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    TXNDC5 thioredoxin domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 81567, updated on 4-Nov-2018

    Summary

    Official Symbol
    TXNDC5provided by HGNC
    Official Full Name
    thioredoxin domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:21073
    See related
    Ensembl:ENSG00000239264 MIM:616412; Vega:OTTHUMG00000014216
    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
    HCC2; ERP46; HCC-2; STRF8; PDIA15; UNQ364; ENDOPDI
    Summary
    This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
    Expression
    Ubiquitous expression in urinary bladder (RPKM 151.7), colon (RPKM 127.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See TXNDC5 in Genome Data Viewer
    Location:
    6p24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (7881514..7910814, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (7881483..7911047, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374906 Neighboring gene uncharacterized LOC105374907 Neighboring gene bone morphogenetic protein 6 Neighboring gene BLOC1S5-TXNDC5 readthrough (NMD candidate) Neighboring gene EEF1E1-BLOC1S5 readthrough (NMD candidate) Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 pseudogene 1 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 5

    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 Jun 15 11:32:44 2016

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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 thioredoxin domain containing 5 (TXNDC5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with TXNDC5; predicted interaction to be within the endoplasmic reticulum and function as a thioredoxin reductase PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with thioredoxin domain containing 5 (TXNDC5) 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

    Pathways from BioSystems

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Readthrough BLOC1S5-TXNDC5

    Readthrough gene: BLOC1S5-TXNDC5, Included gene: BLOC1S5

    Homology

    Clone Names

    • MGC3178, FLJ21789

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    isomerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic cell clearance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    azurophil granule lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    thioredoxin domain-containing protein 5
    Names
    ER protein 46
    endoplasmic reticulum protein ERp46
    endoplasmic reticulum resident protein 46
    endothelial protein disulphide isomerase
    epididymis secretory sperm binding protein
    protein disulfide isomerase family A, member 15
    thioredoxin domain containing 5 (endoplasmic reticulum)
    thioredoxin related protein
    thioredoxin-like protein p46

    NCBI Reference Sequences (RefSeq)

    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_001145549.3NP_001139021.1  thioredoxin domain-containing protein 5 isoform 3

      See identical proteins and their annotated locations for NP_001139021.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon, compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AK315598, AY358646, BQ181185
      Consensus CDS
      CCDS47369.1
      UniProtKB/Swiss-Prot
      Q8NBS9
      UniProtKB/TrEMBL
      A0A024QZV0
      Related
      ENSP00000420784.1, OTTHUMP00000212222, ENST00000473453.2, OTTHUMT00000348957
      Conserved Domains (2) summary
      cd03005
      Location:82182
      PDI_a_ERp46; PDIa family, endoplasmic reticulum protein 46 (ERp46) subfamily; ERp46 is an ER-resident protein containing three redox active TRX domains. Yeast complementation studies show that ERp46 can substitute for protein disulfide isomerase (PDI) function in ...
      cl00388
      Location:256
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
    2. NM_030810.4NP_110437.2  thioredoxin domain-containing protein 5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_110437.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AY358646, BF726049, BQ181185
      Consensus CDS
      CCDS4505.1
      UniProtKB/Swiss-Prot
      Q8NBS9
      Related
      ENSP00000369081.4, OTTHUMP00000016005, ENST00000379757.8, OTTHUMT00000039792
      Conserved Domains (2) summary
      cd03005
      Location:190290
      PDI_a_ERp46; PDIa family, endoplasmic reticulum protein 46 (ERp46) subfamily; ERp46 is an ER-resident protein containing three redox active TRX domains. Yeast complementation studies show that ERp46 can substitute for protein disulfide isomerase (PDI) function in ...
      TIGR01130
      Location:66432
      ER_PDI_fam; protein disulfide isomerase, eukaryotic

    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_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      7881514..7910814 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_022085.3: Suppressed sequence

      Description
      NM_022085.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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