Chromosome 16 open reading frame 95 is a protein that in humans is encoded by the C16orf95 gene. It has orthologs in mammals, and is expressed at a low level in many tissues. C16orf95 evolves quickly compared to other proteins.
Gene C16orf95 is a Homo sapiens gene oriented on the minus strand of chromosome 16. It is located on the cytogenic band 16q24.2 and spans 14.62 kilobases. The gene contains 6 introns and 7 exons.
Homology
Paralogs There are no known paralogs of C16orf95.
Orthologs Orthologs of C16orf95 exist only in mammals (identified with BLAST). The most distant orthologs are found in opossums and Tasmanian devils. Genus and speciesCommon nameNCBI accessionDate of divergenceSequence identityHomo sapiensHumanNP_0011820530 mya100%Pan paniscusBonoboXP_0089725656.2 mya92%Gorilla gorilla gorillaGorillaXP_0040581578.3 mya95%Nomascus leucogenysWhite-cheeked gibbonXP_00327250319.3 mya88%Mandrillus leucophaeusDrillXP_01182705227.3 mya78%Propithecus coquereliLemurXP_01251311177.1 mya62%Tupaia chinensisTree shrewXP_00615261286.5 mya58%Oryctolagus cuniculusEuropean rabbitXP_00825032590.1 mya56%Mus musculusMouseNP_08387390.1 mya54%Rattus norvegicusRatXP_00622284490.1 mya51%Camelus bactrianusCamelXP_01096655595 mya63%Canis lupus familiarisDogXP_00562064695 mya63%Equus caballusHorseXP_00560853895 mya60%Felis catusCatXP_01128858295 mya60%Bos taurusCattleXP_01533126695 mya60%Lipotes vexilliferYangtze river dolphinXP_00746852895 mya50%Myotis lucifugusBrown batXP_01431858995 mya56%Trichechus manatus latirostrisManateeXP_004377854102 mya66%Loxodonta africanaElephantXP_003418190102 mya59%Orycteropus afer aferAardvarkXP_007937409102 mya54%Monodelphis domesticaOpossumXP_007477328162.4 mya42%Sarcophilus harrisiiTasmanian devilXP_012395810162.4 mya41%
mRNA
Alternative splicing There are three splice variants of C16orf95. The longest transcript contains 1156 base pairs and 7 exons. Compared to variant 1, the second transcript variant lacks exons 4 and 5. This alternative splicing results in a frameshift of the 3' coding region, and a shorter, unique C-terminus. The third transcript variant lacks exons 4 and 5, and uses an alternate 5' exon and start codon. The resulting peptide has unique N- and C-termini compared to variant 1. Size (base pairs)Exon #Variant 1Variant 2Variant 31330330334252525231261261264147––537––61871871877277278278Total1,156973977
Secondary structure The 3' untranslated region of the C16orf95 mRNA contains binding sites for KH domain-containing, RNA-binding, signal transduction-associated protein 3 (KHDRBS3) within an internal loop structure. KHDRBS3 regulates mRNA splicing and may act as a negative regulator of cell growth.
Expression The expression of C16orf95 is not well characterized. However, it has been detected at low levels in the following tissue types: bone, brain, ear, eye, intestine, kidney, lung, lymph nodes, prostate, testes, tonsils, skin, and uterus.
Protein
Structure
Primary The longest isoform of the C16orf95 protein has 239 amino acids. It has a conserved domain of unknown function spanning residues 76 to 239. C16orf95 has a calculated molecular weight of 26.5 kDa, and a predicted isoelectric point of 9.8. Compared to other human proteins, C16orf95 has more cysteine, arginine, and glutamine residues. It has fewer aspartate, glutamate, and asparagine. The high ratio of basic to acidic amino acids contributes to the protein's higher isoelectric point.
Secondary C16orf95 is predicted to have several alpha-helices in its C-terminus. This is true for the human and mouse proteins. The N-terminus does not have significant cross-program consensus for secondary structure.
Post-translational modifications The tools available at ExPASy were used to predict post-translational modification sites on C16orf95. The following modifications are predicted: palmitoylation, phosphorylation, and O-linked glycosylation. Bolded residues in the table indicate sites that are conserved in more than one species. Predicted modificationSites - Homo sapiensSites - Mus musculusSites - Canis lupus familiarisToolPalmitoylationC77, C80, C126, C178, C187C24, C41, C90 C64, C113, C174CSS-PalmPhosphorylationS6, S9, S53, T57, S68, S91, S111, T122, S166S30, S76, S89, S120,
T134, S141S15, S35, T39, S153NetPhos 2.0O-β-GlcNAcS4, S6, S9, T57, S111NoneNoneNetOGlyc 4.0
Evolution C16orf95 has a large number of amino acid changes over time, indicating it is a quickly evolving protein.
Interacting proteins There are no proteins known to interact with C16orf95.
Clinical significance Deletions of C16orf95 have been associated with hydronephrosis, microcephaly, distichiasis, vesicoureteral reflux, and intellectual impairment. However, the deletions included coding regions of the following genes: F-box Protein 31 (FBXO31), Microtubule-Associated Protein 1 Light Chain 3 Beta (MAP1LC3B), and Zinc Finger CCHC Type 14 (ZCCHC14). The contributions of each of these genes to the observed phenotypes has yet to be scientifically determined.
References