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    ERP27 endoplasmic reticulum protein 27 [ Homo sapiens (human) ]

    Gene ID: 121506, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ERP27provided by HGNC
    Official Full Name
    endoplasmic reticulum protein 27provided by HGNC
    Primary source
    HGNC:HGNC:26495
    See related
    Ensembl:ENSG00000139055 MIM:610642; AllianceGenome:HGNC:26495
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PDIA8; C12orf46
    Summary
    This gene encodes a noncatalytic member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. The canonical protein has an N-terminal signal sequence, two thioredoxin (TRX)-like domains and a C-terminal ER-retention sequence. Alternative splicing results in multiple transcript variants encoding distinct isoforms; some of which lack domains present in the canonical protein. [provided by RefSeq, Dec 2016]
    Expression
    Biased expression in pancreas (RPKM 211.6) and urinary bladder (RPKM 10.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See ERP27 in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (14914039..14938537, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (14791381..14815874, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15066973..15091471, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15033676-15034875 Neighboring gene matrix Gla protein Neighboring gene uncharacterized LOC124902885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6059 Neighboring gene Rho GDP dissociation inhibitor beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6060 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:15103381-15104580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6065 Neighboring gene phosphodiesterase 6H

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. High-resolution NMR studies of structure and dynamics of human ERp27 indicate extensive interdomain flexibility. Amin NT, et al. Biochem J, 2013 Mar 1. PMID 23234573, Free PMC Article
    2. The crystal structure of the protein-disulfide isomerase family member ERp27 provides insights into its substrate binding capabilities. Kober FX, et al. J Biol Chem, 2013 Jan 18. PMID 23192347, Free PMC Article
    3. ERp27, a new non-catalytic endoplasmic reticulum-located human protein disulfide isomerase family member, interacts with ERp57. Alanen HI, et al. J Biol Chem, 2006 Nov 3. PMID 16940051
    4. The varicellovirus UL49.5 protein blocks the transporter associated with antigen processing (TAP) by inhibiting essential conformational transitions in the 6+6 transmembrane TAP core complex. Verweij MC, et al. J Immunol, 2008 Oct 1. PMID 18802093
    5. The human protein disulfide isomerase gene family. Galligan JJ, et al. Hum Genomics, 2012 Jul 5. PMID 23245351, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. High-resolution NMR studies of structure and dynamics of human ERp27 indicate extensive interdomain flexibility
      Title: High-resolution NMR studies of structure and dynamics of human ERp27 indicate extensive interdomain flexibility.
    2. ERp27 is able to distinguish between folded and unfolded substrates, only interacting with the latter and presenting them to for catalysis.
      Title: The crystal structure of the protein-disulfide isomerase family member ERp27 provides insights into its substrate binding capabilities.
    3. ERp27 is bound by ERp57 both in vitro and in vivo by a similar mechanism by which ERp57 binds calreticulin
      Title: ERp27, a new non-catalytic endoplasmic reticulum-located human protein disulfide isomerase family member, interacts with ERp57.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of endoplasmic reticulum protein 27 (ERP27) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32115

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables protein disulfide isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to endoplasmic reticulum stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum resident protein 27
    Names
    ER protein 27
    endoplasmic reticulum protein 27 kDa
    inactive protein disulfide-isomerase 27
    protein disulfide isomerase family A, member 8

    NCBI Reference Sequences (RefSeq)

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    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_001300784.2 → NP_001287713.1  endoplasmic reticulum resident protein 27 isoform 2

      See identical proteins and their annotated locations for NP_001287713.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter, and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at an alternate start codon and result in an isoform (2) that has a distinct N-terminus, and is shorter, compared to isoform 1.
      Source sequence(s)
      AA772096, AC007655, AY358536, BQ574479, CN296050
      Consensus CDS
      CCDS73450.1
      UniProtKB/TrEMBL
      F5GYS6
      Related
      ENSP00000440573.1, ENST00000540097.1
      Conserved Domains (2) summary
      cd02982
      Location:50 → 152
      PDI_b'_family; Protein Disulfide Isomerase (PDIb') family, redox inactive TRX-like domain b'; composed of eukaryotic proteins involved in oxidative protein folding in the endoplasmic reticulum (ER) by acting as catalysts and folding assistants. Members of this family ...
      pfam13848
      Location:24 → 149
      Thioredoxin_6; Thioredoxin-like domain

    2. NM_152321.4 → NP_689534.1  endoplasmic reticulum resident protein 27 isoform 1 precursor

      See identical proteins and their annotated locations for NP_689534.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA772096, AK056677, AY358536, BQ574479
      Consensus CDS
      CCDS8670.1
      UniProtKB/Swiss-Prot
      Q96DN0
      Related
      ENSP00000266397.2, ENST00000266397.7
      Conserved Domains (1) summary
      pfam13848
      Location:64 → 250
      Thioredoxin_6; Thioredoxin-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      14914039..14938537 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      14791381..14815874 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DN0.1 GenPept UniProtKB/Swiss-Prot:Q96DN0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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