| C11orf52 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C11orf52 , chromosome 11 open reading frame 52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1914202 HomoloGene: 12059 GeneCards: C11orf52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
| C11orf52 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | C11orf52 , chromosome 11 open reading frame 52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1914202 HomoloGene: 12059 GeneCards: C11orf52 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
C11orf52 is located on chromosome 11 at 11q23.1, starting at 111908620 and ending at 112064278. [5] C11orf52 spans 155658 base pairs and is orientated on the positive strand. Gene C11orf52 has a molecular weight of 14kDa and is a protein coding gene of 7,995 bp containing four exons. The coding region is made up of 1,168 bp. [6]
Genes HSPB2, CRYAB, OLAT, and PPIHP1 neighbor C11orf52 on chromosome 11.
C11orf52 is highly expressed in the thyroid, thalmus, pituitary, placenta, and prostate, kidney, heart, and skeletal muscles. [7] However, in estrogen receptor alpha-silenced MCF-7 breast cancer cells, it is expressed at an extremely low level compared to control tissues. [8]
There is only one variant of C11orf52 RNA. The mRNA sequence is 1,140 base pairs long. [6] There is an upstream stop codon located at nucleotides 65 – 67. The 23rd amino acid varies between threonine and arginine. [6]
The 123 amino acid chain is a domain of unknown function. [9] It has a molecular weight of 13,9 kDal and a predicted Isoelectric Point of 9.74 [6] C11orf52 is predicted to be targeted to the nucleus.
There are no isoforms of the protein encoded by C11orf52.
The LYS19-22 region is an external domain of the protein structure. [6]
There is only one member of the C11orf52 gene family and no splice isoforms can be found going back to Geospiza fortis - the most distantly related to Homo Sapiens C11orf52 sequence. Gene duplication first occurred approximately 324.5 million years ago in reptiles and birds. There are no paralogs for the C11orf52 gene.
| Species | Common Name | Accession # | Sequence Length | mRNA Identity % | Sequence Similarity % |
|---|---|---|---|---|---|
| Homo sapiens | Human | NP_542390.2 | 123 | 100 | 100 |
| Saimiri boliviensis boliviensis | Black-Capped Squirrel Monkey | XP_010332875.1 | 126 | 87 | 89 |
| Equus caballus | Horse | XP_001916914.1 | 124 | 82 | 82 |
| Oryctolagus cuniculus | European Rabbit | XP_002708495.1 | 126 | 75 | 83 |
| Erinaceus europaeus | European Hedgehog | XP_007539796.1 | 124 | 59 | 69 |
| Leptonychotes weddellii | Weddell Seal | XP_006733365.1 | 130 | 48 | 59 |
| Pelodiscus sinensis | Chinese Softshell Turtle | XP_006111270.1 | 123 | 44 | 59 |
| Anolis carolinensis | Carolina Anole | XP_008119278.1 | 125 | 42 | 57 |
| Alligator mississippiensis | American Alligator | XP_006271409.1 | 118 | 39 | 54 |
| Python bivittatus | Burmese Python | XP_007422684.1 | 160 | 38 | 59 |
| Haliaeetus albicilla | White-Tailed Eagle | XP_009915555.1 | 118 | 46 | 60 |
| Pseudopodoces humilis | Ground Tit | XP_005531117.1 | 118 | 46 | 58 |
| Cariama cristata | Red-legged Seriema | XP_009702852.1 | 118 | 44 | 58 |
| Apaloderma vittatum | Bar-tailed Trogon | XP_009868605.1 | 118 | 44 | 59 |
| Anas platyrhynchos | Mallard | XP_005030930.1 | 139 | 43 | 58 |
| Tinamus guttatus | White-throated tinamou | XP_010217725.1 | 118 | 42 | 57 |
| Ficedula albicollis | Collared Flycatcher | XP_005058859.1 | 122 | 38 | 52 |
| Geospiza fortis | Medium Ground Finch | XP_005427571.1 | 117 | 36 | 52 |
Unusual DNA methylation in the C11orf52 gene in some children can be attributed to prenatal smoke exposure. [10]
C11orf52 may also play a role in lung cancer. C11orf52 is expressed in the lungs and has been associated with increased phosphorylation in cell lung cancer tumors. There is evidence that phosphorylation mechanisms exist which enhance proteins and pathways which should have inhibited phosphorylation in order to prevent extreme proliferation. C11orf52 is one gene where the phosphorylation is significantly different between the cancerous cells and normal tissue. [11]
C11orf49 is a protein coding gene that in humans encodes for the C11orf49 protein. It is heavily expressed in brain tissue and peripheral blood mononuclear cells, with the latter being an important component of the immune system. It is predicted that the C11orf49 protein acts as a kinase, and has been shown to interact with HTT and APOE2.
