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FLASH GENE
Symbol SEMA5A contributors: mct/npt - updated : 22-01-2014
HGNC name sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
HGNC id 10736
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an N terminal signal peptide
  • an extracellular SEMA domain
  • seven type 1 thrombospondin repeats
    • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to rattus Sema5a (93.2 pc)
    homolog to murine Sema5a (93.7 pc)
    Homologene
    FAMILY
  • semaphorin family
    • CATEGORY adhesion , signaling growth factor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text single-pass type I membrane protein
    basic FUNCTION
  • involved in axonal guidance during neural development
  • able to elicit multiple functional responses through its receptor plexin-B3 (PLXNB3)
  • axon-guidance-pathway molecules are involved in connectivity and repair throughout life
  • SEMA5A and its receptor PLXNB3 play an important role in the invasion and metastasis of gastric carcinoma
  • promotes angiogenesis by increasing endothelial cell proliferation, migration, and decreasing apoptosis
  • SEMA5A and PLXNB3 impede motility but promote differentiation of human gliomas
  • SEMA5A, SEMA5B control selective retinal lamination and function
    • CELLULAR PROCESS cell life, differentiation
    PHYSIOLOGICAL PROCESS development
    text
  • neurogenesis
    • PATHWAY
    metabolism
    signaling
    cell-cell signaling
    a component
  • protein constituent of transmembrane
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to PLXNB3, a high-affinity receptor
    • specific for SEMA5A (activation by SEMA5A mediates functional responses in plexin-B3-expressing cells, either fibroblasts, epithelial and primary endothelial cells)
  • SEMA5A and SEMA5B inhibit retinal neurite outgrowth through PlexinA1 and PlexinA3 receptors
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDCS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in autism
    Susceptibility to Parkinson disease (PD)
    Variant & Polymorphism other AC haplotype was associated with a significant increased risk of PD and the AT haplotype showed an associated decreased risk of PD
    Candidate gene in the etiology of idiopathic autism
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    SEMA5A and PLXNB3 represent potential novel targets in counteracting glioma progression
    ANIMAL & CELL MODELS
  • Sema5A deficient mice display a defective branching of cranial vasculature, supporting its participation in blood vessel formation