NFIB (gene)
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Nuclear factor 1 B-type is a protein that in humans is encoded by the NFIB gene.[5][6]
NFIB haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX.[7]
Embryonic Development
The NFIB gene is a part of the NFI gene complex that includes three other genes (
Through knockout experiments, researchers found that mice without the NFIB gene have severely underdeveloped lungs.
Absence of one copy is associated with macrocephaly and intellectual disability. This associated was confirmed in mouse modelswhere deletion of one copy resulted in enlargement of the brain while preserving its overall organisation.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000147862 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000008575 - Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 7590749.
- ^ "Entrez Gene: NFIB nuclear factor I/B".
- PMID 30388402.
- ^ PMID 9056636.
- ^ S2CID 10396584.
- ^ Database, GeneCards Human Gene. "NFIB Gene - GeneCards | NFIB Protein | NFIB Antibody". www.genecards.org. Retrieved 2017-04-09.
- ^ PMID 15632069.
- PMID 30388402.
Further reading
- Liu Y, Bernard HU, Apt D (1997). "NFI-B3, a novel transcriptional repressor of the nuclear factor I family, is generated by alternative RNA processing". J. Biol. Chem. 272 (16): 10739–45. PMID 9099724.
- Geurts JM, Schoenmakers EF, Röijer E, et al. (1998). "Identification of NFIB as recurrent translocation partner gene of HMGIC in pleomorphic adenomas". Oncogene. 16 (7): 865–72. PMID 9484777.
- 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. PMID 12477932.
- Norquay LD, Yang X, Sheppard P, et al. (2003). "RFX1 and NF-1 associate with P sequences of the human growth hormone locus in pituitary chromatin". Mol. Endocrinol. 17 (6): 1027–38. PMID 12624117.
- Sheeter D, Du P, Rought S, et al. (2003). "Surface CD4 expression modulated by a cellular factor induced by HIV type 1 infection". AIDS Res. Hum. Retroviruses. 19 (2): 117–23. PMID 12639247.
- 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. PMID 14702039.
- 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. 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. S2CID 4427026.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. PMID 16344560.
- Mukhopadhyay SS, PMID 17511965.
External links
- NFIB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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