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    HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 [ Homo sapiens (human) ]

    Gene ID: 9709, updated on 8-Apr-2018
    Official Symbol
    HERPUD1provided by HGNC
    Official Full Name
    homocysteine inducible ER protein with ubiquitin like domain 1provided by HGNC
    Primary source
    HGNC:HGNC:13744
    See related
    Ensembl:ENSG00000051108 MIM:608070; Vega:OTTHUMG00000133276
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SUP; HERP; Mif1
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 145.7), prostate (RPKM 120.9) and 25 other tissues See more
    Orthologs
    Location:
    16q13
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (56932090..56943881)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (56965974..56977793)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 12 member 3 Neighboring gene ribosomal protein S24 pseudogene 17 Neighboring gene microRNA 6863 Neighboring gene cholesteryl ester transfer protein Neighboring gene NLR family CARD domain containing 5 Neighboring gene cilia and flagella associated protein 69 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of the metabolic syndrome in Indian Asian men.
    NHGRI GWA Catalog
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    NHGRI GWA Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    NHGRI GWA Catalog
    Polymorphism in the CETP gene region, HDL cholesterol, and risk of future myocardial infarction: Genomewide analysis among 18 245 initially healthy women from the Women's Genome Health Study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0025

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ion channel binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    Lewy body core IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with calcium channel complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    membrane HDA PubMed 
    Preferred Names
    homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein
    Names
    MMS-inducible
    homocysteine-inducible endoplasmic reticulum stress-inducible ubiquitin-like domain member 1 protein
    homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1
    methyl methanesulfonate (MMF)-inducible fragment protein 1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001010989.2NP_001010989.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 2

      See identical proteins and their annotated locations for NP_001010989.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC012181, AF055003, DA581153
      Consensus CDS
      CCDS45492.1
      UniProtKB/Swiss-Prot
      Q15011
      Related
      ENSP00000300302.5, OTTHUMP00000254434, ENST00000300302.9, OTTHUMT00000432314
      Conserved Domains (1) summary
      cd01790
      Location:986
      Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
    2. NM_001272103.1NP_001259032.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 4

      See identical proteins and their annotated locations for NP_001259032.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region compared to variant 1, that causes a frameshift. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC012181, AF055001, DA581153, DQ837586
      UniProtKB/Swiss-Prot
      Q15011
      UniProtKB/TrEMBL
      A4UAE9
      Conserved Domains (1) summary
      cd01790
      Location:987
      Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
    3. NM_014685.3NP_055500.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein isoform 1

      See identical proteins and their annotated locations for NP_055500.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AB034989, AC012181, AK223233, DA581153
      Consensus CDS
      CCDS10771.1
      UniProtKB/Swiss-Prot
      Q15011
      UniProtKB/TrEMBL
      Q53FP9
      Related
      ENSP00000409555.2, OTTHUMP00000164377, ENST00000439977.6, OTTHUMT00000257056
      Conserved Domains (1) summary
      cd01790
      Location:987
      Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

      Range
      56932090..56943881
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001010990.1: Suppressed sequence

      Description
      NM_001010990.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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