Human Gene HERPUD1 (uc002eke.2) Description and Page Index
Description: Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA. RefSeq Summary (NM_014685): The accumulation of unfolded proteins in the endoplasmic reticulum (ER) triggers the ER stress response. This response includes the inhibition of translation to prevent further accumulation of unfolded proteins, the increased expression of proteins involved in polypeptide folding, known as the unfolded protein response (UPR), and the destruction of misfolded proteins by the ER-associated protein degradation (ERAD) system. This gene may play a role in both UPR and ERAD. Its expression is induced by UPR and it has an ER stress response element in its promoter region while the encoded protein has an N-terminal ubiquitin-like domain which may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and to increase the level of amyloid-beta protein following its overexpression. Alternative splicing of this gene produces multiple transcript variants encoding different isoforms. The full-length nature of all transcript variants has not been determined. [provided by RefSeq, Jan 2013]. Transcript (Including UTRs) Position: hg19 chr16:56,966,002-56,977,793 Size: 11,792 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr16:56,966,157-56,977,202 Size: 11,046 Coding Exon Count: 8
ID:HERP1_HUMAN DESCRIPTION: RecName: Full=Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein; AltName: Full=Methyl methanesulfonate (MMF)-inducible fragment protein 1; FUNCTION: Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Could enhance presenilin-mediated beta-amyloid protein 40 generation. SUBUNIT: Interacts with PSEN1 and PSEN2. Interacts with SYVN1 and UBXN6. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Widely expressed; in the brain, expression seems to be restricted to neurons and vascular smooth muscle cells. Present in activated microglia in senile plaques in the brain of patients with Alzheimer disease. INDUCTION: Up-regulated by endoplasmic reticulum stress and CREB3. MISCELLANEOUS: Although the precise topology is not known, experimental data suggest that both the N- and C-termini face the cytosol. SIMILARITY: Contains 1 ubiquitin-like domain.
Genetic Association Studies of Complex Diseases and Disorders
1-Alkyl-2-acetylglycerophosphocholine Esterase Harald Grallert et al. European heart journal 2012, Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies., European heart journal.
[PubMed 22003152]
Levels of Lp-PLA2 mass and activity were associated with PLA2G7, the gene coding for this protein. Lipoprotein-associated phospholipase A2 activity was also strongly associated with genetic variants related to low-density lipoprotein cholesterol levels.
Cardiovascular Diseases Erin N Smith et al. PLoS genetics 2010, Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study., PLoS genetics.
[PubMed 20838585]
Cholesterol Tanya M Teslovich et al. Nature 2010, Biological, clinical and population relevance of 95 loci for blood lipids., Nature.
[PubMed 20686565]
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 Q15011
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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:0006511 ubiquitin-dependent protein catabolic process GO:0006874 cellular calcium ion homeostasis GO:0006986 response to unfolded protein GO:0030968 endoplasmic reticulum unfolded protein response GO:0030970 retrograde protein transport, ER to cytosol GO:0031396 regulation of protein ubiquitination GO:0032092 positive regulation of protein binding GO:0032469 endoplasmic reticulum calcium ion homeostasis GO:0034976 response to endoplasmic reticulum stress GO:0036499 PERK-mediated unfolded protein response GO:0043154 negative regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:1902235 regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1903069 regulation of ER-associated ubiquitin-dependent protein catabolic process GO:1903071 positive regulation of ER-associated ubiquitin-dependent protein catabolic process GO:2001243 negative regulation of intrinsic apoptotic signaling pathway
US Server
