RHBDF1

Rhomboid 5 homolog 1 (Drosophila)
Identifiers
Symbols	RHBDF1 ; C16orf8; Dist1; EGFR-RS; gene-89; gene-90; hDist1
External IDs	OMIM: 614403 MGI: 104328 HomoloGene: 32085 GeneCards: RHBDF1 Gene
Gene ontology Molecular function • serine-type endopeptidase activity • growth factor binding Cellular component • Golgi membrane • endoplasmic reticulum membrane • integral component of membrane Biological process • cell proliferation • protein transport • cell migration • protein processing • regulation of epidermal growth factor receptor signaling pathway • regulation of protein secretion • negative regulation of protein secretion • regulation of proteasomal protein catabolic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	64285	13650
Ensembl	ENSG00000007384	ENSMUSG00000020282
UniProt	Q96CC6	Q6PIX5
RefSeq (mRNA)	NM_022450	NM_001291818
RefSeq (protein)	NP_071895	NP_001278747
Location (UCSC)	Chr 16: 0.06 – 0.08 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. PMC 3149277. PMID 21439629.

Further reading

• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Daniels RJ, Peden JF, Lloyd C, et al. (2001). "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16". Hum. Mol. Genet. 10 (4): 339–352. doi:10.1093/hmg/10.4.339. PMID 11157797.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Flint J, Thomas K, Micklem G, et al. (1997). "The relationship between chromosome structure and function at a human telomeric region". Nat. Genet. 15 (3): 252–257. doi:10.1038/ng0397-252. PMID 9054936.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.