| C22orf15 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C22orf15 , N27C7-3, chromosome 22 open reading frame 15 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2685713 HomoloGene: 122921 GeneCards: C22orf15 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C22orf15 (Chromosome 22 Open Reading Frame 15) is a protein which, in humans, is encoded by the C22orf15 gene.
The locus of C22orf15 in humans is on the long arm (q) of chromosome 22 in region 11, band 23 (22q11.23); it spans 3,340 base pairs on the plus strand from base pair 23,762,523 to 23,765,863 and contains ten introns and six exons. [5] [6]
C22orf15 is transcribed into 23 transcripts in Homo sapiens. [7]
| Transcript | Length (base pairs) | Protein | Length (amino acid) | Isoform |
|---|---|---|---|---|
| XM_024452160.1 | 1818 | XP_024307928.1 | 243 | X9 |
| XM_011529908.2 | 1718 | XP_011528210.2 | 210 | X13 |
| XM_024452161.1 | 1796 | XP_024307929.1 | 236 | X10 |
| XM_017028612.1 | 1702 | XP_016884101.1 | 205 | X14 |
| NM_001376903.1 | 881 | NP_001363832.1 | 142 | 3 |
| NM_001376904.1 | 800 | NP_001363833.1 | 115 | 4 |
| NM_001331041.2 | 900 | NP_001317970.1 | 157 | 2 |
| NM_001376905.1 | 790 | NP_001363834.1 | 113 | 5 |
| NM_182520.3 | 895 | NP_872326.2 | 148 | 1 |
| XM_017028605.1 | 2012 | XP_016884094.1 | 280 | X5 |
| XM_017028613.1 | 1558 | XP_016884102.1 | 185 | X15 |
| XM_017028602.1 | 2081 | XP_016884091.1 | 303 | X2 |
| XM_017028606.1 | 1818 | XP_016884095.1 | 273 | X7 |
| XM_017028608.1 | 1737 | XP_016884097.1 | 246 | X8 |
| XM_017028604.1 | 2021 | XP_016884093.1 | 283 | X4 |
| XM_024452158.1 | 2090 | XP_024307926.1 | 306 | X1 |
| XM_017028611.1 | 1658 | XP_016884100.1 | 227 | X11 |
| XM_011529907.2 | 1997 | XP_011528209.1 | 275 | X6 |
| XM_017028614.1 | 1543 | XP_016884103.1 | 180 | X16 |
| EXM_024452162.1 | 1537 | XP_024307930.1 | 178 | X17 |
| XM_024452159.1 | 2069 | XP_024307927.1 | 299 | X3 |
| XM_011529912.2 | 1838 | XP_011528214.1 | 222 | X12 |
| XM_017028618.1 | 684 | XP_016884107.1 | 105 | X20 |
C22orf15 has two upstream promoter regions. GXP_9794292 is 1040 base pairs in length spanning from base pair 23,758,601 to 23,759,640 on chromosome 22, while GXP_6747563 is 1740 base pairs spanning from base pair 23,761,523 to 23,763,262. The transcription start region is located at base pair 23,762,523. [8]
The post-translational modifications of C22orf15, which include phosphorylation, O-GlcNAcylation, and SUMOylation, are annotated on the conceptual translation.
C22orf15 in humans is 148 amino acids in length. The molecular weight of human C22orf15 is 17 kdal, and the isoelectric point is 9.0. C22orf15 does not have any unusually high or low amino acid compositions compared to other proteins in humans. [9]
The interleukin 2 receptor subunit gamma (II2rg) domain, which spans from amino acids 2-102 in C22orf15, facilitates the creation of the common gamma chain protein. This protein is a component of various receptors that aid in immune system function. These receptors direct and regulate the growth of lymphocytes, T cells, B cells, and natural killer cells, which promote immune response. [11] [12] [13]
The protein structure prediction tool I-TASSER predicts C22orf15 to have both an alpha helical and beta strand structure; there are three disordered regions present in the protein. [14]
C22orf15 is ubiquitously expressed at a low level with some variability among tissues. C22orf15 is expressed highest in the adrenal glands, salivary glands, trachea, heart, spinal cord, and skeletal muscle tissues. [15] [16]
In an anti-C22orf15 antibody produced in rabbits, immunochemical staining shows strong cytoplasmic positivity in the glandular cells of the human colon. [18]
C22orf15 is localized in both the nucleus and cytoplasm. Antibody staining of glandular cells in the human colon shows strong cytoplasmic positivity. However, as seen on the conceptual translation, C22orf15 has conserved nuclear localization signals that would suggest nuclear localization as well. [19]
Orthologous sequences to C22orf15 in humans are found in mammals, aves, reptiles, amphibians, and fishes as seen in the C22orf15 orthologs table. C22orf15 has no paralogs and is not present in invertebrates (Porifera, Platyhelminthes, Nematoda, Annelida, Echinodermata, Mollusca, Arthropoda), fungi, or bacteria; the gene appears to have originated in cartilaginous fishes approximately 473 million years ago. [20]
The slope of the trendline for C22orf15 more closely resembles the slope of the trendline for fibrinogen alpha chain, which evolves rapidly, as opposed to the slope of the trendline for cytochrome c, which evolves slowly. This signifies that C22orf15 is evolving rapidly, but not as rapidly as fibrinogen alpha chain.
