| LRIF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | LRIF1, C1orf103, RIF1, ligand dependent nuclear receptor interacting factor 1, HBiX1, FSHD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 615354 MGI: 2445214 HomoloGene: 10160 GeneCards: LRIF1 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Ligand-dependent nuclear receptor-interacting factor 1 (LRIF1) also known as receptor-interacting factor 1 (RIF1) is a protein that in humans is encoded by the LRIF1 gene.[5][6]
LRIF1 has been shown to interact with SMCHD1 protein, mutation of which causes facioscapulohumeral muscular dystrophy type 2 (FSHD2).[7] Mutation of LRIF1 itself has also been implicated in FSHD2.[7]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000056260 - 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.
- ↑ Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- ↑ "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".
- 1 2 Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, et al. (May 2020). "LRIF1 associated with facioscapulohumeral muscular dystrophy". Neurology. 94 (23): e2441–e2447. doi:10.1212/WNL.0000000000009617. PMC 7455367. PMID 32467133.
Further reading
- Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, et al. (September 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
- Stelzl U, Worm U, Lalowski M, Haenig C, Brembeck FH, Goehler H, et al. (September 2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070. S2CID 8235923.
- Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 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.
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