AutismKB 2.0

Annotation Details for KIAA1598


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Basic Information Top
Gene Symbol:KIAA1598 ( DKFZp686A0439,MGC40476,SHOOTIN1,shootin-1 )
Gene Full Name: KIAA1598
Band: 10q25.3
Quick LinksEntrez ID:57698; OMIM: 611171; Uniprot ID:SHOT1_HUMAN; ENSEMBL ID: ENSG00000187164; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IDA-cytoplasm25468996
GO:0005874IEA-microtubule-
GO:0005875ISS-microtubule associated complex-
GO:0015630ISS-microtubule cytoskeleton-
GO:0030027ISS-lamellipodium-
GO:0030175ISS-filopodium-
GO:0030424ISS-axon-
GO:0030426ISS-growth cone-
GO:0031252ISS-cell leading edge-
GO:0043204ISS-perikaryon-
GO:0044295ISS-axonal growth cone-
GO:0048471ISS-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding25416956
GO:0019894IEA-kinesin binding-
GO:0045296IDA-cadherin binding25468996
GO:0051015ISS-actin filament binding-
GO ID Evidence Qualifier GO_term References
GO:0006930ISS-substrate-dependent cell migration, cell extension-
GO:0007265ISS-Ras protein signal transduction-
GO:0007409ISS-axonogenesis-
GO:0032488ISS-Cdc42 protein signal transduction-
GO:0038007ISS-netrin-activated signaling pathway-
GO:0045773ISS-positive regulation of axon extension-
GO:0048812ISS-neuron projection morphogenesis-
GO:0060327ISS-cytoplasmic actin-based contraction involved in cell motility-
GO:0061163ISS-endoplasmic reticulum polarization-
GO:0061573ISS-actin filament bundle retrograde transport-
GO:2000114ISS-regulation of establishment of cell polarity-
GO:2001224IDA-positive regulation of neuron migration23864681
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
KIAA1598IKBKG12172320098747 Reconstituted Complex
KIAA1598IKBKG11408920098747 Reconstituted Complex
No data
Gene Symbol Interactant Interaction ID References Description
MEGF10KIAA15981438412421765 -
MEGF10KIAA15981115512421765 -
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1918903
  • Data Attributes: 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


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