• Gene id: 81542

Gene Summary

• Gene Symbol: TMX1   Gene   UCSC   Ensembl
• Aliases: PDIA11, TMX, TXNDC, TXNDC1
• Gene name: thioredoxin related transmembrane protein 1
• Alternate names: thioredoxin-related transmembrane protein 1, protein disulfide isomerase family A, member 11, thioredoxin domain containing 1, thioredoxin domain-containing protein 1, transmembrane Trx-related protein,
• Gene location: 14q22.1 (51240246: 51257654)     Exons: 8     NC_000014.9
• Gene summary(Entrez): 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 ac
• OMIM: 610527

Protein Summary

• Protein general information: Q9H3N1  
  • Name: Thioredoxin related transmembrane protein 1 (Thioredoxin domain containing protein 1) (Transmembrane Trx related protein)
  • Length: 280  
  • Mass: 31791
  • Tissue specificity: Ubiquitous. Highly expressed in kidney, liver, placenta and lung.
• Sequence:

  MAPSGSLAVPLAVLVLLLWGAPWTHGRRSNVRVITDENWRELLEGDWMIEFYAPWCPACQNLQPEWESFAEWGED
  LEVNIAKVDVTEQPGLSGRFIITALPTIYHCKDGEFRRYQGPRTKKDFINFISDKEWKSIEPVSSWFGPGSVLMS
  SMSALFQLSMWIRTCHNYFIEDLGLPVWGSYTVFALATLFSGLLLGLCMIFVADCLCPSKRRRPQPYPYPSKKLL
  SESAQPLKKVEEEQEADEEDVSEEEAESKEGTNKDFPQNAIRQRSLGPSLATDKS

• Structural information:
  • Protein Domains: (27..13-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR036249  IPR017937  IPR013766  
  • Prosite: PS00194 PS51352
  • PDB: 1X5E
  • PDBsum: 1X5E
  • STRING: ENSP00000393316
• Other Databases: GeneCards:  TMX1  Malacards:  TMX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015036	disulfide oxidoreductase activity	IDA	molecular function
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0015036	disulfide oxidoreductase activity	IDA	molecular function
GO:0034976	response to endoplasmic reticulum stress	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881