Ligand-dependent nuclear receptor-interacting factor 1

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
Identifiers
Aliases	LRIF1, C1orf103, RIF1, ligand dependent nuclear receptor interacting factor 1, HBiX1
External IDs	OMIM: 615354 MGI: 2445214 HomoloGene: 10160 GeneCards: LRIF1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p13.3 Start 110,947,190 bp[1] End 110,963,965 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3|3 F2.3 Start 106,684,987 bp[2] End 106,736,577 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • retinoic acid receptor binding Cellular component • nuclear matrix • cell nucleus • nuclear chromosome, telomeric region • microtubule organizing center • Barr body • chromosome Biological process • regulation of transcription, DNA-templated • transcription, DNA-templated • dosage compensation by inactivation of X chromosome Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55791	321000
Ensembl	ENSG00000121931	ENSMUSG00000056260
UniProt	Q5T3J3	Q8CDD9
RefSeq (mRNA)	NM_001006945 NM_018372	NM_001039478 NM_001039488 NM_001286685 NM_028081 NM_177309
RefSeq (protein)	NP_001006946 NP_060842	NP_001034567 NP_001034577 NP_001273614 NP_082357
Location (UCSC)	Chr 1: 110.95 – 110.96 Mb	Chr 3: 106.68 – 106.74 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000121931 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056260 - 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. 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.
6. "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".
7. Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, et al. (May 2020). "LRIF1 associated with facioscapulohumeral muscular dystrophy". Neurology: 10.1212/WNL.0000000000009617. doi:10.1212/WNL.0000000000009617. 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.
• 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.