Predicted structure
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Septin 4 is a protein that in humans is encoded by the gene SEPTIN4. [1] The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long. There are currently no experimental structures for the SEPTIN4 gene product with a sequence identity >90%.
Although SEPTIN4 is predicted to be an intracellular protein, its exact location is unknown. There is some confidence that the subcellular locations of SEPTIN4 include the cytosol, the nucleus, and mitochondrion. [2] C17orf47 contains a domain of unknown function DUF4655, which has a length characteristic of that DUF family [3] There are three predicted regions of low complexity in SEPTIN4. These regions of low complexity may contain stress-response related terms which involve flexible binding for specific functions. [4] There are three known polymorphic SNPs in SEPTIN4. There are 6 sites of post-translational modification supported by multiple records, according to Phosphosite.
The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long. There are currently no experimental structures for the SEPTIN4 gene product with a sequence identity >90%.
Sixty-eight other organisms, mostly mammals, have orthologs with SPETIN4.
There is positive differential mRNA and protein expression of SEPTIN4 in normal tissue of testis. [5] Specifically, nucleolar expression of the gene product occurs in the seminiferous ducts of the testis. [6] While SEPTIN4 is not currently associated with any diseases, several cases of carcinoids displayed strong SEPTIN4 expression via staining with HPA028424 antibody provided by Sigma-Aldrich. [7] Polyphen predicts C17orf47 variants to be benign. [8]
During a study on the endocytic system, a weak but specific association with SEPTIN4 in the regulation of endocytosis was found. Knockdown of SEPTIN4 caused decreased epidermal growth factor endocytosis as well as decreased transferrin endocytosis. In another experiment, knockdown of SEPTIN4 resulted in decreased infection of cells by vaccinia virus. [9]
Uncharacterized protein C1orf21, or 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.
NBEAL1 is a protein that in humans is encoded by the NBEAL1 gene. It is found on chromosome 2q33.2 of Homo sapiens.
Cilia And Flagella Associated Protein 206 (CFAP206) is a gene that in humans encodes a protein “DUF3508”. This protein has a function that is not currently very well understood. Other known aliases are “dJ382I10.1, UPF0704 Protein C6orf165.” In humans, the gene coding sequence is 56,501 base pairs long, with an mRNA of 2,215 base pairs, and a protein sequence of 622 amino acids. The C6orf165 gene is conserved in chimpanzee, rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, mosquito, frog, and more C6orf165 is rarely expressed in humans, with relatively high expression in brain, lungs (trachea) and testis. The molecular weight of UPF0704 is 71,193 Da and the PI is 6.38
C5orf34 is a protein that in humans is encoded by the C5orf34 gene (5p12).
C16orf96, or chromosome 16 open reading frame 96, is a protein in humans that is encoded by C16orf96 that is found on the 16th chromosome. In Homo sapiens, the protein is 1141 amino acids in length
C8orf48 is a protein that in humans is encoded by the C8orf48 gene. C8orf48 is a nuclear protein specifically predicted to be located in the nuclear lamina. C8orf48 has been found to interact with proteins that are involved in the regulation of various cellular responses like gene expression, protein secretion, cell proliferation, and inflammatory responses. This protein has been linked to breast cancer and papillary thyroid carcinoma.
Chromosome 10 open reading frame 35 (c10orf35) is a gene that in humans, encodes for a protein-binding, transmembrane protein. The protein contains the domain of unknown function 4605 (DUF4605) which belongs to the protein family pfam15378. This gene is located at locus 10q22.1.
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 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 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 21 Open Reading Frame 58 (C21orf58) is a protein that in humans is encoded by the C21orf58 gene.
C16orf82 is a protein that, in humans, is encoded by the C16orf82 gene. C16orf82 encodes a 2285 nucleotide mRNA transcript which is translated into a 154 amino acid protein using a non-AUG (CUG) start codon. The gene has been shown to be largely expressed in the testis, tibial nerve, and the pituitary gland, although expression has been seen throughout a majority of tissue types. The function of C16orf82 is not 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.
C15orf39 is a protein that in humans is encoded by the Chromosome 15 open reading frame 15 (C15orf39) gene.
Chromosome 3 open reading frame 67 or C3orf67 is a protein that in humans is encoded by the gene C3orf67. The function of C3orf67 is not yet fully understood.
C2orf81 is a human gene encoding protein c2orf81, which is predicted to have nuclear localization.
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 9 open reading frame 50 is a protein that in humans is encoded by the C9orf50 gene. C9orf50 has one other known alias, FLJ35803. In humans the gene coding sequence is 10,051 base pairs long, transcribing an mRNA of 1,624 bases that encodes a 431 amino acid protein.