RHBDF1

RHBDF1
Identifiers
Aliases	RHBDF1 , C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1, rhomboid 5 homolog 1
External IDs	OMIM: 614403; MGI: 104328; HomoloGene: 32085; GeneCards: RHBDF1; OMA:RHBDF1 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16p13.3 Start 58,059 bp [1] End 76,355 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 A4|11 18.83 cM Start 32,159,585 bp [2] End 32,172,300 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve tibial arteries ascending aorta right coronary artery left coronary artery Descending thoracic aorta canal of the cervix right lung gastric mucosa sural nerve Top expressed in interventricular septum external carotid artery internal carotid artery primary oocyte ankle lip esophagus medullary collecting duct carotid body skin of external ear More reference expression data BioGPS More reference expression data
Gene ontology Molecular function serine-type endopeptidase activity growth factor binding protein binding Cellular component integral component of membrane Golgi membrane Golgi apparatus endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein transport regulation of proteasomal protein catabolic process protein processing regulation of epidermal growth factor receptor signaling pathway cell population proliferation cell migration negative regulation of protein secretion proteolysis regulation of protein secretion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 64285 13650 Ensembl ENSG00000007384 ENSMUSG00000020282 UniProt Q96CC6 Q6PIX5 RefSeq (mRNA) NM_022450 NM_001291818 NM_010117 RefSeq (protein) NP_071895 NP_001278747 NP_034247 Location (UCSC) Chr 16: 0.06 – 0.08 Mb Chr 11: 32.16 – 32.17 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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. ^{[5] [6] [7]} 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. ^{[8] [9]}

References

1. GRCh38: Ensembl release 89: ENSG00000007384 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020282 – 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. 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. S2CID   24711956.
6. 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. S2CID   7770266.
7. "Entrez Gene: RHBDF1 rhomboid 5 homolog 1 (Drosophila)".
8. 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.
9. 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. Bibcode:2002PNAS...9916899M. 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. S2CID   20630444.
• 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.