Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NCKAP1L contributors: mct - updated : 29-06-2011
HGNC name NCK-associated protein 1-like
HGNC id 4862
Location 12q13.1      Physical location : 54.891.494 - 54.936.898
Synonym name
  • hematopoietic protein 1
  • membrane-associated protein HEM-1
  • Synonym symbol(s) HEM1
    DNA
    TYPE functioning gene
    STRUCTURE 45.40 kb     31 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 3909 128.2 1127 - 1995 7643388
    31 - 3780 122.5 1077 - 1995 7643388
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticmature hematopoietic Homo sapiens
    cell lineage hematopoietic cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Nckap1l
    Homologene
    FAMILY HEM-1/HEM-2 family
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • may play an essential role in oogenesis
  • may also associate with myosin regulatory complexes (in addition to the WAVE actin-regulatory complex), and may have additional functions in inhibiting myosin-based contraction at the leading edge of migrating cells
  • versatile NCKAP1L-containing complexes coordinate diverse regulatory signals at the leading edge of polarized neutrophils, including but not confined to those involving WASF2-dependent actin polymerization
  • essential for hematopoietic cell development, function, and homeostasis by controlling a distinct pathway leading to cytoskeletal reorganization
  • may potentially stimulate waves of actin nucleation at the leading edge of cells, which may drive cell polarization, morphogenesis, and migration during chemotaxis
  • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS reproduction/sex
    PATHWAY
    metabolism
    signaling
    a component
  • component of the WAVE [WASP (Wiskott-Aldrich syndrome protein)-family verprolin homologous protein] complex, which signals downstream of activated RAC1 to stimulate F-actin polymerization in response to immuno-receptor signaling
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with WASF complex proteins including WASF2, ABI1, and CYFIP1/2
  • interacts with SRA1 and ABI(1 or 2) as part of the WAVE complex (which also includes WASF and C3orf10)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in defective F-actin polymerization and actin capping in lymphocytes and neutrophils caused by loss of the RAC1-controlled actin-regulatory WAVE protein complex
    tumoral     --over  
    associated with a poor prognosis in human chronic lymphocytic leukemias (CLL)
    tumoral     --low  
    in patient CLL cells resulted in a significant increase in fludarabine-mediated killing
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS