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Aliases for TTC37 Gene

Aliases for TTC37 Gene

  • Tetratricopeptide Repeat Domain 37 2 3
  • KIAA0372 2 3 4 6
  • Thespin 2 3 4
  • Tricho-Hepatic-Enteric Syndrome Protein 3 4
  • TPR Repeat Protein 37 3 4
  • SKI3 Homolog 3 4
  • Ski3 3 4
  • Tetratricopeptide Repeat Protein 37 3
  • THES 3

External Ids for TTC37 Gene

Previous Symbols for TTC37 Gene

  • KIAA0372

Summaries for TTC37 Gene

Entrez Gene Summary for TTC37 Gene

  • This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]

GeneCards Summary for TTC37 Gene

TTC37 (Tetratricopeptide Repeat Domain 37) is a Protein Coding gene. Diseases associated with TTC37 include trichohepatoenteric syndrome 1. Among its related pathways are Deadenylation-dependent mRNA decay.

UniProtKB/Swiss-Prot for TTC37 Gene

  • Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C)

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTC37 Gene

Genomics for TTC37 Gene

Genomic Location for TTC37 Gene

Start:
95,463,895 bp from pter
End:
95,555,007 bp from pter
Size:
91,113 bases
Orientation:
Minus strand

Genomic View for TTC37 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TTC37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTC37 Gene

Regulatory Elements for TTC37 Gene

Proteins for TTC37 Gene

  • Protein details for TTC37 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PGP7-TTC37_HUMAN
    Recommended name:
    Tetratricopeptide repeat protein 37
    Protein Accession:
    Q6PGP7
    Secondary Accessions:
    • O15077
    • Q6PJI3

    Protein attributes for TTC37 Gene

    Size:
    1564 amino acids
    Molecular mass:
    175486 Da
    Quaternary structure:
    • Component of the SKI complex which consists of WDR61, SKIV2L and TTC37. Interacts with PAF1.
    SequenceCaution:
    • Sequence=BAA20827.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for TTC37 Gene

Proteomics data for TTC37 Gene at MOPED

Post-translational modifications for TTC37 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys619 and Lys1516

Other Protein References for TTC37 Gene

No data available for DME Specific Peptides for TTC37 Gene

Domains for TTC37 Gene

Gene Families for TTC37 Gene

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

Protein Domains for TTC37 Gene

UniProtKB/Swiss-Prot:

TTC37_HUMAN
Similarity:
  • Contains 20 TPR repeats.:
    • Q6PGP7
genes like me logo Genes that share domains with TTC37: view

Function for TTC37 Gene

Molecular function for TTC37 Gene

UniProtKB/Swiss-Prot Function: Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C)

Gene Ontology (GO) - Molecular Function for TTC37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16024656
genes like me logo Genes that share ontologies with TTC37: view

miRNA for TTC37 Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for TTC37 Gene

Localization for TTC37 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTC37 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTC37 Gene COMPARTMENTS Subcellular localization image for TTC37 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for TTC37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16024656
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0035327 transcriptionally active chromatin IDA 16024656
GO:0055087 Ski complex IDA 16024656
genes like me logo Genes that share ontologies with TTC37: view

Pathways for TTC37 Gene

SuperPathways for TTC37 Gene

Superpath Contained pathways
1 Deadenylation-dependent mRNA decay
genes like me logo Genes that share pathways with TTC37: view

Pathways by source for TTC37 Gene

1 KEGG pathway for TTC37 Gene

Gene Ontology (GO) - Biological Process for TTC37 Gene

None

Transcripts for TTC37 Gene

Unigene Clusters for TTC37 Gene

Tetratricopeptide repeat domain 37:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTC37 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^
SP1: - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:

ExUns: 42 ^ 43 ^ 44
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for TTC37 Gene

GeneLoc Exon Structure for
TTC37
ECgene alternative splicing isoforms for
TTC37

Expression for TTC37 Gene

mRNA expression in normal human tissues for TTC37 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTC37 Gene

SOURCE GeneReport for Unigene cluster for TTC37 Gene Hs.482868

mRNA Expression by UniProt/SwissProt for TTC37 Gene

Q6PGP7-TTC37_HUMAN
Tissue specificity: Widely expressed with the highest levels observed in vascular tissues, lymph node, pituitary, lung and intestine. Not expressed in the liver.
genes like me logo Genes that share expressions with TTC37: view

Orthologs for TTC37 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TTC37 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TTC37 36
  • 97.72 (n)
  • 96.6 (a)
TTC37 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TTC37 36
  • 91.45 (n)
  • 92.26 (a)
TTC37 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTC37 36
  • 91.92 (n)
  • 92.33 (a)
TTC37 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc37 36
  • 85.03 (n)
  • 84.71 (a)
Ttc37 16
Ttc37 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTC37 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC37 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttc37 36
  • 84.56 (n)
  • 83.88 (a)
chicken
(Gallus gallus)
Aves TTC37 36
  • 70.96 (n)
  • 67.18 (a)
TTC37 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC37 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.29076 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19562 36
ttc37 36
  • 65.04 (n)
  • 61.75 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100332172 36
  • 59.36 (n)
  • 56.12 (a)
TTC37 37
  • 55 (a)
OneToOne
wufd11f08 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003279 36
  • 40.76 (n)
  • 29.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG8777 36
  • 40.82 (n)
  • 28.6 (a)
CG8777 37
  • 24 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKI3 37
  • 17 (a)
OneToOne
SKI3 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToOne
Species with no ortholog for TTC37:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 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)
  • worm (Caenorhabditis elegans)

Evolution for TTC37 Gene

ENSEMBL:
Gene Tree for TTC37 (if available)
TreeFam:
Gene Tree for TTC37 (if available)

Paralogs for TTC37 Gene

Selected SIMAP similar genes for TTC37 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TTC37: view

No data available for Paralogs for TTC37 Gene

Variants for TTC37 Gene

Sequence variations from dbSNP and Humsavar for TTC37 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs7534 -- 95,464,530(-) CCAAA(A/G)CAACA utr-variant-3-prime
rs890739 -- 95,544,638(-) AATAA(A/G)GCCCC intron-variant
rs1016559 -- 95,513,780(+) CACTT(A/C)TATTG intron-variant
rs1062020 -- 95,484,759(-) ACACA(G/T)GAAGA reference, stop-gained
rs1062073 -- 95,464,095(-) TCTCC(A/G)ATTCT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TTC37 Gene

Variant ID Type Subtype PubMed ID
nsv882388 CNV Loss 21882294
esv2667457 CNV Deletion 23128226
esv2665441 CNV Deletion 23128226

Relevant External Links for TTC37 Gene

HapMap Linkage Disequilibrium report
TTC37
Human Gene Mutation Database (HGMD)
TTC37

Disorders for TTC37 Gene

(1) OMIM Diseases for TTC37 Gene (614589)

UniProtKB/Swiss-Prot

TTC37_HUMAN
  • Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. {ECO:0000269 PubMed:20176027}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TTC37 Gene

genes like me logo Genes that share disorders with TTC37: view

Publications for TTC37 Gene

  1. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The human PAF complex coordinates transcription with events downstream of RNA synthesis. (PMID: 16024656) Zhu B. … Reinberg D. (Genes Dev. 2005) 3 4
  4. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). (PMID: 20176027) Hartley J.L. … Maher E.R. (Gastroenterology 2010) 3 4
  5. Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome. (PMID: 21120949) Fabre A. … Badens C. (Hum. Mutat. 2011) 3 4

Products for TTC37 Gene

Sources for TTC37 Gene

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