PUM1

PUM1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1IB2, 1M8W, 1M8X, 1M8Y, 1M8Z, 2YJY, 3BSB, 3BSX, 3Q0L, 3Q0M, 3Q0N, 3Q0O, 3Q0P
Identifiers
Aliases	PUM1 , HSPUM, PUMH, PUMH1, PUML1, pumilio RNA binding family member 1, SCA47
External IDs	OMIM: 607204 MGI: 1931749 HomoloGene: 22830 GeneCards: PUM1
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p35.2 Start 30,931,506 bp [1] End 31,065,991 bp [1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Region I of hippocampus proper germinal epithelium superficial temporal artery visceral pleura tibia inferior olivary nucleus hair follicle parietal pleura middle temporal gyrus Brodmann area 23 n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function mRNA 3'-UTR binding protein binding RNA binding miRNA binding Cellular component cytoplasm P-body cytoplasmic stress granule nucleus nucleoplasm cytosol nuclear speck Biological process regulation of gene silencing by miRNA cell differentiation regulation of mRNA stability adult locomotory behavior positive regulation of gene silencing by miRNA stem cell differentiation regulation of cell cycle posttranscriptional gene silencing regulation of chromosome segregation positive regulation of RIG-I signaling pathway mRNA destabilization spermatogenesis regulation of translation posttranscriptional regulation of gene expression production of miRNAs involved in gene silencing by miRNA Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9698 80912 Ensembl ENSG00000134644 ENSMUSG00000028580 UniProt Q14671 Q80U78 RefSeq (mRNA) NM_014676 NM_001020658 NM_001159603 NM_001159604 NM_001159605 NM_001159606 NM_030722 RefSeq (protein) NP_001018494 NP_055491 NP_001153075 NP_001153076 NP_001153077 NP_001153078 NP_109647 NP_001343493 NP_001343494 NP_001343495 Location (UCSC) Chr 1: 30.93 – 31.07 Mb n/a PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Pumilio homolog 1 is a protein that in humans is encoded by the PUM1 gene. ^[4]

Function

This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans . The encoded protein contains a sequence-specific RNA binding domain composed of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. ^[4]

References

1. GRCh38: Ensembl release 89: ENSG00000134644 - Ensembl, May 2017
2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Entrez Gene: PUM1 pumilio homolog 1 (Drosophila)".

Further reading

• Spassov DS, Jurecic R (2004). "The PUF family of RNA-binding proteins: does evolutionarily conserved structure equal conserved function?". IUBMB Life. 55 (7): 359–66. doi: 10.1080/15216540310001603093 . PMID   14584586.
• Nagase T, Miyajima N, Tanaka A, et al. (1995). "Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1". DNA Res. 2 (1): 37–43. doi: 10.1093/dnares/2.1.37 . PMID   7788527.
• Maruyama K, Sugano S (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.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (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.
• Wang X, Zamore PD, Hall TM (2001). "Crystal structure of a Pumilio homology domain". Mol. Cell. 7 (4): 855–65. doi: 10.1016/S1097-2765(01)00229-5 . PMID   11336708.
• Wang X, McLachlan J, Zamore PD, Hall TM (2002). "Modular recognition of RNA by a human pumilio-homology domain". Cell. 110 (4): 501–12. doi: 10.1016/S0092-8674(02)00873-5 . PMID   12202039. S2CID   13644449.
• Spassov DS, Jurecic R (2003). "Cloning and comparative sequence analysis of PUM1 and PUM2 genes, human members of the Pumilio family of RNA-binding proteins". Gene. 299 (1–2): 195–204. doi:10.1016/S0378-1119(02)01060-0. PMID   12459267.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Dazard JE, Gal H, Amariglio N, et al. (2003). "Genome-wide comparison of human keratinocyte and squamous cell carcinoma responses to UVB irradiation: implications for skin and epithelial cancer". Oncogene. 22 (19): 2993–3006. doi: 10.1038/sj.onc.1206537 . PMID   12771951.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID   15146197. S2CID   27764390.
• Colland F, Jacq X, Trouplin V, et al. (2004). "Functional Proteomics Mapping of a Human Signaling Pathway". Genome Res. 14 (7): 1324–32. doi:10.1101/gr.2334104. PMC   442148 . PMID   15231748.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Jordanova A, Irobi J, Thomas FP, et al. (2006). "Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy". Nat. Genet. 38 (2): 197–202. doi:10.1038/ng1727. PMID   16429158. S2CID   16668375.
• Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID   16710414.
• Lim J, Hao T, Shaw C, et al. (2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID   16713569. S2CID   13709685.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983. S2CID   7827573.