C9orf64: Difference between revisions
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'''C9orf64''' (Chromosome 9 open reading frame 64) is a [[gene]] located on [[chromosome 9]], that in humans encodes the [[protein]] | '''C9orf64''' (Chromosome 9 open reading frame 64) is a [[gene]] located on [[chromosome 9]], that in humans encodes the [[protein]] queuosine salvage protein.<ref name="entrez">{{cite web|url=https://www.ncbi.nlm.nih.gov/gene/84267|title=Entrez Gene: C9orf64|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref> The function and biological process of the queuosine salvage protein is not well understood by the scientific community, but some evidence from orthologs indicates it may be involved in [[Transfer RNA|tRNA]] processing. The most common [[messenger RNA|mRNA]] contains 4 coding [[exon]]s, and it has 2 additional alternatively spliced exons.<ref name="entrez" /> C9orf64 has been found in 5 different [[alternative splicing|splice variants]].<ref>{{cite web|title=NCBI: AceView|url=https://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&c=Gene&l=C9orf64}}</ref> | ||
Expression of this gene is highest in the duodenum and small intestine, and it is also expressed in 24 other tissues. <ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/gene/84267|title=C9orf64 chromosome 9 open reading frame 64 [Homo sapiens (human)] - Gene - NCBI|website=www.ncbi.nlm.nih.gov|access-date=2018-06-02}}</ref> | |||
22 variants have been annotated in the NIH Database, [[wikidata:Q20023123|ClinVar]], linked to disease conditions such as seizures, developmental delay, and muscular hypotonia.<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/clinvar/?term=C9orf64%5Bgene%5D|title=C9orf64[gene] - ClinVar - NCBI|last=ClinVar|website=www.ncbi.nlm.nih.gov|access-date=2018-06-02}}</ref> | |||
==Protein== | ==Protein== | ||
Queuosine salvage protein is 341 [[amino acid]]s long with a [[molecular mass|molecular weight]] of 39,029 Daltons and an [[isoelectric point]] of 5.61. It is a member of the [[Domain of unknown function|DUF2419]] superfamily.<ref name="sanger">{{cite web|title=Sanger: Welcome Trust Institute|url=http://pfam.sanger.ac.uk/family/PF10343.3}}{{Dead link|date=November 2018 |bot=InternetArchiveBot |fix-attempted=yes }}</ref><ref name="NCBI: National Center for Biotechnology Information">{{cite web|title=BLAST results for LOC84267 [Homo sapiens]|url=http://blast.ncbi.nlm.nih.gov/Blast.cgi}}</ref> The DUF position on the human protein is from amino acid 53 to 341.<ref name = "sanger"/> | |||
[[Bioinformatics|Bioinformatic]] tools at ExPASy predicted a [[Peroxisomal targeting signal|second peroxisomal targeting signal]].<ref>{{cite web|title=ExPASy Proteomics Server|url=http://expasy.org/}}</ref> | [[Bioinformatics|Bioinformatic]] tools at ExPASy predicted a [[Peroxisomal targeting signal|second peroxisomal targeting signal]].<ref>{{cite web|title=ExPASy Proteomics Server|url=http://expasy.org/}}</ref> | ||
Revision as of 12:43, 15 November 2018
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C9orf64 (Chromosome 9 open reading frame 64) is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein.[1] The function and biological process of the queuosine salvage protein is not well understood by the scientific community, but some evidence from orthologs indicates it may be involved in tRNA processing. The most common mRNA contains 4 coding exons, and it has 2 additional alternatively spliced exons.[1] C9orf64 has been found in 5 different splice variants.[2]
Expression of this gene is highest in the duodenum and small intestine, and it is also expressed in 24 other tissues. [3]
22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and muscular hypotonia.[4]
Protein
Queuosine salvage protein is 341 amino acids long with a molecular weight of 39,029 Daltons and an isoelectric point of 5.61. It is a member of the DUF2419 superfamily.[5][6] The DUF position on the human protein is from amino acid 53 to 341.[5] Bioinformatic tools at ExPASy predicted a second peroxisomal targeting signal.[7]
Gene locus
C9orf64 is located on chromosome 9q21.32.[1] The genes closest to C9orf64 on the long arm of chromosome 9 include GKAP1, KIF27, HNRNPK, RMI1, and a MicroRNA MIR7-1.[8]
Homology
C9orf64 is only found in eukaryotes. Orthologs have been found from primates to fungi and plants.[6]
References
- ↑ 1.0 1.1 1.2 "Entrez Gene: C9orf64".
- ↑ "NCBI: AceView".
- ↑ "C9orf64 chromosome 9 open reading frame 64 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
- ↑ ClinVar. "C9orf64[gene] - ClinVar - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
- ↑ 5.0 5.1 "Sanger: Welcome Trust Institute".[permanent dead link]
- ↑ 6.0 6.1 "BLAST results for LOC84267 [Homo sapiens]".
- ↑ "ExPASy Proteomics Server".
- ↑ "Entrez Gene: C9orf64 crhomosome 9 open reading frame 64 [Homo sapiens]".
External links
- Human C9orf64 genome location and C9orf64 gene details page in the UCSC Genome Browser.
Further reading
- Cai LY, Abe M, Izumi S, Imura M, Yasugi T, Ushijima T (2007). "Identification of PRTFDC1 silencing and aberrant promoter methylation of GPR150, ITGA8 and HOXD11 in ovarian cancers". Life Sciences. 80 (16): 1458–65. doi:10.1016/j.lfs.2007.01.015. PMID 17303177.
- Sweetser DA, Peniket AJ, Haaland C, Blomberg AA, Zhang Y, Zaidi ST, Dayyani F, Zhao Z, Heerema NA, Boultwood J, Dewald GW, Paietta E, Slovak ML, Willman CL, Wainscoat JS, Bernstein ID, Daly SB (2005). "Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia". Genes, Chromosomes and Cancer. 44 (3): 279–91. doi:10.1002/gcc.20236. PMID 16015647.