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Ligand-ovisni jedarni receptorsko-interaktivni faktor 1 (LRIF1), poznat i kao receptorsko-interaktivni faktor 1 (RIF1) jest protein koji je kod ljudi kodiran genom LRIF1 sa hromosoma 1 .[5] [6]
Dužina polipeptidnog lanca je 769 aminokiselina , a molekulska težina 84.568 Da .[7]
10 20 30 40 50 MSNNLRRVFL KPAEENSGNA SRCVSGCMYQ VVQTIGSDGK NLLQLLPIPK SSGNLIPLVQ SSVMSDALKG NTGKPVQVTF QTQISSSSTS ASVQLPIFQP ASSSNYFLTR TVDTSEKGRV TSVGTGNFSS SVSKVQSHGV KIDGLTMQTF AVPPSTQKDS SFIVVNTQSL PVTVKSPVLP SGHHLQIPAH AEVKSVPASS LPPSVQQKIL ATATTSTSGM VEASQMPTVI YVSPVNTVKN VVTKNFQNIY PKPVTEIAKP VILNTTQIPK NVATETQLKG GQHSQAAPVK WIFQDNLQPF TPSLVPVKSS NNVASKILKT FVDRKNLGDN TINMPPLSTI DPSGTRSKNM PIKDNALVMF NGKVYLLAKK GTDVLPSQID QQNSVSPDTP VRKDTLQTVS SSPVTEISRE VVNIVLAKSK SSQMETKSLS NTQLASMANL RAEKNKVEKP SPSTTNPHMN QSSNYLKQSK TLFTNPIFPV GFSTGHNAPR KVTAVIYARK GSVLQSIEKI SSSVDATTVT SQQCVFRDQE PKIHNEMAST SDKGAQGRND KKDSQGRSNK ALHLKSDAEF KKIFGLTKDL RVCLTRIPDH LTSGEGFDSF SSLVKSGTYK ETEFMVKEGE RKQQNFDKKR KAKTNKKMDH IKKRKTENAY NAIINGEANV TGSQLLSSIL PTSDVSQHNI LTSHSKTRQE KRTEMEYYTH EKQEKGTLNS NAAYEQSHFF NKNYTEDIFP VTPPELEETI RDEKIRRLKQ VLREKEAALE EMRKKMHQK
Pokazalo se da LRIF1 stupa u interakciju sa proteinom SMCHD1 , čija mutacija uzrokuje facioskapulohumerusnu mišićnu distrofiju tip 2 (FSHD2).[8] LRIF1 također je umiješana u funkciju FSHD2.[8]
^ a b c GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl , maj 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056260 - Ensembl , maj 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. (decembar 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" .^ "UniProt, Q5T3J3" (jezik: engleski). Pristupljeno 22. 11. 2021 .^ a b Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, et al. (maj 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. (septembar 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. (septembar 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. (oktobar 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 . 
