C19Orf81
C19orf81 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | C19orf81, chromosome 19 open reading frame 81 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | MGI: 1916599; HomoloGene: 19260; GeneCards: C19orf81; OMA:C19orf81 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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C19Orf81 is a protein which in humans is encoded by the gene C19Orf81. It is a rarely expressed protein found mainly in the testes, cerebellum and cerebral cortex.[5][6]
Aliases
[edit]Other names for C19Orf81 include chromosome 19 open reading frame 81 and C9J6K1.[7]
Gene
[edit]The gene C19Orf81 is found on chromosome 19 at site 19q13.33 from and is 9862 base pairs in length.[8] It runs in the positive direction. 5 exons compose the 761 base pair (bp) coding sequence of the gene.[9] One isoform gene exists for C19Orf81 that is 951 bp in length (XM_054320844.1).
mRNA expression
[edit]Tissue expression of C19Orf81 mRNA is found in the testes.[5][6] mRNA expression may be regulated by the KMT2D transcription factor, a histone methyltransferase, due to a decrease in C19Orf81 expression when KMT2D is down regulated.[10]
Protein
[edit]The protein, C19Orf81, is 198 amino acids in length and has a molecular weight of 22.4 kDa.[11] It contains one domain of unknown function, DUF4732, that spans from Gly23 to Leu181.[12] Using DeepLoc 2.0,[13] C19Orf81 has cytoplasm and nuclear localization. Predicted post-translational modifications (PTMs) of the protein, shown below, could indicate intercellular location and activity.
![](http://upload.wikimedia.org/wikipedia/commons/thumb/8/87/Finalwiktransseqc19orf81.png/400px-Finalwiktransseqc19orf81.png)
Post-translational modifications
[edit]PTMs predicted using Motif Scan[14] and DTU Health Tec[15] bioinformatic tools.
Casein kinase 2 (CK2): Thr31, Thr86, Thr93
Protein kinase C (PKC): Ser46, Ser111, Ser116, Ser154
Casein kinases, specifically CK2, have been shown to play a role in major cell events such as survival metabolism, growth, protein synthesis, proliferation and DNA repair.[16] In an oncogenic setting, CK2 promotes the cancer cell’s growth due to its interference with apoptotic pathways.[17] CK2 also plays a role in spermatogenesis and germ cell growth.[18]
Amidation
[edit]An amidation site on C19Orf81 is positioned at Arg129 in the snippet ARGG. Amidation of a protein is and important modification necessary for signaling and protein interactions.
Structure
[edit]Secondary structure prediction by CFSSP[19] method displays multiple α-helices and a few β-sheets. A similar pattern seen in the tertiary structure of C19Orf81 by AlphaFold,[20][21] is shown below
![](http://upload.wikimedia.org/wikipedia/commons/thumb/4/46/CombinedStructureC19Orf81.png/500px-CombinedStructureC19Orf81.png)
Function
[edit]Given C19Orf81’s appearance in early stage spermatogonia cells and lower levels in other stages of spermatogenesis, as shown by expression summaries from the Human Protein Atlas,[5][6] phosphorylation by CK2 could indicate a role for C19Orf81 in spermatogonial stem cell differentiation and growth.[22]
Phylogeny
[edit]![](http://upload.wikimedia.org/wikipedia/commons/thumb/6/68/Unrooted_Phylogenetic_Tree_of_Ortholog_Species.png/220px-Unrooted_Phylogenetic_Tree_of_Ortholog_Species.png)
Based on data found in the NCBI database and using NCBI BLAST,[23] C19Orf81 has orthologs in all vertebrates except birds.
