Uncharacterized protein C16orf78 is a protein that in humans is encoded by the C16orf78 gene.
Gene The C16orf78 gene(123970) is located at 16q12.1 on the plus strand, spanning 25,609 bp from 49,407,734 to 49,433,342.
mRNA There is one mRNA transcript (NM_144602.3) and no other known splice isoforms. There are 5 exons, totaling a length of 1068 base pairs.
Protein
Sequence C16orf78 is 265 amino acids long with a predicted molecular weight of 30.8 kDal and pI of 9.8. It is rich in both methionine and lysine, composed of 6.4% methionine and 13.6% lysine. This methionine richness has been hypothesized to serve as a mitochondrial antioxidant.
Post-transnational modifications There are four verified ubiquitination sites and three verified phosphorylation sites.
Structure Predictions of C16orf78's secondary structure consist primarily of alpha helices and coiled coils. Phyre2 also predicted C16orf78 is primarily helical, but 253 of 265 amino acids were modeled ab initio so the confidence of the model is low.
Subcellular localization C16orf78 is predicted to be localized to the cell nucleus. There is also a predicted bipartite nuclear localization signal.
Expression C16orf78 has restricted expression toward the testis, with much lower expression in other tissues.
Interaction C16orf78 has a physical association with DNA/RNA-binding protein KIN17 (NP_036443.1), suggesting C16orf78 may also play a role in DNA repair. C16orf78 was found to be phosphorylated by SRPK1(NP_003128.3) and SPRK2 (AAH68547.1).
Clinical significance Deletion of the C16orf78 gene has been identified as a determinant of prostate cancer.DePihno, R. A et al. (2016). U.S. Patent No. 9458510. Washington, DC: U.S. Patent and Trademark Office. A SNP in C16orf78 interacts with a SNP in LMTK2 and is associated with risk of prostate cancer.
Amplification of the C16orf78 gene has been linked to metabolically adaptive cancer cells. A duplication of the C16orf78 gene was associated with at least one case of Rolandic Epilepsy.
Homology
Paralogs C16orf78 has no known paralogs in humans.
Orthologs C16orf78 has over 80 orthologs, including animals as distant Ciona intestinalis(XP_002132057.1), which is estimated to have diverged from humans 676 million years ago. C16orf78 has orthologs in many types of mammals, reptiles, bony fish, and even some invertebrates, but has no known orthologs in amphibians or birds. Below is a table with samples of orthologs, with divergence dates from TimeTree and similarity calculated by pairwise sequence alignment. +Table of C16orf78 OrthologsSpecies NameNCBI AccessionDivergence (mya) (estimated)Length (aa)% Identity% SimilarityHomo sapiensNP_653203.10265100%100%Gorilla gorilla gorillaXP_004057673.29.0626596%98%Macaca mulattaXP_001082258.129.4426789%93%Galeopterus variegatusXP_008591134.17626665%77%Oryctolagus cuniculusXP_008273281.19025562%76%Mus musculusNP_808569.19027057%69%Lipotes vexilliferXP_007459548.19626665%77%Capra hircusXP_017918754.19627663%74%Callorhinus ursinusXP_025708226.19625062%74%Pteropus vampyrusXP_011358492.19626360%74%Loxodonta africanaXP_023411324.110528548%55%Sarcophilus harrisiiXP_003757266.115927038%53%Vombatus ursinusXP_027723426.115927538%54%Pogona vitticepsXP_020643996.131231526%43%Gekko japonicusXP_015263322.131226125%47%Python bivittatusXP_025030465.131231323%37%Latimeria chalumnaeXP_014344069.141331019%42%Acipenser ruthenusRXM34621.143520215%37%Ciona intestinalisXP_002132057.167639610%32%Apostichopus japonicusPIK46940.16842929%33%
References
External links