• Gene id: 55623

Gene Summary

• Gene Symbol: THUMPD1   Gene   UCSC   Ensembl
• Aliases: Tan1
• Gene name: THUMP domain containing 1
• Alternate names: THUMP domain-containing protein 1,
• Gene location: 16p12.3 (20741829: 20730588)     Exons: 8     NC_000016.10
• OMIM: 616662

Protein Summary

• Protein general information: Q9NXG2  
  • Name: THUMP domain containing protein 1
  • Length: 353  
  • Mass: 39315
• Sequence:

  MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQGILITCNMNERKCVEEAYSLLNEYGDDMYGP
  EKFTDKDQQPSGSEGEDDDAEAALKKEVGDIKASTEMRLRRFQSVESGANNVVFIRTLGIEPEKLVHHILQDMYK
  TKKKKTRVILRMLPISGTCKAFLEDMKKYAETFLEPWFKAPNKGTFQIVYKSRNNSHVNREEVIRELAGIVCTLN
  SENKVDLTNPQYTVVVEIIKAVCCLSVVKDYMLFRKYNLQEVVKSPKDPSQLNSKQGNGKEAKLESADKSDQNNT
  AEGKNNQQVPENTEELGQTKPTSNPQVVNEGGAKPELASQATEGSKSNENDFS

• Structural information:
  • Protein Domains: (147..25-)
    (/note="THUMP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00529"-)
  • Interpro: IPR004114  IPR040183  
  • Prosite: PS51165
  • CDD: cd11717
  • PDB: 2DIR
  • PDBsum: 2DIR
  • STRING: ENSP00000370741
• Other Databases: GeneCards:  THUMPD1  Malacards:  THUMPD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003723	RNA binding	IBA	molecular function
GO:0006400	tRNA modification	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006400	tRNA modification	IEA	biological process
GO:0000154	rRNA modification	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

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