• Gene id: 390594

Gene Summary

• Gene Symbol: KBTBD13   Gene   UCSC   Ensembl
• Aliases: HCG1645727, NEM6
• Gene name: kelch repeat and BTB domain containing 13
• Alternate names: kelch repeat and BTB domain-containing protein 13, kelch repeat and BTB (POZ) domain containing 13, nemaline myopathy type 6,
• Gene location: 15q22.31 (65076815: 65079937)     Exons: 1     NC_000015.10
• Gene summary(Entrez): The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-con
• OMIM: 613442

Protein Summary

• Protein general information: C9JR72  
  • Name: Kelch repeat and BTB domain containing protein 13
  • Length: 458  
  • Mass: 49485
  • Tissue specificity: Expressed in skeletal muscle. {ECO
• Sequence:

  MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRATLQVLRGDRPALAAE
  DELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRDVFHSAALFICDGERELAAELALPEARAYVA
  ALRPSSYAAVSTHTPAPGFLEDASRTLCYLDEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVV
  ELGFCYDPDGGTWHEFPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPC
  AQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGPSDDFLHCAIDCLNLA
  TGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGTWRLLREKAGFPRPGSLQTFLLRLPPGAPGP
  VTSTTAEL

• Structural information:
  • Protein Domains: (7..7-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR015915  IPR006652  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000388723
• Other Databases: GeneCards:  KBTBD13  Malacards:  KBTBD13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043687	post-translational protein modification	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Nemaline myopathy	KEGG:H00698
Nemaline myopathy	KEGG:H00698
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq