CFAP20DC | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | CFAP20DC , chromosome 3 open reading frame 67, C3orf67, CFAP20 domain containing | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1926154 HomoloGene: 18873 GeneCards: CFAP20DC | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome 3 open reading frame 67 or C3orf67 is a protein that in humans is encoded by the gene C3orf67. [5] [6] The function of C3orf67 is not yet fully understood.
C3orf67 is located at 3p14.2 on the reverse strand ranging from 58716417 to 59050045 base pairs. [7] [5] The accession number is NP_001338459.1. [8]
The coding sequence is 402-2681 base pairs of 3135 base pairs, [7] making up 759 amino acids. [5] [8] C3orf67 has six validated isoforms. [5] Isoform one is the most complete with 16 exons. [7] C3orf67 weighs 84.35 kilodaltons. [9]
There are three functional domains identified for C3orf67 [10]
Several post-translational modifications have been predicted for C3orf67 in conserved regions using various bioinformatic prediction tools [11] [12] [13] [14] [15] [16] [17] [18]
The beginning of C3orf67 is predicted to consist of a series of beta strands and a couple alpha helices that coincide with the DUF667 domain. There are also alpha helices predicted in regions that correspond to the CM_mono2 and OCRE domains. [19] [20] [21]
The DUF667 region is predicted to form a tube-like structure from a series of beta sheets. [21]
There are no known paralogs of C3orf67.
Orthologs have been identified for C3orf67 in species ranging from fungus, plants, hemichordates, parasites, fish, reptiles, birds, invertebrates, and mammals.
Species | Common Name | Date of Divergence (MYA) | Accession Number | Sequence Length (aa) | % Identity |
Orbicella faveolata | Mountainous star coral | 824 | XP_020630732.1 / XP_020630739.1 | 849 | 32.20% |
Exaiptasia pallida | Pale anemone | 824 | XP_020899564.1 | 797 | 32.00% |
Acanthaster planci | Crown-of-thorns starfish | 684 | XP_022107809.1 | 976 | 31.60% |
Stylophora pistillata | Smooth cauliflower coral | 824 | XP_022782397.1 | 825 | 30.80% |
Crassostrea gigas | Pacific oyster | 797 | XP_011453705.1 | 950 | 29.50% |
Lingula anatina | Lamp shell | 797 | XP_013404893.1 | 1077 | 29.30% |
Octopus bimaculoides | California two-spotted octopus | 797 | XP_014778712.1 | 902 | 29.10% |
Saccoglossus kowalevskii | Acorn worm | 684 | XP_006821003.1 | 596 | 23.30% |
Amphimedon queenslandica | Sponge | 951.8 | XP_011402616.1 | 508 | 22.70% |
Species | Common Name | Date of Divergence (MYA) | Accession Number | Sequence Length (aa) | % Identity |
Trichinella spiralis | Trichina worm | 797 | XP_003374081.1 | 393 | 12.60% |
Spizellomyces punctatus | Unknown | 1105 | XP_016608387.1 | 183 | 8.20% |
Selaginella moellendorffii | Spikemoss | 1496 | XP_002989784.1 | 209 | 6.00% |
The promoter is well conserved across humans, gibbons, baboons, orangutans, cats, squirrels, alpacas, rabbits and mice. [22] There are several high quality transcription factor binding sites. [23] There are also several stem-loop structures that are predicted to be formed in the promoter region, some of which overlap with transcription factor binding sites. [24]
C3orf67 is prominently expressed in the liver, tonsils, trachea, ovaries, testis, placenta, and colon. In other tissues it is expressed at low levels. [25] An increase in expression has been linked to small cell lung cancer. [26]
The protein has been identified as one of seventeen (17) genes that may play a novel role in the intersection of tumor promotion and DNA-damaging stress and may be linked to carcinogenesis. [27]
There are three notable transcription factors that are known to be involved in the regulation of cell growth or immune responses:
Several other proteins have been predicted to interact with C3orf67:
Protein YIF1A is a Yip1 domain family proteins that in humans is encoded by the YIF1A gene.
UPF0687 protein C20orf27 is a protein that in humans is encoded by the C20orf27 gene. It is expressed in the majority of the human tissues. One study on this protein revealed its role in regulating cell cycle, apoptosis, and tumorigenesis via promoting the activation of NFĸB pathway.
Uncharacterized protein C1orf21, also known as Proliferation-Inducing Protein 13, is a protein that in humans is encoded by the C1orf21 gene. C1orf21 is an intracellular protein that flows between the nucleus and the cytoplasm in the cell. It has been linked with cell growth and reproduction and there has been strong links with various types of cancers. There are no paralogs for this gene, however, many conserved orthologs have been found in all invertebrates. C1orf21 has low to moderate level of expression in most tissues in humans, however, it has the most expression in the skin, lung and prostate.
Transmembrane protein 242 (TMEM242) is a protein that in humans is encoded by the TMEM242 gene. The tmem242 gene is located on chromosome 6, on the long arm, in band 2 section 5.3. This protein is also commonly called C6orf35, BM033, and UPF0463 Transmembrane Protein C6orf35. The tmem242 gene is 35,238 base pairs long, and the protein is 141 amino acids in length. The tmem242 gene contains 4 exons. The function of this protein is not well understood by the scientific community. This protein contains a DUF1358 domain.
Ankyrin repeat domain-containing protein 24 is a protein in humans that is coded for by the ANKRD24 gene. The gene is also known as KIAA1981. The protein's function in humans is currently unknown. ANKRD24 is in the protein family that contains ankyrin-repeat domains.
Glutamate Rich Protein 2 is a protein in humans encoded by the gene ERICH2. This protein is expressed heavily in male tissues specifically in the testes, and proteins are specifically found in the nucleoli fibrillar center and the vesicles of these testicular cells. The protein has multiple protein interactions which indicate that it may play a role in histone modification and proper histone functioning.
Uncharacterized protein C2orf73 is a protein that in humans is encoded by the C2orf73 gene. The protein is predicted to be localized to the nucleus.
CRACD-like protein. previously known as KIAA1211L is a protein that in humans is encoded by the CRACDL gene. It is highly expressed in the cerebral cortex of the brain. Furthermore, it is localized to the microtubules and the centrosomes and is subcellularly located in the nucleus. Finally, CRACDL is associated with certain mental disorders and various cancers.
Zinc finger CCHC-type containing 18 (ZCCHC18) is a protein that in humans is encoded by ZCCHC18 gene. It is also known as Smad-interacting zinc finger protein 2 (SIZN2), para-neoplastic Ma antigen family member 7b (PNMA7B), and LOC644353. Other names such as zinc finger, CCHC domain containing 12 pseudogene 1, P0CG32, ZCC18_HUMAN had been used to describe this protein.
Transmembrane protein 171 (TMEM171) is a protein that in humans is encoded by the TMEM171 gene.
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.
Chromosome X Open Reading Frame 38 (CXorf38) is a protein which, in humans, is encoded by the CXorf38 gene. CXorf38 appears in multiple studies regarding the escape of X chromosome inactivation.
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.
Transmembrane protein 155 is a protein that in humans is encoded by the TMEM155 gene. It is located on human chromosome 4, spanning 6,497 bases. It is also referred to as FLJ30834 and LOC132332. This protein is known to be expressed mainly in the brain, placenta, and lymph nodes and is conserved throughout most placental mammals. The function and structure of this protein is still not well understood, but its level of expression has been studied pertaining to various pathologies.
Chromosome 1 open reading frame 185, also known as C1orf185, is a protein that in humans is encoded by the C1orf185 gene. In humans, C1orf185 is a lowly expressed protein that has been found to be occasionally expressed in the circulatory system.
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.
SH3 Domain Binding Kinase Family Member 3 is an enzyme that in humans is encoded by the SBK3 gene. SBK3 is a member of the serine/threonine protein kinase family. The SBK3 protein is known to exhibit transferase activity, especially phosphotransferase activity, and tyrosine kinase activity. It is well-conserved throughout mammalian organisms and has two paralogs: SBK1 and SBK2.
Transmembrane protein 247 is a multi-pass transmembrane protein of unknown function found in Homo sapiens encoded by the TMEM247 gene. Notable in the protein are two transmembrane regions near the c-terminus of the translated polypeptide. Transmembrane protein 247 has been found to be expressed almost entirely in the testes.
Synaptosome-associated protein, 47 kDal (SNAP47) is a human protein encoded by the SNAP47 gene. Other aliases of this gene are SVAP1, HEL170, ESFI5812, and HEL-S-290. SNAP47 is a synaptosome protein which is associated with the protein coding in multiple diseases, including non small cell lung cancer and schizophrenia. SNAP47 is a member of the SNAP protein family. SNAP proteins are t-snare proteins that are a component of SNARE complex. The SNARE complex mediates vesicle fusion by creating tight complex that brings vesicle and membrane together. This protein causes ubiquitous expression in testis, ovary, and many other tissues