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FLASH GENE
Symbol COL4A1 contributors: shn/mct - updated : 06-11-2017
HGNC name collagen, type IV, alpha 1
HGNC id 2202
Corresponding disease
BSVD brain small vessel disease with or without ocular anomalies
COL4A1D COL4A1 deficiency
COSS COL4A1 stroke syndrome
HANAC hereditary angiopathy with nephropathy, aneurysms and muscle cramps
PRCF porencephaly familial
WLKWS9 Walker-Warburg syndrome 9
Location 13q34      Physical location : 110.801.310 - 110.959.496
Synonym name
  • arresten
  • COL4A1 NC1 domain
  • collagen of basement membrane, alpha-1 chain
    • Synonym symbol(s) RP11-472K17.2, HANAC, ICH, POREN1, arresten, BSVD, RATOR
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    text head to head with COL4A2
    STRUCTURE 158.20 kb     52 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure sharing promoter with COL4A2
    MAPPING cloned Y linked Y status confirmed
    Map cen - D13S895 - D13S1315 - COL4A1 - D13S261 - D13S285 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 6549 - 1669 - 1990 2186699
    25 - 2601 - 519 - 1990 2186699
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Hearing/Equilibriumearinnercochlea  
    Nervousnerve    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose   
    Membrane    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text in the dermoepidermal junction during fetal skin development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • meshwork forming collagen with a GLy-X-Y repeat sequence interspersed by small interruptions
  • C-terminal tandem repeat domain, and a globular noncollagenous (NC1) domain responsible for initiating heterotrimer formation within the ER
    • mono polymer heteromer , trimer
    isoforms Precursor
    HOMOLOGY
    interspecies ortholog to Col4a1, Mus musculus
    ortholog to Col4a1, Rattus norvegicus
    ortholog to COL4A1, Pan troglodytes
    Homologene
    FAMILY
  • type IV collagen family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • extracellular matrix
  • major component of almost all basement membranes
  • heterotrimers composed of one COL4A2 and two COL4A1 peptides are assembled and modified within the endoplasmic reticulum (ER) before trafficking to the Golgi where they are packaged into vesicles for secretion into the vascular basement membranes
    • basic FUNCTION
  • formation of basement membranes
  • acts as an antiangiogenic factor on vascular endothelial growth factor-mediated proangiogenic activity
  • important role of COL4A1, COL4A2 in the physiological and optical properties of the lens
  • role for COL4A1 in glomerular filtration
  • in addition to the role in the formation of epithelium and vasculature, COL4A1, COL4A2 appears to be key for alveolar myofibroblast development by inducing their proliferation, differentiation and migration throughout the developing septum
  • role for COL4A1 in peripheral myelination
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • COL4A1 and COL4A2 form heterotrimers and are abundant components of basement membranes, including those of the cerebral vasculature
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PRCF , HANAC , COSS , WLKWS9 , BSVD , COL4A1D
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in cerebral hemorrhage and porencephaly
    constitutional germinal mutation      
    in anophthalmia/microphthalmia (A/M) (PMID;
    constitutional germinal mutation      
    in non-syndromic, autosomal dominant congenital cataract
    Susceptibility to perinatal cerebral haemorrhage and porencephaly
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorial  
    endothelial-specific inhibitory actions of recombinant alpha1(IV)NC1 (COL4A1) may be of benefit in the treatment of a variety of eye diseases with a neovascular component
    cardiovascular  
    a mechanism-based therapy promoting protein folding might prevent intracerebral hemorrhage (ICH) in patients with COL4A1 and COL4A2 mutations
    ANIMAL & CELL MODELS
  • Col4a1 mutant mouse develops porencephaly secondary to focal disruptions of vascular basement membranes and dies with cerebral hemorrhage within a day of birth (Gould et al, 2005)
  • Col4a1 mutant mice develop progressive skeletal myopathy
  • HANAC mutant mice presented with a muscular functional impairment and increased serum creatine kinase levels reflecting altered muscle fiber sarcolemma
  • heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS