Gene Gene information from NCBI Gene database.
Entrez ID 9709
Gene name Homocysteine inducible ER protein with ubiquitin like domain 1
Gene symbol HERPUD1
Synonyms (NCBI Gene)
HERPHERPUD1-IT1Mif1SUP
Chromosome 16
Chromosome location 16q13
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 involv
miRNA miRNA information provided by mirtarbase database.
254
miRTarBase ID miRNA Experiments Reference
MIRT002508 hsa-miR-373-3p Microarray 15685193
MIRT018664 hsa-miR-335-5p Microarray 18185580
MIRT019938 hsa-miR-375 Microarray 20215506
MIRT002508 hsa-miR-373-3p Microarray;Other 15685193
MIRT029926 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000836 Component Hrd1p ubiquitin ligase complex IDA 28827405
GO:0005515 Function Protein binding IPI 18307982, 28827405
GO:0005783 Component Endoplasmic reticulum IDA 15102845, 19788048, 22045699
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608070 13744 ENSG00000051108
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15011
Protein name Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein (Methyl methanesulfonate (MMF)-inducible fragment protein 1)
Protein 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 (PubMed:16289116, PubMed:28827405). Could e
PDB 1WGD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00240 ubiquitin 12 89 Ubiquitin family Domain
Tissue specificity 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
MESETEPEPVTLLVKSPNQRHRDLELSGDRGWSVGHLKAHLSRVYPERPRPEDQRLIYSG
KLLLDHQCLRDLLPKQEKRHVLHLVCNVK
SPSKMPEINAKVAESTEEPAGSNRGQYPEDS
SSDGLRQREVLRNLSSPGWENISRPEAAQQAFQGLGPGFSGYTPYGWLQLSWFQQIYARQ
YYMQYLAATAASGAFVPPPSAQEIPVVSAPAPAPIHNQFPAENQPANQNAAPQVVVNPGA
NQNLRMNAQGGPIVEEDDEINRDWLDWTYSAATFSVFLSILYFYSSLSRFLMVMGATVVM
YLHHVGWFPFRPRPVQNFPNDGPPPDVVNQDPNNNLQEGTDPETEDPNHLPPDRDVLDGE
QTSPSFMSTAWLVFKTFFASLLPEGPPAIAN
Sequence length 391
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   ATF4 activates genes in response to endoplasmic reticulum stress
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary breast ovarian cancer syndrome Pathogenic rs2144823719 RCV001374513
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37072786
alpha 1 Antitrypsin Deficiency Associate 28617828
Autoimmune Diseases Associate 29207374
Carcinogenesis Associate 21503571
Chemical and Drug Induced Liver Injury Associate 28617828
Cholestasis Associate 28617828
Drug Related Side Effects and Adverse Reactions Associate 16441512
Endometrial Neoplasms Associate 31718641
Glioma Associate 28430789
HELLP Syndrome Associate 28617828