C9orf64

Last updated

C9orf64
Identifiers
Aliases C9orf64 , chromosome 9 open reading frame 64
External IDs OMIM: 611342; MGI: 1917403; HomoloGene: 13005; GeneCards: C9orf64; OMA:C9orf64 - orthologs
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 Mb Chr 13: 58.53 – 58.53 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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 a queuosine-nucleotide N-glycosylase/hydrolase (QNG1) that releases queuine from Q-5'-monophosphate, and this activity is required for the salvage of queuine from exogenous Queuosine by S. pombe and HeLa cells. [6] Some evidence from orthologs indicates it may be involved in tRNA processing and recycling. 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. [7]

Contents

Expression of this gene is highest in the duodenum and small intestine, and it is also expressed in 24 other tissues. [8]

22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and muscular hypotonia. [9]

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. [10] [11] The DUF position on the human protein is from amino acid 53 to 341. [10] Bioinformatic tools at ExPASy predicted a second peroxisomal targeting signal. [12] Crystal structures of wild-type human QNG1 and QNG1 in complex with queuine have been deposited with the Protein Data Bank under accession numbers 7UGK and 8DL3. [13] [14] The DUF position on the human protein is from amino acid 53 to 341. [10]

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. [15]

Homology

C9orf64 is only found in eukaryotes. Orthologs have been found from primates to fungi and plants. [11]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000165118 – Ensembl, May 2017
  2. 1 2 3 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. 1 2 3 "Entrez Gene: C9orf64".
  6. ↑ Hung SH, Elliott GI, Ramkumar TR, Burtnyak L, McGrenaghan CJ, Alkuzweny S, Quaiyum S, Iwata-Reuyl D, Pan X, Green BD, Kelly VP, De Crécy-Lagard V, Swairjo MA (2023). "Structural basis of Qng1-mediated salvage of the micronutrient queuine from queuosine-5′-monophosphate as the biological substrate". Nucleic Acids Research. 51 (2): 935–951. doi:10.1093/nar/gkac1231. PMC   9881137 . PMID   36610787.
  7. ↑ "NCBI: AceView".
  8. ↑ "C9orf64 chromosome 9 open reading frame 64 [Homo sapiens (human)] - Gene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
  9. ↑ ClinVar. "C9orf64[gene] - ClinVar - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2018-06-02.
  10. 1 2 3 "Sanger: Welcome Trust Institute". Archived from the original on 2012-11-03.
  11. 1 2 "BLAST results for LOC84267 [Homo sapiens]".
  12. ↑ "ExPASy Proteomics Server".
  13. ↑ " "PDB:7UGK".[ permanent dead link ]
  14. ↑ "PDB:8DL3".
  15. ↑ "Entrez Gene: C9orf64 chromosome 9 open reading frame 64 [Homo sapiens]".

Further reading

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