| C14orf93 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C14orf93 , chromosome 14 open reading frame 93, RTFC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1921609 HomoloGene: 11078 GeneCards: C14orf93 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C14orf93 is a protein that is encoded in humans by the C14orf93 gene. It is a globular protein with a conserved C-terminus that is localized to the nucleus. While expressed relatively highly in all tissues except nervous tissue, it is expressed particularly highly in T cells and other immune tissues.
c14orf93 is located on the short arm of chromosome 14 (14q11.2). [5] c14orf93’s accession number is 021944, and its aliases are FLJ12154 and LOC60686. The gene has 2430 bp and 7 exons. [6]
The c14orf93 protein has 9 isoforms. [7] The most common and largest isoform has 538 AAs, [8] a molecular weight of 58.7 kdal, [9] and a theoretical isoelectric point of 5.7. [10] This protein is globular with a conserved C-terminus, a mixed charge cluster from 371 to 399, and a high scoring uncharged segment from 28 to 58. [9] SDSC PELE consensus data predicts 15 alpha helixes and 8 beta strands. [9]
Post-translational modifications to c14orf93 include phosphorylation, N-acetylation, and sumoylation. Serine phosphorylation sites are predicted at 23 residues, threonine at 6 residues, and tyrosine at 2 residues. [11] There are two experimentally confirmed serine phosphorylation sites at residues 285 and 428, [6] which may serve as sites of activation or deactivation. N-acetylation is predicated at the second residue; this modification affects stability and localization. [12] There are 6 motifs with high probability of sumoylation. [13] SUMO (small ubiquitin-like modifiers) are small proteins like ubiquitin that start a cascade involved in protein stability, nuclear-cytosolic transport, and transcriptional regulation.
PSORTII data predicts that c14orf93 is localized to the nucleus. [14] There is a nuclear localization signal at residues 298-301. There are also two peroxisomal targeting signals at residues 451-459 and 479-487.
c14orf93 is expressed 2.7 times higher than the average gene across all tissues. [7] It is expressed relatively highly in all tissues except for nervous tissue. [15] There is markedly higher expression seen in T cells, and there is a slightly higher expression pattern shown in other immune tissues such as bone marrow, spleen, and lymph nodes.
C14orf93 has been shown to physically interact with PTP1, MRFAP1, Set, APP, and MOV10; [16] [17] [18] these interactions are listed in the table below. The organism column shows where the protein was sourced in the experiment showing the physical interactions.
| Protein | Organism |
|---|---|
| PTP1 | Saccharomyces cerevisiae S288c |
| MRFAP1 | Homo sapiens |
| Set | Mus musculus |
| APP | Homo sapiens |
| MOV10 | Homo sapiens |
Of these five interactions, PTP1, MRFAP1, and SET have gone through the most verification. PTP1, tyrosine-protein phosphatase 1, is a protein found in yeast, but there is an ortholog in humans. [19] PTP1 may be responsible for activating/deactivating c14orf93 due to its phosphatase activity and perinuclear location. MRFAP1, MORF4 family-associated protein 1, is a human protein that interacts with members of the MORF4/MRG family and the tumor suppressor Rb. [20] This protein may be involved in senescence, cell growth, and immortalization. There is a human ortholog to mouse Set protein (phosphatase 2A inhibitor or I2PP2A), and it is localized to the nucleus. [21] Set binds to DNA in order to negatively regulate neuron apoptotic processes and transcription, functioning as an oncogene.
There are orthologs for c14orf93 in all vertebrates from Homo sapiens to bony fish. [22] There are no paralogs for c14orf93. C14orf93 is part of the family DUF4616; this family is marked by a domain of unknown function in the C-terminal domain. DUF4616 proteins are between 166 and 538 amino acids in length, and they are part of the sI21231 superfamily. The last 200 residues C-terminus is highly conserved with a seventeen residue pattern from 439-456 that is notably conserved in all orthologs. [9] This region likely plays a major part in the function of c14orf93.
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.
Coiled-coil domain-containing protein 144A is a protein that in humans is encoded by the CCDC144A gene. An alias of this gene is called KIAA0565. There are four members of the CCDC family: CCDC 144A, 144B, 144C and putative CCDC 144 N-terminal like proteins.
Protein FAM214A, also known as protein family with sequence similarity 214, A (FAM214A) is a protein that, in humans, is encoded by the FAM214A gene. FAM214A is a gene with unknown function found at the q21.2-q21.3 locus on Chromosome 15 (human). The protein product of this gene has two conserved domains, one of unknown function (DUF4210) and another one called Chromosome_Seg. Although the function of the FAM214A protein is uncharacterized, both DUF4210 and Chromosome_Seg have been predicted to play a role in chromosome segregation during meiosis.
Transmembrane protein 251, also known as C14orf109 or UPF0694, is a protein that in humans is encoded by the TMEM251 gene. One notable feature of this protein is the presence of proline residues on one of its predicted transmembrane domains., which is a determinant of the intramitochondrial sorting of inner membrane proteins.
C5orf34 is a protein that in humans is encoded by the C5orf34 gene (5p12).
PROSER2, also known as proline and serine rich 2, is a protein that in humans is encoded by the PROSER2 gene. PROSER2, or c10orf47(Chromosome 10 open reading frame 47), is found in band 14 of the short arm of chromosome 10 (10p14) and contains a highly conserved SARG domain. It is a fast evolving gene with two paralogs, c1orf116 and specifically androgen-regulated gene protein isoform 1. The PROSER2 protein has a currently uncharacterized function however, in humans, it may play a role in cell cycle regulation, reproductive functioning, and is a potential biomarker of cancer.
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.
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.
Transmembrane protein 268 is a protein that in humans is encoded by TMEM268 gene. The protein is a transmembrane protein of 342 amino acids long with eight alternative splice variants. The protein has been identified in organisms from the common fruit fly to primates. To date, there has been no protein expression found in organisms simpler than insects.
Chromosome 8 open reading frame 82 is a protein encoded in humans by the C8orf82 gene.
Glutamate Rich Protein 5 is a protein in humans encoded by the ERICH5 gene, also known as Chromosome 8 open reading frame 47 (C8orf47).
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.
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.
Chromosome 3 Open Reading Frame 62 (C3orf62), is a protein that in humans is encoded by the C3orf62 gene. C3orf62 is a glycine depleted protein relative to the amount of glycine in proteins in the rest of the genome. C3orf62 has a KKXX-like motif and is predicted to be localized in the nucleus. Expression of C3orf62 remains highest in whole blood.
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.
Uncharacterized protein C17orf50 is a protein which in humans is encoded by the C17orf50 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.
C4orf19 is a protein which in humans is encoded by the C4orf19 gene.
Chromosome 20 open reading frame 85, or most commonly known as C20orf85 is a gene that encodes for the C20orf85 Protein. This gene is not yet well understood by the scientific community.
