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FLASH GENE
Symbol HAX1 contributors: mct/pgu - updated : 21-02-2012
HGNC name HCLS1 associated protein X-1
HGNC id 16915
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SH3 domain containing protein
  • putative consensus binding motif
  • a BH-domain
  • C-terminal region, termed the Hax1 homology domain (HD1), essential for association with HTRA2, to facilitate its mitochondrial processing
  • HOMOLOGY
    interspecies ortholog to murine Hax1
    Homologene
    FAMILY
  • Bcl-2-family-related protein
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • a major regulator of myeloid homeostasis
  • functioning in promoting cell survival
  • playing a role in motility and/or adhesion of cells
  • required to suppress apoptosis in lymphocytes and neurons
  • functions in signal transduction and cytoskeletal control
  • regulator of contractility and calcium cycling in the heart
  • represents a regulatory mechanism in cardiac calcium cycling and its responses to sympathetic stimulation, implicating its importance in calcium homeostasis and cell survival
  • represents an additional regulator of sarcoplasmic reticulum calcium transport and contractility in the heart
  • negative regulator of integrin-mediated adhesion and chemotaxis through RHOA, and a novel regulator of neutrophil uropod detachment and chemotaxis through RHOA
  • CELLULAR PROCESS cell life, antiapoptosis
    cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PKD2
  • cortactin
  • interaction with the mitochondrial proteases PARL (presenilin-associated, rhomboid-like) and HTRA2, to suppress apoptosis in lymphocytes and neurons
  • associates with PARL on the inner mitochondrial membrane
  • interacting with caspase-9
  • interacting with XIAP, suppressing its polyubiquitination and thus inhibiting apoptosis
  • PELO interacts with HAX1, EIF3G and SRPX proteins and that this interaction occurs at the cytoskeleton
  • binding partner of SAV1 (SAV1 attenuates its protective role against apoptosis in MCF-7 breast cancer cells)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCNP3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in lesional psoriatic skin
    constitutional     --over  
    protects cardiac myocytes from apoptosis through caspase-9 inhibition
    constitutional     --over  
    reduced sarcoplasmic reticulum Ca-ATPase (SERCA2) pump activity in isolated cardiomyocytes and leading to depressed myocyte calcium kinetics and mechanics
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • murine Hax1(-/-) B cells show a significantly reduced expression of CXCR4, which might have an influence on the observed defects in B-cell development