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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
Corresponding disease
SCNP3 severe congenital neutropenia 3
Location 1q21.3      Physical location : 154.245.038 - 154.248.349
Synonym name
  • interleukin 1 alpha N terminal binding protein
  • HS1 binding protein
  • HCLS1 (and PKD2) associated protein
  • Synonym symbol(s) HS1BP1, HAX-1, HCLSBP1, SCN3, FLJ17042, FLJ18492, FLJ93803, FLJ17042
    DNA
    TYPE functioning gene
    STRUCTURE 3.31 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    ILF2 1q21.1 interleukin enhancer binding factor 2, 45kDa NPR1 1q21.1 natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) FLJ21919 1q22 hypothetical protein FLJ21919 SLC27A3 1q21.1 solute carrier family 27 (fatty acid transporter), member 3 LOC343052 1q22 similar to putative neuronal cell adhesion molecule P66beta 1q22 transcription repressor p66 beta component of the MeCP1 complex KIAA0476 1p36.13-q31.3 transcription repressor p66 beta component of the MeCP1 complex LOC200186 1q22 hypothetical protein LOC200186 SLC39A1 1q21 solute carrier family 39 (zinc transporter), member 1 CREB3L4 1q21.2 cAMP responsive element binding protein 3-like 4 JTB 1q21 jumping translocation breakpoint RAB13 12q13 RAB13, member RAS oncogene family RPS27 1q21 ribosomal protein S27 (metallopanstimulin 1) LOC91181 1q22 nuclear pore membrane glycoprotein 210-like TPM3 1q22-q23 tropomyosin 3 LOC388701 1 LOC388701 NICE-3 1q21.2 NICE-3 protein NICE-4 1q22 NICE-4 protein HAX1 1q21 NICE-4 protein AQP10 1q21.2 aquaporin 10 ATP8B2 1q21.2 ATPase, Class I, type 8B, member 2 MRPS33P1 1q21.3 mitochondrial ribosomal protein S33 pseudogene 1 LOC388702 1 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) IL6R 1q21 interleukin 6 receptor LOC388703 1 similar to hypothetical protein 9430022A14 DKFZp434M202 1q22 hypothetical protein DKFZp434M202 UBE2Q 1q22 ubiquitin-conjugating enzyme E2Q (putative) CHRNB2 1q21.3 cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal) ADAR 1q21.1-q21.2 adenosine deaminase, RNA-specific KCNN3 1q21.3 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 1196 35 279 - 2008 18611981
  • isoform a
  • 7 splicing 1052 26 231 - 2008 18611981
  • using an alternate in-frame splice site compared to variant 1
  • isoform b having the same N- and C-termini
  • 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