C9orf64

Last updated
C9orf64
Identifiers
Aliases C9orf64 , chromosome 9 open reading frame 64
External IDs OMIM: 611342 MGI: 1917403 HomoloGene: 13005 GeneCards: C9orf64
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]

Related Research Articles

<span class="mw-page-title-main">TSR3</span> Hypothetical human protein

TSR3, or TSR3 Ribosome Maturation Factor, is a hypothetical human protein found on chromosome 16. Its protein is 312 amino acids long and its cDNA has 1214 base pairs. It was previously designated C16orf42.

<span class="mw-page-title-main">Transmembrane protein 151b</span> Transmembrane protein

Transmembrane protein 151B is a protein that in humans is encoded by the TMEM151B gene.

<span class="mw-page-title-main">FAM63A</span> Protein-coding gene in the species Homo sapiens

Family with sequence similarity 63, member A is a protein that, is encoded by the FAM63A gene in humans,. It is located on the minus strand of chromosome 1 at locus 1q21.3.

C5orf34 is a protein that in humans is encoded by the C5orf34 gene (5p12).

C6orf222 is a protein that in humans is encoded by the C6orf222 gene (6p21.31). C6orf222 is conserved in mammals, birds and reptiles with the most distant ortholog being the green sea turtle, Chelonia mydas. The C6orf222 protein contains one mammalian conserved domain: DUF3293. The protein is also predicted to contain a BH3 domain, which has predicted conservation in distant orthologs from the clade Aves.

<span class="mw-page-title-main">C1orf74</span> Protein-coding gene in the species Homo sapiens

UPF0739 protein C1orf74 is a protein that in humans is encoded by the C1orf74 gene.

Chromosome 16 open reading frame 95 (C16orf95) is a gene which in humans encodes the protein C16orf95. It has orthologs in mammals, and is expressed at a low level in many tissues. C16orf95 evolves quickly compared to other proteins.

The coiled-coil domain containing 142 (CCDC142) is a gene which in humans encodes the CCDC142 protein. The CCDC142 gene is located on chromosome 2, spans 4339 base pairs and contains 9 exons. The gene codes for the coiled-coil domain containing protein 142 (CCDC142), whose function is not yet well understood. There are two known isoforms of CCDC142. CCDC142 proteins produced from these transcripts range in size from 743 to 665 amino acids and contain signals suggesting protein movement between the cytosol and nucleus. Homologous CCDC142 genes are found in many animals including vertebrates and invertebrates but not fungus, plants, protists, archea, or bacteria. Although the function of this protein is not well understood, it contains a coiled-coil domain and a RINT1_TIP1 motif located within the coiled-coil domain.

<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

PRR29 is a protein encoded by the PRR29 gene located in humans on chromosome 17 at 17q23.

Cardiac-enriched FHL2-interacting protein (CEFIP) is a protein encoded by the gene C10orf71 on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.

<span class="mw-page-title-main">TMEM44</span> Protein-coding gene in the species Homo sapiens

TMEM44 is a protein that in humans is encoded by the TMEM44 gene. DKFZp686O18124 is a synonym of TMEM44.

<span class="mw-page-title-main">C9orf25</span> Protein-coding gene in the species Homo sapiens

Chromosome 9 open reading frame 25 (C9orf25) is a domain that encodes the FAM219A gene. The terms FAM219A and C9orf25 are aliases and can be used interchangeably. The function of this gene is not yet completely understood.

<span class="mw-page-title-main">C4orf51</span> Protein-coding gene in the species Homo sapiens

Chromosome 4 open reading frame 51 (C4orf51) is a protein which in humans is encoded by the C4orf51 gene.

Chromosome 1 open reading frame (C1orf167) is a protein which in humans is encoded by the C1orf167 gene. The NCBI accession number is NP_001010881. The protein is 1468 amino acids in length with a molecular weight of 162.42 kDa. The mRNA sequence was found to be 4689 base pairs in length.

<span class="mw-page-title-main">C1orf122</span> Protein-coding gene in the species Homo sapiens

C1orf122 is a gene in the human genome that encodes the cytosolic protein ALAESM.. ALAESM is present in all tissue cells and highly up-regulated in the brain, spinal cord, adrenal gland and kidney. This gene can be expressed up to 2.5 times the average gene in its highly expressed tissues. Although the function of C1orf122 is unknown, it is predicted to be used for mitochondria localization.

TMEM275 is a protein that in humans is encoded by the TMEM275 gene. TMEM275 has two, highly-conserved, helical trans-membrane regions. It is predicted to reside within the plasma membrane or the endoplasmic reticulum's membrane.

<span class="mw-page-title-main">C14orf180</span> Protein-coding gene in the species Homo sapiens

C14orf180 is found on chromosome 14 in humans: 14q32.33. It consists of 1832 bp and 160 amino acids post translation. There is a total number of 6 exons. C14orf180 is also known as NRAC, C14orf77, and Chromosome 14 Open Reading Frame 180.

<span class="mw-page-title-main">C4orf19</span> Human C4orf19 gene

C4orf19 is a protein which in humans is encoded by the C4orf19 gene.

<span class="mw-page-title-main">C4orf36</span> Draft for page on C4orf36 gene/protein

C4orf36 is a protein that in humans is encoded by the c4orf36 gene.

<span class="mw-page-title-main">LRRC74A</span> Protein-coding gene

Leucine-rich repeat-containing protein 74A (LRRC74A), is a protein encoded by the LRRC74A gene. The protein LRRC74A is localized in the cytoplasm. It has a calculated molecular weight of approximately 55 kDa. The LRRC74A protein is nominally expressed in the testis, salivary gland, and pancreas.

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). "NCBI: PubMed". 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".
  14. ↑ "PDB:8DL3".
  15. ↑ "Entrez Gene: C9orf64 chromosome 9 open reading frame 64 [Homo sapiens]".

Further reading

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