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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

  • TXNDC
  • 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. 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

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

Genomics for TMX1 Gene

Regulatory Elements for TMX1 Gene

Enhancers for TMX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G052075 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +839.3 839285 7.3 TBP RAD21 BRCA1 RARA RFX5 TCF12 GTF3C2 GATA2 RCOR1 FOS NID2 TMX1 LOC105378180 GC14P052112
GH14G050665 1.3 ENCODE dbSUPER 13.3 -571.9 -571874 5.6 HDGF HNRNPUL1 PKNOX1 WRNIP1 ARID4B SIN3A ZNF2 ZNF143 FOS ZNF263 SAV1 TMX1 POLE2 VCPKMT MAP4K5 CDKL1 GC14M050664
GH14G051581 1.4 Ensembl ENCODE dbSUPER 11.8 +341.6 341619 1.5 PKNOX1 FEZF1 ZNF2 ZNF302 GATA2 KLF7 FOS REST TSHZ1 ZNF488 FRMD6 TMX1 RNU6-1291P PTGER2 FRMD6-AS2
GH14G051138 0.8 Ensembl ENCODE 17.1 -101.1 -101058 1.8 ZFHX2 RFX1 HLF ZNF350 FOS TRIM28 TMX1 TRIM9
GH14G051203 0.7 ENCODE 18.5 -36.8 -36805 0.2 CTCF BACH1 EBF1 RELA RFX5 EED RELB IKZF2 CREM MTA2 TMX1 ENSG00000201376 TRIM9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMX1 on UCSC Golden Path with GeneCards custom track

Promoters for TMX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000068229 439 2400 HDGF PKNOX1 ATF1 ARID4B E2F7 SIN3A DMAP1 ZNF48 YY1 GLIS2

Genomic Location for TMX1 Gene

Chromosome:
14
Start:
51,240,162 bp from pter
End:
51,257,655 bp from pter
Size:
17,494 bases
Orientation:
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:
    Q9H3N1-TMX1_HUMAN
    Recommended name:
    Thioredoxin-related transmembrane protein 1
    Protein Accession:
    Q9H3N1
    Secondary Accessions:
    • B2R7A4
    • Q8N487
    • Q8NBN5
    • Q9Y4T6

    Protein attributes for TMX1 Gene

    Size:
    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 isoforms=107, Lys121, and Lys130
  • 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.

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

Phenotypes for TMX1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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

COMPARTMENTS
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

Gene Ontology (GO) - Cellular Components for TMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005783 endoplasmic reticulum 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

Unigene Clusters for TMX1 Gene

Thioredoxin-related transmembrane protein 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
TMX1
ECgene alternative splicing isoforms for
TMX1

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, PaxDb, 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:

TMX1

SOURCE GeneReport for Unigene cluster for TMX1 Gene:

Hs.125221

mRNA Expression by UniProt/SwissProt for TMX1 Gene:

Q9H3N1-TMX1_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia TMX1 34 35
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia TMX1 34 35
  • 91.85 (n)
cow
(Bos Taurus)
Mammalia TMX1 34 35
  • 90.53 (n)
rat
(Rattus norvegicus)
Mammalia Tmx1 34
  • 82.95 (n)
mouse
(Mus musculus)
Mammalia Tmx1 34 16 35
  • 82.31 (n)
oppossum
(Monodelphis domestica)
Mammalia TMX1 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMX1 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMX1 35
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMX1 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tmx1 34
  • 66.8 (n)
zebrafish
(Danio rerio)
Actinopterygii tmx1 34 35
  • 64.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5554 34 35
  • 50 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001613 34
  • 49.5 (n)
worm
(Caenorhabditis elegans)
Secernentea dpy-11 35 34
  • 53.64 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
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

ENSEMBL:
Gene Tree for TMX1 (if available)
TreeFam:
Gene Tree for TMX1 (if available)

Paralogs for TMX1 Gene

Paralogs for TMX1 Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs1000023351 -- 51,247,477(+) TCAGC(C/T)TCCCG intron-variant
rs1000052998 -- 51,249,727(+) TCCTT(C/T)AAAAA reference, missense
rs1000135242 -- 51,253,415(+) GATGG(A/G)TGCCA intron-variant
rs1000166520 -- 51,238,852(+) GTGGC(A/C/G)GGAGA upstream-variant-2KB
rs1000236620 -- 51,241,241(+) TTAAT(A/T)ATATC 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)

Relevant External Links for TMX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMX1

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

Disorders for TMX1 Gene

Relevant External Links for TMX1

Genetic Association Database (GAD)
TMX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (J. Biol. Chem. 2001) 2 3 4 22 64
  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. (Mol. Biol. Cell 2009) 3 22 64
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  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 Res. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TMX1 Gene

Sources for TMX1 Gene

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