• Gene id: 54495

Gene Summary

• Gene Symbol: TMX3   Gene   UCSC   Ensembl
• Aliases: PDIA13, TXNDC10
• Gene name: thioredoxin related transmembrane protein 3
• Alternate names: protein disulfide-isomerase TMX3, protein disulfide isomerase family A, member 13, thioredoxin domain containing 10, thioredoxin domain-containing protein 10,
• Gene location: 18q22.1 (68715172: 68673687)     Exons: 19     NC_000018.10
• 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 canonical protein encoded by this gene has an N-terminal ER-signal seque
• OMIM: 605534

Protein Summary

• Protein general information: Q96JJ7  
  • Name: Protein disulfide isomerase TMX3 (EC 5.3.4.1) (Thioredoxin domain containing protein 10) (Thioredoxin related transmembrane protein 3)
  • Length: 454  
  • Mass: 51872
  • Tissue specificity: Widely expressed. Expressed in brain, testis, lung, skin, kidney, uterus, bone, stomach, liver, prostate, placenta, eye and muscle. {ECO
• Sequence:

  MAAWKSWTALRLCATVVVLDMVVCKGFVEDLDESFKENRNDDIWLVDFYAPWCGHCKKLEPIWNEVGLEMKSIGS
  PVKVGKMDATSYSSIASEFGVRGYPTIKLLKGDLAYNYRGPRTKDDIIEFAHRVSGALIRPLPSQQMFEHMQKRH
  RVFFVYVGGESPLKEKYIDAASELIVYTYFFSASEEVVPEYVTLKEMPAVLVFKDETYFVYDEYEDGDLSSWINR
  ERFQNYLAMDGFLLYELGDTGKLVALAVIDEKNTSVEHTRLKSIIQEVARDYRDLFHRDFQFGHMDGNDYINTLL
  MDELTVPTVVVLNTSNQQYFLLDRQIKNVEDMVQFINNILDGTVEAQGGDSILQRLKRIVFDAKSTIVSIFKSSP
  LMGCFLFGLPLGVISIMCYGIYTADTDGGYIEERYEVSKSENENQEQIEESKEQQEPSSGGSVVPTVQEPKDVLE
  KKKD

• Structural information:
  • Protein Domains: (25..12-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR036249  IPR017937  IPR013766  
  • Prosite: PS00194 PS51352
  • STRING: ENSP00000299608
• Other Databases: GeneCards:  TMX3  Malacards:  TMX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018171	peptidyl-cysteine oxidation	IBA	biological process
GO:0016972	thiol oxidase activity	IBA	molecular function
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0009986	cell surface	IBA	cellular component
GO:0045454	cell redox homeostasis	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016853	isomerase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003756	protein disulfide isomerase activity	IEA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016972	thiol oxidase activity	IDA	molecular function
GO:0018171	peptidyl-cysteine oxidation	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray