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FLASH GENE
Symbol COL4A5 contributors: mct - updated : 05-12-2011
HGNC name collagen, type IV, alpha 5
HGNC id 2207
Corresponding disease
AMME Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
ATS1 Alport syndrome
ATSDL Alport syndrome with diffuse leiomyomatosis
Location Xq22      Physical location : 107.683.153 - 107.940.775
Synonym name
  • collagen of basement membrane, alpha-5 chain
  • IV chain precursor
  • Alport syndrome
  • Dragnet
  • Synonym symbol(s) ATS, ASLN, CA54, RP6-24A23.5, MGC42377, MGC167109
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text
  • organized in a head-to-head conformation with COL4A6 so that each gene pair shares a common promoter
  • STRUCTURE 257.62 kb     53 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - PLP1 - DXS147 - DXS17 - DXS87 - SERPINA7 - DXS1285 - DXS1230 - DXS1120 - COL4A5 - COL4A6 /DXS1105 - DXS1210 - DXS456 - DXS287 -qter
    Authors Srivastava (95), Kendall (97)
    Text see PLP1
    regionally located close to COL4A6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    51 splicing 6427 - 1685 - 1997 9244434
  • encoding the predominant isoform
  • differing from variants 2 and 3 by not using alternative exons 41A and 41B
  • having either two or one fewer Gly-X-Y repeats
  • a 26 aa signal peptide of 2.7 kda
  • a 1659 aa mature peptide of 158.3 kda
  • 53 splicing 6445 - 1691 - 1997 9244434
  • encoding a minor isoform
  • utilizing two alternative exons, 41A and 41B, located within the intron between exons 41 and 42, to encode two Gly-X-Y repeats
  • differing from variant 3 by using both alternative exons rather than only one
  • a 26 aa signal peptide of 2.7 da
  • a 1665 aa mature peptide of 158.9 kda
  • 52 splicing 6436 - 1688 restricted to epithelial cells 1997 9244434
    utilizing exon 41B
  • encoding a minor isoform
  • utilizing one alternative exon, 41B, located within the intron between exons 41 and 42, to encode a Gly-X-Y repeat
  • differing from variant 2 by not using alternative exon 41A
  • a 26 aa signal peptide of 2.7 kda
  • a 1662 aa mature peptide of 158.7 kda
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumearinnercochlea highly
    Reproductivefemale systemuterus  moderately
    Urinarybladder   moderately
     kidneynephronrenal capsuleglomerulus 
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Membranebasement   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    not specificfibroblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text the dermoepidermal junction during fetal skin development
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a Gly-X-Y repeat sequence interspersed by small interruptions
  • a non collagenous C terminus with twelve cysteine residues
  • conjugated GlycoP
    mono polymer homomer , heteromer , trimer
    HOMOLOGY
    interspecies homolog to rattus Col4a5 (91.2 pc)
    homolog to murine Col4a5 (91.3 pc)
    Homologene
    FAMILY
  • collagen superfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text located in the glomerular basement, extracellular matrix
    basic FUNCTION
  • playing a role in establishing and maintaining the composition structure and function of mature glomerular basement membrane
  • ROBO/SLIT and COL4A5 might cooperate in the same signaling pathway
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • homotrimerizing and heterotrimerizing with COL4A3, COL4A4 kidney restricted
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATS1 , AMME , ATSDL
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in thin basement membrane disease (FBH)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS