• Gene id: 27252

Gene Summary

• Gene Symbol: KLHL20   Gene   UCSC   Ensembl
• Aliases: KHLHX, KLEIP, KLHLX
• Gene name: kelch like family member 20
• Alternate names: kelch-like protein 20, Kelch motif containing protein, kelch-like ECT2-interacting protein, kelch-like protein X,
• Gene location: 1q25.1 (173714911: 173786825)     Exons: 13     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact
• OMIM: 607680

Protein Summary

• Protein general information: Q9Y2M5  
  • Name: Kelch like protein 20 (Kelch like ECT2 interacting protein) (Kelch like protein X)
  • Length: 609  
  • Mass: 67955
• Sequence:

  MEGKPMRRCTNIRPGETGMDVTSRCTLGDPNKLPEGVPQPARMPYISDKHPRQTLEVINLLRKHRELCDVVLVVG
  AKKIYAHRVILSACSPYFRAMFTGELAESRQTEVVIRDIDERAMELLIDFAYTSQITVEEGNVQTLLPAACLLQL
  AEIQEACCEFLKRQLDPSNCLGIRAFADTHSCRELLRIADKFTQHNFQEVMESEEFMLLPANQLIDIISSDELNV
  RSEEQVFNAVMAWVKYSIQERRPQLPQVLQHVRLPLLSPKFLVGTVGSDPLIKSDEECRDLVDEAKNYLLLPQER
  PLMQGPRTRPRKPIRCGEVLFAVGGWCSGDAISSVERYDPQTNEWRMVASMSKRRCGVGVSVLDDLLYAVGGHDG
  SSYLNSVERYDPKTNQWSSDVAPTSTCRTSVGVAVLGGFLYAVGGQDGVSCLNIVERYDPKENKWTRVASMSTRR
  LGVAVAVLGGFLYAVGGSDGTSPLNTVERYNPQENRWHTIAPMGTRRKHLGCAVYQDMIYAVGGRDDTTELSSAE
  RYNPRTNQWSPVVAMTSRRSGVGLAVVNGQLMAVGGFDGTTYLKTIEVFDPDANTWRLYGGMNYRRLGGGVGVIK
  MTHCESHIW

• Structural information:
  • Protein Domains: (68..13-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (170..27-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR011333  
  • Prosite: PS50097
  • PDB: 5YQ4 6GY5
  • PDBsum: 5YQ4 6GY5
  • STRING: ENSP00000209884
• Other Databases: GeneCards:  KLHL20  Malacards:  KLHL20

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IBA	cellular component
GO:0006895	Golgi to endosome transport	IBA	biological process
GO:0016605	PML body	IBA	cellular component
GO:0019964	interferon-gamma binding	IBA	molecular function
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:1990390	protein K33-linked ubiquitination	IBA	biological process
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0004842	ubiquitin-protein transferase activity	IDA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IDA	contributes to
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0031463	Cul3-RING ubiquitin ligase complex	IDA	cellular component
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0019964	interferon-gamma binding	IDA	molecular function
GO:0016605	PML body	IDA	cellular component
GO:0016567	protein ubiquitination	IDA	biological process
GO:1990390	protein K33-linked ubiquitination	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0035455	response to interferon-alpha	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006895	Golgi to endosome transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007010	cytoskeleton organization	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0005737	cytoplasm	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