Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Miscellaneous

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• ion channel binding Source: ParkinsonsUK-UCL <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant alpha-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins."
    Belal C., Ameli N.J., El Kommos A., Bezalel S., Al'Khafaji A.M., Mughal M.R., Mattson M.P., Kyriazis G.A., Tyrberg B., Chan S.L.
    Hum. Mol. Genet. 21:963-977(2012) [PubMed] [Europe PMC] [Abstract]
• protein binding, bridging involved in substrate recognition for ubiquitination Source: Ensembl

GO - Biological processⁱ

• endoplasmic reticulum calcium ion homeostasis Source: ParkinsonsUK-UCL <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Herp stabilizes neuronal Ca2+ homeostasis and mitochondrial function during endoplasmic reticulum stress."
    Chan S.L., Fu W., Zhang P., Cheng A., Lee J., Kokame K., Mattson M.P.
    J. Biol. Chem. 279:28733-28743(2004) [PubMed] [Europe PMC] [Abstract]
  • "The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant alpha-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins."
    Belal C., Ameli N.J., El Kommos A., Bezalel S., Al'Khafaji A.M., Mughal M.R., Mattson M.P., Kyriazis G.A., Tyrberg B., Chan S.L.
    Hum. Mol. Genet. 21:963-977(2012) [PubMed] [Europe PMC] [Abstract]
• endoplasmic reticulum unfolded protein response Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: Ensembl
• negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway Source: ParkinsonsUK-UCLInferred from direct assayⁱ
  • "Herp stabilizes neuronal Ca2+ homeostasis and mitochondrial function during endoplasmic reticulum stress."
    Chan S.L., Fu W., Zhang P., Cheng A., Lee J., Kokame K., Mattson M.P.
    J. Biol. Chem. 279:28733-28743(2004) [PubMed] [Europe PMC] [Abstract]
• negative regulation of intrinsic apoptotic signaling pathway Source: ParkinsonsUK-UCL <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant alpha-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins."
    Belal C., Ameli N.J., El Kommos A., Bezalel S., Al'Khafaji A.M., Mughal M.R., Mattson M.P., Kyriazis G.A., Tyrberg B., Chan S.L.
    Hum. Mol. Genet. 21:963-977(2012) [PubMed] [Europe PMC] [Abstract]
• PERK-mediated unfolded protein response Source: Reactome
• positive regulation of ER-associated ubiquitin-dependent protein catabolic process Source: ParkinsonsUK-UCLInferred from direct assayⁱ
  • "The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant alpha-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins."
    Belal C., Ameli N.J., El Kommos A., Bezalel S., Al'Khafaji A.M., Mughal M.R., Mattson M.P., Kyriazis G.A., Tyrberg B., Chan S.L.
    Hum. Mol. Genet. 21:963-977(2012) [PubMed] [Europe PMC] [Abstract]
• regulation of ER-associated ubiquitin-dependent protein catabolic process Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• regulation of protein ubiquitination Source: Ensembl
• response to endoplasmic reticulum stress Source: ParkinsonsUK-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • "Homocysteine-induced endoplasmic reticulum protein (herp) is up-regulated in parkinsonian substantia nigra and present in the core of Lewy bodies."
    Slodzinski H., Moran L.B., Michael G.J., Wang B., Novoselov S., Cheetham M.E., Pearce R.K., Graeber M.B.
    Clin. Neuropathol. 28:333-343(2009) [PubMed] [Europe PMC] [Abstract]
• response to unfolded protein Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • Ref.9

    "The novel MMS-inducible gene Mif1/KIAA0025 is a target of the unfolded protein response pathway."
    van Laar T., Schouten T., Hoogervorst E., van Eck M., van der Eb A.J., Terleth C.
    FEBS Lett. 469:123-131(2000) [PubMed] [Europe PMC] [Abstract]

    Cited for: CHARACTERIZATION.
  • Ref.1

    "Herp, a new ubiquitin-like membrane protein induced by endoplasmic reticulum stress."
    Kokame K., Agarwala K.L., Kato H., Miyata T.
    J. Biol. Chem. 275:32846-32853(2000) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY.
• retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Identification of ERAD components essential for dislocation of the null Hong Kong variant of alpha-1-antitrypsin (NHK)."
    Zhong Y., Shen H., Wang Y., Yang Y., Yang P., Fang S.
    Biochem. Biophys. Res. Commun. 458:424-428(2015) [PubMed] [Europe PMC] [Abstract]
• ubiquitin-dependent protein catabolic process Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Topology

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

Organism-specific databases

Miscellaneous databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• ion channel binding Source: ParkinsonsUK-UCLInferred from physical interactionⁱ
  • "The homocysteine-inducible endoplasmic reticulum (ER) stress protein Herp counteracts mutant alpha-synuclein-induced ER stress via the homeostatic regulation of ER-resident calcium release channel proteins."
    Belal C., Ameli N.J., El Kommos A., Bezalel S., Al'Khafaji A.M., Mughal M.R., Mattson M.P., Kyriazis G.A., Tyrberg B., Chan S.L.
    Hum. Mol. Genet. 21:963-977(2012) [PubMed] [Europe PMC] [Abstract]
• protein binding, bridging involved in substrate recognition for ubiquitination Source: Ensembl

