AutismKB 2.0

Annotation Details for NCKAP1L


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Basic Information Top
Gene Symbol:NCKAP1L ( HEM1 )
Gene Full Name: NCK-associated protein 1-like
Band: 12q13.13-q13.2
Quick LinksEntrez ID:3071; OMIM: 141180; Uniprot ID:NCKPL_HUMAN; ENSEMBL ID: ENSG00000123338; HGNC ID: 4862
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol16417406
GO:0005829TAS-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005887NAS-integral component of plasma membrane1932118
GO:0016020IDA-membrane19946888
GO:0030667TAS-secretory granule membrane-
GO:0031209IDA-SCAR complex16417406
GO:0070062IDA-extracellular exosome20458337
GO:0101003TAS-ficolin-1-rich granule membrane-
GO ID Evidence Qualifier GO_term References
GO:0005096IMP-GTPase activator activity16417406
GO:0005515IPI-protein binding16417406
GO:0030295IMP-protein kinase activator activity16417406
GO:0032403IDA-protein complex binding16417406
GO ID Evidence Qualifier GO_term References
GO:0001782ISS-B cell homeostasis-
GO:0002262ISS-myeloid cell homeostasis-
GO:0006461ISS-protein complex assembly-
GO:0006935IDA-chemotaxis16417406
GO:0030011IMP-maintenance of cell polarity16417406
GO:0030593IDA-neutrophil chemotaxis16417406
GO:0030838IMP-positive regulation of actin filament polymerization16417406
GO:0030866IMP-cortical actin cytoskeleton organization16417406
GO:0030866ISS-cortical actin cytoskeleton organization-
GO:0030890IMP-positive regulation of B cell proliferation17875758
GO:0032147IEA-activation of protein kinase activity-
GO:0032700ISS-negative regulation of interleukin-17 production-
GO:0032715ISS-negative regulation of interleukin-6 production-
GO:0033630ISS-positive regulation of cell adhesion mediated by integrin-
GO:0034101ISS-erythrocyte homeostasis-
GO:0035509IMP-negative regulation of myosin-light-chain-phosphatase activity16417406
GO:0038096TAS-Fc-gamma receptor signaling pathway involved in phagocytosis-
GO:0042102ISS-positive regulation of T cell proliferation-
GO:0042327IMP-positive regulation of phosphorylation16417406
GO:0042493IMP-response to drug17875758
GO:0043029ISS-T cell homeostasis-
GO:0043066IMP-negative regulation of apoptotic process17875758
GO:0043312TAS-neutrophil degranulation-
GO:0043372ISS-positive regulation of CD4-positive, alpha-beta T cell differentiation-
GO:0043378ISS-positive regulation of CD8-positive, alpha-beta T cell differentiation-
GO:0043547IEA-positive regulation of GTPase activity-
GO:0045579ISS-positive regulation of B cell differentiation-
GO:0045588ISS-positive regulation of gamma-delta T cell differentiation-
GO:0045621ISS-positive regulation of lymphocyte differentiation-
GO:0045648ISS-positive regulation of erythrocyte differentiation-
GO:0048010TAS-vascular endothelial growth factor receptor signaling pathway-
GO:0048821IEP-erythrocyte development7643388
GO:0050853IMP-B cell receptor signaling pathway17875758
GO:0060100ISS-positive regulation of phagocytosis, engulfment-
GO:0070358IMP-actin polymerization-dependent cell motility16417406
GO:0090023ISS-positive regulation of neutrophil chemotaxis-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PRPF40ANCKAP1L10932116055720 Affinity Capture-MS
PRPF40ANCKAP1L12079216055720 Affinity Capture-MS
GAS7NCKAP1L11409416055720 Affinity Capture-MS
GAS7NCKAP1L10932116055720 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1926063
  • Data Attributes: HomoloGene calculated
No data
No data

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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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