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FLASH GENE
Symbol SEMA7A contributors: mct/npt/pgu - updated : 30-09-2015
HGNC name semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)
HGNC id 10741
Location 15q24.1      Physical location : 74.701.630 - 74.726.299
Synonym name
  • sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A
  • John-Milton-Hagen blood group AG
  • John-Milton-Hargen human blood group Ag
  • John Milton Hagen blood group H-Sema K1
  • CD108 antigen
  • Synonym symbol(s) Cdw108, SEMAL, K1, H-SEMA, H-SEMA-L, SEMAK1, CD108, MGC126692, MGC126696, JMH
    DNA
    TYPE functioning gene
    STRUCTURE 24.64 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 3351 - 652 - 2003 1287906
    14 - 3246 - 501 - 2003 1287906
    14 - 3393 - 666 - 2003 1287906
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver     Homo sapiens
     mouthtoothdentin  
    Lymphoid/Immunelymph node   highly
     thymus   highly
    Nervousbrain   highly
     spinal cord    
    Reproductivefemale systemplacenta  highly
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Epithelialbarrier liningretinal pigment epithelium (RPE)  
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumcardiac  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast
    Lymphoid/Immunelymphocyte
    Lymphoid/ImmuneT cell Homo sapiens
    not specificfibroblast
    Skin/Tegumentkeratinocyte
    cell lineage lymphoid and myeloid cells lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal signal peptide
  • the SEMA domain containing about 14 cysteine residues
  • an Ig-like motif
  • a glycophosphatidylinositol anchoring sequence at the C terminus
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Sema7a
    Homologene
    FAMILY
  • semaphorin family
  • CATEGORY adhesion , secretory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • putative counterpart of the viral semaphorin VB
  • playing an important role in modulating immune response
  • enhancing central and peripheral axon growth and required for proper axon tract formation during embryonic development (through MAPK-dependent signaling activation)
  • potent monocytes stimulator increasing granulocyte-macrophage colony-stimulating factor (GM-CSF) production from monocytes
  • might be a molecule involved in the terminal innervation of the dentin-pulp complex
  • possible involvement in bone cell differentiation
  • glycosylphosphatidylinositol-anchored semaphorin, promoting axon outgrowth through 1-integrin receptors and contributing to the formation of the lateral olfactory tract
  • having a critical role in T-cell-mediated inflammation through ITGA1-ITGB1 integrin on macrophages
  • has an essential function in the effector phase of cell-mediated immunity
  • stimulates cytoskeletal reorganization in melanocytes and monocytes, which translates into cell morphology changes that can result in spreading and migration of these types of cells
  • may be involved in regulating cell-sorting in the formation and regeneration of the periodontal attachment structure
  • plays a central role in a PI3K/PKB/AKT-dependent pathway that contributes to TGF-beta1-induced fibrosis and remodeling
  • induces significant melanocyte spreading and dendricity in human melanocytes
  • involved in axon guidance, stimulates melanocyte adhesion and dendricity through opposing actions of beta1-integrin and Plexin C1 receptors
  • activated mitogen-activated protein kinase and inactivated cofilin, and actin-binding protein involved in cell migration
  • stimulates cytoskeletal reorganization in melanocytes, resulting in adhesion and dendrite formation
  • SEMA7A on keratinocytes and ITGB1 on monocytes contribute to monocyte activation by keratinocytes within skin inflammation, such as psoriasis or wound
  • acts as a positive regulator for thalamocortical axon branching and/or pre-synaptic puncta formation
  • has important immunomodulatory functions in inflammatory responses, and it might play a key role in autoimmune diseases and other major disorders
  • presence of hypoxia-inducible SEMA7A on endothelial cells, having a potential to promote transendothelial leukocyte migration
  • facilitates increased transendothelial migration of neutrophils depending on the Plexin C1 receptor
  • expressed in hepatic stellate cells (HSCs) with respect to other cell types in the liver and plays a critical role in regulating fibrosis
  • is a potentially important modulator of eosinophil profibrotic functions in the airway remodeling of patients with chronic asthma (24333536)
  • is a regulator of thalamocortical and local circuit development
  • is critical in the development of lung inflammation and pulmonary edema in seawater aspiration-induced acute lung injury
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ligand for the plexin C1
  • beta1-integrins and Plexin C1 receptors are ligands for Semaphorin 7a, and signaling by these receptors has opposing effects on SEMA7A-induced dendrite formation
  • markedly reduces the production rates of megakaryocytes and platelets from CD34(+) progenitor cells
  • expression and induction of SEMA7A on endothelium through HIF1A during hypoxia 1)
  • cell & other
  • binds to melanocytes through beta1-integrins and the Plexin C1 receptor
  • REGULATION
    induced by hypoxia (is strongly induced by hypoxia challenge in a process regulated by the hypoxia-inducible factor (HIF1A))
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in fibroblasts treated with UV irradiation, a potent stimulus for melanocyte dendricity
    constitutional   deletion    
    in individuals with 15q24 microdeletion syndrome, characterized by developmental delay, autism, and sensory perceptual deficits
    Susceptibility to decreased bone mineral density and risk of vertebral fracture in post menopausal women
    Variant & Polymorphism other polymorphisms 15775C > G and SEMA7A+22331A > G were associated with low BMD of the femoral neck and lumbar spine
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyinflammatory 
    as a promising target for the development of strategies against inflammatory disorders
    ANIMAL & CELL MODELS