HERPUD1

Protein identityUniProt · HPA

UniProt accession

Q15011

Gene

HERPUD1

Ensembl

ENSG00000051108

Chromosome

16

Canonical length

391 aa

Protein class

Cancer-related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

391 residues, UniProt reviewed canonical sequence.

>Q15011|HERPUD1
     1  MESETEPEPV TLLVKSPNQR HRDLELSGDR GWSVGHLKAH LSRVYPERPR PEDQRLIYSG
    61  KLLLDHQCLR DLLPKQEKRH VLHLVCNVKS PSKMPEINAK VAESTEEPAG SNRGQYPEDS
   121  SSDGLRQREV LRNLSSPGWE NISRPEAAQQ AFQGLGPGFS GYTPYGWLQL SWFQQIYARQ
   181  YYMQYLAATA ASGAFVPPPS AQEIPVVSAP APAPIHNQFP AENQPANQNA APQVVVNPGA
   241  NQNLRMNAQG GPIVEEDDEI NRDWLDWTYS AATFSVFLSI LYFYSSLSRF LMVMGATVVM
   301  YLHHVGWFPF RPRPVQNFPN DGPPPDVVNQ DPNNNLQEGT DPETEDPNHL PPDRDVLDGE
   361  QTSPSFMSTA WLVFKTFFAS LLPEGPPAIA N

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HERPUD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.58

Highest tissue expression

355 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HERPUD1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 67 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary breast ovarian cancer syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.23

gnomAD pLI

1

gnomAD missense Z

0.8

DepMap mean gene effect

-0.11

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• endoplasmic reticulum calcium ion homeostasis
• endoplasmic reticulum unfolded protein response
• ERAD pathway
• negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
• negative regulation of intrinsic apoptotic signaling pathway
• positive regulation of ERAD pathway
• positive regulation of ubiquitin-dependent protein catabolic process
• protein targeting to ER
• regulation of ERAD pathway
• regulation of protein ubiquitination
• response to endoplasmic reticulum stress
• response to unfolded protein
• retrograde protein transport, ER to cytosol
• ubiquitin-dependent protein catabolic process

Molecular functions

• transmembrane transporter binding
• ubiquitin-like ligase-substrate adaptor activity

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum membrane
• endoplasmic reticulum quality control compartment
• Hrd1p ubiquitin ligase complex
• Lewy body core
• membrane

Protein domainsUniProt · Pfam · InterPro

• Ubiquitin-like domain
• Ubiquitin-like domain superfamily
• Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 /2
• Ubiquitin family

KeywordsUniProt

• Acetylation
• Endoplasmic reticulum
• Membrane
• Phosphoprotein
• Transmembrane
• Transmembrane helix
• Unfolded protein response

InteractionsUniProt · HPA

Protein binding partners of HERPUD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PSEN1
• PSEN2
• UBQLN1
• UBQLN2
• UBQLN4
• UBXN6