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FLASH GENE
Symbol ITGA7 contributors: mct - updated : 21-03-2020
HGNC name integrin, alpha 7
HGNC id 6143
Corresponding disease
ITGA7D congenital myopathy with delayed motor milestones, due to ITGA7 deficiency
Location 12q13.2      Physical location : 56.078.355 - 56.106.089
Synonym symbol(s) FLJ25220
DNA
TYPE functioning gene
STRUCTURE 31.47 kb     25 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
RNA
TRANSCRIPTS type messenger
text with two alternatively spliced isoforms (cardiac and skeletal)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
26 - 3934 - 1028 - 2019 31325216
25 - 3675 - 1044 - 2019 31325216
24 - 3954 - 689 - 2019 31325216
25 - 4108 - 1131 - 2019 31325216
25 - 4138 - 1141 - 2019 31325216
24 - 4126 - 1138 - 2019 31325216
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiens
Skin/Tegumentskin   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumcardiac   Homo sapiens
Muscularstriatumskeletal   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • C-terminus of ITGA7 interacts with high temperature requirement A2 (HTRA2), a serine protease with a critical role in apoptosis
  • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY integrin family
    CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • sarcolemmal
  • type I membrane protein
  • colocalized with FHL2 and FHL3 at the periphery of Z-discs
  • basic FUNCTION
  • cell surface adhesion receptor mediating cell-adhesion to extra cellular matrix or to other cells, through hetero dimerization and connecting to the cytoskeleton and various signaling molecules within cells
  • critical roles of ITGA7 and UTRN in maintaining myotendinous junction structure and enabling force transmission during muscle contraction
  • is an epigenetically regulated tumour suppressor gene
  • plays a key functional role in growth and invasiveness of glioblastoma stem-like cells (GSCs)
  • playing a role in mechanical stabilization of muscle cells
  • promotes cell proliferation, stemness but suppresses cell apoptosis in non-small-cell lung cancer (NSCLC)
  • role of ITGA7 and extracellular matrix interactions in Acute myeloid leukemia (AML) cell proliferation and extramedullary disease development
  • CELLULAR PROCESS cell communication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • critical signaling mechanism of ITGA7, through the TIMP3/NFKB1/CCND1 pathway
  • a component dimerizing with ITGB1 in laminin receptor
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • specific cellular receptor for the basement membrane protein laminin-1
  • ITGA7 increases the protease activity of HTRA2, and deletion of the HTRA2 interaction domain abrogates the cell death activity of ITGA7, whereas down-regulation of HTRA2 dramatically reduced cell death mediated by ITGA7
  • ITGA7 binds to tissue inhibitor of metalloproteinase 3 (TIMP3) in prostate cancer cells
  • S100P interacts with ITGA7 and increases cancer cell migration and invasion in lung cancer
  • FOXC1 promotes colorectal cancer metastasis through transactivating ITGA7 and FGFR4 expression
  • cell & other
    REGULATION
    Other developmentally regulated during the formation of skeletal muscle cell
    ASSOCIATED DISORDERS
    corresponding disease(s) ITGA7D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in Acute myeloid leukemia (AML) with granulocytic sarcoma (GS)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • might serve as a potential biomarker for predicting increased AML risk and worse prognosis in AML patients
  • is a glioblastoma biomarker
  • prognostic factor in human Malignant pleural mesothelioma (MPM)
  • Therapy target
    SystemTypeDisorderPubmed
    cancerbrainglioma/neuroblstoma
    is a glioblastoma candidate therapeutic target (PMID: 28602620)
    cancerdigestiveoesophagus
    could be a potential therapeutic target in oesophageal squamous cell carcinoma treatment
    ANIMAL & CELL MODELS
  • alpha7 integrin null mices embryos exhibit vascular smooth muscle cell defects that result in cerebral vascular hemorrhaging