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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivesalivary gland   highly
Endocrineneuroendocrinepituitary  highly
 pancreas    
Nervousbrain    
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentkeratinocyte
Skin/Tegumentmelanocyte
cell lineage
cell lines meningioma and synovial sarcoma cell lines
fluid/secretion
at STAGE
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