C17orf50 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | C17orf50 , chromosome 17 open reading frame 50 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1913580 HomoloGene: 11949 GeneCards: C17orf50 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 gene.
The gene is located on the long arm of chromosome 17 on the forward strand [5] at position 17q12. C17orf50 spans 4,200 base pairs from 35,760,897 to 35,765,079. In humans, this gene encodes a protein that is 174 amino acids in length [6] and has three exons. [7]
The promoter region for C17orf50 is 1417 base pairs long with an accession number of GXP_123003 from Genomatix. [8] The first half of the promoter is poorly conserved even among primates. [9] [10] [11]
There are many binding sites for transcription factors found in the brain and embryonic tissue, [8] particularly Brn-5 POU domain factor, which has three binding sites within the conserved region of the promoter. This transcription factor is expressed in layer IV of the neocortex of adults and at its highest levels in the developing brain and spinal cord. [12]
Orthologs of this gene exist in eukaryotes, predominantly in mammals. [9] However, some homologs are present in birds, reptiles, and amphibians. There are no paralogs of this gene. The table below shows a short list of orthologs to trace the evolutionary history of C17orf50.
Species | Accession number | Divergence from humans (MYA) [13] | Identity |
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Homo sapiens | NP_660315 | 0 | 100% |
Chlorocebus sabaeus | XP_008009267 | 29.44 | 85% |
Mus musculus | NP_079768.2 | 90 | 68% |
Pteropus vampyrus | XP_011385558 | 171 | 70% |
Chelonia mydas | EMP28888 | 312 | 45% |
Corvus brachyrhynchos | XP_017584321 | 312 | 44% |
Anolis carolinensis | XP_003218353 | 312 | 37% |
Xenopus tropicalis | OCA35560 | 352 | 46% |
The most distant ortholog found diverged from humans approximately 352 million years ago, indicating that the protein arose shortly before that. When compared to other proteins, namely cytochrome c and fibrinogen alpha chain, uncharacterized protein C17orf50 is a rapidly evolving protein.
C17orf50 is expressed at low levels in various tissues, such as lung, prostate, thymus, thyroid, trachea, small intestine, and stomach, and it is most highly expressed in the fetal brain. [14]
The unmodified molecular weight of C17orf50 protein is 19.3 kilodaltons. The protein has a negative charge cluster from position 21 to 52; this is a glutamate-rich region. [15] There are three nuclear localization signals with no other retention signals, strongly indicating that the protein is localized to the nucleus. [16]
Uncharacterized protein C17orf50 contains a domain of unknown function (DUF4673) from position 5 to 172, which makes up the majority of the protein. [7]
Uncharacterized protein C17orf50 contains two potential sumoylation sites at K7 and K12. [17] [18] There are possible threonine and serine glycosylation sites throughout the protein. [19] Potential threonine, serine, and tyrosine phosphorylation sites are also present. [20]
Uncharacterized protein C17orf50 has potential interactions with zinc finger protein 587(ZNF587), [21] [22] which is expressed throughout fetal tissue, including the brain, [23] ZNF587 is expected to regulate transcription. [24]
PRR29 is a protein located on human chromosome 17 that in humans is encoded by the PRR29 gene.
C14orf93 is a protein that is encoded in humans by the C14orf93 gene. It is a globular protein with a conserved C-terminus that is localized to the nucleus. While expressed relatively highly in all tissues except nervous tissue, it is expressed particularly highly in T cells and other immune tissues.
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.
Chromosome 19 open reading frame 18 (c19orf18) is a protein which in humans is encoded by the c19orf18 gene. The gene is exclusive to mammals and the protein is predicted to have a transmembrane domain and a coiled coil stretch. This protein has a function that is not yet fully understood by the scientific community.
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.
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.
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.
C16orf90 or chromosome 16 open reading frame 90 produces uncharacterized protein C16orf90 in homo sapiens. C16orf90's protein has four predicted alpha-helix domains and is mildly expressed in the testes and lowly expressed throughout the body. While the function of C16orf90 is not yet well understood by the scientific community, it has suspected involvement in the biological stress response and apoptosis based on expression data from microarrays and post-translational modification data.
Chromosome 1 Opening Reading Frame 94 or C1orf94 is a protein in human coded by the C1orf94 gene. The function of this protein is still poorly understood.
Leucine rich single-pass membrane protein 2 is a single-pass membrane protein rich in leucine, that in humans is encoded by the LSMEM2 gene. The LSMEM2 protein is conserved in mammals, birds, and reptiles. In humans, LSMEM2 is found to be highly expressed in the heart, skeletal muscle and tongue.
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.
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.
Chromosome 3 open reading frame 38 (C3orf38) is a protein which in humans is encoded by the C3orf38 gene.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
C22orf15 is a protein which, in humans, is encoded by the C22orf15 gene.
Zinc Finger Protein 548 (ZNF548) is a human protein encoded by the ZNF548 gene which is located on chromosome 19. It is found in the nucleus and is hypothesized to play a role in the regulation of transcription by RNA Polymerase II. It belongs to the Krüppel C2H2-type zinc-finger protein family as it contains many zinc-finger repeats.
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.