| TEDC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | TEDC1 , C14orf80, chromosome 14 open reading frame 80, tubulin epsilon and delta complex 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 2144738 HomoloGene: 77129 GeneCards: TEDC1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Uncharacterized protein C14orf80 is a protein which in humans is encoded by the chromosome 14 open reading frame 80, C14orf80, gene.
C14orf80 is located on chromosome 14 (14q32.33) starting at 105,489,855bp and ending at 105,499,248bp. C14orf80 is 9,393 base pairs long and contains 11 exons that can be alternatively spliced to form different mRNA variants. [5]
Transcription of C14orf80 can produce 19 mRNA splice variants. Only six of these nineteen variants are predicted to not encode for a protein. [6] Of the mRNA variants that have been found experimentally, the longest is 1,719 base pairs and produces a protein with 426 amino acids. [7]
C14orf80 has been determined to be expressed in 77 types of tissues and 100 developmental stages. [8] It has also been determined to have a higher level of expression in a few cases of pancreatic and prostate cancer cells compared to normal tissue. [9]
Using the BLAST program from NCBI, the orthologs of C14orf80 were found to range from primates to invertebrates. Below is a table that contains a variety of these orthologs. [11]
| Species | Common name | Accession number | Date of divergence | Sequence length (AA) | Sequence similarity |
|---|---|---|---|---|---|
| Homo sapiens | Human | NP_001128347 | 0 mya | 426 | 100% |
| Chlorocebus sabaeus | Green monkey | XP_007986247 | 29 mya | 424 | 94% |
| Ictidomys tridecemlineatus | 13-lined ground squirrel | XP_005334680 | 92.3 mya | 426 | 80% |
| Bos taurus | Cow | XP_003585026 | 94.2 mya | 419 | 78% |
| Rattus norvegicus | Brown rat | XP_002726827 | 92.3 mya | 420 | 76% |
| Zonotrichia albicollis | White-throated sparrow | XP_005493655 | 296 mya | 454 | 53% |
| Pelodiscus sinensis | Chinese softshell turtle | XP_006137260 | 296 mya | 404 | 51% |
| Xenopus tropicalis | Tropical clawed frog | XP_002935771 | 371.2 mya | 437 | 50% |
| Danio rerio | Zebra fish | XP_706561 | 400.1 mya | 452 | 41% |
| Camponotus floridanus | Florida carpenter ant | XP_011255960 | 782.7 mya | 374 | 38% |
When compared to the slow-evolving cytochrome C gene and the fast-evolving fibrinogen gene, gene C14orf80 is also fast-evolving. [11]
Uncharacterized protein C14orf80 is 426 amino acids long with a molecular weight of 47 kDa. [12] Its isoelectric point is 8.9. [13]
Uncharacterized protein C14orf80 is predicted to be entirely composed of alpha helices. [14] Using the program SOUSI-signal, it was predicted that uncharacterized protein C14orf80 does not contain a signal peptide and is a soluble protein. [15]
Uncharacterized protein C14orf80 has two functional domains. The first domain is the domain of unknown function 4509 and the second is the domain of unknown function 4510. As their naming states the functions of these domains are still unknown. [10]
DUF4509 is located at amino acid 45 to amino acid 228. In this domain of unknown function there is a conserved WLL sequence motif. [16]
DUF4510 is located at amino acid 263 to amino acid 425. In this domain of unknown function there are two conserved sequence motifs: LEA and WMD. [17]
Uncharacterized protein C14orf80 is predicted to have glycation and phosphorylation sites for post-translational modification. Of these sites three are for glycation, eight are for serine phosphorylation and one site is for threonine phosphorylation. [18] [19]
Uncharacterized protein C14orf80 is not predicted to be a transmembrane protein. It is mainly localized to the golgi apparatus but has been found in the nucleus and cytoplasm also. [20]
Currently, there are 21 proteins that are predicted to interact with uncharacterized protein C14orf80. These 21 proteins were found using the databases Mentha, [21] BioGRID, [22] STRING, [23] GeneCards [24] and IntAct. [25] Below is a table of a variety of these 21 proteins.
| Interacting protein | Full protein name | Function | Citation |
|---|---|---|---|
| DDIT3 | DNA-damage inducible transcript 3 | Induces cell cycle arrest and apoptosis when ER stress | [26] |
| CEBPZ | CCAAT enhancer binding protein | Stimulates transcription from HSP70 promoter | [26] |
| UBC | Ubiquitin C | Udeshi ND, Mani DR, Eisenhaure T, Mertins P, Jaffe JD, Clauser KR, Hacohen N, Carr SA (May 2012). "Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition". Molecular & Cellular Proteomics. 11 (5): 148–59. doi:10.1074/mcp.M111.016857. PMC 3418844 . PMID 22505724. | |
| FKBP5 | FK506 binding protein | Immunophilin protein with PPIase | Taipale M, Tucker G, Peng J, Krykbaeva I, Lin ZY, Larsen B, Choi H, Berger B, Gingras AC, Lindquist S (July 2014). "A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways". Cell. 158 (2): 434–448. doi:10.1016/j.cell.2014.05.039. PMC 4104544 . PMID 25036637. |
| DEF107A | Beta-defensin 107 | Anti-bacterial activity | [27] |
| XAGE1D | Cancer/testis antigen family 12 member 1D | [28] | |
| TRAK2 | Trafficking protein kinesin binding 2 | May regulate endosome to lysosome trafficking of membrane cargo | [29] |
| NRF1 | Nuclear respiratory factor 1 | Transcription factor on nuclear genes encoding respiratory subunits and components of the mitochondrial transcription and replication machinery | [30] |
Uncharacterized protein C14orf80 has been associated with tumors in the breast, CNS, endometrium, large intestine, lung, skin, and stomach. [31]
ABHD18 is a protein that in Homo sapiens is encoded by the ABHD18 gene.
