Ligand-dependent nuclear receptor-interacting factor 1

LRIF1
Identifiers
Aliases	LRIF1 , C1orf103, RIF1, ligand dependent nuclear receptor interacting factor 1, HBiX1, FSHD3
External IDs	OMIM: 615354; MGI: 2445214; HomoloGene: 10160; GeneCards: LRIF1; OMA:LRIF1 - orthologs
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 106,592,303 bp [2] End 106,643,893 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon gonad testicle Epithelium of choroid plexus sperm right testis Skeletal muscle tissue of rectus abdominis left testis muscle of thigh corpus epididymis Top expressed in spermatid genital tubercle spermatocyte olfactory epithelium granulocyte seminiferous tubule pineal gland tail of embryo superior cervical ganglion spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding retinoic acid receptor binding Cellular component nuclear matrix nucleus 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: 106.59 – 106.64 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. 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. 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.