• Gene id: 143879

Gene Summary

• Gene Symbol: KBTBD3   Gene   UCSC   Ensembl
• Aliases: BKLHD3
• Gene name: kelch repeat and BTB domain containing 3
• Alternate names: kelch repeat and BTB domain-containing protein 3, BTB and kelch domain containing 3, BTB and kelch domain-containing protein 3, epididymis secretory sperm binding protein, kelch repeat and BTB (POZ) domain containing 3,
• Gene location: 11q22.3 (106077764: 106046800)     Exons: 5     NC_000011.10

Protein Summary

• Protein general information: Q8NAB2  
  • Name: Kelch repeat and BTB domain containing protein 3 (BTB and kelch domain containing protein 3)
  • Length: 612  
  • Mass: 69839
• Sequence:

  MELAMDNSYAFNQRSTCNGIPSEKKNNFLVSEDHGQKILSVLQNFREQNVFYDFKIIMKDEIIPCHRCVLAACSD
  FFRAMFEVNMKERDDGSVTITNLSSKAVKAFLDYAYTGKTKITDDNVEMFFQLSSFLQVSFLSKACSDFLIKSIN
  LVNCLQLLSISDSYGSTSLFDHALHFVQHHFSLLFKSSDFLEMNFGVLQKCLESDELNVPEEEMVLKVVLSWTKH
  NLESRQKYLPHLIEKVRLHQLSEETLQDCLFNEESLLKSTNCFDIIMDAIKCVQGSGGLFPDARPSTTEKYIFIH
  KTEENGENQYTFCYNIKSDSWKILPQSHLIDLPGSSLSSYGEKIFLTGGCKGKCCRTVRLHIAESYHDATDQTWC
  YCPVKNDFFLVSTMKTPRTMHTSVMALDRLFVIGGKTRGSRDIKSLLDVESYNPLSKEWISVSPLPRGIYYPEAS
  TCQNVIYVLGSEVEITDAFNPSLDCFFKYNATTDQWSELVAEFGQFFHATLIKAVPVNCTLYICDLSTYKVYSFC
  PDTCVWKGEGSFECAGFNAGAIGIEDKIYILGGDYAPDEITDEVQVYHSNRSEWEEVSPMPRALTEFYCQVIQFN
  KYRDPWFSNLCA

• Structural information:
  • Protein Domains: (52..11-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (154..25-)
    (/note="BACK-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000436262
• Other Databases: GeneCards:  KBTBD3  Malacards:  KBTBD3

Diseases

Associated diseases	References
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)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)