  • 90.09 (n)
  • 93.95 (a)
TTC7A 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc7 36
  • 86.89 (n)
  • 88.45 (a)
Ttc7 16
Ttc7 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC7A 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC7A 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc7a 36
  • 87.13 (n)
  • 88.45 (a)
chicken
(Gallus gallus)
Aves TTC7A 36
  • 69.72 (n)
  • 73.06 (a)
TTC7A 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC7A 37
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc7a 36
  • 68.23 (n)
  • 68.23 (a)
zebrafish
(Danio rerio)
Actinopterygii ttc7a 36
  • 59.66 (n)
  • 54.57 (a)
ttc7a 37
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta l(2)k14710 37
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y39A3CR.3 37
  • 22 (a)
OneToMany
Species with no ortholog for TTC7A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for TTC7A Gene

ENSEMBL:
Gene Tree for TTC7A (if available)
TreeFam:
Gene Tree for TTC7A (if available)

Paralogs for TTC7A Gene

Paralogs for TTC7A Gene

Selected SIMAP similar genes for TTC7A Gene using alignment to 9 proteins:

genes like me logo Genes that share paralogs with TTC7A: view

Variants for TTC7A Gene

Sequence variations from dbSNP and Humsavar for TTC7A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs734269 -- 47,038,021(+) cgagg(C/T)gggcg intron-variant
rs735887 -- 46,972,807(+) GCTGT(G/T)CTAGG intron-variant
rs735888 -- 46,972,886(+) TGGCC(A/G)GAGAT intron-variant
rs736148 -- 47,069,242(-) GAACC(A/T)CCAAG intron-variant
rs736377 -- 46,998,752(+) CAGGC(C/T)TCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TTC7A Gene

Variant ID Type Subtype PubMed ID
nsv457352 CNV Loss 19166990
nsv524970 CNV Loss 19592680
esv1009804 CNV Deletion 20482838
nsv525197 CNV Loss 19592680
nsv517929 CNV Loss 19592680
nsv518312 CNV Loss 19592680
nsv519298 CNV Loss 19592680
nsv521400 CNV Loss 19592680
nsv519217 CNV Gain 19592680
nsv521030 CNV Loss 19592680
nsv525855 CNV Loss 19592680
nsv457363 CNV Loss 19166990
nsv528091 CNV Loss 19592680
esv1004687 CNV Gain 20482838
nsv873998 CNV Loss 21882294

Relevant External Links for TTC7A Gene

HapMap Linkage Disequilibrium report
TTC7A
Human Gene Mutation Database (HGMD)
TTC7A

Disorders for TTC7A Gene

(1) OMIM Diseases for TTC7A Gene (609332)

UniProtKB/Swiss-Prot

TTC7A_HUMAN
  • Intestinal atresia, multiple (MINAT) [MIM:243150]: A rare, severe congenital disorder in which obstructions occur at various levels throughout the small and large intestines, ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with the phenotype. {ECO:0000269 PubMed:23423984}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTC7A

Genetic Association Database (GAD)
TTC7A
Human Genome Epidemiology (HuGE) Navigator
TTC7A
genes like me logo Genes that share disorders with TTC7A: view

Publications for TTC7A Gene

  1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3 4
  2. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  4. Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. (PMID: 19898481) Raychaudhuri S. … Plenge R.M. (Nat. Genet. 2009) 3 49
  5. Genome-wide association of lipid-lowering response to statins in combined study populations. (PMID: 20339536) Barber M.J. … Krauss R.M. (PLoS ONE 2010) 3 49

Products for TTC7A Gene

Sources for TTC7A Gene

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