RCL1

Protein-coding gene in the species Homo sapiens
RCL1
Identifiers
AliasesRCL1, RNAC, RPCL1, RNA terminal phosphate cyclase like 1
External IDsOMIM: 611405; MGI: 1913275; HomoloGene: 4217; GeneCards: RCL1; OMA:RCL1 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for RCL1
Genomic location for RCL1
Band9p24.1Start4,792,944 bp[1]
End4,885,917 bp[1]
Gene location (Mouse)
Chromosome 19 (mouse)
Chr.Chromosome 19 (mouse)[2]
Chromosome 19 (mouse)
Genomic location for RCL1
Genomic location for RCL1
Band19|19 C1Start29,078,775 bp[2]
End29,121,329 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • buccal mucosa cell

  • right lobe of liver

  • tendon of biceps brachii

  • Achilles tendon

  • tibial arteries

  • body of pancreas

  • cartilage tissue

  • skin of leg

  • skin of abdomen

  • left coronary artery
Top expressed in
  • left lobe of liver

  • embryo

  • embryo

  • epiblast

  • somite

  • morula

  • morula

  • primitive streak

  • yolk sac

  • fetal liver hematopoietic progenitor cell
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • catalytic activity
  • RNA-3'-phosphate cyclase activity
  • endoribonuclease activity
Cellular component
  • nucleus
  • nucleoplasm
  • nucleolus
Biological process
  • RNA processing
  • ribosome biogenesis
  • endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • rRNA processing
  • endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
  • biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

10171

59028

Ensembl

ENSG00000120158

ENSMUSG00000024785

UniProt

Q9Y2P8

Q9JJT0

RefSeq (mRNA)

NM_001286699
NM_001286700
NM_001286701
NM_005772

NM_021525

RefSeq (protein)

NP_001273628
NP_001273629
NP_001273630
NP_005763

NP_067500

Location (UCSC)Chr 9: 4.79 – 4.89 MbChr 19: 29.08 – 29.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

RNA 3'-terminal phosphate cyclase-like protein is an enzyme that in humans is encoded by the RCL1 gene.[5]

Copy number variants to the RCL1 gene are associated with a range of neuropsychiatric phenotypes,[6] and a missense variant associated with depression.[7]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000120158 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024785 – 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: RCL1 RNA terminal phosphate cyclase-like 1".
  6. ^ Brownstein CA, Smith RS, Rodan LH, et al. (May 2021). "RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes". Molecular Psychiatry. 26 (5): 1706–1718. doi:10.1038/s41380-021-01035-y. PMC 8159744. PMID 33597717.
  7. ^ Amin N, de Vrij FM, Baghdadi M, et al. (May 2018). "A rare missense variant in RCL1 segregates with depression in extended families". Molecular Psychiatry. 23 (5): 1120–1126. doi:10.1038/mp.2017.49. PMC 5984098. PMID 28322274.

Further reading

  • Kimura K, Wakamatsu A, Suzuki Y, et al. (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Andersen JS, Lam YW, Leung AK, et al. (January 2005). "Nucleolar proteome dynamics". Nature. 433 (7021): 77–83. Bibcode:2005Natur.433...77A. doi:10.1038/nature03207. PMID 15635413. S2CID 4344740.
  • Andersen JS, Lyon CE, Fox AH, et al. (January 2002). "Directed proteomic analysis of the human nucleolus". Current Biology. 12 (1): 1–11. Bibcode:2002CBio...12....1A. doi:10.1016/S0960-9822(01)00650-9. PMID 11790298. S2CID 14132033.
  • Zhang QH, Ye M, Wu XY, et al. (October 2000). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells". Genome Research. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
  • Billy E, Wegierski T, Nasr F, et al. (May 2000). "Rcl1p, the yeast protein similar to the RNA 3'-phosphate cyclase, associates with U3 snoRNP and is required for 18S rRNA biogenesis". The EMBO Journal. 19 (9): 2115–26. doi:10.1093/emboj/19.9.2115. PMC 305690. PMID 10790377.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
  • Genschik P, Billy E, Swianiewicz M, et al. (May 1997). "The human RNA 3'-terminal phosphate cyclase is a member of a new family of proteins conserved in Eucarya, Bacteria and Archaea". The EMBO Journal. 16 (10): 2955–67. doi:10.1093/emboj/16.10.2955. PMC 1169903. PMID 9184239.
  • Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Vicente O, Filipowicz W (September 1988). "Purification of RNA 3'-terminal phosphate cyclase from HeLa cells. Covalent modification of the enzyme with different nucleotides". European Journal of Biochemistry. 176 (2): 431–9. doi:10.1111/j.1432-1033.1988.tb14300.x. PMID 3416880.

External links


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