AutismKB 2.0

Annotation Details for KLHL1


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Basic Information Top
Gene Symbol:KLHL1 ( FLJ30047,KIAA1490,MRP2 )
Gene Full Name: kelch-like 1 (Drosophila)
Band: 13q21.33
Quick LinksEntrez ID:57626; OMIM: 605332; Uniprot ID:KLHL1_HUMAN; ENSEMBL ID: ENSG00000150361; HGNC ID: 6352
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm10888605
GO:0005856IEA-cytoskeleton-
GO:0030425IBA-dendrite-
GO:0031463IBA-Cul3-RING ubiquitin ligase complex-
GO:0043025IBA-neuronal cell body-
GO ID Evidence Qualifier GO_term References
GO:0003779NAS-actin binding10888605
GO:0004842IBAcontributes_toubiquitin-protein transferase activity-
GO ID Evidence Qualifier GO_term References
GO:0007628IEA-adult walking behavior-
GO:0016358IBA-dendrite development-
GO:0016567IEA-protein ubiquitination-
GO:0021680IEA-cerebellar Purkinje cell layer development-
GO:0030036NAS-actin cytoskeleton organization10888605
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2136335
  • Data Attributes: MGI curated and HomoloGene calculated
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018