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    ERP29 endoplasmic reticulum protein 29 [ Homo sapiens (human) ]

    Gene ID: 10961, updated on 27-Dec-2024

    Summary

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    Official Symbol
    ERP29provided by HGNC
    Official Full Name
    endoplasmic reticulum protein 29provided by HGNC
    Primary source
    HGNC:HGNC:13799
    See related
    Ensembl:ENSG00000089248 MIM:602287; AllianceGenome:HGNC:13799
    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
    ERp28; ERp31; PDIA9; PDI-DB; C12orf8; HEL-S-107
    Summary
    This gene encodes a protein which localizes to the lumen of the endoplasmic reticulum (ER). It is a member of the protein disulfide isomerase (PDI) protein family but lacks an active thioredoxin motif, suggesting that this protein does not function as a disulfide isomerase. The canonical protein dimerizes and is thought to play a role in the processing of secretory proteins within the ER. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 73.5), prostate (RPKM 67.8) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See ERP29 in Genome Data Viewer
    Location:
    12q24.13
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112013426..112023449)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (111990331..112000354)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112451230..112461253)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 116 Neighboring gene solute carrier family 25 member 3 pseudogene 2 Neighboring gene immediate early response 3 interacting protein 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112448927-112449440 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112449945-112450833 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7043 Neighboring gene uncharacterized LOC124903021 Neighboring gene NANOG hESC enhancer GRCh37_chr12:112471007-112471508 Neighboring gene N-alpha-acetyltransferase 25, NatB auxiliary subunit Neighboring gene uncharacterized LOC124903022 Neighboring gene microRNA 3657

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Endoplasmic reticulum protein 29 regulates epithelial cell integrity during the mesenchymal-epithelial transition in breast cancer cells. Bambang IF, et al. Oncogene, 2013 Mar 7. PMID 22543584
    2. Endoplasmic reticulum protein 29 (ERp29): An emerging role in cancer. Zhang D, et al. Int J Biochem Cell Biol, 2011 Jan. PMID 20920593
    3. Overexpression of endoplasmic reticulum protein 29 regulates mesenchymal-epithelial transition and suppresses xenograft tumor growth of invasive breast cancer cells. Bambang IF, et al. Lab Invest, 2009 Nov. PMID 19770839
    4. Inhibiting ERp29 expression enhances radiosensitivity in human nasopharyngeal carcinoma cell lines. Qi L, et al. Med Oncol, 2012 Jun. PMID 21479953
    5. [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms]. Zhu B, et al. Zhonghua Nan Ke Xue, 2020 Jul. PMID 33377711

    See all (118) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ERp29 Attenuates Nicotine-Induced Endoplasmic Reticulum Stress and Inhibits Choroidal Neovascularization.
      Title: ERp29 Attenuates Nicotine-Induced Endoplasmic Reticulum Stress and Inhibits Choroidal Neovascularization.
    2. Euchromatic histone lysine methyltransferase 2 facilitates radioresistance in prostate cancer by repressing endoplasmic reticulum protein 29 transcription.
      Title: Euchromatic histone lysine methyltransferase 2 facilitates radioresistance in prostate cancer by repressing endoplasmic reticulum protein 29 transcription.
    3. ERp29 forms a feedback regulation loop with microRNA-135a-5p and promotes progression of colorectal cancer.
      Title: ERp29 forms a feedback regulation loop with microRNA-135a-5p and promotes progression of colorectal cancer.
    4. Dimerization of ER-resident molecular chaperones mediated by ERp29.
      Title: Dimerization of ER-resident molecular chaperones mediated by ERp29.
    5. [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms].
      Title: [Silencing ERp29 promotes the invasiveness of human PCa cells in vitro: Molecular mechanisms].
    6. Role of a genetic variation in the microRNA-4421 binding site of ERP29 regarding risk of oropharynx cancer and prognosis.
      Title: Role of a genetic variation in the microRNA-4421 binding site of ERP29 regarding risk of oropharynx cancer and prognosis.
    7. ERp29 affects the migratory and invasive ability of human extravillous trophoblast HTR-8/SVneo cells via modulating the epithelial-mesenchymal transition.
      Title: ERp29 affects the migratory and invasive ability of human extravillous trophoblast HTR-8/SVneo cells via modulating the epithelial-mesenchymal transition.
    8. ERp29 as a regulator of Insulin biosynthesis.
      Title: ERp29 as a regulator of Insulin biosynthesis.
    9. role of ERp29 in ICP
      Title: ERp29 inhibition attenuates TCA toxicity via affecting p38/p53- dependent pathway in human trophoblast HTR-8/SVeno cells.
    10. ERp29-MSec interaction appeared to require the presence of other bridging protein(s), perhaps triggered by post-translational modification of ERp29
      Title: The chaperone ERp29 is required for tunneling nanotube formation by stabilizing MSec.
    Submit: New GeneRIF Correction See all GeneRIFs (43)

    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with ERP29; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation 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

    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 IKR
    Inferred from Key Residues
    more info
    		 PubMed 
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein-folding chaperone binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of protein secretion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within positive regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein secretion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein unfolding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum lumen NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in melanosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane HDA PubMed 
    located_in smooth endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in transport vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    endoplasmic reticulum resident protein 29
    Names
    endoplasmic reticulum lumenal protein ERp28
    endoplasmic reticulum resident protein 28
    endoplasmic reticulum resident protein 31
    epididymis secretory protein Li 107
    protein disulfide isomerase family A, member 9

    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_001034025.2 → NP_001029197.1  endoplasmic reticulum resident protein 29 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA412124, AC073575
      Consensus CDS
      CCDS44977.1
      UniProtKB/Swiss-Prot
      P30040
      Related
      ENSP00000412083.1, ENST00000455836.1
      Conserved Domains (1) summary
      cl00388
      Location:33 → 50
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    2. NM_006817.4 → NP_006808.1  endoplasmic reticulum resident protein 29 isoform 1 precursor

      See identical proteins and their annotated locations for NP_006808.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC073575, BC101493
      Consensus CDS
      CCDS9158.1
      UniProtKB/Swiss-Prot
      C9J183, P30040, Q3MJC3, Q6FHT4
      UniProtKB/TrEMBL
      V9HW71
      Related
      ENSP00000261735.3, ENST00000261735.4
      Conserved Domains (2) summary
      cd03007
      Location:36 → 149
      PDI_a_ERp29_N; PDIa family, endoplasmic reticulum protein 29 (ERp29) subfamily; ERp29 is a ubiquitous ER-resident protein expressed in high levels in secretory cells. It forms homodimers and higher oligomers in vitro and in vivo. It contains a redox inactive TRX-like ...
      pfam07749
      Location:156 → 251
      ERp29; Endoplasmic reticulum protein ERp29, C-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      112013426..112023449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      111990331..112000354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P30040.4 GenPept UniProtKB/Swiss-Prot:P30040

    Gene LinkOut

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

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