C17orf75 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | C17orf75 , NJMU-R1, SRI2, chromosome 17 open reading frame 75 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1917841 HomoloGene: 11177 GeneCards: C17orf75 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 17 open reading frame 75 is a protein that in humans is encoded by the C17orf75 gene. [5] C17orf75 is also known as SRI2 (sensitization to ricin complex subunit 2) and is a human protein encoding gene located at 17q11.2 on the complementary strand. [6] The protein this gene encodes is also known as NJMU-R1. [7] The C17orf75 gene is ubiquitously expressed at medium-low levels throughout the body and at slightly higher levels in the brain and testes. [8] This protein is thought to be part of a complex associated with golgin-mediated vesicle capture. [9]
The C17orf75 gene spans from position 32,328,441 to position 32,342,173 with a length of 13,733 nucleotides. The length after intron excision is 4,547 nucleotides, and the coding sequence is 1,191 nucleotides in length. C17orf75 has 10 exons. [10]
C17orf75 has 4 transcript isoforms: C17orf75 and 3 predicted isoforms which are C17orf75 transcript variant X1 (4,568 nucleotides in length), C17orf75 transcript variant X2 (4,449 nucleotides in length), and C17orf75 transcript variant X3 (4,464 nucleotides in length).
The primary isoform of the protein NJMU-R1 is 396 amino acids long. The theoretical isoelectric point for the protein NJMU-R1 is around 5, and its predicted molecular weight is around 44 kD. [13] This protein has a leucine zipper that is predicted to contribute to a coiled coil in the protein's folded structure. [14] The secondary structure of the protein is predicted to dominated by helices, with some beta sheets. [15] 3 potential disulfide bridge sites via cysteine residues are predicted in the protein. [16]
The protein NJMU-R1 has two experimentally determined serine phosphorylation sites near the N-terminus. [17] Predicted post-translational modifications include tyrosine sulfation, [18] O-linked glycosylation, [19] and GPI anchor attachment. [20]
Immunohistochemistry staining images show moderate protein levels throughout mouse brain tissues, but the Purkinje layer in the cerebellum shows a distinctly high level of protein concentration, especially as compared to the neighboring granular layer. There are also high protein concentrations in the circumventricular organs of the mouse brain. [12]
Within the cell, images have shown the protein to be clustered in the cytosol and near the Golgi apparatus. [21] The PSORTII tool also predicts that this protein is localized to the cytosol. [14]
RNA sequencing data shows that C17orf75 is expressed highly in the testes, brain, and at moderately elevated levels in the kidney and thyroid. [8] Microarray data shows that this gene is expressed ubiquitously in most tissues, with moderate-to-high expression in the brain and testes and moderate-to-low expression in all other tissues. [22]
Expression levels of C17orf75 are seen to be higher in colorectal [23] and other cancers, [24] [25] suggesting that C17orf75 may be a protooncogene or that there is another element of the gene's regulation that is causing these elevated levels.
The C17orf75 gene has orthologs as distantly related as amoeba and slime molds that are approximately 1,092,000,000 years old. It is seen in most animals that diverged since then, such as insects, though, notably, not Drosophila , marine vertebrates, marine invertebrates, 14 amphibians (only frogs/toads and caecilians), reptiles, birds, and mammals.
Research findings show that NJMU-R1 is predicted to be part of a trimer (with FAM91A1 [Family With Sequence Similarity 91 Member A1] and SRI1), as elicited through immunoprecipitation, fractionation, and mass spectrometry. This trimer has been proposed to promote the Golgi’s capture of vesicles, particularly vesicles involved with the AB toxin, ricin, as knockouts of C17orf75 lead to higher cell susceptibility to ricin. [26]
TSR3, or TSR3 Ribosome Maturation Factor, is a hypothetical human protein found on chromosome 16. Its protein is 312 amino acids long and its cDNA has 1214 base pairs. It was previously designated C16orf42.
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.
Chromosome 16 open reading frame 95 (C16orf95) is a gene which in humans encodes the protein C16orf95. It has orthologs in mammals, and is expressed at a low level in many tissues. C16orf95 evolves quickly compared to other proteins.
OCC-1 is a protein, which in humans is encoded by the gene C12orf75. The gene is approximately 40,882 bp long and encodes 63 amino acids. OCC-1 is ubiquitously expressed throughout the human body. OCC-1 has shown to be overexpressed in various colon carcinomas. Novel splice variant of this gene was also detected in various human cancer types; in addition to encoding a novel smaller protein, OCC-1 gene produces a non-protein coding RNA splice variant lncRNA.
Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human protein-coding gene. Several studies indicate a possible link between genetic polymorphisms of this and several other genes to chronic inflammatory barrier diseases such as Crohn's Disease and sarcoidosis.
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.
C17orf53 is a gene in humans that encodes a protein known as C17orf53, uncharacterized protein C17orf53. It has been shown to target the nucleus, with minor localization in the cytoplasm. Based on current findings C17orf53 is predicted to perform functions of transport, however further research into the protein could provide more specific evidence regarding its function.
Chromosome 16 open reading frame 46 is a protein of yet to be determined function in Homo sapiens. It is encoded by the C16orf46 gene with NCBI accession number of NM_001100873. It is a protein-coding gene with an overlapping locus.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Chromosome 19 open reading frame 44 is a protein that in humans is encoded by the C19orf44 gene. C19orf44 is an uncharacterized protein with an unknown function in humans. C19orf44 is non-limiting implying that the protein exists in other species besides human. The protein contains one domain of unknown function (DUF) that is highly conserved throughout its orthologs. This protein is most highly expressed in the testis and ovary, but also has significant expression in the thyroid and parathyroid. Other names for this protein include: LOC84167.
C11orf42 is an uncharacterized protein in homo sapiens that is encoded by the C11orf42 gene. It is also known as chromosome 11 open reading frame 42 and uncharacterized protein C11orf42, with no other aliases. The gene is mostly conserved in mammals, but it has also been found in rodents, reptiles, fish and worms.
C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.
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.
C2orf72 is a gene in humans that encodes a protein currently named after its gene, C2orf72. It is also designated LOC257407 and can be found under GenBank accession code NM_001144994.2. The protein can be found under UniProt accession code A6NCS6.
C4orf36 is a protein that in humans is encoded by the c4orf36 gene.
Chromosome 20 open reading frame 85, or most commonly known as C20orf85 is a gene that encodes for the C20orf85 Protein. This gene is not yet well understood by the scientific community.
bMERB domain containing 1 is a gene expressed in humans which has broad expression across the brain. This gene codes for bMERB1 domain-containing protein 1 isoform 1. It is predicted that this gene is involved in actin cytoskeleton regulation, microtubule regulation and glial cell migration.
Chromosome 4 open reading frame 50 is a protein that in humans is encoded by the C4orf50 gene. The protein localizes in the nucleus. C4orf50 has orthologs in vertebrates but not invertebrates
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 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.