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Ligand-dependent nuclear receptor-interacting factor 1

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(Redirected from C1orf103)
LRIF1
Identifiers
AliasesLRIF1, C1orf103, RIF1, ligand dependent nuclear receptor interacting factor 1, HBiX1, FSHD3
External IDsOMIM: 615354; MGI: 2445214; HomoloGene: 10160; GeneCards: LRIF1; OMA:LRIF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 3: 106.59 – 106.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000121931Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000056260Ensembl, 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. ^ 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.

Further reading

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