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    ERP44 endoplasmic reticulum protein 44 [ Homo sapiens (human) ]

    Gene ID: 23071, updated on 9-Dec-2024

    Summary

    Official Symbol
    ERP44provided by HGNC
    Official Full Name
    endoplasmic reticulum protein 44provided by HGNC
    Primary source
    HGNC:HGNC:18311
    See related
    Ensembl:ENSG00000023318 MIM:609170; AllianceGenome:HGNC:18311
    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
    PDIA10; TXNDC4
    Summary
    This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in thyroid (RPKM 19.6), placenta (RPKM 16.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERP44 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (99979185..100099000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112150810..112270620, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (102741467..102861282, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28716 Neighboring gene STX17 divergent transcript Neighboring gene NANOG hESC enhancer GRCh37_chr9:102678782-102679392 Neighboring gene syntaxin 17 Neighboring gene uncharacterized LOC105376176 Neighboring gene UPF3A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28721 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20132 Neighboring gene RNA, 7SL, cytoplasmic 75, pseudogene Neighboring gene inversin Neighboring gene ribosomal protein S2 pseudogene 35

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with endoplasmic reticulum protein 44 (ERP44) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0573

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein disulfide isomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein disulfide isomerase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell redox homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in glycoprotein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to unfolded protein IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    endoplasmic reticulum resident protein 44
    Names
    ER protein 44
    endoplasmic reticulum resident protein 44 kDa
    epididymis secretory sperm binding protein
    protein disulfide isomerase family A, member 10
    thioredoxin domain containing 4 (endoplasmic reticulum)
    thioredoxin domain-containing protein 4

    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_015051.3NP_055866.1  endoplasmic reticulum resident protein 44 precursor

      See identical proteins and their annotated locations for NP_055866.1

      Status: VALIDATED

      Source sequence(s)
      AB011145, AL358937, BQ881761
      Consensus CDS
      CCDS35082.1
      UniProtKB/Swiss-Prot
      O60319, Q4VXC1, Q5VWZ7, Q6UW14, Q8WX67, Q9BS26
      UniProtKB/TrEMBL
      A0A384MEE7, A0A8I5KW59
      Related
      ENSP00000262455.6, ENST00000262455.7
      Conserved Domains (3) summary
      cd02996
      Location:29136
      PDI_a_ERp44; PDIa family, endoplasmic reticulum protein 44 (ERp44) subfamily; ERp44 is an ER-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain, similar to that of PDIa, with a CXFS motif followed by ...
      cd03070
      Location:144234
      PDI_b_ERp44; PDIb family, ERp44 subfamily, first redox inactive TRX-like domain b; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif followed ...
      cd03072
      Location:245355
      PDI_b'_ERp44; PDIb' family, ERp44 subfamily, second redox inactive TRX-like domain b'; ERp44 is an endoplasmic reticulum (ER)-resident protein, induced during stress, involved in thiol-mediated ER retention. It contains an N-terminal TRX domain with a CXFS motif ...

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      99979185..100099000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      112150810..112270620 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)