• Gene id: 9709

Gene Summary

• Gene Symbol: HERPUD1   Gene   UCSC   Ensembl
• Aliases: HERP, Mif1, SUP
• Gene name: homocysteine inducible ER protein with ubiquitin like domain 1
• Alternate names: homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein, MMS-inducible, homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein, homocysteine-inducible, endoplasmic reticulum ,
• Gene location: 16q13 (56932141: 56944863)     Exons: 8     NC_000016.10
• Gene summary(Entrez): 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 involv
• OMIM: 608070

Protein Summary

• Protein general information: Q15011  
  • Name: Homocysteine responsive endoplasmic reticulum resident ubiquitin like domain member 1 protein (Methyl methanesulfonate (MMF) inducible fragment protein 1)
  • Length: 391  
  • Mass: 43720
  • 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.
• Sequence:

  MESETEPEPVTLLVKSPNQRHRDLELSGDRGWSVGHLKAHLSRVYPERPRPEDQRLIYSGKLLLDHQCLRDLLPK
  QEKRHVLHLVCNVKSPSKMPEINAKVAESTEEPAGSNRGQYPEDSSSDGLRQREVLRNLSSPGWENISRPEAAQQ
  AFQGLGPGFSGYTPYGWLQLSWFQQIYARQYYMQYLAATAASGAFVPPPSAQEIPVVSAPAPAPIHNQFPAENQP
  ANQNAAPQVVVNPGANQNLRMNAQGGPIVEEDDEINRDWLDWTYSAATFSVFLSILYFYSSLSRFLMVMGATVVM
  YLHHVGWFPFRPRPVQNFPNDGPPPDVVNQDPNNNLQEGTDPETEDPNHLPPDRDVLDGEQTSPSFMSTAWLVFK
  TFFASLLPEGPPAIAN

• Structural information:
  • Protein Domains: (10..7-)
    (/note="Ubiquitin-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00214"-)
  • Interpro: IPR039751  IPR000626  IPR029071  
  • Prosite: PS50053
  • PDB: 1WGD
  • PDBsum: 1WGD
  • DIP: 46662
  • STRING: ENSP00000409555
• Other Databases: GeneCards:  HERPUD1  Malacards:  HERPUD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903071	positive regulation of ER-associated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0044325	ion channel binding	IPI	molecular function
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	biological process
GO:1990037	Lewy body core	IDA	cellular component
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IGI	biological process
GO:0034976	response to endoplasmic reticulum stress	TAS	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IDA	biological process
GO:0030970	retrograde protein transport, ER to cytosol	IMP	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IBA	biological process
GO:0044325	ion channel binding	IBA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IBA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:1903069	regulation of ER-associated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IBA	biological process
GO:1903071	positive regulation of ER-associated ubiquitin-dependent protein catabolic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0030433	ubiquitin-dependent ERAD pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006986	response to unfolded protein	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0036499	PERK-mediated unfolded protein response	TAS	biological process
GO:1903069	regulation of ER-associated ubiquitin-dependent protein catabolic process	IEA	biological process
GO:1902235	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0034976	response to endoplasmic reticulum stress	IEA	biological process
GO:0032469	endoplasmic reticulum calcium ion homeostasis	IEA	biological process
GO:1990756	ubiquitin ligase-substrate adaptor activity	IEA	molecular function
GO:0031396	regulation of protein ubiquitination	IEA	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:2001243	negative regulation of intrinsic apoptotic signaling pathway	IEA	biological process
GO:1902236	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0030968	endoplasmic reticulum unfolded protein response	IEA	biological process
GO:0006874	cellular calcium ion homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0006986	response to unfolded protein	IEP	biological process
GO:0016020	membrane	HDA	cellular component
GO:0006986	response to unfolded protein	IEP	biological process
GO:0003674	molecular_function	ND	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray