Uncharacterized protein C2orf27 is a protein that in humans is encoded by the C2orf27A gene . Although its function is not clearly understood, through the use of bioinformatic analysis more information is being brought to light.
The mRNA is 1,222bp in length and is located at 2q21.2 with a total of five exons in Homo sapiens . [1] [2] Other sources list C2orf27B as a paralog but this is unlikely because both genes are located in the same place on chromosome 2. [3] It seems to be generally accepted that they are the same gene. [1] Other gene aliases include C2orf27 and chromosome 2 open reading frame 27A. The gene is surrounded upstream by POTEKP and downstream by ANKRD30BL.
The length of the C2orf27 protein sequence is 203 a.a. in length and has a molecular weight of 21.5 kDa with a pI of 5.13 in Homo sapiens. [4] [5] When taking into account the primate orthologs, the molecular weights range from 21.4 to 36.7 kDa with the isoelectric point ranging from 4.58 to 5.25. [6] [5] This gene is located in the nucleus of the cell and, it doesn't contain any transmembrane regions. [7] [8]
Looking at the motifs of the protein sequence, a few important ones are present. All of the repeat sequences are concentrated near the N-terminus of the protein and are highly conserved through all the orthologs.
| PGTA | LELE | PVPA | PPGTALEL / PPGSALEL | |
|---|---|---|---|---|
| Location 1 | P37-A40 | L41-E44 | P21-A24 | P36-L43 |
| Location 2 | P54-A57 | L86-E89 | P27-A30 | P75-L82 |
Post-translationally, there are multiple glycosylation sites scattered throughout the protein sequence, phosphorylation site positioned at S13, and a nuclear export signal located at L80 - V90, which also happens to be within a coiled coil region.
C2orf27 is ubiquitously expressed in most tissues but with increased expression in the brain, pancreas, kidneys, and testis. [9] [10]
The protein is said to interaction with another protein called ataxin-1 which was discovered by performing a two hybrid prey pooling (Y2H) approach. [11] They share the similar characteristics of being located in the nucleus of cells and are expressed in the brain.
The overall structure of this protein is predicted to be composed of both alpha-helices and beta-sheets. The majority of the alpha-helices fall on the N-terminus of the protein and the beta-sheets fall near the C-terminus of the protein. There is a sequence of four prolines located from P185 to P188 has the secondary structure of a type II polyproline helix.
This gene is found in primates but is also found at a very poor E-values in other mammals and organisms like fish, invertebrates, fungi, bacteria, or plants. The protein C2orf27, however, is strictly found only in primates like chimpanzees, gorillas, and baboons.
When comparing the mRNA of C2orf27A with the exclusion of primates, it is shown that there is a high similarity with a gene called neurobeachin (NBEA) NBEA. When taking a look at this connection between the two, it was found that NBEA was on a different reading frame than C2orf27A which already begins to rule out any similarity between the two. This was confirmed based upon the fact that when comparing both of these protein sequences, it resulted in a 44% similarity in a 1% query cover. These protein sequences are entirely different suggesting that their functions may not be similar. It was also discovered when comparing the alignment of the sequences, it was shown that a duplication event occurred between NBEA and C2orf27A. NBEA is present on chromosome 13 but a section of this mRNA corresponds, with a 96% similarity score, with exons one through four on C2orf27 of chromosome 2. [1] This may be an example of a gene duplication event.
Taking all of this into account, the duplication of NBEA into chromosome 2 to form C2orf27 may be the divergence point of the gene becoming strictly present in primates only.
C2orf27A has been found to be associated with nonsyndromic craniosynostosis, a premature fusion of the calvaria. There are two distinct subtypes of this disease and patients with a certain subtype present with an increase in the expression of certain genes characteristic of each subtype. There is subtype A which is associated with increased insulin-like growth factor expression, and subtype B which is associated with increased integrin expression. There is an increased expression of the gene C2orf27A shown in patients with the subtype B disease. [12]
Through a combination of a microarray assay and use of IPA software, C2orf27A has been found to be regulated by the hormone melatonin and linked with a role in cellular movement, the function and development of blood and bone marrow, and cell-mediated response of the immune system. [13]
The chimeric fusion of C2orf27A (exon 1) and NBEA (exon 37 and 38) was present in only ovarian cancer samples. [14]
Tetratricopeptide repeat 39A is a human protein encoded by the TTC39A gene. TTC39A is also known as DEME-6, KIAA0452, and c1orf34. The function of TTC39A is currently not well understood. The main feature within tetratricopeptide repeat 39A is the domain of unknown function 3808 (DUF3808), spanning almost the entire protein. KIAA0452 can also be seen as an isoform of TTC39A because of differences in genome sequence, but overlap in DUF domain.
Fibroblast growth factor receptor oncogene partner 2 (FGFR1OP2) was identified in a study on myeloproliferative syndrome (EMS). The study aimed to identify the partner genes to the fibroblast growth factor receptor 1 (FGFR1) involved in the syndrome. Using the 5'-RACE PCR technique, FGFR1OP2 was identified as a novel gene with no known function.
Family with Sequence Similarity 203, Member B (FAM203B) is a protein encoded by the FAM203B gene (8q24.3) in humans. While FAM203B is only found in humans and possibly non-human primates, its paralog, FAM203A, is highly conserved. The FAM203B protein contains two conserved domains of unknown function, DUF383 and DUF384, and no transmembrane domains. This protein has no known function yet, although the homolog of FAM203A in Caenorhabditis elegans (Y54H5A.2) is thought to help regulate the actin cytoskeleton.
Neuroblastoma breakpoint family, member 1, or NBPF1, is a protein that is encoded by the gene NBPF1 in humans. This protein is member of the neuroblastoma breakpoint family of proteins, a group of proteins that are thought to be involved in the development of the nervous system.
Hematopoietic SH2 Domain Containing (HSH2D) protein is a protein encoded by the hematopoietic SH2 domain containing (HSH2D) gene.
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 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.
Chromosome 1 open reading frame 112, is a protein that in humans is encoded by the C1orf112 gene, and is located at position 1q24.2. C1orf112 encodes for seventeen variants of mRNA, fifteen of which are functional proteins. C1orf112 has a determined precursor molecular weight of 96.6 kDa and an isoelectric point of 5.62. C1orf112 has been experimentally determined to localize to the mitochondria, although it does not contain a mitochondrial targeting sequence.
C2orf16 is a protein that in humans is encoded by the C2orf16 gene. Isoform 2 of this protein is 1,984 amino acids long. The gene contains 1 exon and is located at 2p23.3. Aliases for C2orf16 include Open Reading Frame 16 on Chromosome 2 and P-S-E-R-S-H-H-S Repeats Containing Sequence.
Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.
C22orf23 is a protein which in humans is encoded by the C22orf23 gene. Its predicted secondary structure consists of alpha helices and disordered/coil regions. It is expressed in many tissues and highest in the testes and it is conserved across many orthologs.
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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 169 (TMEM169) in humans is encoded by TMEM169 gene. The aliases of TMEM169 include FLJ34263, DKFZp781L2456, and LOC92691. TMEM169 has the highest expression in the brain, particularly the fetal brain. TMEM169 has homologs mammals, reptiles, amphibians, birds, fish, chordates and invertebrates. The most distantly related homolog of TMEM169 is Anopheles albimanus.
FAM120AOS, or family with sequence similarity 120A opposite strand, codes for uncharacterized protein FAM120AOS, which currently has no known function. The gene ontology describes the gene to be protein binding. Overall, it appears that the thyroid and the placenta are the two tissues with the highest expression levels of FAM120AOS across a majority of datasets.
Coiled-Coil Domain Containing 190, also known as C1orf110, the Chromosome 1 Open Reading Frame 110, MGC48998 and CCDC190, is found to be a protein coding gene widely expressed in vertebrates. RNA-seq gene expression profile shows that this gene selectively expressed in different organs of human body like lung brain and heart. The expression product of c1orf110 is often called Coiled-coil domain-containing protein 190 with a size of 302 aa. It may get the name because a coiled-coil domain is found from position 14 to 72. At least 6 spliced variants of its mRNA and 3 isoforms of this protein can be identified, which is caused by alternative splicing in human.
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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.