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LRIF1
Identifiers
Aliases	LRIF1, C1orf103, RIF1, ligand dependent nuclear receptor interacting factor 1, HBiX1, FSHD3
External IDs	OMIM: 615354; MGI: 2445214; GeneCards: LRIF1
Gene location (Human)
Chr.	Chromosome 1 (human)
End	110,963,965 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	106,643,893 bp
RNA expression pattern
	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
	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
Databases	NCBI: entry; OMA: entry
	55791
	321000
	ENSG00000121931
	ENSMUSG00000056260
	Q5T3J3
	Q8CDD9
	NM_001006945; NM_018372
	NM_001039478; NM_001039488; NM_001286685; NM_028081; NM_177309
	NP_001006946; NP_060842
	NP_001034567; NP_001034577; NP_001273614; NP_082357
	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 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.

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000121931 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[pmid12477932-5] 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.

[entrez-6] "Entrez Gene: C1orf103 chromosome 1 open reading frame 103".

[Hamanaka2020_FSHD-7] 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.

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References

Further reading