词条 | C9orf25 | |||||||||||||||||||||||||||||||||||||||||||
释义 |
Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene.[1] The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood. GeneLocationIn humans, C9orf25 is located at the 9p13.3 position on chromosome 9.[2] The gene is encoded on the sense strand (-) spanning the chromosomal locus from base pair 34,502,909 to 34,398,027.[1][3] The span of the gene is 104,882 base pairs[4][5][6][7][8][9][10] Transcript variantsIn humans there are 8 main transcript variants of the FAM219A gene.[3] All of these transcripts have varying lengths and splice sites with transcript variant 1 being the longest and most abundant.[1][3] Only four of these transcripts encode for a protein product.[11] HomologyOrthologsThe C9orf25 gene has orthologs in a wide variety of Eukaryotic organisms, including invertebrates. This gene has not been found in plants, fungi or protists.[13] C9orf25 is a slowly evolving gene.[12] It is also highly conserved through out all of its known orthologs. ParalogsC9orf25 has a paralog FAM219B which is located on the long arm of chromosome 9 and is 198 amino acids long.[14] The C9orf25 and FAM219B genes duplicated and diverged between 684 and 797 million years ago. ProteinGeneral propertiesThe C9orf25 protein is composed of 185 amino acids. It has a molecular weight of 20.4 kilodaltons and an isoelectric point of 4.47.[15] It is a member of the FAM219 super family. The entire protein is still considered to be a domain of unknown function. Protein localizationC9orf25 has no signal sequence and remains in the cytosol.[15] Conserved motifs and post-translational modificationsThe following are experimental post-transitional modifications for the C9orf25 protein:[16]
Secondary structureThe secondary structure of the gene is predicted to have two stretches of alpha helices and one beta strand. The majority of the secondary structure of gene is random coils.[17] ExpressionThe C9orf25 gene has medium to high expression in most tissues of the body.[18] The gene has particularly high expression in the nervous, digestive and male reproductive systems.[19] Interacting proteinsThe C9orf25 gene has many different interactions with a variety of other proteins that have an assortment of functions.[20][21] The main ones that are listed on at least two reviewed sources are shown below.
Clinical significanceThe C9orf25 protein is associated with several disease causing proteins, however does not seem to be responsible for disease on its own.[2][11] The gene seems to have higher expression in metastatic cells.[18] References1. ^1 2 {{Cite web|url=https://www.ncbi.nlm.nih.gov/gene/203259|title=FAM219A family with sequence similarity 219 member A [Homo sapiens (human)] - Gene - NCBI|website=ncbi.nlm.nih.gov|access-date=2018-05-05}} 2. ^1 {{Cite web|url=http://useast.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000164970;r=9:34396977-34459777|title=Chromosome 9: 34,396,977-34,459,777 - Region in detail - Homo sapiens - Ensembl genome browser 92|website=useast.ensembl.org|language=en-gb|access-date=2018-05-06}} 3. ^1 2 {{Cite web|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=c9orf25&submit=Go|title=AceView: Gene:C9orf25, a comprehensive annotation of human, mouse and worm genes with mRNAs or ESTsAceView.|last=mieg@ncbi.nlm.nih.gov|first=Danielle Thierry-Mieg and Jean Thierry-Mieg, NCBI/NLM/NIH,|website=ncbi.nlm.nih.gov|access-date=2018-05-06}} 4. ^{{Cite web|url=https://www.ebi.ac.uk/Tools/msa/clustalo/|title=Clustal Omega < Multiple Sequence Alignment < EMBL-EBI|last=EMBL-EBI|website=ebi.ac.uk|language=en|access-date=2018-05-11}} 5. ^{{Cite web|url=http://www.genome.jp/tools-bin/clustalw|title=Multiple Sequence Alignment - CLUSTALW|website=genome.jp|access-date=2018-05-11}} 6. ^{{Cite web|url=https://www.expasy.org|title=ExPASy: SIB Bioinformatics Resource Portal - Home|website=expasy.org|language=en-US|access-date=2018-05-11}} 7. ^{{Cite web|url=https://npsa-prabi.ibcp.fr/|title=NPS@: Welcome to Network Protein Sequence @nalysis at IBCP, FRANCE|website=npsa-prabi.ibcp.fr|access-date=2018-05-11}} 8. ^{{Cite web|url=http://www.timetree.org|title=TimeTree :: The Timescale of Life|website=timetree.org|access-date=2018-05-11}} 9. ^{{Cite web|url=https://www.genomatix.de/cgi-bin|title=Genomatix|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}} 10. ^{{Cite web|url=http://unafold.rna.albany.edu/?q=mfold/RNA-Folding-Form|title=RNA Folding Form {{!}} mfold.rit.albany.edu|website=unafold.rna.albany.edu|language=en|access-date=2018-05-11}} 11. ^1 {{Cite web|url=https://www.genecards.org/cgi-bin/carddisp.pl?gene=FAM219A&keywords=FAM219A|title=FAM219A Gene - GeneCards {{!}} F219A Protein {{!}} F219A Antibody|last=Database|first=GeneCards Human Gene|website=genecards.org|access-date=2018-05-06}} 12. ^1 {{Cite web|url=https://genome.ucsc.edu|title=UCSC Genome Browser Home|website=genome.ucsc.edu|access-date=2018-05-06}} 13. ^{{Cite web|url=https://blast.ncbi.nlm.nih.gov/Blast.cgi|title=BLAST: Basic Local Alignment Search Tool|website=blast.ncbi.nlm.nih.gov|access-date=2018-05-06}} 14. ^{{Cite web|url=https://www.ncbi.nlm.nih.gov/protein/Q5XKK7.1|title=RecName: Full=Protein FAM219B - Protein - NCBI|website=ncbi.nlm.nih.gov|access-date=2018-05-06}} 15. ^1 {{Cite web|url=https://www.ebi.ac.uk/Tools/seqstats/saps/|title=SAPS < Sequence Statistics < EMBL-EBI|last=EMBL-EBI|website=ebi.ac.uk|language=en|access-date=2018-05-06}} 16. ^{{Cite web|url=http://www.cbs.dtu.dk/databases/PTMpredictions/|title=PTM prediction tools|website=cbs.dtu.dk|language=en|access-date=2018-05-06}} 17. ^{{Cite web|url=https://npsa-prabi.ibcp.fr/cgi-bin/npsa_automat.pl?page=/NPSA/npsa_server.html|title=NPS@: Welcome to Network Protein Sequence @nalysis at IBCP, FRANCE|last=UCBL|first=Institut de Biologie et Chimie des Proteines - UMR5086 - CNRS -|website=npsa-prabi.ibcp.fr|access-date=2018-05-06}} 18. ^1 2 {{Cite web|url=https://www.ncbi.nlm.nih.gov/geoprofiles|title=Home - GEO Profiles - NCBI|website=ncbi.nlm.nih.gov|access-date=2018-05-06}} 19. ^{{Cite web|url=https://www.proteinatlas.org/ENSG00000164970-FAM219A/tissue|title=Tissue expression of FAM219A - Summary - The Human Protein Atlas|website=proteinatlas.org|access-date=2018-05-06}} 20. ^{{Cite web|url=https://thebiogrid.org|title=BioGRID {{!}} Database of Protein, Chemical, and Genetic Interactions|last=Lab|first=Mike Tyers|website=thebiogrid.org|language=en|access-date=2018-05-06}} 21. ^{{Cite web|url=http://hintdb.hgc.jp/htp/proteins/Q8IW50.html|title=HitPredict - High confidence protein-protein interactions|website=hintdb.hgc.jp|access-date=2018-05-06}} 1 : Proteins |
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