• Gene id: 25917

Gene Summary

• Gene Symbol: THUMPD3   Gene   UCSC   Ensembl
• Gene name: THUMP domain containing 3
• Alternate names: THUMP domain-containing protein 3,
• Gene location: 3p25.3 (9362861: 9386790)     Exons: 11     NC_000003.12
• OMIM: 0

Protein Summary

• Protein general information: Q9BV44  
  • Name: THUMP domain containing protein 3
  • Length: 507  
  • Mass: 57003
• Sequence:

  MCDIEEATNQLLDVNLHENQKSVQVTESDLGSESELLVTIGATVPTGFEQTAADEVREKLGSSCKISRDRGKIYF
  VISVESLAQVHCLRSVDNLFVVVQEFQDYQFKQTKEEVLKDFEDLAGKLPWSNPLKVWKINASFKKKKAKRKKIN
  QNSSKEKINNGQEVKIDQRNVKKEFTSHALDSHILDYYENPAIKEDVSTLIGDDLASCKDETDESSKEETEPQVL
  KFRVTCNRAGEKHCFTSNEAARDFGGAVQDYFKWKADMTNFDVEVLLNIHDNEVIVGIALTEESLHRRNITHFGP
  TTLRSTLAYGMLRLCDPLPYDIIVDPMCGTGAIPIEGATEWSDCFHIAGDNNPLAVNRAANNIASLLTKSQIKEG
  KPSWGLPIDAVQWDICNLPLRTGSVDIIVTDLPFGKRMGSKKRNWNLYPACLREMSRVCTPTTGRAVLLTQDTKC
  FTKALSGMRHVWRKVDTVWVNVGGLRAAVYVLIRTPQAFVHPSEQDGERGTLWQCKE

• Structural information:
  • Protein Domains: (165..28-)
    (/note="THUMP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00529"-)
  • Interpro: IPR000241  IPR029063  IPR004114  
  • Prosite: PS51165 PS01261
  • STRING: ENSP00000339532
• Other Databases: GeneCards:  THUMPD3  Malacards:  THUMPD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0016423	tRNA (guanine) methyltransferase activity	IBA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray