Tetratricopeptide repeat protein 37 (TTC37)
The protein contains 1564 amino acids for an estimated molecular weight of 175486 Da.
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). (updated: March 4, 2015)
Protein identification was indicated in the following studies:
- Goodman and co-workers. (2013) The proteomics and interactomics of human erythrocytes. Exp Biol Med (Maywood) 238(5), 509-518.
- Lange and co-workers. (2014) Annotating N termini for the human proteome project: N termini and Nα-acetylation status differentiate stable cleaved protein species from degradation remnants in the human erythrocyte proteome. J Proteome Res. 13(4), 2028-2044.
- Hegedűs and co-workers. (2015) Inconsistencies in the red blood cell membrane proteome analysis: generation of a database for research and diagnostic applications. Database (Oxford) 1-8.
- Bryk and co-workers. (2017) Quantitative Analysis of Human Red Blood Cell Proteome. J Proteome Res. 16(8), 2752-2761.
- D'Alessandro and co-workers. (2017) Red blood cell proteomics update: is there more to discover? Blood Transfus. 15(2), 182-187.
- Chu and co-workers. (2018) Quantitative mass spectrometry of human reticulocytes reveal proteome-wide modifications during maturation. Br J Haematol. 180(1), 118-133.
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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Biological Process
Exonucleolytic catabolism of deadenylated mRNA
Nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5'
Cellular Component
Cytoplasm
Cytosol
Nucleoplasm
Nucleus
Ski complex
Transcriptionally active chromatin
Molecular Function
The reference OMIM entry for this protein is 222470
Trichohepatoenteric syndrome 1; thes1
The syndrome
Diarrhea, syndromic
Diarrhea, fatal infantile, with trichorrhexis nodosa
A number sign (#) is used with this entry because of evidence that trichohepatoenteric syndrome-1 (THES1) is caused by homozygous or compound heterozygous mutation in the TTC37 gene (614589) on chromosome 5q15.
DESCRIPTION
Although the spectrum of phenotypic expression in trichohepatoenteric syndrome (THES) is broad, the characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhea in infancy requiring total parenteral nutrition, and immunodepression. Hepatic involvement contributes to the poor prognosis of affected patients (summary by Fabre et al., 2007). - Genetic Heterogeneity of Trichohepatoenteric Syndrome Trichohepatoenteric syndrome-2 (THES2; 614602) is caused by mutation in the SKIV2L gene (600478) on chromosome 6p21.3.CLINICAL FEATURES
Stankler et al. (1982) reported a seemingly 'new,' presumably autosomal recessive disorder in a sister and brother who died at 33 and 87 days of age, respectively, with severe unexplained diarrhea. Both were of low birth weight for dates and had large, low-set, simple ears, flat nasal bridge, and large mouth. Both had woolly, easily removed black hair showing an abnormality the authors dubbed 'trichorrhexis blastysis.' By scanning microscopy, the hairs showed projections at multiple sites arising from the convex surface of a kinked hair and suggesting buds (Gr. blastosis = bud). The hair had a low content of cystine and an abnormal content of several other amino acids. Both parents had normal hair microscopically and chemically. In both sibs, the diarrhea began in the third week of life and was preceded by excoriated buttocks. Both had galactosuria without galactosemia. At autopsy both had hepatic fibrosis and hemosiderosis and islet cell hyperplasia. Menkes disease (309400) and argininosuccinic aciduria (207900), which have somewhat similar findings in the hair, were excluded by chemical tests. Girault et al. (1994) reported 8 children with severe secretory diarrhea beginning in the first 6 months of life (less than 1 month in 6 cases). All were small for gestational age and had facial dysmorphism and woolly, easily removable hair with trichorrhexis nodosa. Two children were from consanguineous marriages. Diarrhea was refractive to therapy, including bowel rest. All patients had jejunal biopsies that showed total or subtotal villous atrophy, defective antigen-specific skin tests, and defective antibody responses despite normal serum immunoglobulin levels. Two patients had hepatic cirrhosis, and 3 children had mental retardation. At the time of the report, 5 patients had died between the ages of 2 and 5 years, 2 were fed enterally, and 1 continued to receive total parenteral nutrition. Barabino et al. (2004) reported follow-up of the patient dependent on parenteral nutrition reported by Girault et al. (1994). At age 6 years, she achieved intestinal autonomy with discontinuation of the parenteral nutrition. At age 14 years, she had mild psychomotor and pubertal delay. She had chronic malabsorptive diarrhea, hypoalbuminemia, iron-deficiency anemia, osteoporosis, and impaired intestinal permeability. Immunologic defect was still present, but no other infections were recorded. Verloes et al. (1997) used the term 'tricho-hepato-enteric syndrome' to describe the disorder in a brother and sister who were noted prenatally to have intrauterine growth retardation, hydramnios, and placental hyperplasia. Both had intractable dia ... More on the omim web site
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 222470 was added.