• Gene id: 54800

Gene Summary

• Gene Symbol: KLHL24   Gene   UCSC   Ensembl
• Aliases: DRE1, EBSSH, KRIP6
• Gene name: kelch like family member 24
• Alternate names: kelch-like protein 24, kainate receptor interacting protein for GluR6, kelch-like 24,
• Gene location: 3q27.1 (183635618: 183684518)     Exons: 12     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protei
• OMIM: 611295

Protein Summary

• Protein general information: Q6TFL4  
  • Name: Kelch like protein 24 (Kainate receptor interacting protein for GluR6) (KRIP6) (Protein DRE1)
  • Length: 600  
  • Mass: 68361
  • Tissue specificity: Expressed in the skin (PubMed
• Sequence:

  MVLILGRRLNREDLGVRDSPATKRKVFEMDPKSLTGHEFFDFSSGSSHAENILQIFNEFRDSRLFTDVIICVEGK
  EFPCHRAVLSACSSYFRAMFCNDHRESREMLVEINGILAEAMECFLQYVYTGKVKITTENVQYLFETSSLFQISV
  LRDACAKFLEEQLDPCNCLGIQRFADTHSLKTLFTKCKNFALQTFEDVSQHEEFLELDKDELIDYICSDELVIGK
  EEMVFEAVMRWVYRAVDLRRPLLHELLTHVRLPLLHPNYFVQTVEVDQLIQNSPECYQLLHEARRYHILGNEMMS
  PRTRPRRSTGYSEVIVVVGGCERVGGFNLPYTECYDPVTGEWKSLAKLPEFTKSEYAVCALRNDILVSGGRINSR
  DVWIYNSQLNIWIRVASLNKGRWRHKMAVLLGKVYVVGGYDGQNRLSSVECYDSFSNRWTEVAPLKEAVSSPAVT
  SCVGKLFVIGGGPDDNTCSDKVQSYDPETNSWLLRAAIPIAKRCITAVSLNNLIYVAGGLTKAIYCYDPVEDYWM
  HVQNTFSRQENCGMSVCNGKIYILGGRRENGEATDTILCYDPATSIITGVAAMPRPVSYHGCVTIHRYNEKCFKL

• Structural information:
  • Protein Domains: (66..13-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (168..27-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030596  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000395012
• Other Databases: GeneCards:  KLHL24  Malacards:  KLHL24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005912	adherens junction	IDA	cellular component
GO:0030057	desmosome	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:0045109	intermediate filament organization	IMP	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0051865	protein autoubiquitination	IMP	biological process
GO:2000312	regulation of kainate selective glutamate receptor activity	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030057	desmosome	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005912	adherens junction	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Epidermolysis bullosa simplex	KEGG:H00584
Epidermolysis bullosa simplex	KEGG:H00584
Cryptorchidism	MIK: 28606200
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq