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Aliases for TMX1 Gene

Aliases for TMX1 Gene

  • Thioredoxin Related Transmembrane Protein 1 2 3 5
  • Protein Disulfide Isomerase Family A, Member 11 2 3
  • Thioredoxin-Related Transmembrane Protein 1 2 3
  • Thioredoxin Domain-Containing Protein 1 3 4
  • Transmembrane Trx-Related Protein 3 4
  • Thioredoxin Domain Containing 1 2 3
  • TXNDC1 3 4
  • TXNDC 3 4
  • TMX 3 4
  • Thioredoxin-Related Transmembrane Protein 2
  • Thioredoxin Domain-Containing 2
  • Thioredoxin Domain Containing 2
  • PDIA11 3

External Ids for TMX1 Gene

Previous HGNC Symbols for TMX1 Gene

  • TXNDC1

Previous GeneCards Identifiers for TMX1 Gene

  • GC14P050779
  • GC14P051706
  • GC14P031866

Summaries for TMX1 Gene

Entrez Gene Summary for TMX1 Gene

  • 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 ER-signal sequence, a catalytically active thioredoxin domain, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]

GeneCards Summary for TMX1 Gene

TMX1 (Thioredoxin Related Transmembrane Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein disulfide isomerase activity and disulfide oxidoreductase activity. An important paralog of this gene is TMX4.

UniProtKB/Swiss-Prot for TMX1 Gene

  • May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions.

Gene Wiki entry for TMX1 Gene

Additional gene information for TMX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMX1 Gene

Genomics for TMX1 Gene

GeneHancer (GH) Regulatory Elements for TMX1 Gene

Promoters and enhancers for TMX1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J051239 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 453 2.4 HDGF PKNOX1 ARID4B SIN3A DMAP1 IRF4 YY1 POLR2B E2F8 ZNF207 TMX1 TRIM9 ENSG00000270062 GC14P051245
GH14J050665 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.3 -572.0 -572025 5.9 HDGF HNRNPUL1 PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF213 SAV1 TMX1 POLE2 VCPKMT MAP4K5 CDKL1 GC14M050664 GC14P050662
GH14J051649 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.4 +412.8 412768 6.6 ARID4B SIN3A GLI4 BRCA1 ZNF48 GLIS2 ZNF213 ZNF207 ZNF143 ATF7 FRMD6 FRMD6-AS1 TMX1 GNG2 RNU6-301P RNA5SP385
GH14J051581 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.9 +341.6 341619 1.5 PKNOX1 INSM2 MZF1 FEZF1 ZNF2 ZEB1 ZNF213 RCOR1 KLF7 FOS FRMD6 TMX1 RNU6-1291P PTGER2 FRMD6-AS2
GH14J052075 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +839.3 839284 7.3 MXI1 JUN MAX RAD21 BRCA1 RARA RFX5 GTF3C2 POLR2A RCOR1 NID2 TMX1 LOC105378180 GC14P052112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMX1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMX1 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • MZF-1
  • AML1a
  • C/EBPalpha
  • S8

Genomic Locations for TMX1 Gene

Genomic Locations for TMX1 Gene
17,494 bases
Plus strand
17,494 bases
Plus strand

Genomic View for TMX1 Gene

Genes around TMX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMX1 Gene

Proteins for TMX1 Gene

  • Protein details for TMX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thioredoxin-related transmembrane protein 1
    Protein Accession:
    Secondary Accessions:
    • B2R7A4
    • Q8N487
    • Q8NBN5
    • Q9Y4T6

    Protein attributes for TMX1 Gene

    280 amino acids
    Molecular mass:
    31791 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TMX1 Gene

neXtProt entry for TMX1 Gene

Post-translational modifications for TMX1 Gene

  • Ubiquitination at posLast=130130, posLast=121121, and isoforms=107
  • Modification sites at PhosphoSitePlus

Other Protein References for TMX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMX1 Gene

Domains & Families for TMX1 Gene

Gene Families for TMX1 Gene

Protein Domains for TMX1 Gene

Suggested Antigen Peptide Sequences for TMX1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TMX1: view

No data available for UniProtKB/Swiss-Prot for TMX1 Gene

Function for TMX1 Gene

Molecular function for TMX1 Gene

UniProtKB/Swiss-Prot Function:
May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions.

Phenotypes From GWAS Catalog for TMX1 Gene

Gene Ontology (GO) - Molecular Function for TMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003756 protein disulfide isomerase activity IBA --
GO:0015036 disulfide oxidoreductase activity IDA 11152479
genes like me logo Genes that share ontologies with TMX1: view
genes like me logo Genes that share phenotypes with TMX1: view

Animal Models for TMX1 Gene

MGI Knock Outs for TMX1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMX1

Clone Products

  • Addgene plasmids for TMX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMX1 Gene

Localization for TMX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMX1 Gene

Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Predominantly found in the endoplasmic reticulum. {ECO:0000269 PubMed:11152479}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMX1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Nucleoli (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum IBA,IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 11152479
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMX1: view

Pathways & Interactions for TMX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding IBA --
GO:0034976 response to endoplasmic reticulum stress IMP 11152479
GO:0045454 cell redox homeostasis IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with TMX1: view

No data available for Pathways by source and SIGNOR curated interactions for TMX1 Gene

Drugs & Compounds for TMX1 Gene

No Compound Related Data Available

Transcripts for TMX1 Gene

mRNA/cDNA for TMX1 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(162) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMX1 Gene

Thioredoxin-related transmembrane protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for TMX1

Alternative Splicing Database (ASD) splice patterns (SP) for TMX1 Gene

No ASD Table

Relevant External Links for TMX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TMX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TMX1 Gene

This gene is overexpressed in Nasal epithelium (14.4) and Bone (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMX1 Gene

Protein tissue co-expression partners for TMX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMX1 Gene:


SOURCE GeneReport for Unigene cluster for TMX1 Gene:


mRNA Expression by UniProt/SwissProt for TMX1 Gene:

Tissue specificity: Ubiquitous. Highly expressed in kidney, liver, placenta and lung.

Evidence on tissue expression from TISSUES for TMX1 Gene

  • Nervous system(4.6)
  • Blood(4.3)
  • Intestine(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with TMX1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMX1 Gene

Orthologs for TMX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TMX1 34 33
  • 99.17 (n)
(Canis familiaris)
Mammalia TMX1 34 33
  • 91.85 (n)
(Bos Taurus)
Mammalia TMX1 34 33
  • 90.53 (n)
(Rattus norvegicus)
Mammalia Tmx1 33
  • 82.95 (n)
(Mus musculus)
Mammalia Tmx1 16 34 33
  • 82.31 (n)
(Monodelphis domestica)
Mammalia TMX1 34
  • 78 (a)
(Ornithorhynchus anatinus)
Mammalia TMX1 34
  • 77 (a)
(Gallus gallus)
Aves TMX1 34
  • 53 (a)
(Anolis carolinensis)
Reptilia TMX1 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx1 33
  • 66.8 (n)
(Danio rerio)
Actinopterygii tmx1 34 33
  • 64.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5554 34 33
  • 50 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001613 33
  • 49.5 (n)
(Caenorhabditis elegans)
Secernentea dpy-11 34 33
  • 53.64 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
Species where no ortholog for TMX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMX1 Gene

Gene Tree for TMX1 (if available)
Gene Tree for TMX1 (if available)
Evolutionary constrained regions (ECRs) for TMX1: view image

Paralogs for TMX1 Gene

Paralogs for TMX1 Gene

(5) SIMAP similar genes for TMX1 Gene using alignment to 2 proteins:

  • G3V448_HUMAN Pseudogenes for TMX1 Gene

genes like me logo Genes that share paralogs with TMX1: view

Variants for TMX1 Gene

Sequence variations from dbSNP and Humsavar for TMX1 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1000023351 -- 51,247,477(+) C/T intron_variant
rs1000052998 -- 51,249,727(+) C/T coding_sequence_variant, missense_variant
rs1000135242 -- 51,253,415(+) A/G intron_variant
rs1000166520 -- 51,238,852(+) G/A/C upstream_transcript_variant
rs1000236620 -- 51,241,241(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMX1 Gene

Variant ID Type Subtype PubMed ID
esv3305962 CNV mobile element insertion 20981092
esv3309911 CNV mobile element insertion 20981092
esv3371321 CNV insertion 20981092
esv3411470 CNV insertion 20981092
esv3436254 CNV insertion 20981092
esv3584426 CNV gain 25503493
nsv1116512 OTHER inversion 24896259
nsv952838 CNV duplication 24416366

Variation tolerance for TMX1 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMX1 Gene

Disorders for TMX1 Gene

Additional Disease Information for TMX1

No disorders were found for TMX1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMX1 Gene

Publications for TMX1 Gene

  1. Identification of a novel thioredoxin-related transmembrane protein. (PMID: 11152479) Matsuo Y … Kizaka-Kondoh S (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. Physical and functional interaction of transmembrane thioredoxin-related protein with major histocompatibility complex class I heavy chain: redox-based protein quality control and its potential relevance to immune responses. (PMID: 19741092) Matsuo Y … Yodoi J (Molecular biology of the cell 2009) 3 22 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TMX1 Gene

  • Addgene plasmids for TMX1

Sources for TMX1 Gene

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