• Gene id: 55080

Gene Summary

• Gene Symbol: TAPBPL   Gene   UCSC   Ensembl
• Aliases: TAPBP-R, TAPBPR
• Gene name: TAP binding protein like
• Alternate names: tapasin-related protein, TAP binding protein related, TAP-binding protein-related protein, TAPASIN-R, tapasin-like,
• Gene location: 12p13.31 (6451655: 6472005)     Exons: 12     NC_000012.12
• Gene summary(Entrez): Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulu
• OMIM: 182331

Protein Summary

• Protein general information: Q9BX59  
  • Name: Tapasin related protein (TAPASIN R) (TAP binding protein like) (TAP binding protein related protein) (TAPBP R) (Tapasin like)
  • Length: 468  
  • Mass: 50183
• Sequence:

  MGTQEGWCLLLCLALSGAAETKPHPAEGQWRAVDVVLDCFLAKDGAHRGALASSEDRARASLVLKQVPVLDDGSL
  EDFTDFQGGTLAQDDPPIIFEASVDLVQIPQAEALLHADCSGKEVTCEISRYFLQMTETTVKTAAWFMANMQVSG
  GGPSISLVMKTPRVTKNEALWHPTLNLPLSPQGTVRTAVEFQVMTQTQSLSFLLGSSASLDCGFSMAPGLDLISV
  EWRLQHKGRGQLVYSWTAGQGQAVRKGATLEPAQLGMARDASLTLPGLTIQDEGTYICQITTSLYRAQQIIQLNI
  QASPKVRLSLANEALLPTLICDIAGYYPLDVVVTWTREELGGSPAQVSGASFSSLRQSVAGTYSISSSLTAEPGS
  AGATYTCQVTHISLEEPLGASTQVVPPERRTALGVIFASSLFLLALMFLGLQRRQAPTGLGLLQAERWETTSCAD
  TQSSHLHEDRTARVSQPS

• Structural information:
  • Protein Domains: (181..29-)
    (/note="Ig-like-V-type)
    (304..39-)
    (/note="Ig-like-C1-type")
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003006  IPR003597   IPR003599  IPR013106  
  • Prosite: PS50835 PS00290
  • PDB: 5WER
  • PDBsum: 5WER
  • STRING: ENSP00000266556
• Other Databases: GeneCards:  TAPBPL  Malacards:  TAPBPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002502	peptide antigen assembly with MHC class I protein complex	IDA	biological process
GO:0023024	MHC class I protein complex binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0002590	negative regulation of antigen processing and presentation of peptide antigen via MHC class I	IDA	biological process
GO:0023024	MHC class I protein complex binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R