C14orf93
| C14orf93 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | C14orf93, chromosome 14 open reading frame 93, RTFC | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | MGI: 1921609; HomoloGene: 11078; GeneCards: C14orf93; OMA:C14orf93 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.
Gene
[edit]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]
Protein
[edit]Features
[edit]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
[edit]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.
Subcellular localization
[edit]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.
Expression
[edit]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.
Interacting Proteins
[edit]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.
Homology
[edit]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.
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000100802 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022179 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "NCBI Gene: c14orf93". NCBI.
- ^ a b "NCBI Nucleotide: c14orf93". NCBI. 21 October 2018.
- ^ a b "Aceview: c14orf93". NCBI.
- ^ "NCBI Protein: c14orf93". NCBI.
- ^ a b c d "SDSC Biology Workbench". SDSC.[permanent dead link]
- ^ "ExPasy Compute Pi/MW tool". ExPasy.
- ^ "ExPasy NetPhos tool". ExPasy.
- ^ "ExPasy NetAcet tool". ExPasy.
- ^ "ExPasy SUMOplot analysis program". ExPasy.
- ^ "PSORTII". PSORT.
- ^ "NCBI GEO Profile: c14orf93 - Multiple Normal Tissues". NCBI.
- ^ "Mentha Interactome Browser". Mentha.
- ^ "BioGRID 3.4". BioGRID.
- ^ "IntAct Molecular Interaction Database". European BioInformatics Institute.
- ^ "UniProt Profile: PTP1". UniProt.
- ^ "UniProt Profile: MRFAP1". UniProt.
- ^ "UniProt Profile: Set". UniProt.
- ^ "NCBI BLAST". NCBI.