Rhomboid-related protein 2

Rhomboid-related protein 2 is a protein that in humans is encoded by the RHBDL2 gene.[5]

RHBDL2
Identifiers
AliasesRHBDL2, RRP2, rhomboid like 2
External IDsOMIM: 608962 MGI: 3608413 HomoloGene: 49508 GeneCards: RHBDL2
Orthologs
SpeciesHumanMouse
Entrez

54933

230726

Ensembl

ENSG00000158315

ENSMUSG00000043333

UniProt

Q9NX52

A2AGA4

RefSeq (mRNA)

NM_017821
NM_001304746

NM_183163
NM_001356445

RefSeq (protein)

NP_001291675
NP_060291

NP_898986
NP_001343374

Location (UCSC)Chr 1: 38.89 – 38.94 MbChr 4: 123.68 – 123.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The protein encoded by this gene is a member of the rhomboid protease family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid-1. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases.

RHBDL2 functions as a sheddase and is localized to the plasma membrane.[6] Known substrates of RHBDL2 include thrombomodulin and epidermal growth factor;[6] profiling of the substrate repertoire of RHBDL2 has identified a number of additional type I membrane proteins substrates, including BCAM, SPINT1, and CLCP1.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000158315 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000043333 - 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. "Entrez Gene: Rhomboid, veinlet-like 2 (Drosophila)".
  6. Lichtenthaler SF, Lemberg MK, Fluhrer R (August 2018). "Proteolytic ectodomain shedding of membrane proteins in mammals-hardware, concepts, and recent developments". The EMBO Journal. 37 (15). doi:10.15252/embj.201899456. PMC 6068445. PMID 29976761.
  7. Johnson N, Březinová J, Stephens E, Burbridge E, Freeman M, Adrain C, Strisovsky K (August 2017). "Quantitative proteomics screen identifies a substrate repertoire of rhomboid protease RHBDL2 in human cells and implicates it in epithelial homeostasis". Scientific Reports. 7 (1): 7283. Bibcode:2017NatSR...7.7283J. doi:10.1038/s41598-017-07556-3. PMC 5544772. PMID 28779096.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.