There appears to be a linkage between C22orf15 and both gastric and breast cancers. A copy number loss of DNA region 22q11.23, which includes C22orf15, has been linked to chromosomal instability (CIN)-positive aneuploid gastric cancer. [21] DNA region 22q11.23 is also significantly more prevalent in basal-like BRCA1-mutated tumors compared to nonmutated wild-type BRCA1 tumors. [22] Additionally, C22orf15 is highly differentially expressed in breast cancer cells compared to unaffected mammary epithelial cells. [23]
Tetralogy of Fallot, a birth defect that alters normal blood flow through the heart, is a disease associated with C22orf15. [24] [25] Survival rate of Nasopharyngeal carcinoma has been found to negatively correlate with the expression of six specific genes, including C22orf15. [26] C22orf15 has also been identified as one of the 40 novel protein biomarkers that are risk factors for incident atrial fibrillation. [27]
Phenotypes of patients with C22orf15 copy-number variants include intellectual disability, micrognathia, ventricular septal defect, and Tetralogy of Fallot. [28]
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 113 million base pairs and represents between 3.5 and 4% of the total DNA in cells.
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 84 million base pairs and represents between 2.5 and 3% of the total DNA in cells.
METTL26, previously designated C16orf13, is a protein-coding gene for Methyltransferase Like 26, also known as JFP2. Though the function of this gene is unknown, various data have revealed that it is expressed at high levels in various cancerous tissues. Underexpression of this gene has also been linked to disease consequences in humans.
Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, gene.
Chromosome 6 open reading frame 201, C6orf201, is a protein that in humans is encoded by the C6orf201 gene. In humans this gene encodes for a nuclear protein that is primarily expressed in the testis.
UPF0739 protein C1orf74 is a protein that in humans is encoded by the C1orf74 gene.
C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
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.
PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.
Chromosome 6 open reading frame 62 (C6orf62), also known as X-trans-activated protein 12 (XTP12), is a gene that encodes a protein of the same name. The encoded protein is predicted to have a subcellular location within the cytosol.
Chromosome 8 open reading frame 58 is an uncharacterised protein that in humans is encoded by the C8orf58 gene. The protein is predicted to be localized in the nucleus.
Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.
Chromosome 11 open reading frame 53 is a protein that in humans is encoded by the C11orf53 gene. Reduction in C11orf53 gene expression is associated with increased odds of occurrence of colorectal cancer. Specifically sequence variation (rs3802842) close to the C11orf53 gene locus that lowers the expression of C11orf53 has been observed in the colonic mucosal cells immediately adjacent to colon cancer tumors. C11orf53 downregulation aids in cells' ability to survive in acidic conditions, which are typical of the tumor microenvironment. CRISPR-Cas9 inactivation of C11orf53 in an acute myeloid leukemia cell line made the cells resistant to the BCL2 inhibitor Venetoclax, further supporting a role in cancer predisposition.
C11orf98 is a protein-encoding gene on chromosome 11 in humans of unknown function. It is otherwise known as c11orf48. The gene spans the chromosomal locus from 62,662,817-62,665,210. There are 4 exons. It spans across 2,394 base pairs of DNA and produces an mRNA that is 646 base pairs long.
Chromosome 5 open reading frame 22 (c5orf22) is a protein-coding gene of poorly characterized function in Homo sapiens. The primary alias is unknown protein family 0489 (UPF0489).
C4orf36 is a protein that in humans is encoded by the c4orf36 gene.
C1orf159 is a protein that in human is encoded by the C1orf159 gene located on chromosome 1. This gene is also found to be an unfavorable prognosis marker for renal and liver cancer, and a favorable prognosis marker for urothelial cancer.
Chromosome 20 open reading frame 144 (c20orf144) is a human protein-encoding gene. The human c20orf144 protein consists of 153 amino acids, with the first 150 amino acids being characterized as part of the Bcl-2 like protein of testis (Bclt) family.