Orthologs
[edit]Below is a table of ortholog genes of the human C19Orf81 gene found by using NCBI Blast. Sequence similarities were calculated using Emboss Needle Alignment Tool[24] and median date of divergence (million years ago) was retrieved from TimeTree[25]
Genus Species | Common Name | Taxonomic Order | Median Date of Divergence (MYA) | Sequence Length (aa) | Sequence Identity% to Human | Sequence Similarity% to Human | Accession # |
---|---|---|---|---|---|---|---|
Homo sapiens | Human | Primate | 0 | 198 | 100 | 100 | NP_001182005.1 |
Rhinopithecus roxellana | Golden Snub-Nosed Monkey | Primate | 28.8 | 198 | 96 | 98 | XP_010367863.1 |
Piliocolobus tephrosceles | Ugandan Red Colobus | Primate | 28.8 | 198 | 95.5 | 97.5 | XP_023038374.1 |
Mus musculus | Mouse | Rodentia | 87 | 196 | 78.3 | 88.9 | NP_081325.1 |
Orcinus orca | Orca | Artiodactyle | 94 | 198 | 84.3 | 91.4 | XP_049559498.1 |
Eumetopias jubatus | Steller Sea Lion | Carnivora | 94 | 198 | 81.8 | 89.9 | XP_027947235.1 |
Echinops telfairi | Lesser Hedgehog Tenrec | Afrosoricida | 99 | 198 | 83.3 | 90.4 | XP_012862141.2 |
Hyla sarda | Sardinian Tree Frog | Anura | 352 | 219 | 33.2 | 47.5 | XP_056398596.1 |
Bufo gargarizans | Asiatic Toad | Anura | 352 | 254 | 28.8 | 42 | XP_044133453.1 |
Microcaecilia unicolor | Microcaecilia Unicolor | Gymnophiona | 352 | 212 | 41.7 | 56.6 | XP_030051298.1 |
Rhinatrema bivittatum | Two-lined Caecilian | Gymnophiona | 352 | 216 | 40.6 | 55.2 | XP_029441218.1 |
Protopterus annectens | Western African Lungfish | Lepidosireniformes | 408 | 205 | 37.8 | 59 | XP_043915129.1 |
Latimeria chalumnae | West Indian Ocean Coelacanth | Coelacathiformes | 415 | 219 | 40.3 | 61.5 | XP_014341008.1 |
Acipenser ruthenus | Sterlet | Aceripensiformes | 429 | 210 | 40.6 | 57.5 | XP_058875337.1 |
Amblyraja radiata | Thorny Skate | Rajiformes | 462 | 197 | 38.8 | 53.3 | XP_032872447.1 |
Leucoraja erinacea | Little Skate | Rajiformes | 462 | 197 | 38.8 | 52.9 | XP_055521580.1 |
Carcharodon carcharias | Great White Shark | Lamniformes | 462 | 198 | 42.3 | 61.4 | XP_041033413.1 |
Scyliorhinus canicula | Small Spotted Catshark | Carcharhiniformes | 462 | 198 | 38.6 | 55.7 | XP_038639721.1 |
Chiloscyllium plagiosum | White Spotted Bamboo Shark | Orectolobiformes | 462 | 158 | 36.6 | 54.6 | XP_043535241.1 |
Rhincodon typus | Whale Shark | Orectolobiformes | 462 | 176 | 39.5 | 60 | XP_020365855.2 |
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000235034 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000008028 – 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.
