C17orf75

Last updated
C17orf75
Identifiers
Aliases C17orf75 , NJMU-R1, SRI2, chromosome 17 open reading frame 75
External IDs MGI: 1917841 HomoloGene: 11177 GeneCards: C17orf75
Orthologs
SpeciesHumanMouse
Entrez

64149

70591

Ensembl

ENSG00000108666

ENSMUSG00000057181

UniProt

Q9HAS0

Q9CYI0

RefSeq (mRNA)

NM_022344

NM_027472

RefSeq (protein)

NP_071739

NP_081748

Location (UCSC) Chr 17: 32.32 – 32.35 Mb Chr 11: 80.25 – 80.27 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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]

Contents

Gene

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]

RNA

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).

Protein

Structure

Diagram of the protein NJMU-R1's secondary structure and post-translational modifications. C17orf75 protein schematic.png
Diagram of the protein NJMU-R1's secondary structure and post-translational modifications.
Immunohistochemistry staining of the mouse cerebellum for the protein NJMU-R1 in green. Purkinje C17orf75.png
Immunohistochemistry staining of the mouse cerebellum for the protein NJMU-R1 in green.

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]

Post-Translational Modifications

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]

Tissue Localization

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]

Cellular Localization

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]

Expression Data

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.

Human C17orf75 orthologs in select species obtained from a BLASTP search using the human protein with accession number: NP_071739.2. C17orf75 Ortholog table.jpg
Human C17orf75 orthologs in select species obtained from a BLASTP search using the human protein with accession number: NP_071739.2.

Homology

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.

Protein Interactions

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]

Related Research Articles

<span class="mw-page-title-main">TSR3</span> Hypothetical human protein

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.

<span class="mw-page-title-main">METTL26</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">C10orf67</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">C17orf53</span>

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.

<span class="mw-page-title-main">C16orf46</span> Human gene

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.

<span class="mw-page-title-main">C15orf39</span>

C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.

<span class="mw-page-title-main">C19orf44</span> Mammalian protein found in Homo sapiens

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.

<span class="mw-page-title-main">C1orf122</span> Protein-coding gene in the species Homo sapiens

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.

<span class="mw-page-title-main">C17orf78</span> Mammalian protein found in Homo sapiens

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.

<span class="mw-page-title-main">C2orf72</span> Human protein encoding gene

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.

<span class="mw-page-title-main">C4orf36</span> Draft for page on C4orf36 gene/protein

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

<span class="mw-page-title-main">Chromosome 12 open reading frame 71</span> Protein encoded in humans by c12orf71 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.

<span class="mw-page-title-main">Chromosome 5 open reading frame 47</span> Human C5ORF47 Gene

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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000108666 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000057181 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ↑ "Entrez Gene: Chromosome 17 open reading frame 75" . Retrieved 2022-07-28.
  6. ↑ "C17orf75 chromosome 17 open reading frame 75 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  7. ↑ "C17orf75 Gene - GeneCards | NJMU Protein | NJMU Antibody". www.genecards.org. Retrieved 2022-07-30.
  8. 1 2 "C17orf75 chromosome 17 open reading frame 75 [Homo sapiens (human)] - Gene Expression - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  9. ↑ Navarro Negredo, Paloma; Edgar, James R.; Manna, Paul T.; Antrobus, Robin; Robinson, Margaret S. (2018-02-09). "The WDR11 complex facilitates the tethering of AP-1-derived vesicles". Nature Communications. 9 (1): 596. Bibcode:2018NatCo...9..596N. doi:10.1038/s41467-018-02919-4. ISSN   2041-1723. PMC   5807400 . PMID   29426865.
  10. ↑ "C17orf75 chromosome 17 open reading frame 75 [Homo sapiens (human)] - Genomic Regions - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  11. ↑ Ren, Jian; Wen, Longping; Gao, Xinjiao; Jin, Changjiang; Xue, Yu; Yao, Xuebiao (January 20, 2009). "DOG 1.0: illustrator of protein domain structures". Cell Research. 19 (2): 271–273. doi: 10.1038/cr.2009.6 . ISSN   1748-7838. PMID   19153597. S2CID   26835642.
  12. 1 2 "Brain tissue expression of C17orf75 - Summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-07-30.
  13. ↑ "protein Njmu-R1 [Homo sapiens] - Protein - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  14. 1 2 "PSORTII Tool" . Retrieved July 24, 2022.[ permanent dead link ]
  15. ↑ "I-TASSER server for protein structure and function prediction". zhanggroup.org. Retrieved 2022-07-30.
  16. ↑ Ferre, F.; Clote, P. (2006-07-01). "DiANNA 1.1: an extension of the DiANNA web server for ternary cysteine classification". Nucleic Acids Research. 34 (Web Server): W182–W185. doi:10.1093/nar/gkl189. ISSN   0305-1048. PMC   1538812 . PMID   16844987.
  17. ↑ "C17orf75 (human)". www.phosphosite.org. Retrieved 2022-07-30.
  18. ↑ "ExPASy - Sulfinator". web.expasy.org. Retrieved 2022-07-30.
  19. ↑ "NetOGlyc - 4.0 Tool". DTU Health Tech. Retrieved 2022-07-30.
  20. ↑ "GPI Prediction Server". mendel.imp.ac.at. Retrieved 2022-07-30.
  21. ↑ "Subcellular - C17orf75 - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2022-07-30.
  22. ↑ "GDS596 Large-scale analysis of the human transcriptome". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  23. ↑ "GDS4382 Colorectal cancer tumors". www.ncbi.nlm.nih.gov. Retrieved 2022-07-30.
  24. ↑ Chakraborty, Sanjukta; Khare, Sonal; Dorairaj, Syril Kumar; Prabhakaran, Venkatesh C.; Prakash, D. Ravi; Kumar, Arun (September 2007). "Identification of genes associated with tumorigenesis of retinoblastoma by microarray analysis". Genomics. 90 (3): 344–353. doi: 10.1016/j.ygeno.2007.05.002 . ISSN   0888-7543. PMID   17604597.
  25. ↑ Chakraborty, Sanjukta; Nagashri, M. N.; Mohiyuddin, S. M. Azeem; Gopinath, K. S.; Kumar, Arun (February 18, 2011). "Gene Expression Profiling of Oral Squamous Cell Carcinoma by Differential Display RT-PCR and Identification of Tumor Biomarkers". Indian Journal of Surgical Oncology. 1 (4): 284–293. doi:10.1007/s13193-011-0054-x. ISSN   0975-7651. PMC   3244262 . PMID   22693380.
  26. ↑ Navarro Negredo, Paloma; Edgar, James R.; Manna, Paul T.; Antrobus, Robin; Robinson, Margaret S. (2018-02-09). "The WDR11 complex facilitates the tethering of AP-1-derived vesicles". Nature Communications. 9 (1): 596. Bibcode:2018NatCo...9..596N. doi:10.1038/s41467-018-02919-4. ISSN   2041-1723. PMC   5807400 . PMID   29426865.
This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.