• Gene id: 93643

Gene Summary

• Gene Symbol: TJAP1   Gene   UCSC   Ensembl
• Aliases: PILT, TJP4
• Gene name: tight junction associated protein 1
• Alternate names: tight junction-associated protein 1, protein incorporated later into tight junctions, tight junction associated protein 1 (peripheral), tight junction protein 4 (peripheral),
• Gene location: 6p21.1 (43477522: 43506555)     Exons: 15     NC_000006.12
• Gene summary(Entrez): This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alte
• OMIM: 612658

Protein Summary

• Protein general information: Q5JTD0  
  • Name: Tight junction associated protein 1 (Protein incorporated later into tight junctions) (Tight junction protein 4)
  • Length: 557  
  • Mass: 61821
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MTSAAPAKKPYRKAPPEHRELRLEIPGSRLEQEEPLTDAERMKLLQEENEELRRRLASATRRTEALERELEIGQD
  CLELELGQSREELDKFKDKFRRLQNSYTASQRTNQELEDKLHTLASLSHSWIFAIKKAEMDRKTLDWEIVELTNK
  LLDAKNTINKLEELNERYRLDCNLAVQLLKCNKSHFRNHKFADLPCELQDMVRKHLHSGQEAASPGPAPSLAPGA
  VVPTSVIARVLEKPESLLLNSAQSGSAGRPLAEDVFVHVDMSEGVPGDPASPPAPGSPTPQPNGECHSLGTARGS
  PEEELPLPAFEKLNPYPTPSPPHPLYPGRRVIEFSEDKVRIPRNSPLPNCTYATRQAISLSLVEEGSERARPSPV
  PSTPASAQASPHHQPSPAPLTLSAPASSASSEEDLLVSWQRAFVDRTPPPAAVAQRTAFGRDALPELQRHFAHSP
  ADRDEVVQAPSARPEESELLLPTEPDSGFPREEEELNLPISPEEERQSLLPINRGTEEGPGTSHTEGRAWPLPSS
  SRPQRSPKRMGVHHLHRKDSLTQAQEQGNLLN

• Structural information:
  • Interpro: IPR028179  
  • STRING: ENSP00000361522
• Other Databases: GeneCards:  TJAP1  Malacards:  TJAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0007030	Golgi organization	IBA	biological process
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005923	bicellular tight junction	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:0005768	endosome	IEA	cellular component
GO:0005802	trans-Golgi network	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007030	Golgi organization	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005923	bicellular tight junction	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04530	Tight junction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq