Human Gene TXNDC12 (uc001cti.4)
  Description: Homo sapiens thioredoxin domain containing 12 (endoplasmic reticulum) (TXNDC12), transcript variant 1, mRNA.
RefSeq Summary (NM_015913): This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012].
Transcript (Including UTRs)
   Position: hg19 chr1:52,485,804-52,521,843 Size: 36,040 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr1:52,486,605-52,520,768 Size: 34,164 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:52,485,804-52,521,843)mRNA (may differ from genome)Protein (172 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TXD12_HUMAN
DESCRIPTION: RecName: Full=Thioredoxin domain-containing protein 12; EC=1.8.4.2; AltName: Full=Endoplasmic reticulum resident protein 18; Short=ER protein 18; Short=ERp18; AltName: Full=Endoplasmic reticulum resident protein 19; Short=ER protein 19; Short=ERp19; AltName: Full=Thioredoxin-like protein p19; AltName: Full=hTLP19; Flags: Precursor;
FUNCTION: Possesses significant protein thiol-disulfide oxidase activity.
CATALYTIC ACTIVITY: 2 glutathione + protein-disulfide = glutathione disulfide + protein-dithiol.
BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=25 uM for Asn-Arg-Cys-Ser-Gln-Gly-Ser-Cys-Trp-Asn; pH dependence: Optimum pH is 6.5;
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
TISSUE SPECIFICITY: Widely expressed.
SIMILARITY: Contains 1 thioredoxin domain.

-  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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.19 RPKM in Cells - Cultured fibroblasts
Total median expression: 973.29 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -398.501075-0.371 Picture PostScript Text
3' UTR -200.30801-0.250 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
IPR012336 - Thioredoxin-like_fold
IPR017937 - Thioredoxin_CS

Pfam Domains:
PF00085 - Thioredoxin
PF13899 - Thioredoxin-like

SCOP Domains:
52833 - Thioredoxin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1SEN - X-ray MuPIT 2K8V - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O95881
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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
No orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0015037 peptide disulfide oxidoreductase activity
GO:0016491 oxidoreductase activity
GO:0019153 protein-disulfide reductase (glutathione) activity

Biological Process:
GO:0030154 cell differentiation
GO:0045454 cell redox homeostasis
GO:0055114 oxidation-reduction process
GO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen


-  Descriptions from all associated GenBank mRNAs
  LF206548 - JP 2014500723-A/14051: Polycomb-Associated Non-Coding RNAs.
BC008953 - Homo sapiens thioredoxin domain containing 12 (endoplasmic reticulum), mRNA (cDNA clone MGC:3735 IMAGE:2959502), complete cds.
BC001493 - Homo sapiens thioredoxin domain containing 12 (endoplasmic reticulum), mRNA (cDNA clone MGC:1825 IMAGE:3506109), complete cds.
AF131758 - Homo sapiens clone 24952 mRNA sequence, complete cds.
AF543416 - Homo sapiens thioredoxin-like protein p19 (TLP19) mRNA, complete cds.
AK075409 - Homo sapiens cDNA PSEC0100 fis, clone NT2RP2002927, highly similar to Thioredoxin domain-containing protein 12 precursor (EC 1.8.4.2).
AK056169 - Homo sapiens cDNA FLJ31607 fis, clone NT2RI2002819, weakly similar to PUTATIVE SECRETED PROTEIN XAG PRECURSOR.
BC008913 - Homo sapiens thioredoxin domain containing 12 (endoplasmic reticulum), mRNA (cDNA clone MGC:15395 IMAGE:3659407), complete cds.
JD540093 - Sequence 521117 from Patent EP1572962.
LF356117 - JP 2014500723-A/163620: Polycomb-Associated Non-Coding RNAs.
LF356116 - JP 2014500723-A/163619: Polycomb-Associated Non-Coding RNAs.
AY358982 - Homo sapiens clone DNA67300 ETRP713 (UNQ713) mRNA, complete cds.
JD503174 - Sequence 484198 from Patent EP1572962.
JD524550 - Sequence 505574 from Patent EP1572962.
JD316285 - Sequence 297309 from Patent EP1572962.
JD130242 - Sequence 111266 from Patent EP1572962.
JD073388 - Sequence 54412 from Patent EP1572962.
JD469454 - Sequence 450478 from Patent EP1572962.
LF356115 - JP 2014500723-A/163618: Polycomb-Associated Non-Coding RNAs.
JD248368 - Sequence 229392 from Patent EP1572962.
HQ448666 - Synthetic construct Homo sapiens clone IMAGE:100072107; CCSB003545_01 thioredoxin domain containing 12 (endoplasmic reticulum) (TXNDC12) gene, encodes complete protein.
KJ893793 - Synthetic construct Homo sapiens clone ccsbBroadEn_03187 TXNDC12 gene, encodes complete protein.
KJ898811 - Synthetic construct Homo sapiens clone ccsbBroadEn_08205 TXNDC12 gene, encodes complete protein.
CU674738 - Synthetic construct Homo sapiens gateway clone IMAGE:100017963 5' read TXNDC12 mRNA.
AK094262 - Homo sapiens cDNA FLJ36943 fis, clone BRACE2005562.
LF356112 - JP 2014500723-A/163615: Polycomb-Associated Non-Coding RNAs.
LF356107 - JP 2014500723-A/163610: Polycomb-Associated Non-Coding RNAs.
LF356104 - JP 2014500723-A/163607: Polycomb-Associated Non-Coding RNAs.
JD424199 - Sequence 405223 from Patent EP1572962.
JD036968 - Sequence 17992 from Patent EP1572962.
JD534656 - Sequence 515680 from Patent EP1572962.
JD417270 - Sequence 398294 from Patent EP1572962.
JD539630 - Sequence 520654 from Patent EP1572962.
LF383514 - JP 2014500723-A/191017: Polycomb-Associated Non-Coding RNAs.
MA619091 - JP 2018138019-A/191017: Polycomb-Associated Non-Coding RNAs.
MA442125 - JP 2018138019-A/14051: Polycomb-Associated Non-Coding RNAs.
MA591694 - JP 2018138019-A/163620: Polycomb-Associated Non-Coding RNAs.
MA591693 - JP 2018138019-A/163619: Polycomb-Associated Non-Coding RNAs.
MA591692 - JP 2018138019-A/163618: Polycomb-Associated Non-Coding RNAs.
MA591689 - JP 2018138019-A/163615: Polycomb-Associated Non-Coding RNAs.
MA591684 - JP 2018138019-A/163610: Polycomb-Associated Non-Coding RNAs.
MA591681 - JP 2018138019-A/163607: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00480 - Glutathione metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQS0, NM_015913, NP_056997, O95881, Q5T1T4, Q96H50, TLP19, TXD12_HUMAN, uc001cti.3, UNQ713/PRO1376
UCSC ID: uc001cti.4
RefSeq Accession: NM_015913
Protein: O95881 (aka TXD12_HUMAN)
CCDS: CCDS561.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_015913.3
exon count: 7CDS single in 3' UTR: no RNA size: 2412
ORF size: 519CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1040.00frame shift in genome: no % Coverage: 99.30
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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