From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
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] LRIF1 itself has also been implicated in FSHD2.[ 7]
^ a b c GRCh38: Ensembl release 89: ENSG00000121931 – Ensembl , May 2017^ a b c 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" .^ a b 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 .
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 .
