C10orf67

C10orf67
Identifiers
Aliases	C10orf67, C10orf115, LINC01552, bA215C7.4, chromosome 10 open reading frame 67
External IDs	MGI: 1918087; HomoloGene: 82326; GeneCards: C10orf67; OMA:C10orf67 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10p12.2 Start 23,202,696 bp[1] End 23,344,845 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A3|2 Start 19,467,648 bp[2] End 19,558,725 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell tendon of biceps brachii right uterine tube olfactory zone of nasal mucosa right testis left testis testicle bronchial epithelial cell secondary oocyte right lung Top expressed in spermatid embryo seminiferous tubule lumbar spinal ganglion spermatocyte lumbar subsegment of spinal cord blastocyst digastric muscle vastus lateralis muscle gastrula More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 256815 70909 Ensembl ENSG00000179133 ENSMUSG00000026734 UniProt Q8IYJ2 Q8CET2 RefSeq (mRNA) NM_153714 NM_001351306 NM_001365862 NM_001371909 NM_027600 RefSeq (protein) NP_714925 NP_001338235 NP_001352791 NP_001358838 NP_081876 Location (UCSC) Chr 10: 23.2 – 23.34 Mb Chr 2: 19.47 – 19.56 Mb PubMed search [3] [4]
Wikidata
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Chromosome 10 open reading frame 67 (C10orf67), also known as C10orf115, LINC01552, and BA215C7.4, is an un-characterized human protein-coding gene. Several studies indicate a possible link between genetic polymorphisms of this and several other genes to chronic inflammatory barrier diseases such as Crohn's Disease and sarcoidosis.^[5][6][7]

The gene spans 142,366 base pairs and is located at the 10p12.2 locus on the minus (-) or sense strand of chromosome 10. It is flanked upstream by the gene ARMC3^[8] and downstream by the gene KIAA1217.^[9][10] These genes are approximately 150,000 bp and 350,000 bp from C10orf67, respectively.

There are 23 alternatively spliced exons, which encode 13 transcript variants. The primary transcript, only 2943 bp, is not well conserved among orthologs, rather, the X2 variant, 3417 bp, has far greater identity with orthologous proteins. This X2 transcript variant contains 15 exons which yield a polypeptide of 551 amino acids.^[11][12]

*depending on post-translational modifications (PTMs)

**From no PTMs - all possible PTMs

The isoelectric point is significantly greater than average for human proteins (6.81).^[13]

Shown to the right is a predicted tertiary structure of the protein. It is marked by long alpha-helices with several coil regions and beta strands localized to the end of the protein opposite the N- and C- terminal ends.

C10orf67 is moderately expressed (50-75%) in most tissues in the body.^[15] However, a study on NCBI GEO discussing the influence of interleukin-13 (IL-13) on gene expression^[16] found that protein expression dropped to zero in the presence of IL-13 in airway epithelia.

The protein contains a mitochondrial signal peptide localizing it to the mitochondrial matrix.^[17] Analysis with subcellular localization software^[18][19] confirmed this finding. However, some orthologs were also predicted to localize in the nucleus. Though the high isoelectric point of the Human protein provides further evidence for the mitochondrial localization due to the high pH of the mitochondrial matrix.

The protein is initially cleaved to remove the 36 amino acid N-terminal signal peptide after it is localized to the mitochondrion.^[20]

There are a number of predicted phosphorylation sites, however there is one experimentally-confirmed phosphorylation site at threonine 69.^[21] The other phosphorylation sites are summarized in the protein diagram below.

There are five predicted sumoylation sites within C10orf67. These are summarized by the following table:

C10orf67 has no known paralogs but has many orthologs within eukaryotes and retains significant identity with species as distantly related as invertebrates. Several select orthologs are listed below with some identifying information.

The rate of evolution of C10orf67 was compared to that of fibrinogen and cytochrome c, which represent fast and slow rates of evolution, respectively. The bolded species in the table were selected to represent the fibrinogen and cytochrome c orthologs to determine the rate of evolution of the respective proteins.

The rate of evolution of C10orf67 is very curious in that it follows a logarithmic trend rather than a linear trend, like most proteins.

While the function of C10orf67 is unknown, its interactions with IL-13 further suggest a role of C10orf67 in sarcoidosis as the disease is known to involve various interleukins.

While several NCBI GEO profiles examining various factors on gene expression show that C10orf67 is expressed in varying levels in different cancer tissues,^[22][23] the mitochondrial localization may yield some insight as to a clinical function. Mitochondria have been shown to have some influence in cell proliferation. Given the high energy demand from cell proliferation, there have been several hypotheses that the mitochondria may play a role in the cell cycle and that C10orf67, being localized to the mitochondria, may have a hand in this as well.