PUM1

Pumilio homolog 1 is a protein that in humans is encoded by the PUM1 gene.

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; OMA:PUM1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1p35.2 Start 30,931,506 bp End 31,065,991 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in dorsal motor nucleus of vagus nerve Region I of hippocampus proper germinal epithelium superficial temporal artery visceral pleura tibia inferior olivary nucleus gingival epithelium hair follicle parietal pleura 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
Wikidata
View/Edit Human View/Edit Mouse

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.

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.