KLHL1 (kelch like family member 1)

Gene

• Entrez ID: 57626
• Gene name: Kelch like family member 1
• Gene symbol: KLHL1
• Synonyms (NCBI Gene): MRP2
• Chromosome: 13
• Chromosome location: 13q21.33
• Summary: 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]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017546	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	NAS	10888605
GO:0005515	Function	Protein binding	IPI	22632832, 25036637, 30190310, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10888605
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0007628	Process	Adult walking behavior	IEA
GO:0016358	Process	Dendrite development	IBA
GO:0016358	Process	Dendrite development	IEA
GO:0021680	Process	Cerebellar Purkinje cell layer development	IEA
GO:0030036	Process	Actin cytoskeleton organization	NAS	10888605
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0031463	Component	Cul3-RING ubiquitin ligase complex	IBA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IBA

Other IDs

• MIM: 605332
• HGNC: 6352
• e!Ensembl: ENSG00000150361

Protein

• UniProt ID: Q9NR64
• Protein name: Kelch-like protein 1
• Protein function: May play a role in organizing the actin cytoskeleton of the brain cells.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00651	BTB	202 → 309	BTB/POZ domain	Domain
  PF07707	BACK	314 → 415	BTB And C-terminal Kelch	Domain
  PF01344	Kelch_1	459 → 493	Kelch motif	Repeat
  PF01344	Kelch_1	495 → 540	Kelch motif	Repeat
  PF01344	Kelch_1	542 → 587	Kelch motif	Repeat
  PF01344	Kelch_1	589 → 633	Kelch motif	Repeat
  PF01344	Kelch_1	636 → 687	Kelch motif	Repeat
  PF01344	Kelch_1	689 → 734	Kelch motif	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in brain.
• Sequence:

  MSGSGRKDFDVKHILRLRWKLFSHPSPSTGGPAGGGCLQQDGSGSFEHWGPSQSRLLKSQ
  ERSGVSTFWKKPSSSSSSSSSPSSSSSSFNPLNGTLLPVATRLQQGAPGQGTQQPARTLF
  YVESLEEEVVPGMDFPGPHEKGLVLQELKVEPDNSSQATGEGCGHRLSSTGHSMTPQSDL
  DSSSSEEFYQAVHHAEQTFRKMESYLKQQQLCDVILIVGNRKIPAHRLVLSSVSDYFAAM
  FTSDVCEAKQEEIKMEGIDPNALWDLVQFAYTGCLELKEDTIENLLAAACLLQLPQVVEV
  CCHFLMKLLHPSNCLGIRAFADAQGCIELMKVAHSYTMENIMEVIRNQEFLLLPAEELHK
  LLASDDVNVPDEETIFHALMMWVKYDMQSRCNDLSMLLAFIRLPLLPPQILADLENHALF
  KNDLECQKLILEAMKYHLLPERRTLMQSPRTKPRKSTVGTLYAVGGMDNNKGATTIEKYD
  LRTNLWIQAGMMNGRRLQFGVAVIDDKLFVIGGRDGLKTLNTVECYNPKTKTWTVLPPMS
  THRHGLGVTVLEGPIYAVGGHDGWSYLNTVERWDPQSQQWTFVASMSIARSTVGVAALNG
  KLYSVGGRDGSSCLSSMEYYDPHTNKWNMCAPMCKRRGGVGVATCDGFLYAVGGHDAPAS
  NHCSRLLDYVERYDPKTDTWTMVAPLSMPRDAVGVCLLGDRLYAVGGYDGQTYLNTMESY
  DPQTNEWTQMASLNIGRAGACVVVIKQP

• Sequence length: 748

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
KLHL1-related disorder	Benign; Uncertain significance; Likely benign	rs3751427, rs111324959, rs191673952, rs145694020, rs75569924	RCV003974644 RCV003931676 RCV003931750 RCV003969091 RCV003928559

Associations from Text Mining
Disease Name	Relationship Type	References
Asthma	Associate	31379025
Diabetic Retinopathy	Associate	38194422
Inflammation	Associate	38194422
Inflammatory Bowel Diseases	Associate	30689765
Tuberculosis Multidrug Resistant	Associate	26743341