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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 Bacterial Conjunctivitis. 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).

Additional gene information for TTC37 Gene

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

Genomics for TTC37 Gene

GeneHancer (GH) Regulatory Elements for TTC37 Gene

Promoters and enhancers for TTC37 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
GH05J095553 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 673.7 0.0 -42 3.1 HDGF FOXA2 PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TTC37 ARSK RNU6-308P RHOBTB3
GH05J095724 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 15.2 -175.3 -175270 11.6 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 MEF2D GLIS1 RHOBTB3 TTC37 LOC105379096 ENSG00000249545 ARSK SPATA9 GLRX ELL2 ENSG00000250240
GH05J095590 Enhancer 0.8 Ensembl ENCODE 27.7 -36.7 -36745 3.1 JUN NR2F1 JUNB EBF1 BATF ATF2 IRF4 GABPA JUND IKZF1 TTC37 GPR150 RNU6-308P ARSK
GH05J095445 Enhancer 0.6 ENCODE 22.8 +108.3 108284 2.3 FOSL1 TEAD4 CEBPB CBFA2T3 EBF1 CEBPG MEF2B EP300 TTC37 FAM81B RNU6-308P LOC100420911 GC05P095460
GH05J095709 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.6 -156.4 -156378 4.5 HDGF PKNOX1 SMAD1 FOXA2 ARNT NEUROD1 SIN3A FEZF1 ZNF2 ZBTB7B RHOBTB3 SPATA9 TTC37 ENSG00000250240
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTC37 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTC37 gene promoter:

Genomic Locations for TTC37 Gene

Genomic Locations for TTC37 Gene
chr5:95,463,895-95,555,007
(GRCh38/hg38)
Size:
91,113 bases
Orientation:
Minus strand
chr5:94,799,599-94,890,711
(GRCh37/hg19)

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 posLast=15161516 and isoforms=619
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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

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

No data available for UniProtKB/Swiss-Prot for TTC37 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC37

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTC37 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16024656
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 16024656
GO:0005829 cytosol TAS,IDA --
GO:0035327 transcriptionally active chromatin 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS --
genes like me logo Genes that share ontologies with TTC37: view

No data available for SIGNOR curated interactions for TTC37 Gene

Drugs & Compounds for TTC37 Gene

(1) Drugs for TTC37 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 0
genes like me logo Genes that share compounds with TTC37: view

Transcripts for TTC37 Gene

mRNA/cDNA for TTC37 Gene

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

Unigene Clusters for TTC37 Gene

Tetratricopeptide repeat domain 37:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTC37

Clone 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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for TTC37 Gene

  • Nervous system(4.9)
  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTC37 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • outer ear
  • pharynx
  • salivary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • placenta
  • rectum
  • testicle
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with TTC37: view

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 33
  • 97.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TTC37 34 33
  • 91.92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TTC37 34 33
  • 91.45 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ttc37 16 34 33
  • 85.03 (n)
rat
(Rattus norvegicus)
Mammalia Ttc37 33
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia TTC37 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTC37 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTC37 34 33
  • 70.96 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTC37 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttc37 33
  • 65.04 (n)
Str.19562 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29076 33
zebrafish
(Danio rerio)
Actinopterygii LOC100332172 33
  • 59.36 (n)
TTC37 34
  • 55 (a)
OneToOne
wufd11f08 33
fruit fly
(Drosophila melanogaster)
Insecta CG8777 34 33
  • 40.82 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003279 33
  • 40.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SKI3 36 34
  • 17 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TTC37: view image

Paralogs for TTC37 Gene

(1) SIMAP similar genes for TTC37 Gene using alignment to 5 proteins:

  • TTC37_HUMAN
  • D6RCE2_HUMAN
  • D6RDA0_HUMAN
  • H0Y915_HUMAN
  • H0Y964_HUMAN
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 Variation AA Info Type
rs1060499527 pathogenic, Trichohepatoenteric syndrome 1 95,523,654(-) CC/C coding_sequence_variant, non_coding_transcript_variant, splice_donor_variant
rs1060499528 pathogenic, Trichohepatoenteric syndrome 1 95,516,671(-) C/G splice_donor_variant
rs116690692 benign, likely-benign, not provided, not specified 95,482,498(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs193920885 uncertain-significance, Malignant tumor of prostate 95,543,278(-) C/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs370373017 pathogenic, Trichohepatoenteric syndrome 1 95,467,865(-) C/A/G/T genic_downstream_transcript_variant, splice_donor_variant

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

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

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)

Additional Variant Information for TTC37 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TTC37 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TTC37 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
trichohepatoenteric syndrome 1
  • thes1
bacterial conjunctivitis
  • purulent conjunctivitis
diarrhea
  • diarrhea of presumed infectious origin
atrophic rhinitis
  • dry rhinitis
diarrhea 2, with microvillus atrophy
  • diar2
- 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.

Additional Disease Information for 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  2. Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome. (PMID: 21120949) Fabre A … Badens C (Human mutation 2011) 3 4 58
  3. Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). (PMID: 20176027) Hartley JL … Maher ER (Gastroenterology 2010) 3 4 58
  4. The human PAF complex coordinates transcription with events downstream of RNA synthesis. (PMID: 16024656) Zhu B … Reinberg D (Genes & development 2005) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TTC37 Gene

Sources for TTC37 Gene

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