HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 Gene
Also Known as SUP; HERP; Mif1
Species: Homo sapiens
About HERPUD1
This gene has 19 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 51 phenotypes. Ubiquitous expression in thyroid (RPKM 145.7), prostate (RPKM 120.9) and 25 other tissues.
Summary
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]
HERPUD1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001010989.3 | NP_001010989.1 | homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 2 |
| NM_001272103.2 | NP_001259032.1 | homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 4 |
| NM_014685.4 | NP_055500.1 | homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18307982 | GOA |
| enables transmembrane transporter binding |
IPI
IPI: Inferred from physical interaction
|
22045699 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Lewy body core |
IDA
IDA: Inferred from direct assay
|
19788048 | GOA |
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
15102845 | GOA |
| located in endoplasmic reticulum membrane |
IDA
IDA: Inferred from direct assay
|
10922362 | GOA |
HERPUD1 Protein Structure
ubiquitin: Ubiquitin family (18 - 87)
- 0
- 100
- 200
- 300
- 391 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hereditary Breast Ovarian Cancer Syndrome |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | HERPUD1 | VGNC | VGNC:41663 |
| Felis catus | HERPUD1 | VGNC | VGNC:62801 |
| Rattus norvegicus | HERPUD1 | RGD | RGD:620818 |
| Mus musculus | HERPUD1 | MGD | MGI:1927406 |
| Macaca mulatta | HERPUD1 | VGNC | VGNC:73163 |
| Bos taurus | HERPUD1 | VGNC | VGNC:29816 |
| Others | HERPUD1 | NCBI |