Coiled-coil domain-containing protein 6 (CCDC6)
The protein contains 474 amino acids for an estimated molecular weight of 53291 Da.
No function (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.
- 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.
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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| Variant | Description |
|---|---|
| dbSNP:rs1053266 |
Biological Process
Molecular Function
Identical protein binding
SH3 domain binding
Structural constituent of cytoskeleton
The reference OMIM entry for this protein is 188550
Thyroid carcinoma, papillary
Papillary carcinoma of thyroid; pact; ptc; tpc
Familial nonmedullary thyroid cancer, papillary
Nonmedullary thyroid carcinoma, papillary
A number sign (#) is used with this entry because of evidence that papillary thyroid carcinoma is caused by a number of different genetic changes, particularly by chimeric oncogenes formed by fusion of the tyrosine kinase domain of a membrane receptor protein with the 5-prime terminal region of another gene. Oncogenic rearrangements involving the RET gene (164761) on chromosome 10 are found in about 35% of cases, and rearrangements involving the NTRK1 gene (191315) on chromosome 1 are involved in about 15% of cases (Pierotti et al., 1996). A susceptibility gene for familial nonmedullary thyroid carcinoma with or without cell oxyphilia (TCO; 603386) has been mapped to chromosome 19p. A susceptibility gene for familial nonmedullary thyroid carcinoma has been mapped to 2q21 (NMTC1; 606240).
DESCRIPTION
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases (summary by Vriens et al., 2009). The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; 155240). NMTC is classified into 4 groups: papillary, follicular (188470), Hurthle cell (607464), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a component of a familial cancer syndrome (e.g., familial adenomatous polyposis 175100, Carney complex 160980) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases. PTC is characterized by distinctive nuclear alterations including pseudoinclusions, grooves, and chromatin clearing (summary by Bonora et al., 2010). PTCs smaller than 1 cm are referred to as papillary microcarcinomas. These tumors have been identified in up to 35% of individuals at autopsy, suggesting that they may be extremely common although rarely clinically relevant. PTC can also be multifocal but is typically slow-growing with a tendency to spread to lymph nodes and usually has an excellent prognosis.CLINICAL FEATURES
Lote et al. (1980) identified 2 kindreds with 7 and 4 cases of papillary carcinoma in otherwise healthy, nonirradiated subjects. All grew up in 1 of 2 small fishing villages in northern Norway. The familial cases showed an earlier mean age at diagnosis (37.6 years) than did sporadic cases from the same region (52.8 years). Multiple endocrine adenomatosis, Gardner syndrome (175100), and arrhenoblastoma (see 138800) were excluded. Phade et al. (1981) described 3 affected sibs, of normal parents, with discovery of cancer at ages 12, 7, and 20 years. The authors found one other report of familial papillary carcinoma without polyposis coli, in a father and daughter, aged 40 and 12, respectively, at discovery (Lacour et al., 1973). The young age at occurrence and frequent bilateral involvement are characteristic of hereditary cancers. Stoffer et al. (1985, 1986) presented evidence for the existence of a familial form of papillary carcinoma of the thyroid, possibly inherited as an autosomal dominant. Four parents of patients with familial PACT had colon cancer and 5 other family members died of intraabdominal malignancy that was not further defined. Perkel et al. (1988) presented evidence suggesting a familial susceptibility factor in radiation-induced thyroid neoplasms. Grossman et al. (1995) identified 13 families with 30 individuals affected by familial nonmedullary thyroid cancer, which they abbr ... More on the omim web site
May 12, 2019: Protein entry updated
Automatic update: model status changed
Nov. 17, 2018: Protein entry updated
Automatic update: model status changed
Feb. 2, 2018: Protein entry updated
Automatic update: Uniprot description updated
Dec. 19, 2017: Protein entry updated
Automatic update: Uniprot description updated
Nov. 23, 2017: Protein entry updated
Automatic update: Uniprot description updated
Oct. 26, 2017: Protein entry updated
Automatic update: model status changed
March 16, 2016: Protein entry updated
Automatic update: OMIM entry 188550 was added.
Feb. 24, 2016: Protein entry updated
Automatic update: model status changed
Feb. 24, 2016: Protein entry updated
Automatic update: model status changed
Jan. 24, 2016: Protein entry updated
Automatic update: model status changed