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C19orf81
Identifiers
Aliases	C19orf81, chromosome 19 open reading frame 81
External IDs	MGI: 1916599; HomoloGene: 19260; GeneCards: C19orf81; OMA:C19orf81 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19q13.33 Start 50,649,445 bp End 50,659,310 bp
Gene location (Mouse) Chr. Chromosome 7 (mouse) Band 7|7 B3 Start 44,009,467 bp End 44,035,244 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary right hemisphere of cerebellum pancreatic ductal cell left testis right testis C1 segment Brodmann area 9 stromal cell of endometrium right uterine tube right frontal lobe Top expressed in seminiferous tubule spermatid spermatocyte embryo embryo epiblast superior frontal gyrus dentate gyrus of hippocampal formation granule cell primary visual cortex tail of embryo More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 342918 69349 Ensembl ENSG00000235034 ENSMUSG00000008028 UniProt C9J6K1 H7BZS0 D3Z070 RefSeq (mRNA) NM_001195076 NM_027049 RefSeq (protein) NP_001182005 NP_081325 Location (UCSC) Chr 19: 50.65 – 50.66 Mb Chr 7: 44.01 – 44.04 Mb PubMed search
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.

Aliases

Other names for C19Orf81 include chromosome 19 open reading frame 81 and C9J6K1.

Gene

The gene C19Orf81 is found on chromosome 19 at site 19q13.33 from and is 9862 base pairs in length. It runs in the positive direction. 5 exons compose the 761 base pair (bp) coding sequence of the gene. One isoform gene exists for C19Orf81 that is 951 bp in length (XM_054320844.1).

mRNA expression

Tissue expression of C19Orf81 mRNA is found in the testes. 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.

Protein

The protein, C19Orf81, is 198 amino acids in length and has a molecular weight of 22.4 kDa. It contains one domain of unknown function, DUF4732, that spans from Gly23 to Leu181. Using DeepLoc 2.0, C19Orf81 has cytoplasm and nuclear localization. Predicted post-translational modifications (PTMs) of the protein, shown below, could indicate intercellular location and activity.

Post-translational modifications

PTMs predicted using Motif Scan and DTU Health Tec bioinformatic tools.

Phosphorylation

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. In an oncogenic setting, CK2 promotes the cancer cell’s growth due to its interference with apoptotic pathways. CK2 also plays a role in spermatogenesis and germ cell growth.

Amidation

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

Secondary structure prediction by CFSSP method displays multiple α-helices and a few β-sheets. A similar pattern seen in the tertiary structure of C19Orf81 by AlphaFold, is shown below

Function

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, phosphorylation by CK2 could indicate a role for C19Orf81 in spermatogonial stem cell differentiation and growth.

Phylogeny

Based on data found in the NCBI database and using NCBI BLAST, C19Orf81 has orthologs in all vertebrates except birds.

Orthologs

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 and median date of divergence (million years ago) was retrieved from TimeTree

References

1. ^ GRCh38: Ensembl release 89: ENSG00000235034 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000008028 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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6. ^ proteinatlas.org
7. 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
8. Gene . Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – . Available from: https://www.ncbi.nlm.nih.gov/gene?LinkName=protein_gene&from_uid=304307731
9. Nucleotide . Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – . Available from: https://www.ncbi.nlm.nih.gov/nuccore/NM_001195076.2
10. 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
11. The UniProt Consortium UniProt: the Universal Protein Knowledgebase in 2023 Nucleic Acids Res. 51:D523–D531 (2023) uniprot.org
12. Protein . Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – . Available from: https://www.ncbi.nlm.nih.gov/protein/304307731
13. 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
14. "Motif Scan".
15. 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
16. 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.
17. 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
18. 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
19. Ashok Kumar, T. (2013). CFSSP: Chou and Fasman Secondary Structure Prediction server. WIDE SPECTRUM: Research Journal. 1(9):15-19.
20. Jumper, J et al. Highly accurate protein structure prediction with AlphaFold. Nature (2021).
21. 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).
22. 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
23. BLAST . Bethesda (MD): National Library of Medicine (US), National Center for Biotechnology Information; 2004 – . Available from: https://www.ncbi.nlm.nih.gov/BLAST/
24. 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.
25. 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

• Genes on human chromosome 19