Figure depicting human chromosome 3 and the 3p11.1 location at which the C3orf38 gene is found. Image derived from GeneCards.
The C3orf38 gene is located on chromosome 3 (3p11.1) on the forward strand.[5] It spans 18,771 bases from chr3:88,149,959-88,168,729.[5] It contains 3 exons.[6] Common aliases for this gene are MGC26717, LOC285237, and FLJ54270.[7] Some of the genes neighboring C3orf38 include ZNF654, CGGBP1, and LOC105377202.[8]
Multiple sequence alignment of C3orf38 protein in humans and various orthologs showing DUF conservation. MSA created using BoxShade tools.
The C3orf38 protein is 329 amino acids in length.[9] A large domain of unknown function, DUF4518, encompasses majority of the C3orf38 protein.[9] This domain is a part of the protein family pfam15008, which is thought to be involved in apoptosis regulation.[10] This pfam15008 is the only member of the cl20886 superfamily.[10] While the C3orf38 protein does not have any abnormal amino acid abundance as a whole, the DUF4518 has a high abundance of histidines and a low abundance of serines, according to compositional analysis.[11] The predicted molecular weight of the entire C3orf38 protein is 37.0 kD and the isoelectric point is 6.01.[12] The DUF4518 contained inside the C3orf38 protein has a predicted molecular weight of 31 kD and an isoelectric point of 6.49.[12]
Regulation
Gene Level Regulation
There have been a number of potential promoters identified for the C3orf38 gene, which are described in the table below.[13]
no transcript assigned; promoter based on comparative genomics
GXP_9795963
88148794
88150027
1234
no transcript assigned; promoter based on comparative genomics
GXP_3194836
88149604
88150643
1040
GXT_24485561
The C3orf38 gene exhibits ubiquitous expression in human tissues.[14]
Normal human tissue expression profiling (HG-U95E) for the C3orf38 gene. Data pictured is captured from the NCBI GEO database.
Protein Level Regulation
The C3orf38 protein is expected to be found with the highest confidence in the cytoplasm.[15] This finding is supported by examination of an array of C3orf38 orthologs.[15]
There are several well conserved post translation modification sites found amongst the human C3orf38 protein and its orthologs, which are depicted in the table below.[16] Majority of these PTMs are PKCphosphorylation sites.[16] Additionally, two confirmed active sites are located in the C3orf38 protein. The first is an aldehyde dehydrogenases glutamic acid active site located from amino acids 1-8.[16] The second site is a eukaryotic thiol (cysteine) proteases histidine active site located from amino acids 227-237.[16]
Predicted cellular localization of C3orf38 in humans and several orthologs. Localization predictions gathered from PSORT II Prediction tool.
Figure showing an evolution rate graph comparing the C3orf38, cytochrome C, and fibrinogen alpha proteins. Noting the cytochrome C to be a relatively slow-evolving protein and the fibrinogen alpha to be a relatively fast-evolving protein, it is clear that C3orf38 protein evolves at a comparatively moderate rate.
Function
Although investigation into the function of the C3orf38 gene is ongoing, a couple studies have granted valuable insights into its role. One study has identified C3orf38 as a candidate proapoptotic gene.[20] Another study identified C3orf38 as a top candidate tumor suppressor gene (TSG).[21]
Interacting proteins
Of the various proteins C3orf38 protein interacts with, two are particularly interesting seeing as C3orf38 is a candidate proapoptotic and tumor suppressor gene. First, BAG family molecular chaperone regulator 4 (BAG4) is an anti-apoptotic protein that is known to interact with a number of apoptosis and growth-related proteins.[22] Second, DnaJ Heat Shock Protein Family Member B4 (DNAJB4) is a member of the heat shock protein-40 family (Hsp40), a molecular chaperone, and a tumor suppressor (specifically for colorectal carcinoma).[23]
↑ "BAG4". www.genecards.org. Archived from the original on 2011-11-27. Retrieved 2021-12-18.
↑ "DNAJB4". www.genecards.org. Archived from the original on 2021-12-18. Retrieved 2021-12-18.
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