NUFIP1

Nuclear fragile X mental retardation-interacting protein 1 is a protein that in humans is encoded by the NUFIP1 gene.^[5][6][7]

NUFIP1
Identifiers
Aliases	NUFIP1, NUFIP, bA540M5.1, FMR1 interacting protein 1, nuclear FMR1 interacting protein 1, Rsa1
External IDs	OMIM: 604354; MGI: 1351474; HomoloGene: 8216; GeneCards: NUFIP1; OMA:NUFIP1 - orthologs
Gene location (Human) Chr. Chromosome 13 (human)[1] Band 13q14.12 Start 44,939,249 bp[1] End 44,989,471 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 D3 Start 76,348,331 bp[2] End 76,374,819 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell gonad secondary oocyte ventricular zone testicle ganglionic eminence Brodmann area 23 gastrocnemius muscle Achilles tendon islet of Langerhans Top expressed in primitive streak epiblast renal corpuscle medullary collecting duct external carotid artery Gonadal ridge internal carotid artery Paneth cell abdominal wall endothelial cell of lymphatic vessel More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ATPase binding identical protein binding protein-macromolecule adaptor activity snoRNA binding RNA binding metal ion binding DNA binding nucleic acid binding Cellular component nuclear matrix nucleus pre-snoRNP complex perichromatin fibrils nucleolus cytosolic ribosome transcription elongation factor complex fibrillar center presynaptic active zone protein-containing complex synapse Biological process box C/D snoRNP assembly positive regulation of transcription by RNA polymerase II RNA processing protein complex oligomerization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26747 27275 Ensembl ENSG00000083635 ENSMUSG00000022009 UniProt Q9UHK0 Q9QXX8 RefSeq (mRNA) NM_012345 NM_013745 RefSeq (protein) NP_036477 NP_038773 Location (UCSC) Chr 13: 44.94 – 44.99 Mb Chr 14: 76.35 – 76.37 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Interactions

NUFIP1 has been shown to interact with:

• BRCA1,^[8]
• Cyclin T1,^[8] and
• FMR1.^[5][9]

References

1. GRCh38: Ensembl release 89: ENSG00000083635 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022009 – 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. Bardoni B, Schenck A, Mandel JL (Jan 2000). "A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein". Hum Mol Genet. 8 (13): 2557–66. doi:10.1093/hmg/8.13.2557. PMID 10556305.
6. Bardoni B, Giglio S, Schenck A, Rocchi M, Mandel JL (Aug 2000). "Assignment of NUFIP1 (nuclear FMRP interacting protein 1) gene to chromosome 13q14 and assignment of a pseudogene to chromosome 6q12". Cytogenet Cell Genet. 89 (1–2): 11–3. doi:10.1159/000015580. PMID 10894927. S2CID 38381172.
7. "Entrez Gene: NUFIP1 nuclear fragile X mental retardation protein interacting protein 1".
8. Cabart P, Chew HK, Murphy S (Jul 2004). "BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II". Oncogene. 23 (31): 5316–29. doi:10.1038/sj.onc.1207684. PMID 15107825. S2CID 1338899.
9. Bardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL (Jul 2003). "82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. Genet. 12 (14): 1689–98. doi:10.1093/hmg/ddg181. PMID 12837692.

Further reading

• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (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.
• Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
• Cabart P, Chew HK, Murphy S (2004). "BRCA1 cooperates with NUFIP and P-TEFb to activate transcription by RNA polymerase II". Oncogene. 23 (31): 5316–29. doi:10.1038/sj.onc.1207684. PMID 15107825. S2CID 1338899.
• Bardoni B, Willemsen R, Weiler IJ, Schenck A, Severijnen LA, Hindelang C, Lalli E, Mandel JL (2003). "NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes". Exp. Cell Res. 289 (1): 95–107. doi:10.1016/S0014-4827(03)00222-2. PMID 12941608.
• Bardoni B, Castets M, Huot ME, Schenck A, Adinolfi S, Corbin F, Pastore A, Khandjian EW, Mandel JL (2003). "82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization". Hum. Mol. Genet. 12 (14): 1689–98. doi:10.1093/hmg/ddg181. PMID 12837692.