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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
Corresponding disease
CDCS Cri-du-Chat syndrome
Location 5p15.31      Physical location : 9.035.137 - 9.546.233
Synonym name
  • semaphorin-F
  • human Cri-du-chat region mRNA, clone CSA1
  • semaphorin 5A
  • thrombospondin-related, in the CDCCR region
  • Synonym symbol(s) SEMAF, semF, FLJ12815, THBSR
    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
    Physical map
    MGC5309 5p15.32 hypothetical protein MGC5309 LOC134111 5p15.32 similar to 3110006E14Rik protein LOC389270 5 LOC389270 FLJ20303 5p15.32 hypothetical protein FLJ20303 SRD5A1 5p15.31 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) POLS 5p15 polymerase (DNA directed) sigma LOC391735 5 similar to hypothetical protein FLJ36144 ADCY2 5p15.33-p15.31 adenylate cyclase 2 (brain) MGC5297 5p15.3-p15.2 hypothetical protein MGC5297 MTRR 5p15.31 5-methyltetrahydrofolate-homocysteine methyltransferase reductase SEMA5A 5p15-pter sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A TAS2R1 5p15.2 taste receptor, type 2, member 1 LOC389271 5 LOC389271 LOC134145 5p15.31 hypothetical protein LOC134145 CCT5 5p15.2 chaperonin containing TCP1, subunit 5 (epsilon) LOC134147 5p15.31 hypothetical protein BC001573 TEB4 5p15.2 similar to S. cerevisiae SSM4 ASP 5p15.31 AKAP-associated sperm protein LOC389272 5 LOC389272 LOC389273 5 hypothetical gene supported by AK130861 LOC391736 5 similar to S-antigen precursor - malaria parasite (Plasmodium falciparum) (strain V1/Vietnam) LOC345711 5p15.31 similar to RIKEN cDNA 0610012A05 LOC391737 5 similar to Intersectin 1 (SH3 domain-containing protein 1A) (SH3P17) DAP 5p12.2 death-associated protein CTNND2 5p15.3 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
    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