ID:RHBL4_HUMAN DESCRIPTION: RecName: Full=Rhomboid-related protein 4; Short=RRP4; EC=3.4.21.105; AltName: Full=Rhomboid domain-containing protein 1; AltName: Full=Rhomboid-like protein 4; FUNCTION: 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. CATALYTIC ACTIVITY: Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains. ENZYME REGULATION: Inhibited by aprotinin. SUBUNIT: Interacts (via C-terminus domain) with VCP. Interacts with ubiquitin and ubiquitinated proteins (By similarity). Interacts with BIK and STEAP3. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Endoplasmic reticulum membrane; Multi-pass membrane protein. Mitochondrion (Potential). TISSUE SPECIFICITY: Expressed strongly in testis. INDUCTION: Up-regulated by endoplasmic reticulum stress agents that induce the unfolded protein response (UPR). MISCELLANEOUS: According to PubMed:22795130; it is not localized in the mitochondrion. SIMILARITY: Belongs to the peptidase S54 family.
Forced Expiratory Volume Jemma B Wilk et al. BMC medical genetics 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures., BMC medical genetics.
[PubMed 17903307]
GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA. These and other observed associations warrant replication studies. This resource of GWA results for pulmonary function measures is publicly available at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite.
pulmonary function traits (other) Wilk ,et al. 2007, Framingham Heart Study genome-wide association: results for pulmonary function measures, BMC medical genetics 2007 8 Suppl 1 : S8.
[PubMed 17903307]
GSTO2 and IL6R are credible candidate genes for association to pulmonary function identified by GWA.
Sleep Daniel J Gottlieb et al. BMC medical genetics 2007, Genome-wide association of sleep and circadian phenotypes., BMC medical genetics.
[PubMed 17903308]
This analysis confirms prior reports of significant heritability of sleepiness, usual bedtime, and usual sleep duration. Several genetic loci with suggestive linkage to these traits are identified, including linkage peaks containing circadian clock-related genes. Association tests identify NPSR1 and PDE4D as possible mediators of bedtime and sleepiness.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q8TEB9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006508 proteolysis GO:0006915 apoptotic process GO:0007283 spermatogenesis GO:0010954 positive regulation of protein processing GO:0030154 cell differentiation GO:0031293 membrane protein intracellular domain proteolysis GO:0033619 membrane protein proteolysis GO:0034620 cellular response to unfolded protein GO:0034644 cellular response to UV GO:0036503 ERAD pathway GO:0043066 negative regulation of apoptotic process GO:0043687 post-translational protein modification GO:0045732 positive regulation of protein catabolic process GO:0048515 spermatid differentiation GO:0051047 positive regulation of secretion GO:1904211 membrane protein proteolysis involved in retrograde protein transport, ER to cytosol GO:2000254 regulation of male germ cell proliferation
Cellular Component: GO:0005739 mitochondrion GO:0005783 endoplasmic reticulum GO:0005789 endoplasmic reticulum membrane GO:0016020 membrane GO:0016021 integral component of membrane GO:0030176 integral component of endoplasmic reticulum membrane GO:0044322 endoplasmic reticulum quality control compartment
Descriptions from all associated GenBank mRNAs
JF432471 - Synthetic construct Homo sapiens clone IMAGE:100073692 rhomboid domain containing 1 (RHBDD1) gene, encodes complete protein. BC030293 - Homo sapiens cDNA clone IMAGE:5399349, **** WARNING: chimeric clone ****. AX775823 - Sequence 93 from Patent WO03048202. BC111056 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone MGC:117258 IMAGE:5748421), complete cds. AK074258 - Homo sapiens cDNA FLJ23678 fis, clone HEP08720. AX775825 - Sequence 95 from Patent WO03048202. BC101262 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone MGC:120277 IMAGE:40023929), complete cds. BC101263 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone MGC:120278 IMAGE:40023930), complete cds. BC101264 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone MGC:120279 IMAGE:40023931), complete cds. BC101265 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone MGC:120280 IMAGE:40023933), complete cds. AL832364 - Homo sapiens mRNA; cDNA DKFZp451O246 (from clone DKFZp451O246). KJ894950 - Synthetic construct Homo sapiens clone ccsbBroadEn_04344 RHBDD1 gene, encodes complete protein. AY640233 - Homo sapiens HSD-50 mRNA, complete cds. AK026955 - Homo sapiens cDNA: FLJ23302 fis, clone HEP11143. BC015553 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone IMAGE:3848846). BC027900 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone IMAGE:5228783), complete cds. BC089404 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone IMAGE:3056017), partial cds. BC062636 - Homo sapiens rhomboid domain containing 1, mRNA (cDNA clone IMAGE:5493862), partial cds. KJ903402 - Synthetic construct Homo sapiens clone ccsbBroadEn_12796 RHBDD1 gene, encodes complete protein. AL512717 - Homo sapiens mRNA; cDNA DKFZp547E052 (from clone DKFZp547E052). DQ570409 - Homo sapiens piRNA piR-30521, complete sequence. AK128621 - Homo sapiens cDNA FLJ46780 fis, clone TRACH3027681. AK093986 - Homo sapiens cDNA FLJ36667 fis, clone UTERU2003577. AX748395 - Sequence 1920 from Patent EP1308459. JD130416 - Sequence 111440 from Patent EP1572962. JD455744 - Sequence 436768 from Patent EP1572962. JD357955 - Sequence 338979 from Patent EP1572962. JD210422 - Sequence 191446 from Patent EP1572962. JD498511 - Sequence 479535 from Patent EP1572962. BC071679 - Homo sapiens cDNA clone IMAGE:4387244, partial cds. JD477714 - Sequence 458738 from Patent EP1572962. JD373961 - Sequence 354985 from Patent EP1572962. JD198258 - Sequence 179282 from Patent EP1572962. JD280059 - Sequence 261083 from Patent EP1572962. JD083496 - Sequence 64520 from Patent EP1572962. JD447520 - Sequence 428544 from Patent EP1572962. JD113948 - Sequence 94972 from Patent EP1572962. JD383312 - Sequence 364336 from Patent EP1572962. JD371116 - Sequence 352140 from Patent EP1572962. JD546904 - Sequence 527928 from Patent EP1572962. JD502059 - Sequence 483083 from Patent EP1572962. JD038043 - Sequence 19067 from Patent EP1572962. JD082542 - Sequence 63566 from Patent EP1572962. JD250852 - Sequence 231876 from Patent EP1572962. JD085411 - Sequence 66435 from Patent EP1572962. JD303780 - Sequence 284804 from Patent EP1572962. JD195567 - Sequence 176591 from Patent EP1572962. JD244557 - Sequence 225581 from Patent EP1572962. JD495169 - Sequence 476193 from Patent EP1572962. JD113958 - Sequence 94982 from Patent EP1572962.
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