RHBDF1

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]

RHBDF1
Identifiers
AliasesRHBDF1, C16orf8, Dist1, EGFR-RS, gene-89, gene-90, hDist1, rhomboid 5 homolog 1
External IDsOMIM: 614403 MGI: 104328 HomoloGene: 32085 GeneCards: RHBDF1
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16p13.3Start58,059 bp[1]
End76,355 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 11: 32.21 – 32.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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


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