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
Chromosome 12 Open Reading Frame 42 (C12orf42) is a protein-encoding gene in Homo sapiens.
Uncharacterized protein Chromosome 16 Open Reading Frame 71 is a protein in humans, encoded by the C16orf71 gene. The gene is expressed in epithelial tissue of the respiratory system, adipose tissue, and the testes. Predicted associated biological processes of the gene include regulation of the cell cycle, cell proliferation, apoptosis, and cell differentiation in those tissue types. 1357 bp of the gene are antisense to spliced genes ZNF500 and ANKS3, indicating the possibility of regulated alternate expression.
Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Chromosome 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.
Uncharacterized protein C16orf86 is a protein in humans that is encoded by the C16orf86 gene. It is mostly made of alpha helices and it is expressed in the testes, but also in other tissues such as the kidney, colon, brain, fat, spleen, and liver. For the function of C16orf86, it is not well understood, however it could be a transcription factor in the nucleus that regulates G0/G1 in the cell cycle for tissues such as the kidney, brain, and skeletal muscles as mentioned in the DNA microarray data below in the gene level regulation section.
Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.
Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.
C7orf50 is a gene in humans that encodes a protein known as C7orf50. This gene is ubiquitously expressed in the kidneys, brain, fat, prostate, spleen, among 22 other tissues and demonstrates low tissue specificity. C7orf50 is conserved in chimpanzees, Rhesus monkeys, dogs, cows, mice, rats, and chickens, along with 307 other organisms from mammals to fungi. This protein is predicted to be involved with the import of ribosomal proteins into the nucleus to be assembled into ribosomal subunits as a part of rRNA processing. Additionally, this gene is predicted to be a microRNA (miRNA) protein coding host gene, meaning that it may contain miRNA genes in its introns and/or exons.
Uncharacterized protein C17orf78 is a protein encoded by the C17orf78 gene in humans. The name denotes the location of the parent gene, being at the 78th open reading frame, on the 17th human chromosome. The protein is highly expressed in the small intestine, especially the duodenum. The function of C17orf78 is not well defined.
Chromosome 9 open reading frame 85, commonly known as C9orf85, is a protein in Homo sapiens encoded by the C9orf85 gene. The gene is located at 9q21.13. When spliced, four different isoforms are formed. C9orf85 has a predicted molecular weight of 20.17 kdal. Isoelectric point was found to be 9.54. The function of the gene has not yet been confirmed, however it has been found to show high levels of expression in cells of high differentiation.
C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.
C4orf36 is a protein that in humans is encoded by the c4orf36 gene.
TEKTIP1, also known as tektin-bundle interacting protein 1, is a protein that in humans is encoded by the TEKTIP1 gene.
Chromosome 12 open reading frame 71 (c12orf71) is a protein which in humans is encoded by c12orf71 gene. The protein is also known by the alias LOC728858.
Chromosome 13 Open Reading Frame 46 is a protein which in humans is encoded by the C13orf46 gene. In humans, C13orf46 is ubiquitously expressed at low levels in tissues, including the lungs, stomach, prostate, spleen, and thymus. This gene encodes eight alternatively spliced mRNA transcript, which produce five different protein isoforms.
Transmembrane protein 248, also known as C7orf42, is a gene that in humans encodes the TMEM248 protein. This gene contains multiple transmembrane domains and is composed of seven exons.TMEM248 is predicted to be a component of the plasma membrane and be involved in vesicular trafficking. It has low tissue specificity, meaning it is ubiquitously expressed in tissues throughout the human body. Orthology analyses determined that TMEM248 is highly conserved, having homology with vertebrates and invertebrates. TMEM248 may play a role in cancer development. It was shown to be more highly expressed in cases of colon, breast, lung, ovarian, brain, and renal cancers.
Chromosome 5 Open Reading Frame 47, or C5ORF47, is a protein which, in humans, is encoded by the C5ORF47 gene. It also goes by the alias LOC133491. The human C5ORF47 gene is primarily expressed in the testis.