RCL1

RCL1
Identifiers
Aliases	RCL1 , RNAC, RPCL1, RNA terminal phosphate cyclase like 1
External IDs	OMIM: 611405; MGI: 1913275; HomoloGene: 4217; GeneCards: RCL1; OMA:RCL1 - orthologs
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9p24.1 Start 4,792,944 bp [1] End 4,885,917 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 C1 Start 29,078,775 bp [2] End 29,121,329 bp [2]
RNA expression pattern Bgee Human Mouse (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 Species Human Mouse 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 Mb Chr 19: 29.08 – 29.12 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

• Fibrillarin
• Small nucleolar RNA U3
• RRP9
• UTP6
• UTP11L
• UTP14A
• UTP15

References

1. GRCh38: Ensembl release 89: ENSG00000120158 – Ensembl, May 2017
2. 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

• RCL1 human gene location in the UCSC Genome Browser .
• RCL1 human gene details in the UCSC Genome Browser .