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Region

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MESETEPEPV TLLVKSPNQR HRDLELSGDR GWSVGHLKAH LSRVYPERPR 
        60         70         80         90        100
PEDQRLIYSG KLLLDHQCLR DLLPKQEKRH VLHLVCNVKS PSKMPEINAK 
       110        120        130        140        150
VAESTEEPAG SNRGQYPEDS SSDGLRQREV LRNLSSPGWE NISRPEAAQQ 
       160        170        180        190        200
AFQGLGPGFS GYTPYGWLQL SWFQQIYARQ YYMQYLAATA ASGAFVPPPS 
       210        220        230        240        250
AQEIPVVSAP APAPIHNQFP AENQPANQNA APQVVVNPGA NQNLRMNAQG 
       260        270        280        290        300
GPIVEEDDEI NRDWLDWTYS AATFSVFLSI LYFYSSLSRF LMVMGATVVM 
       310        320        330        340        350
YLHHVGWFPF RPRPVQNFPN DGPPPDVVNQ DPNNNLQEGT DPETEDPNHL 
       360        370        380        390 
PPDRDVLDGE QTSPSFMSTA WLVFKTFFAS LLPEGPPAIA N          

        10         20         30         40         50
MESETEPEPV TLLVKSPNQR HRDLELSGDR GWSVGHLKAH LSRVYPERPR 
        60         70         80         90        100
PEDQRLIYSG KLLLDHQCLR DLLPKEKRHV LHLVCNVKSP SKMPEINAKV 
       110        120        130        140        150
AESTEEPAGS NRGQYPEDSS SDGLRQREVL RNLSSPGWEN ISRPEAAQQA 
       160        170        180        190        200
FQGLGPGFSG YTPYGWLQLS WFQQIYARQY YMQYLAATAA SGAFVPPPSA 
       210        220        230        240        250
QEIPVVSAPA PAPIHNQFPA ENQPANQNAA PQVVVNPGAN QNLRMNAQGG 
       260        270        280        290        300
PIVEEDDEIN RDWLDWTYSA ATFSVFLSIL YFYSSLSRFL MVMGATVVMY 
       310        320        330        340        350
LHHVGWFPFR PRPVQNFPND GPPPDVVNQD PNNNLQEGTD PETEDPNHLP 
       360        370        380        390
PDRDVLDGEQ TSPSFMSTAW LVFKTFFASL LPEGPPAIAN            

        10         20         30         40         50
MESETEPEPV TLLVKSPNQR HRDLELSGDR GWSVGHLKAH LSRVYPERPR 
        60         70         80         90        100
PEDQRLIYSG KLLLDHQCLR DLLPKEKRHV LHLVCNVKSP SKMPEINAKV 
       110        120        130        140        150
AESTEEPAGS NRGQYPEDSS SDGLRQREVL RNLSSPGWEN ISRHHVGWFP 
       160        170        180        190        200
FRPRPVQNFP NDGPPPDVVN QDPNNNLQEG TDPETEDPNH LPPDRDVLDG 
       210        220        230 
EQTSPSFMST AWLVFKTFFA SLLPEGPPAI AN                    

        10         20         30         40         50
MESETEPEPV TLLVKSPNQR HRDLELSGDR GWSVGHLKAH LSRVYPERPR 
        60         70         80         90        100
PEDQRLIYSG KLLLDHQCLR DLLPKVAEST EEPAGSNRGQ YPEDSSSDGL 
       110        120        130        140        150
RQREVLRNLS SPGWENISRP EAAQQAFQGL GPGFSGYTPY GWLQLSWFQQ 
       160        170        180        190        200
IYARQYYMQY LAATAASGAF VPPPSAQEIP VVSAPAPAPI HNQFPAENQP 
       210        220        230        240        250
ANQNAAPQVV VNPGANQNLR MNAQGGPIVE EDDEINRDWL DWTYSAATFS 
       260        270        280        290        300
VFLSILYFYS SLSRFLMVMG ATVVMYLHHV GWFPFRPRPV QNFPNDGPPP 
       310        320        330        340        350
DVVNQDPNNN LQEGTDPETE DPNHLPPDRD VLDGEQTSPS FMSTAWLVFK 
       360 
TFFASLLPEG PPAIAN                                      

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityⁱ

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human entries with polymorphisms or disease mutations
   List of human entries with polymorphisms or disease mutations
2. Human polymorphisms and disease mutations
   Index of human polymorphisms and disease mutations
3. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
4. Human chromosome 16
   Human chromosome 16: entries, gene names and cross-references to MIM
5. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references