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

    Gene ID: 10961, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001034025.2NP_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:3350
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_006817.4NP_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:36149
      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:156251
      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)