The Recombinant Human Uncharacterized protein C6orf201, also known as C6orf201, is a protein encoded by the C6orf201 gene located on chromosome 6 in humans . The term "uncharacterized" indicates that the precise function of this protein is not yet fully understood . Despite being uncharacterized, studies suggest its involvement in various cellular processes and its potential relevance in certain diseases . Less common names for C6orf201 include protein MGC87625, hypothetical protein LOC404220, OTTHUMP00000213693, and OTTHUMP00000213725 .
The C6orf201 gene is situated on chromosome 6. The protein it encodes belongs to the DUF4523 family (Pfam15023), a group of proteins with unknown functions found in mammals .
General Properties The longest protein variant in humans consists of 140 amino acids, with a molecular weight of 16.2 kDa and an isoelectric point of 10.88 . Predictions suggest that C6orf201 is a nuclear protein .
Modification and Structure C6orf201 contains multiple predicted PKC and CKII phosphorylation sites and a nuclear localization signal . The protein includes a conserved alpha helix and a conserved beta strand .
Protein Interactions C6orf201 interacts with proteins such as SRPK1, TMEM106B, and APP .
C6orf201 is primarily expressed in the testis of humans, mice, and rats . Microarray data supports its expression in the testis of both humans and mice .
C6orf201 is highly conserved among primates and moderately conserved in other mammals and some reptiles . Significant conservation in Mycoplasma gallinarum suggests a possible horizontal gene transfer event during its evolutionary history . There are no known paralogs or gene duplication events for C6orf201 .
Toxicology Studies Toxicology research has identified C6orf201 as one of the top 20 deregulated genes in monkeys exposed to welding fumes over extended periods .
Methylation Studies Studies investigating gene expression after the use of methylation inhibitors have included C6orf201 .
Lung Squamous Cell Carcinoma (LUSC) Research indicates that C6orf201 exhibits significant changes in methylation and gene expression in LUSC. Further studies are needed to understand its role in cells and tumors and its impact on the biological functions of LUSC .
Schizophrenia C6orf201 is near genes found to be related to schizophrenia .
| Property | SNP Location | All subjects | Cases | Controls |
|---|---|---|---|---|
| Missingness | chr1-22 | 0.0048 | 0.0041 | 0.0041 |
| chrX | 0.0082 | 0.0081 | 0.0082 | |
| PAR1 | 0.0082 | 0.0081 | 0.0082 | |
| chrY | 0.0010 | 0.0000 | 0.0020 | |
| MAF | chr1-22 | 0.212 | 0.213 | 0.212 |
| chrX | 0.241 | 0.241 | 0.240 | |
| PAR1 | 0.240 | 0.241 | 0.244 | |
| chrY | 0.218 | 0.252 | 0.181 |
| Chr. | Start | End | Distance | SNPs in cluster | SNPs with p<0.001 | Minimum p | RefSeq genes |
|---|---|---|---|---|---|---|---|
| 1 | 167,784,811 | 167,850,858 | 66,047 | 16 | 0 | 1.9E–03 | FMO3 FMO6 |
| 2 | 10,878,985 | 10,902,509 | 23,524 | 16 | 0 | 2.4E-02 | PDIA6 |
| 6 | 4,012,045 | 4,070,654 | 58,609 | 17 | 1 | 5.1E-04 | PECI C6orf146 C6orf201 |
| 6 | 30,052,958 | 30,154,225 | 101,267 | 22 | 0 | 8.4E-03 | HLA-A29.1 HCG9 ZNRD1 PPP1R11 RNF39 |
| 6 | 30,429,340 | 30,500,227 | 70,887 | 22 | 0 | 3.3E-03 | - |
| 6 | 32,447,818 | 32,497,626 | 49,808 | 15 | 0 | 4.2E-03 | BTNL2 |
| 7 | 31,322,276 | 31,375,664 | 53,388 | 22 | 8 | 1.4E-04 | LOC223075 CCDC129 |
| 11 | 126,178,796 | 126,246,694 | 67,898 | 15 | 0 | 5.9E-03 | KIRREL3 |
| 16 | 80,722,907 | 80,789,170 | 66,263 | 19 | 1 | 6.6E-04 | MPHOSPH6 |
| 18 | 49,714,826 | 49,774,618 | 59,792 | 19 | 5 | 3.4E-05 | - |
| 21 | 24,343,408 | 24,426,048 | 82,640 | 19 | 0 | 1.2E-03 | - |
| 21 | 43,307,905 | 43,360,473 | 52,568 | 22 | 0 | 5.8E-03 | PKNOX1 CBS |
Further research is essential to elucidate the precise biological functions of C6orf201, its role in various diseases, and its potential as a therapeutic target. Areas for future investigation include:
Functional Studies: Conducting experiments to determine the specific biochemical and cellular functions of C6orf201.
Disease Association Studies: Investigating the association of C6orf201 with various diseases, particularly lung squamous cell carcinoma and other cancers.
Protein Interaction Studies: Identifying and characterizing additional proteins that interact with C6orf201 to understand its role in cellular pathways.
Expression Regulation Studies: Examining the factors that regulate the expression of C6orf201 in different tissues and conditions.
Structural Studies: Determining the three-dimensional structure of C6orf201 to gain insights into its function and interactions.