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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
DNA
TYPE functioning gene
STRUCTURE 511.10 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
regionally located located in the cri-du-chat critical region
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
30 splicing 11825 120.5 1074 - Beausoleil (2004)
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Hearing/Equilibriumear   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eyes, optic nerve
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