RHBDF1

From Wikipedia, the free encyclopedia
Rhomboid 5 homolog 1 (Drosophila)
Identifiers
SymbolsRHBDF1; C16orf8; Dist1; EGFR-RS; gene-89; gene-90; hDist1
External IDsOMIM: 614403 MGI: 104328 HomoloGene: 32085 GeneCards: RHBDF1 Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez6428513650
EnsemblENSG00000007384ENSMUSG00000020282
UniProtQ96CC6Q6PIX5
RefSeq (mRNA)NM_022450NM_010117
RefSeq (protein)NP_071895NP_034247
Location (UCSC)Chr 16:
0.11 – 0.13 Mb
Chr 11:
32.21 – 32.22 Mb
PubMed search

Inactive rhomboid protein 1 (iRhom1) also known as rhomboid 5 homolog 1 or rhomboid family member 1 (RHBDF1) is a protein that in humans is encoded by the RHBDF1 gene.[1][2][3] The alternative name iRhom1 has been proposed, in order to clarify that it is a catalytically inactive member of the rhomboid family of intramembrane serine proteases.[4][5]

References

  1. Kielman MF, Smits R, Devi TS, Fodde R, Bernini LF (Aug 1993). "Homology of a 130-kb region enclosing the alpha-globin gene cluster, the alpha-locus controlling region, and two non-globin genes in human and mouse". Mamm Genome 4 (6): 314–323. doi:10.1007/BF00357090. PMID 8318735. 
  2. Nakagawa T, Guichard A, Castro CP, Xiao Y, Rizen M, Zhang HZ, Hu D, Bang A, Helms J, Bier E, Derynck R (Jul 2005). "Characterization of a human rhomboid homolog, p100hRho/RHBDF1, which interacts with TGF-alpha family ligands". Dev Dyn 233 (4): 1315–1331. doi:10.1002/dvdy.20450. PMID 15965977. 
  3. "Entrez Gene: RHBDF1 rhomboid 5 homolog 1 (Drosophila)". 
  4. Lemberg MK, Freeman M (November 2007). "Functional and evolutionary implications of enhanced genomic analysis of rhomboid intramembrane proteases". Genome Res. 17 (11): 1634–46. doi:10.1101/gr.6425307. PMC 2045146. PMID 17938163. 
  5. Zettl M, Adrain C, Strisovsky K, Lastun V, Freeman M (April 2011). "Rhomboid family pseudoproteases use the ER quality control machinery to regulate intercellular signaling". Cell 145 (1): 79–91. doi:10.1016/j.cell.2011.02.047. PMID 21439629. 

Further reading

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