Glutamate-rich protein 3, also known as Uncharacterized Protein C1orf173, is a protein encoded by the ERICH3 gene. ERICH3 was named “chromosome 1 open reading frame 173 (C1orf173)” based on its map location in the human genome. It was subsequently renamed “E-rich 3” as a result of the high content of glutamate (E) in its encoded amino acid sequence. Single-nucleotide polymorphisms (SNPs) in the ERICH3 gene has been identified as one of the "top" signals in a genome-wide association study (GWAS) for plasma serotonin concentrations which were themselves associated with selective serotonin reuptake inhibitor (SSRI) response in major depressive disorder (MDD) patients. The same ERICH3 SNP was later demonstrated that was significantly associated with SSRI treatment outcomes in three independent MDD trials, including STAR*D, ISPC and PReDICT. ERICH3 is most highly expressed in a variety of regions of the human brain, including the nucleus accumbens and frontal cortex based on the GTEx RNA-seq data. The single-cell RNA-seq data for human brain samples revealed that ERICH3 is predominantly expressed in neurons rather than other CNS cell types. ERICH3 was found interacts with proteins function in vesicle biogenesis and may play a significant role in vesicular function in serotonergic and other neuronal cell types, which might help explain its association with antidepressant treatment response. ERICH3 protein was also found abundant in blood platelets and cilia based on the proteomic studies. Its function in platelet was thought related to plasma serotonin storage because more than 99% of blood serotonin was stored in platelet and ERICH3 SNPs has been associated with plasma serotonin concentration in MDD patients. ERICH3 in primary cilia might regulates cilium formation and the localizations of ciliary transport.
Uncharacterized protein C1orf131 is a protein that in humans is encoded by the gene C1orf131. The first ortholog of this protein was discovered in humans. Subsequently, through the use of algorithms and bioinformatics, homologs of C1orf131 have been discovered in numerous species, and as a result, the name of the majority of the proteins in this protein family is Uncharacterized protein C1orf131 homolog.
C12orf40, also known as Chromosome 12 Open Reading Frame 40, HEL-206, and Epididymis Luminal Protein 206 is a protein that in humans is encoded by the C12orf40 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.
C6orf222 is a protein that in humans is encoded by the C6orf222 gene (6p21.31). C6orf222 is conserved in mammals, birds and reptiles with the most distant ortholog being the green sea turtle, Chelonia mydas. The C6orf222 protein contains one mammalian conserved domain: DUF3293. The protein is also predicted to contain a BH3 domain, which has predicted conservation in distant orthologs from the clade Aves.
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 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 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.
Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.
Cilia- and flagella-associated protein 299 (CFAP299), is a protein that in humans is encoded by the CFAP299 gene. CFAP299 is predicted to play a role in spermatogenesis and cell apoptosis.
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.
Tubulin epsilon and delta complex 2 (TEDC2), also known as Chromosome 16 open reading frame 59 (C16orf59), is a protein that in humans is encoded by the TEDC2 gene. Its NCBI accession number is NP_079384.2.
C7orf50 is a gene in humans that encodes a protein known as C7orf50. This gene is ubiquitously expressed in the kidneys, brain, fat, prostate, spleen, among 22 other tissues and demonstrates low tissue specificity. C7orf50 is conserved in chimpanzees, Rhesus monkeys, dogs, cows, mice, rats, and chickens, along with 307 other organisms from mammals to fungi. This protein is predicted to be involved with the import of ribosomal proteins into the nucleus to be assembled into ribosomal subunits as a part of rRNA processing. Additionally, this gene is predicted to be a microRNA (miRNA) protein coding host gene, meaning that it may contain miRNA genes in its introns and/or exons.
C14orf119 is a protein that in humans is encoded by the c14orf119 gene. The c14orf119 protein is predicted to be localized in the nucleus. Additionally, c14orf119 expression is decreased in individuals with systemic lupus erythematosus (SLE) when compared with healthy individual and is increased in individuals with various types of lymphomas when compared to healthy individuals.
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.
C6orf136 is a protein in humans encoded by the C6orf136 gene. The gene is conserved in mammals, mollusks, as well some porifera. While the function of the gene is currently unknown, C6orf136 has been shown to be hypermethylated in response to FOXM1 expression in Head Neck Squamous Cell Carcinoma (HNSCC) tissue cells. Additionally, elevated expression of C6orf136 has been associated with improved survival rates in patients with bladder cancer. C6orf136 has three known isoforms.
C4orf19 is a protein which in humans is encoded by the C4orf19 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.
