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

Gene ID: 81567, updated on 4-Oct-2020

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
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (7881517..7910788, 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 Sharpr-MPRA regulatory region 4297 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 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 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 PubChem

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
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein disulfide isomerase activity IEA
Inferred from Electronic Annotation
more info
 
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_001145549.4NP_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, ENST00000473453.2
    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_030810.5NP_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, BQ181185
    Consensus CDS
    CCDS4505.1
    UniProtKB/Swiss-Prot
    Q8NBS9
    Related
    ENSP00000369081.4, ENST00000379757.9
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    7881517..7910788 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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