1. Gene
  2. HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 Gene

HERPUD1 - homocysteine inducible ER protein with ubiquitin like domain 1 Gene

Homo sapiens

Also known as SUP; HERP; Mif1

Gene ID: 9709 | Gene type: protein coding

About HERPUD1

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:56,932,142-56,944,864 (from NCBI)

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

HERPUD1 Protein Structure

ubiquitin

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

MMS-inducible

Related Diseases

Diseases Alias
Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome

Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer

Breast And/Or Ovarian Cancer

Breast And Ovarian Cancer Syndrome

Hboc Syndrome

Hereditary Breast And Ovarian Cancer

Brca1- Brca2-Associated Hboc

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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