Human Gene TXNDC5 (ENST00000379757.9) from GENCODE V44
  Description: Homo sapiens thioredoxin domain containing 5 (TXNDC5), transcript variant 1, mRNA. (from RefSeq NM_030810)
RefSeq Summary (NM_030810): 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].
Gencode Transcript: ENST00000379757.9
Gencode Gene: ENSG00000239264.9
Transcript (Including UTRs)
   Position: hg38 chr6:7,881,517-7,910,788 Size: 29,272 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr6:7,883,144-7,910,776 Size: 27,633 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:7,881,517-7,910,788)mRNA (may differ from genome)Protein (432 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TXND5_HUMAN
DESCRIPTION: RecName: Full=Thioredoxin domain-containing protein 5; AltName: Full=Endoplasmic reticulum resident protein 46; Short=ER protein 46; Short=ERp46; AltName: Full=Thioredoxin-like protein p46; Flags: Precursor;
FUNCTION: Possesses thioredoxin activity. Has been shown to reduce insulin disulfide bonds. Also complements protein disulfide- isomerase deficiency in yeast (By similarity).
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen (By similarity).
SIMILARITY: Belongs to the protein disulfide isomerase family.
SIMILARITY: Contains 3 thioredoxin domains.
SEQUENCE CAUTION: Sequence=AAH01199.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.04 RPKM in Cells - Cultured fibroblasts
Total median expression: 273.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -482.001627-0.296 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005788 - Disulphide_isomerase
IPR005746 - Thioredoxin
IPR012336 - Thioredoxin-like_fold
IPR017937 - Thioredoxin_CS
IPR013766 - Thioredoxin_domain

Pfam Domains:
PF00085 - Thioredoxin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2DIZ - NMR MuPIT 3UVT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8NBS9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003756 protein disulfide isomerase activity
GO:0005515 protein binding
GO:0016853 isomerase activity

Biological Process:
GO:0006457 protein folding
GO:0034976 response to endoplasmic reticulum stress
GO:0043066 negative regulation of apoptotic process
GO:0043277 apoptotic cell clearance
GO:0043312 neutrophil degranulation
GO:0045454 cell redox homeostasis

