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
Gene location (Human)
Chr.	Chromosome 16 (human)[1]
End	76,355 bp[1]
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)[2]
End	32,172,300 bp[2]
RNA expression pattern
	Top expressed in
	tibial nerve; ; ascending aorta; ; right coronary artery; ; left coronary artery; ; canal of the cervix; ; right lung; ; gastric mucosa; ; sural nerve; ; stromal cell of endometrium; ; upper lobe of left lung;
	Top expressed in
	interventricular septum; ; external carotid artery; ; internal carotid artery; ; ankle; ; lip; ; esophagus; ; medullary collecting duct; ; carotid body; ; trachea; ; calvaria;
	More reference expression data
	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
	64285
	13650
	ENSG00000007384
	ENSMUSG00000020282
	Q96CC6
	Q6PIX5
	NM_022450
	NM_001291818; NM_010117
	NP_071895
	NP_001278747; NP_034247
	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

GRCh38: Ensembl release 89: ENSG00000007384 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000020282 - 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.
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.
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.
"Entrez Gene: RHBDF1 rhomboid 5 homolog 1 (Drosophila)".
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.
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.

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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000007384 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8318735-5] 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.

[pmid15965977-6] 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.

[entrez-7] "Entrez Gene: RHBDF1 rhomboid 5 homolog 1 (Drosophila)".

[pmid17938163-8] 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.

[pmid21439629-9] 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.

RHBDF1

References

Further reading