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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18307982	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	22045699	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	28827405	GOA
involved in endoplasmic reticulum calcium ion homeostasis	IDA IDA: Inferred from direct assay	15102845	GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA IDA: Inferred from direct assay	15102845	GOA
involved in negative regulation of intrinsic apoptotic signaling pathway	IGI IGI: Inferred from genetic interaction	22045699	GOA
involved in positive regulation of ERAD pathway	IDA IDA: Inferred from direct assay	22045699	GOA
involved in positive regulation of ERAD pathway	IMP IMP: Inferred from mutant phenotype	18307982	GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	22045699	GOA
involved in response to unfolded protein	IEP IEP: Inferred from expression pattern	10708769	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA

Cellular Component GO Annotation	Evidence	Reference	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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HERPUD1 Protein Structure

ubiquitin

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06132	HERPUD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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