Cellular Component:
GO:0005576 extracellular region
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0035578 azurophil granule lumen
GO:0043202 lysosomal lumen
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC052310 - Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum), mRNA (cDNA clone MGC:59718 IMAGE:6671945), complete cds.
KJ901131 - Synthetic construct Homo sapiens clone ccsbBroadEn_10525 TXNDC5 gene, encodes complete protein.
CU690906 - Synthetic construct Homo sapiens gateway clone IMAGE:100022387 5' read TXNDC5 mRNA.
AY326464 - Homo sapiens putative protein STRF8 (STRF8) mRNA, complete cds.
LF209758 - JP 2014500723-A/17261: Polycomb-Associated Non-Coding RNAs.
MA445335 - JP 2018138019-A/17261: Polycomb-Associated Non-Coding RNAs.
BC003529 - Homo sapiens cDNA clone IMAGE:3608717, partial cds.
AK025006 - Homo sapiens cDNA: FLJ21353 fis, clone COL02771.
BC001199 - Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum), mRNA (cDNA clone MGC:3178 IMAGE:3356029), complete cds.
GQ891501 - Homo sapiens clone HEL-S-222 epididymis secretory sperm binding protein mRNA, complete cds.
AL833008 - Homo sapiens mRNA; cDNA DKFZp666I134 (from clone DKFZp666I134).
AY358646 - Homo sapiens clone DNA46776 disulfide isomerase (UNQ364) mRNA, complete cds.
AL834423 - Homo sapiens mRNA; cDNA DKFZp667E126 (from clone DKFZp667E126).
AK075291 - Homo sapiens cDNA FLJ90810 fis, clone Y79AA1000876, weakly similar to PROTEIN DISULFIDE ISOMERASE-RELATED PROTEIN PRECURSOR.
AK098089 - Homo sapiens cDNA FLJ40770 fis, clone TRACH2004183, weakly similar to Aedes triseriatus disulfide-isomerase mRNA.
LF331477 - JP 2014500723-A/138980: Polycomb-Associated Non-Coding RNAs.
MA567054 - JP 2018138019-A/138980: Polycomb-Associated Non-Coding RNAs.
JD080597 - Sequence 61621 from Patent EP1572962.
JD036796 - Sequence 17820 from Patent EP1572962.
JD454773 - Sequence 435797 from Patent EP1572962.
LF331478 - JP 2014500723-A/138981: Polycomb-Associated Non-Coding RNAs.
MA567055 - JP 2018138019-A/138981: Polycomb-Associated Non-Coding RNAs.
JD439076 - Sequence 420100 from Patent EP1572962.
JD039696 - Sequence 20720 from Patent EP1572962.
JD498579 - Sequence 479603 from Patent EP1572962.
JD037899 - Sequence 18923 from Patent EP1572962.
LF331479 - JP 2014500723-A/138982: Polycomb-Associated Non-Coding RNAs.
MA567056 - JP 2018138019-A/138982: Polycomb-Associated Non-Coding RNAs.
JD488336 - Sequence 469360 from Patent EP1572962.
JD268376 - Sequence 249400 from Patent EP1572962.
JD181580 - Sequence 162604 from Patent EP1572962.
JD544754 - Sequence 525778 from Patent EP1572962.
JD297580 - Sequence 278604 from Patent EP1572962.
JD251310 - Sequence 232334 from Patent EP1572962.
JD225568 - Sequence 206592 from Patent EP1572962.
JD289866 - Sequence 270890 from Patent EP1572962.
JD061334 - Sequence 42358 from Patent EP1572962.
LF331480 - JP 2014500723-A/138983: Polycomb-Associated Non-Coding RNAs.
MA567057 - JP 2018138019-A/138983: Polycomb-Associated Non-Coding RNAs.
DQ580398 - Homo sapiens piRNA piR-48510, complete sequence.
DQ580397 - Homo sapiens piRNA piR-48509, complete sequence.
JD140866 - Sequence 121890 from Patent EP1572962.
JD394425 - Sequence 375449 from Patent EP1572962.
JD503188 - Sequence 484212 from Patent EP1572962.
JD150973 - Sequence 131997 from Patent EP1572962.
DQ578913 - Homo sapiens piRNA piR-47025, complete sequence.
LF331481 - JP 2014500723-A/138984: Polycomb-Associated Non-Coding RNAs.
MA567058 - JP 2018138019-A/138984: Polycomb-Associated Non-Coding RNAs.
AK315598 - Homo sapiens cDNA, FLJ96678, Homo sapiens thioredoxin domain containing 5 (TXNDC5), mRNA.
AJ440721 - Homo sapiens mRNA for thioredoxin related protein.
LF331482 - JP 2014500723-A/138985: Polycomb-Associated Non-Coding RNAs.
MA567059 - JP 2018138019-A/138985: Polycomb-Associated Non-Coding RNAs.
LF331483 - JP 2014500723-A/138986: Polycomb-Associated Non-Coding RNAs.
MA567060 - JP 2018138019-A/138986: Polycomb-Associated Non-Coding RNAs.
LF331485 - JP 2014500723-A/138988: Polycomb-Associated Non-Coding RNAs.
MA567062 - JP 2018138019-A/138988: Polycomb-Associated Non-Coding RNAs.
LF331487 - JP 2014500723-A/138990: Polycomb-Associated Non-Coding RNAs.
MA567064 - JP 2018138019-A/138990: Polycomb-Associated Non-Coding RNAs.
LF331488 - JP 2014500723-A/138991: Polycomb-Associated Non-Coding RNAs.
MA567065 - JP 2018138019-A/138991: Polycomb-Associated Non-Coding RNAs.
LF331490 - JP 2014500723-A/138993: Polycomb-Associated Non-Coding RNAs.
MA567067 - JP 2018138019-A/138993: Polycomb-Associated Non-Coding RNAs.
LF331493 - JP 2014500723-A/138996: Polycomb-Associated Non-Coding RNAs.
MA567070 - JP 2018138019-A/138996: Polycomb-Associated Non-Coding RNAs.
AK129666 - Homo sapiens cDNA FLJ26155 fis, clone ADG01203.
LF331498 - JP 2014500723-A/139001: Polycomb-Associated Non-Coding RNAs.
MA567075 - JP 2018138019-A/139001: Polycomb-Associated Non-Coding RNAs.
LF331502 - JP 2014500723-A/139005: Polycomb-Associated Non-Coding RNAs.
MA567079 - JP 2018138019-A/139005: Polycomb-Associated Non-Coding RNAs.
JD094256 - Sequence 75280 from Patent EP1572962.
JD393566 - Sequence 374590 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NBS9 (Reactome details) participates in the following event(s):

R-HSA-429815 Formation Of Bloc-1 Complex
R-HSA-432688 trans-Golgi Network Derived Lysosomal Vesicle Uncoating
R-HSA-432712 Vamp And trans-Golgi Network AP-1 Binding Coupled With Cargo Capture On Lysosome Vesicle Destined Golgi Membrane
R-HSA-6798751 Exocytosis of azurophil granule lumen proteins
R-HSA-432707 trans-Golgi Network Lysosomal Vesicle Scission
R-HSA-432706 trans-Golgi Network Lysosome Vesicle Destined Membrane Coat Assembly
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-6798695 Neutrophil degranulation
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-168249 Innate Immune System
R-HSA-199991 Membrane Trafficking
R-HSA-168256 Immune System
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000379757.1, ENST00000379757.2, ENST00000379757.3, ENST00000379757.4, ENST00000379757.5, ENST00000379757.6, ENST00000379757.7, ENST00000379757.8, NM_030810, Q5TCQ0, Q8NBS9, Q8ND33, Q8TCT2, Q9BVH9, TLP46, TXND5_HUMAN, uc003mxv.1, uc003mxv.2, uc003mxv.3, uc003mxv.4, uc003mxv.5, UNQ364/PRO700
UCSC ID: ENST00000379757.9
RefSeq Accession: NM_030810
Protein: Q8NBS9 (aka TXND5_HUMAN or TXN5_HUMAN)
CCDS: CCDS4505.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.