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C19Orf81
Human protein and gene From Wikipedia, the free encyclopedia
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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]
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Aliases
Other names for C19Orf81 include chromosome 19 open reading frame 81 and C9J6K1.[7]
Gene
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
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]
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Protein
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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.
Post-translational modifications
PTMs predicted using Motif Scan[14] and DTU Health Tec[15] 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.[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
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[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
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,[5][6] phosphorylation by CK2 could indicate a role for C19Orf81 in spermatogonial stem cell differentiation and growth.[22]
Phylogeny
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Based on data found in the NCBI database and using NCBI BLAST,[23] 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[24] and median date of divergence (million years ago) was retrieved from TimeTree[25]
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References
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