User:UMNCBS17/sandbox

Introduction

Chromosome 17 open reading frame 47 (C17orf47) is a gene of unknown function in Homo sapiens . The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long. There are currently no experimental structures for the C17orf47 gene product with a sequence identity >90%.

Protein Properties

Although C17orf47 is predicted to be an intracellular protein, its exact location is unknown. There is some confidence that the subcellular locations of C17orf47 include the cytosol, the nucleus, and mitochondrion. C17orf47 contains a domain of unknown function DUF4655 , which has a length characteristic of that DUF family . There are three predicted regions of low complexity in C17orf47 . These regions of low complexity may contain stress-response related terms which involve flexible binding for specific functions . There are three known polymorphic SNPs in C17orf47 . There are 6 sites of post-translational modification supported by multiple records, according to Phosphosite .

The gene is 2,698 base pairs long, contains one gt-ag intron, and is oriented on the minus strand of DNA. The pre-messenger has 2 exons and the predicted protein is 570 amino acids long . There are currently no experimental structures for the C17orf47 gene product with a sequence identity >90% .

Homology

Sixty-eight other organisms, mostly mammals, have orthologs with C17orf47.    Expression

There is positive differential mRNA and protein expression of C17orf47 in normal tissue of testis . Specifically, nucleolar expression of the gene product occurs in the seminiferous ducts of the testis . While C17orf47 is not currently associated with any diseases, several cases of carcinoids displayed strong C17orf47 expression via staining with HPA028424 antibody provided by Sigma-Aldrich . Polyphen predicts C17orf47 variants to be benign .

During a study on the endocytic system, a weak but specific association with C17orf47 in the regulation of endocytosis was found. Knockdown of C17orf47 caused decreased epidermal growth factor endocytosis as well as decreased transferrin endocytosis. In another experiment, knockdown of C17orf47 resulted in decreased infection of cells by vaccinia virus .

References

[1] NCBI (National Center for Biotechnology Information) entry on c17orf47 [http://www.ncbi.nlm.nih.gov/gene/284083]

[2] Gene Cards (Gene Cards Human Gene Database) entry on C17orf47 [http://www.genecards.org/cgi-bin/carddisp.pl?gene=C17orf47]

[3] The Human Protein Atlas entry on C17orf47 in tissue

[http://www.proteinatlas.org/ENSG00000181013-C17orf47/tissue]

[4] The Human Protein Atlas entry on C17orf47 in cancer [http://www.proteinatlas.org/ENSG00000181013-C17orf47/cancer] 

[5] Dusi, S., Valletta, L., Haack, T., Tsuchiya, Y., Venco, P., Pasqualato, S., . . . Tiranti, V. (2014). Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation. The American Journal of Human Genetics, 94(1), 11-22. Retrieved February 4, 2016, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882905/

[6] Genome RNAi phenotype entry for C17orf47 [http://www.genomernai.org/v15/geneDetails/284083]

[7] KEGG (Kyoto Encyclopedia of Genes and Genomes) entry for C17orf47 [http://www.genome.jp/dbget-bin/www_bget?hsa:284083]

[8] EMBL-EBI (European Bioinformatics Institute) entry for DUF4655 [http://pfam.xfam.org/family/PF15548]

[9] Ensembl entry for C17orf47 [http://useast.ensembl.org/Homo_sapiens/Transcript/Domains?db=core;g=ENSG00000181013;r=17:58541587-58544368;t=ENST00000321691]