AutismKB 2.0

Annotation Details for MYO1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MYO1A ( BBMI,DFNA48,MIHC,MYHL )
Gene Full Name: myosin IA
Band: 12q13.3
Quick LinksEntrez ID:4640; OMIM: 601478; Uniprot ID:MYO1A_HUMAN; ENSEMBL ID: ENSG00000166866; HGNC ID: 7595
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm9858156
GO:0005902IDA-microvillus9858156
GO:0005903IDA-brush border9858156
GO:0009925IEA-basal plasma membrane-
GO:0016323IDA-basolateral plasma membrane9858156
GO:0016324IEA-apical plasma membrane-
GO:0016328IDA-lateral plasma membrane9858156
GO:0016459IEA-myosin complex-
GO:0030864IDA-cortical actin cytoskeleton8692943
GO:0031941IDA-filamentous actin9858156
GO:0044853IEA-plasma membrane raft-
GO ID Evidence Qualifier GO_term References
GO:0003774IEA-motor activity-
GO:0005516IEA-calmodulin binding-
GO:0005524IEA-ATP binding-
GO:0051015IEA-actin filament binding-
GO ID Evidence Qualifier GO_term References
GO:0007605IMP-sensory perception of sound12736868
GO:0030033IEA-microvillus assembly-
GO:0051648IMP-vesicle localization8692943
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
MYO1ACNN11107242161834 Reconstituted Complex
MYO1ACNN11076642161834 Reconstituted Complex
DISC1MYO1A11806112812986 Two-hybrid
DISC1MYO1A11072412812986 Two-hybrid
USP20MYO1A11072419615732 Affinity Capture-MS
USP20MYO1A11607719615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:107732
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (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