• Gene id: 57626

Gene Summary

• Gene Symbol: KLHL1   Gene   UCSC   Ensembl
• Aliases: MRP2
• Gene name: kelch like family member 1
• Alternate names: kelch-like protein 1, Mayven-related protein 2,
• Gene location: 13q21.33 (70108492: 69700592)     Exons: 13     NC_000013.11
• Gene summary(Entrez): The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).[supplied by OMIM, Feb 2010]
• OMIM: 605332

Protein Summary

• Protein general information: Q9NR64  
  • Name: Kelch like protein 1
  • Length: 748  
  • Mass: 82680
  • Tissue specificity: Highly expressed in brain.
• Sequence:

  MSGSGRKDFDVKHILRLRWKLFSHPSPSTGGPAGGGCLQQDGSGSFEHWGPSQSRLLKSQERSGVSTFWKKPSSS
  SSSSSSPSSSSSSFNPLNGTLLPVATRLQQGAPGQGTQQPARTLFYVESLEEEVVPGMDFPGPHEKGLVLQELKV
  EPDNSSQATGEGCGHRLSSTGHSMTPQSDLDSSSSEEFYQAVHHAEQTFRKMESYLKQQQLCDVILIVGNRKIPA
  HRLVLSSVSDYFAAMFTSDVCEAKQEEIKMEGIDPNALWDLVQFAYTGCLELKEDTIENLLAAACLLQLPQVVEV
  CCHFLMKLLHPSNCLGIRAFADAQGCIELMKVAHSYTMENIMEVIRNQEFLLLPAEELHKLLASDDVNVPDEETI
  FHALMMWVKYDMQSRCNDLSMLLAFIRLPLLPPQILADLENHALFKNDLECQKLILEAMKYHLLPERRTLMQSPR
  TKPRKSTVGTLYAVGGMDNNKGATTIEKYDLRTNLWIQAGMMNGRRLQFGVAVIDDKLFVIGGRDGLKTLNTVEC
  YNPKTKTWTVLPPMSTHRHGLGVTVLEGPIYAVGGHDGWSYLNTVERWDPQSQQWTFVASMSIARSTVGVAALNG
  KLYSVGGRDGSSCLSSMEYYDPHTNKWNMCAPMCKRRGGVGVATCDGFLYAVGGHDAPASNHCSRLLDYVERYDP
  KTDTWTMVAPLSMPRDAVGVCLLGDRLYAVGGYDGQTYLNTMESYDPQTNEWTQMASLNIGRAGACVVVIKQP

• Structural information:
  • Protein Domains: (212..27-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR011705  IPR000210  IPR015915  IPR006652  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000367075
• Other Databases: GeneCards:  KLHL1  Malacards:  KLHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030425	dendrite	IBA	cellular component
GO:0016358	dendrite development	IBA	biological process
GO:0043025	neuronal cell body	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007626	locomotory behavior	IEA	biological process
GO:0016358	dendrite development	IEA	biological process
GO:0021680	cerebellar Purkinje cell layer development	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0007628	adult walking behavior	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0030036	actin cytoskeleton organization	NAS	biological process
GO:0003779	actin binding	NAS	molecular function

Diseases

Associated diseases	References
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