| C7orf31 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C7orf31 , chromosome 7 open reading frame 31 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 616071 MGI: 1918071 HomoloGene: 69433 GeneCards: C7orf31 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Chromosome Seven Open Reading Frame 31 (C7orf31) is a protein that in humans is encoded by the C7orf31 gene on chromosome seven. [5]
In humans, the C7orf31 gene is located at the locus 7p15.3 [5] and stretches between position 25174316 and 25219817 (span 45502 bp). [6] It codes for at least 4 unique human isoforms: the primary isoform (590 aa; also denoted X1, X2, and CRA_c), [7] [8] [9] isoform X4 (346 aa), [10] isoform CRA_a (580 aa), [11] and isoform CRA_b (380 aa). [12]
In humans, C7orf31 codes for an mRNA strand that is 3609 base pairs long. The human mRNA is composed of a 5' untranslated region that is 561 bases and a 3' untranslated region that is 1275 bases long. [13]
The primary protein encoded by C7orf31 in humans is 590 amino acids long with molecular weight 38334 Da. [5] The protein is part of a functionally uncharacterized family of proteins (pfam15093) with a domain of unknown function (DUF4555). [14]
The C7orf31 protein is well-conserved in mammals and birds, but is less conserved in more distant organisms. [15]
C7orf31 does not have any paralogs in humans.
In humans, C7orf31 is predicted to be localized in the cytosol, nucleus, mitochondrion, and peroxisome, and it is expressed in almost all tissues. [16] It is highly expressed especially in the testes. [17]
Two-hybrid studies have found interactions between the proteins encoded by A8K5H9 and C7orf31, [18] and another study has found the protein to interact with KBTBD5. [19]
A study in 2014 found C7orf31 to be a candidate as a centrosome-associated protein, using mass spectrometry on mammalian sperm cells’ centrioles. The protein appears in the study alongside seven other centrosome-associated protein candidates. [20] Along with 2241 other proteins, C7orf31 also exhibited significant binding in a microarray experiment to β-amyloids, a group of proteins associated with Alzheimer's disease. [21] Finally, in a protein-protein interaction network study, [22] C7orf31 was found to associate with KLHL40, whose exact function is also not known. [23]
C11orf49 is a protein coding gene that in humans encodes for the C11orf49 protein. It is heavily expressed in brain tissue and peripheral blood mononuclear cells, with the latter being an important component of the immune system. It is predicted that the C11orf49 protein acts as a kinase, and has been shown to interact with HTT and APOE2.
HIKESHI is a protein important in lung and multicellular organismal development that, in humans, is encoded by the HIKESHI gene. HIKESHI is found on chromosome 11 in humans and chromosome 7 in mice. Similar sequences (orthologs) are found in most animal and fungal species. The mouse homolog, lethal gene on chromosome 7 Rinchik 6 protein is encoded by the l7Rn6 gene.
Chromosome 20 open reading frame 111, or C20orf111, is the hypothetical protein that in humans is encoded by the C20orf111 gene. C20orf111 is also known as Perit1, HSPC207, and dJ1183I21.1. It was originally located using genomic sequencing of chromosome 20. The National Center for Biotechnology Information, or NCBI, shows that it is located at q13.11 on chromosome 20, however the genome browser at the University of California-Santa Cruz (UCSC) website shows that it is at location q13.12, and within a million base pairs of the adenosine deaminase locus. It was also found to have an increase in expression in cells undergoing hydrogen peroxide(H
2O
2)-induced apoptosis. After analyzing the amino acid content of C20orf111, it was found to be rich in serine residues.
Chromosome 9 open reading frame 152 is a protein that in humans is encoded by the C9orf152 gene. The exact function of the protein is not completely understood.
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.
Shortage In Chiasmata 1, also known as SHOC1, is a protein that in humans is encoded by the SHOC1 gene.
C11orf52 is an uncharacterized protein that in homo sapiens is encoded by the C11orf52 gene.
FAM71D, also known as chromosome 14 open reading frame 54 (C14orf54), is a protein that in humans is encoded by the FAM71D gene on Chromosome 14. Orthologs of FAM71D reach as far back in evolution to Reptiles, however, it is closer in homology to primates than any other orthologs. FAM71D has 6 paralogs: FAM71A, FAM71B, FAM71C, FAM71E1, FAM71F1, and FAM71F2 which encode a protein of unknown function.
Chromosome 12 Open Reading Frame 42 (C12orf42) is a protein-encoding gene in Homo sapiens.
Chromosome 1 open reading frame 162 is a protein that in humans is encoded by the C1orf162 gene. It has been found to be hypomethylated in instances of gastric cancer.
C21orf62 is a protein that, in humans, is encoded by the C21orf62 gene. C21orf62 is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. Additionally, C21orf62 is highly expressed in ovarian surface epithelial cells during normal regulation, but is not expressed in cancerous ovarian surface epithelial cells.
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 9 open reading frame 43 is a protein that in humans is encoded by the C9orf43 gene. The gene is also known as MGC17358 and LOC257169. C9orf43 contains DUF 4647 and a polyglutamine repeat region although protein function is not well understood.
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.
C12orf24 is a gene in humans that encodes a protein known as FAM216A. This gene is primarily expressed in the testis and brain, but has constitutive expression in 25 other tissues. FAM216A is an intracellular protein that has been predicted to reside within the nucleus of cells. The exact function of C12orf24 is unknown. FAM216A is highly expressed in Sertoli cells of the testis as well as different stage spermatids.
C22orf31 is a protein which in humans is encoded by the C22orf31 gene. The C22orf31 mRNA transcript has an upstream in-frame stop codon, while the protein has a domain of unknown function (DUF4662) spanning the majority of the protein-coding region. The protein has orthologs with high percent similarity in mammals. The most distant orthologs are found in species of bony fish, but C22orf31 is not found in any species of birds or amphibians.
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.
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.
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.
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