Chromosome 1 open reading frame 186 (C1orf186) is the protein encoding the regulation of hemoglobinization and erythroid cell expansion(RHEX) gene. [1]
Chromosome 1 open reading frame 186 (C1orf186) is the protein encoding the regulation of hemoglobinization and erythroid cell expansion(RHEX) gene. [1]
C1orf186 has a cytogenetic location of 1q32.1, contains one transmembrane domain located near the beginning of the translated region, and 7 exons. The gene spans 1205 base pairs. [2]
C1orf186 has an estimated molecular weight of 19.4 kDa, and a theoretical pI of 4.76. [3] It is targeted by erythropoietin signaling, which controls erythroid cell expansion and the final stages of erythroblast development.
C1orf186 is predicted to have a large alpha helix at the beginning of the translated region, and 4 beta strands towards the end. [4]
In humans, RHEX is highly expressed in the kidney and lymph tissues with lower, but still significant expression in the pancreas, liver, and lungs. [5] According to Human Protein Atlas, the highest expression is found in the cervix in females and the seminal vesicles in males. [6]
Human Protein Atlas predicts C1orf186 expression to be localized to the plasma membrane. [7] There are 3 phosphorylation sites found within the translated region of the C1orf186 protein, which are involved in signal transduction pathways. [8]
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Non-mammalian orthologs have been found in alligators, turtles, and flighted and flightless birds. C1orf186 has mammalian orthologs found most distantly in marsupials. There are no known paralogs of C1orf186 within humans.
| Scientific Name | Common Name | Median Date of Divergence(MYA) | Sequence Length(aa) | Percent Similarity to Human | Percent Identity to Human |
|---|---|---|---|---|---|
| Homo sapiens | Humans | 0 | 172 | 100 | 100 |
| Carlito syrichta | Philippine Tarsier | 69 | 172 | 77.9 | 68.6 |
| Delphinapterus leucas | Beluga Whale | 94 | 172 | 76.7 | 66.9 |
| Rhinolophus sinicus | Chinese Rufous Horseshoe Bat | 94 | 175 | 77.1 | 65.1 |
| Monodelphis domestica | Grey Short-Tailed Opposum | 160 | 202 | 45.7 | 31.9 |
| Gallus gallus | Red Junglefowl | 319 | 159 | 36.5 | 25.4 |
| Apteryx rowi | Okarito Kiwi | 319 | 148 | 39.6 | 27.1 |
| Dermochelys coriacea | Leatherback Sea Turtle | 319 | 65 | 23.3 | 16.3 |
| Alligator mississippiensis | American Alligator | 319 | 62 | 23.3 | 16.3 |
3 phosphorylation sites were experimentally determined, further indicating C1orf186's involvement in differentiation and protein-protein interactions. [9] An N-myristoylation site has also been identified towards the beginning of the protein's translated region.
SH3GL1: C1orf186 was found to interact with SH3GL1, and as SH3GL1 is implicated in endocytosis helps to point towards a subcellular localization of the plasma membrane for C1orf186. This interaction was determined via two-hybrid assay from an IMEx database. [10]
JP-1: C1orf186 was determined to interact with JP-1 via affinity chromatography from a BioGrid database. [11] JP-1 helps to form junctional membrane complexes.
Duplications of C1orf186 is associated with slopes of cognitive decline as well as increased cognitive resilience among individuals with Alzheimer's Disease. [12]
The most variant of the RHEX gene includes an insertion and deletion mutation identified by NCBI as variant rs555500075, and occurs within 43.8% of the sampled genes containing this variation. [13]
Interferon-inducible GTPase 5 also known as immunity-related GTPase cinema 1 (IRGC1) is an enzyme that in humans is coded by the IRGC gene. It is predicted to behave like other proteins in the p47-GTPase-like and IRG families. It is most expressed in the testis.
Zinc finger protein 684 is a protein that in humans is encoded by the ZNF684 gene.
Transmembrane Protein 176B, or TMEM176B is a transmembrane protein that in humans is encoded by the TMEM176B gene. It is thought to play a role in the process of maturation of dendritic cells.
Trinucleotide repeat containing 18 is a protein that in humans is encoded by the TNRC18 gene.
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 C12orf60 is a protein that in humans is encoded by the C12orf60 gene. The gene is also known as LOC144608 or MGC47869. The protein lacks transmembrane domains and helices, but it is rich in alpha-helices. It is predicted to localize in the nucleus.
UPF0575 protein C19orf67 is a protein which in humans is encoded by the C19orf67 gene. Orthologs of C19orf67 are found in many mammals, some reptiles, and most jawed fish. The protein is expressed at low levels throughout the body with the exception of the testis and breast tissue. Where it is expressed, the protein is predicted to be localized in the nucleus to carry out a function. The highly conserved and slowly evolving DUFF3314 region is predicted to form numerous alpha helices and may be vital to the function of the protein.
Chromosome 18 open reading frame 63 is a protein which in humans is encoded by the C18orf63 gene. This protein is not yet well understood by the scientific community. Research has been conducted suggesting that C18orf63 could be a potential biomarker for early stage pancreatic cancer and breast cancer.
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.
C2orf74, also known as LOC339804, is a protein encoding gene located on the short arm of chromosome 2 near position 15 (2p15). Isoform 1 of the gene is 19,713 base pairs long. C2orf74 has orthologs in 135 different species, including primarily placental mammals and some marsupials.
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.
C12orf29 is a protein that in humans is encoded by chromosome 12 open reading frame 29. The gene is ubiquitously expressed in various tissues. The protein has 325 amino acids. The biological process of C12orf29 has been annotated as hematopoietic progenitor cell differentiation. The molecular and cellular functions of C12orf29 gene have not yet well understood by the scientific community.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
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.
Maestro heat-like repeat-containing protein family member 9 (MROH9) is a protein which in humans is encoded by the MROH9 gene. The word ‘maestro’ itself is an acronym, standing for male-specific transcription in the developing reproductive organs (MRO). MRO genes belong to the MROH family, which includes MROH9.
Transmembrane protein 271, or TMEM271 is a protein in Homo sapiens encoded by the TMEM271 gene, located at 4p16.3 on the minus strand. The protein is located on the plasma membrane of cells and highly expressed in several regions of the brain.
Highly Expressed In Immature Dendritic Cell Transcript 1 (HIDE1) is a protein encoded by chromosome 19 open reading frame 38 (C19orf38) gene in humans. There are no other aliases used for the gene. C19orf38 is only expressed in white blood cells, of the innate immune system. HIDE1 protein has been found to play a role in immune escape of tumors and diet induced obesity.
C6orf118 is a protein in humans, which is encoded by the C6orf118 gene. The protein domain, translin-associated factor X-interacting N-terminus (TRAX), is involved in RNA binding and RNA nuclease activity and in the regulation of mitochondrial function and cellular homeostasis. TRAX interacts with translin, a DNA-binding protein that binds to consensus sequences at breakpoint junctions of chromosomal translocation. TRAX in general contains bipartite nuclear targeting sequences, which may provide nuclear transport for translin, as translin lacks any nuclear targeting motifs. This protein is localized to the mitochondria.
C15orf62 is a protein which in humans is encoded by the C15orf62 gene. The protein displays high levels of expression in the esophagus and skin of human tissue. C15orf62 is a regulatory protein involved in mitochondrial function and cytoskeletal organization, playing roles in ribosomal biogenesis, Rho protein signal transduction, and protein turnover through ubiquitination. It connects mitochondrial activity to cell structure, signaling, and biogenesis through its unique amino acid composition and post-translational modifications.