RHBDD1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0006915Biological processapoptotic process
GO_2000254Biological processregulation of male germ cell proliferation
GO_0034620Biological processcellular response to unfolded protein
GO_0031293Biological processmembrane protein intracellular domain proteolysis
GO_0043066Biological processnegative regulation of apoptotic process
GO_1904211Biological processmembrane protein proteolysis involved in retrograde protein transport, ER to cytosol
GO_0048515Biological processspermatid differentiation
GO_0043687Biological processpost-translational protein modification
GO_0034644Biological processcellular response to UV
GO_0036503Biological processERAD pathway
GO_0010954Biological processpositive regulation of protein processing
GO_0031966Cellular componentmitochondrial membrane
GO_0005783Cellular componentendoplasmic reticulum
GO_0005789Cellular componentendoplasmic reticulum membrane
GO_0044322Cellular componentendoplasmic reticulum quality control compartment
GO_0005515Molecular functionprotein binding
GO_0004252Molecular functionserine-type endopeptidase activity

IV. Literature review

[source]
Gene nameRHBDD1
Protein nameRhomboid-related protein 4 (RRP4) (EC 3.4.21.105) (Rhomboid domain-containing protein 1) (Rhomboid-like protein 4)
Rhomboid domain containing 1
SynonymsHSD50
HSD-50
RHBDL4
DescriptionFUNCTION: Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded membrane proteins. Required for the degradation process of some specific misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRAC processing. Involved in the regulation of exosomal secretion; inhibits the TSAP6-mediated secretion pathway. Involved in the regulation of apoptosis; modulates BIK-mediated apoptotic activity. Also plays a role in the regulation of spermatogenesis; inhibits apoptotic activity in spermatogonia. .

AccessionsB9A054
ENST00000409053.1
ENST00000424132.1
C9JQK8
C9K011
ENST00000341329.7 [Q8TEB9-1]
C9J1R4
ENST00000392062.7 [Q8TEB9-1]
ENST00000448992.5
Q8TEB9
ENST00000436481.1
ENST00000437454.5
C9J4C7
ENST00000423616.1
C9JAS2