C9orf64

C9orf64 (Chromosome 9 open reading frame 64) is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein.[5] 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.[5] C9orf64 has been found in 5 different splice variants.[6]

C9orf64
Identifiers
AliasesC9orf64, chromosome 9 open reading frame 64
External IDsOMIM: 611342 MGI: 1917403 HomoloGene: 13005 GeneCards: C9orf64
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q21.32Start83,938,311 bp[1]
End83,956,986 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

84267

70153

Ensembl

ENSG00000165118

ENSMUSG00000021550

UniProt

Q5T6V5

G3X8U3

RefSeq (mRNA)

NM_032307
NM_001317997

NM_027335

RefSeq (protein)

NP_001304926
NP_115683

NP_081611

Location (UCSC)Chr 9: 83.94 – 83.96 MbChr 13: 58.38 – 58.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Expression of this gene is highest in the duodenum and small intestine, and it is also expressed in 24 other tissues. [7]

22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and muscular hypotonia.[8]

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.[9][10] The DUF position on the human protein is from amino acid 53 to 341.[9] Bioinformatic tools at ExPASy predicted a second peroxisomal targeting signal.[11]

Gene locus

C9orf64 is located on chromosome 9q21.32.[5] The genes closest to C9orf64 on the long arm of chromosome 9 include GKAP1, KIF27, HNRNPK, RMI1, and a MicroRNA MIR7-1.[12]

Homology

C9orf64 is only found in eukaryotes. Orthologs have been found from primates to fungi and plants.[10]

References
  1. GRCh38: Ensembl release 89: ENSG00000165118 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000021550 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: C9orf64".
  6. "NCBI: AceView".
  7. "C9orf64 chromosome 9 open reading frame 64 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
  8. ClinVar. "C9orf64[gene] - ClinVar - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
  9. "Sanger: Welcome Trust Institute". Archived from the original on 2012-11-03.
  10. "BLAST results for LOC84267 [Homo sapiens]".
  11. "ExPASy Proteomics Server".
  12. "Entrez Gene: C9orf64 crhomosome 9 open reading frame 64 [Homo sapiens]".

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.
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