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C16orf78

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Protein-coding gene in the species Homo sapiens

Uncharacterized protein C16orf78(NP_653203.1) is a protein that in humans is encoded by the chromosome 16 open reading frame 78 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.

Diagram of C16orf78 protein with ubiquitination sites marked in red and phosphorylation sites marked in gray.

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.

Phyre2 generated model of C16orf78 rendered in Chimera.

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.

Expression of C16orf78 across multiple human 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. 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 Orthologs
Species Name NCBI Accession Divergence (mya) (estimated) Length (aa) % Identity % Similarity
Homo sapiens NP_653203.1 0 265 100% 100%
Gorilla gorilla gorilla XP_004057673.2 9.06 265 96% 98%
Macaca mulatta XP_001082258.1 29.44 267 89% 93%
Galeopterus variegatus XP_008591134.1 76 266 65% 77%
Oryctolagus cuniculus XP_008273281.1 90 255 62% 76%
Mus musculus NP_808569.1 90 270 57% 69%
Lipotes vexillifer XP_007459548.1 96 266 65% 77%
Capra hircus XP_017918754.1 96 276 63% 74%
Callorhinus ursinus XP_025708226.1 96 250 62% 74%
Pteropus vampyrus XP_011358492.1 96 263 60% 74%
Loxodonta africana XP_023411324.1 105 285 48% 55%
Sarcophilus harrisii XP_003757266.1 159 270 38% 53%
Vombatus ursinus XP_027723426.1 159 275 38% 54%
Pogona vitticeps XP_020643996.1 312 315 26% 43%
Gekko japonicus XP_015263322.1 312 261 25% 47%
Python bivittatus XP_025030465.1 312 313 23% 37%
Latimeria chalumnae XP_014344069.1 413 310 19% 42%
Acipenser ruthenus RXM34621.1 435 202 15% 37%
Ciona intestinalis XP_002132057.1 676 396 10% 32%
Apostichopus japonicus PIK46940.1 684 292 9% 33%

References

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External links

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