• Gene id: 54813

Gene Summary

• Gene Symbol: KLHL28   Gene   UCSC   Ensembl
• Aliases: BTBD5
• Gene name: kelch like family member 28
• Alternate names: kelch-like protein 28, BTB (POZ) domain containing 5, BTB/POZ domain-containing protein 5, kelch-like 28,
• Gene location: 14q21.2 (44961977: 44924323)     Exons: 8     NC_000014.9

Protein Summary

• Protein general information: Q9NXS3  
  • Name: Kelch like protein 28 (BTB/POZ domain containing protein 5)
  • Length: 571  
  • Mass: 64192
• Sequence:

  MDHTSPTYMLANLTHLHSEQLLQGLNLLRQHHELCDIILRVGDVKIHAHKVVLASVSPYFKAMFTGNLSEKENSE
  VEFQCIDETALQAIVEYAYTGTVFISQDTVESLLPAANLLQIKLVLKECCAFLESQLDPGNCIGISRFAETYGCR
  DLYLAATKYICQNFEAVCQTEEFFELTHADLDEIVSNDCLNVATEETVFYALESWIKYDVQERQKYLAQLLNSVR
  LPLLSVKFLTRLYEANHLIRDDRTCKHLLNEALKYHFMPEHRLSHQTVLMTRPRCAPKVLCAVGGKSGLFACLDS
  VEMYFPQNDSWIGLAPLNIPRYEFGICVLDQKVYVIGGIATNVRPGVTIRKHENSVECWNPDTNTWTSLERMNES
  RSTLGVVVLAGELYALGGYDGQSYLQSVEKYIPKIRKWQPVAPMTTTRSCFAAAVLDGMIYAIGGYGPAHMNSVE
  RYDPSKDSWEMVASMADKRIHFGVGVMLGFIFVVGGHNGVSHLSSIERYDPHQNQWTVCRPMKEPRTGVGAAVID
  NYLYVVGGHSGSSYLNTVQKYDPISDTWLDSAGMIYCRCNFGLTAL

• Structural information:
  • Protein Domains: (35..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR011043  IPR015915   IPR006652  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000379434
• Other Databases: GeneCards:  KLHL28  Malacards:  KLHL28

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