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Aliases for TTC37 Gene

Aliases for TTC37 Gene

  • Tetratricopeptide Repeat Domain 37 2 3 5
  • KIAA0372 2 3 4
  • 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 HGNC Symbols for TTC37 Gene

  • KIAA0372

Previous GeneCards Identifiers for TTC37 Gene

  • GC05M094826
  • GC05M089989

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 and Diarrhea. Among its related pathways are Deadenylation-dependent mRNA decay and Gene Expression.

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

Regulatory Elements for TTC37 Gene

Enhancers for TTC37 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
GH05F095553 1.1 ENCODE 23.7 0.0 -42 3.1 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 TTC37 RNU6-308P RHOBTB3 ARSK
GH05F095590 0.8 Ensembl ENCODE 27.7 -36.7 -36745 3.1 JUN JUNB FOS NR2F6 EBF1 GABPA NR2C2 TTC37 GPR150 RNU6-308P ARSK
GH05F095445 0.8 Ensembl ENCODE 22.7 +108.3 108285 2.3 CEBPB FEZF1 EBF1 EP300 TTC37 FAM81B RNU6-308P LOC100420911 GC05P095460
GH05F094616 1.1 ENCODE 11.1 +936.5 936480 3.5 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 NPM1P27 TTC37 KIAA0825 RPL7P18 ENSG00000270133
GH05F095471 0.4 ENCODE 26.7 +83.0 83011 1.3 CTCF ZFHX2 TTC37 RNU6-308P FAM81B GC05P095462
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTC37 on UCSC Golden Path with GeneCards custom track

Promoters for TTC37 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001285628 -93 2601 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Genomic Location for TTC37 Gene

Chromosome:
5
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

Genes around TTC37 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTC37 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTC37 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for TTC37 Gene

  • Ubiquitination at Lys 619 and Lys 1516
  • Modification sites at PhosphoSitePlus

Other Protein References for TTC37 Gene

No data available for DME Specific Peptides for TTC37 Gene

Domains & Families for TTC37 Gene

Gene Families for TTC37 Gene

Protein Domains for TTC37 Gene

Suggested Antigen Peptide Sequences for TTC37 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PGP7

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for TTC37 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 TTC37 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
extracellular 1
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 16024656
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 & Interactions for TTC37 Gene

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

No data available for SIGNOR curated interactions for TTC37 Gene

Transcripts for TTC37 Gene

Unigene Clusters for TTC37 Gene

Tetratricopeptide repeat domain 37:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for TTC37 Gene

Protein differential expression in normal tissues from HIPED for TTC37 Gene

This gene is overexpressed in Lymph node (8.0), Salivary gland (6.4), and Bone (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TTC37 Gene



Protein tissue co-expression partners for TTC37 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TTC37 Gene:

TTC37

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 expression patterns with TTC37: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TTC37 Gene

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 34 35
  • 97.72 (n)
dog
(Canis familiaris)
Mammalia TTC37 34 35
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia TTC37 34 35
  • 91.45 (n)
mouse
(Mus musculus)
Mammalia Ttc37 34 16 35
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Ttc37 34
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC37 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC37 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC37 34 35
  • 70.96 (n)
lizard
(Anolis carolinensis)
Reptilia TTC37 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc37 34
  • 65.04 (n)
Str.19562 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.29076 34
zebrafish
(Danio rerio)
Actinopterygii LOC100332172 34
  • 59.36 (n)
TTC37 35
  • 55 (a)
OneToOne
wufd11f08 34
fruit fly
(Drosophila melanogaster)
Insecta CG8777 34 35
  • 40.82 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003279 34
  • 40.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKI3 35 37
  • 17 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for TTC37 was found in the sources mined by GeneCards:
  • 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

(1) 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
rs376720108 Trichohepatoenteric syndrome 1 (THES1) [MIM:222470] 95,467,972(+) TTTCC(A/G)AAAGA reference, missense
rs763816083 Trichohepatoenteric syndrome 1 (THES1) [MIM:222470] 95,536,817(+) ATTAC(C/T)TGATT nc-transcript-variant, reference, missense
VAR_067958 Trichohepatoenteric syndrome 1 (THES1) [MIM:222470]
rs387907147 Pathogenic 95,540,794(-) CACGG(C/T)AGGAA nc-transcript-variant, reference, stop-gained
rs387907148 Pathogenic 95,517,186(-) GAAAA(C/T)AAGTA nc-transcript-variant, reference, stop-gained

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

Variant ID Type Subtype PubMed ID
nsv964908 CNV duplication 23825009
nsv598954 CNV loss 21841781
esv2667457 CNV deletion 23128226
esv2665441 CNV deletion 23128226

Variation tolerance for TTC37 Gene

Residual Variation Intolerance Score: 83.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.74; 95.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTC37 Gene

Human Gene Mutation Database (HGMD)
TTC37
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTC37

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTC37 Gene

Disorders for TTC37 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTC37 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichohepatoenteric syndrome 1
  • syndromic diarrhea
diarrhea
  • diarrhea of presumed infectious origin
bacterial conjunctivitis
  • purulent conjunctivitis
atrophic rhinitis
  • dry rhinitis
- elite association - COSMIC cancer census association via MalaCards
Search TTC37 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TTC37

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTC37
genes like me logo Genes that share disorders with TTC37: view

No data available for Genatlas for TTC37 Gene

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 64
  2. Novel mutations in TTC37 associated with Tricho-Hepato-Enteric syndrome. (PMID: 21120949) Fabre A. … Badens C. (Hum. Mutat. 2011) 3 4 64
  3. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). (PMID: 20176027) Hartley J.L. … Maher E.R. (Gastroenterology 2010) 3 4 64
  4. The human PAF complex coordinates transcription with events downstream of RNA synthesis. (PMID: 16024656) Zhu B. … Reinberg D. (Genes Dev. 2005) 3 4 64
  5. 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 64

Products for TTC37 Gene

Sources for TTC37 Gene

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