- ^ a b c Uhlén, M., Fagerberg, L., Hallström, B. M., Lindskog, C., Oksvold, P., Mardinoglu, A., Sivertsson, Å., Kampf, C., Sjöstedt, E., Asplund, A., Olsson, I., Edlund, K., Lundberg, E., Navani, S., Szigyarto, C. A., Odeberg, J., Djureinovic, D., Takanen, J. O., Hober, S., Alm, T., … Pontén, F. (2015). Proteomics. Tissue-based map of the human proteome. Science, 347(6220), 1260419. https://doi.org/10.1126/science.1260419
- ^ a b c proteinatlas.org
- ^ The GeneCards Suite: From Gene Data Mining to Disease Genome Sequence Analyses (PMID 27322403 ; Citations: 2,595) Stelzer G, Rosen R, Plaschkes I, Zimmerman S, Twik M, Fishilevich S, Iny Stein T, Nudel R, Lieder I, Mazor Y, Kaplan S, Dahary, D, Warshawsky D, Guan - Golan Y, Kohn A, Rappaport N, Safran M, and Lancet D Current Protocols in Bioinformatics(2016), 54:1.30.1 - 1.30.33.doi: 10.1002 / cpbi.5 [PDF]
- ^ Gene [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – [cited 2023 12 15]. Available from: https://www.ncbi.nlm.nih.gov/gene?LinkName=protein_gene&from_uid=304307731
- ^ Nucleotide [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – [cited 2023 12 15]. Available from: https://www.ncbi.nlm.nih.gov/nuccore/NM_001195076.2
- ^ Jefri, M., Zhang, X., Stumpf, P. S., Zhang, L., Peng, H., Hettige, N., Theroux, J. F., Aouabed, Z., Wilson, K., Deshmukh, S., Antonyan, L., Ni, A., Alsuwaidi, S., Zhang, Y., Jabado, N., Garcia, B. A., Schuppert, A., Bjornsson, H. T., & Ernst, C. (2022). Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4). Human molecular genetics, 31(21), 3715–3728. https://doi.org/10.1093/hmg/ddac121
- ^ The UniProt Consortium UniProt: the Universal Protein Knowledgebase in 2023 Nucleic Acids Res. 51:D523–D531 (2023) uniprot.org
- ^ Protein [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – [cited 2023 12 15]. Available from: https://www.ncbi.nlm.nih.gov/protein/304307731
- ^ DeepLoc 2.0: multi-label subcellular localization prediction using protein language models. Vineet Thumuluri, Jose Juan Almagro Armenteros, Alexander Rosenberg Johansen, Henrik Nielsen, Ole Winther. Nucleic Acids Research, Web server issue 2022. DeepLoc 2.0
- ^ "Motif Scan".
- ^ Sequence- and structure-based prediction of eukaryotic protein phosphorylation sites. Blom, N., Gammeltoft, S., and Brunak, S. Journal of Molecular Biology: 294(5): 1351-1362, 1999.PMID 10600390 DTU Bioinformatic Tools
- ^ Pepperkok, R., Lorenz, P., Ansorge, W., & Pyerin, W. (1994). Casein kinase II is required for transition of G0/G1, early G1, and G1/S phases of the cell cycle. The Journal of biological chemistry, 269(9), 6986–6991.
- ^ Litchfield D. W. (2003). Protein kinase CK2: structure, regulation and role in cellular decisions of life and death. The Biochemical journal, 369(Pt 1), 1–15. https://doi.org/10.1042/BJ20021469
- ^ Xu, X., Toselli, P., Russell, L. et al. Globozoospermia in mice lacking the casein kinase II α′ catalytic subunit. Nat Genet 23, 118–121 (1999). https://doi.org/10.1038/12729
- ^ Ashok Kumar, T. (2013). CFSSP: Chou and Fasman Secondary Structure Prediction server. WIDE SPECTRUM: Research Journal. 1(9):15-19.
- ^ Jumper, J et al. Highly accurate protein structure prediction with AlphaFold. Nature (2021).
- ^ Varadi, M et al. AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models. Nucleic Acids Research (2021).
- ^ Guo, J., Grow, E.J., Mlcochova, H. et al. The adult human testis transcriptional cell atlas. Cell Res 28, 1141–1157 (2018). https://doi.org/10.1038/s41422-018-0099-2
- ^ BLAST [Internet]. Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – [cited 2023 12 15]. Available from: https://www.ncbi.nlm.nih.gov/BLAST/
- ^ Needleman SB, Wunsch CD. A general method applicable to the search for similarities in the amino acid sequence of two proteins. Journal of Molecular Biology. 1970 Mar;48(3):443-453. DOI: 10.1016/0022-2836(70)90057-4. PMID 5420325.
- ^ Kumar S, Suleski M, Craig JM, Kasprowicz AE, Sanderford M, Li M, Stecher G, Hedges SB (2022) TimeTree 5: An Expanded Resource for Species Divergence Times. Mol Biol Evol doi.org/10.1093/molbev/msac174