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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
    Physical map
    FLJ10178 Xq22.3 hypothetical protein FLJ10178 RNF128 Xq22.3 ring finger protein 128 FLJ20298 Xq22.3 FLJ20298 protein LOC92129 Xq22.3 hypothetical protein BC007652 CLDN2 Xq22.3-23 claudin 2 ZCWCC2 Xq22.3 zinc finger, CW-type with coiled-coil domain 2 FLJ11016 Xq22.1-24 hypothetical protein FLJ11016 FLJ20130 Xq22.3 hypothetical protein FLJ20130 MGC35261 Xq22.3 hypothetical protein MGC35261 MYCL2 Xq22.1-q22.3 v-myc myelocytomatosis viral oncogene homolog 2 (avian) LOC392516 X similar to Keratin 18 KIAA1817 Xq22 KIAA1817 protein PRPS1 Xq22-q24 phosphoribosyl pyrophosphate synthetase 1 DSIPI Xq22.3 delta sleep inducing peptide, immunoreactor LOC392517 X similar to dJ820B18.1 (similar to nuclear cap binding protein) MID2 Xq22 midline 2 NOD13 Xq22.3 NOD13 pseudogene TEX13B Xq23 testis expressed sequence 13B MGC44287 Xq22.3 hypothetical protein MGC44287 PSMD10 Xq22.3 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 AUTL2 Xq22.1-q22.3 AUT-like 2, cysteine endopeptidase (S. cerevisiae) COL4A6 Xq22.3 collagen, type IV, alpha 6 COL4A5 Xq22.3 collagen, type IV, alpha 5 (Alport syndrome) IRS4 Xq22.3 insulin receptor substrate 4 LOC392519 X similar to Glyceraldehyde 3-phosphate dehydrogenase (GAPDH) GUCY2F Xq22 guanylate cyclase 2F, retinal NXT2 Xq22.3 nuclear transport factor 2-like export factor 2 LOC347537 Xq23 similar to mitofusin 1 isoform 1 KCNE1L Xq22.3 potassium voltage-gated channel, Isk-related family, member 1-like FACL4 Xq22.3-q23 fatty-acid-Coenzyme A ligase, long-chain 4 LOC392520 X similar to ribosomal protein S5 FLJ22679 Xq22.3 hypothetical protein FLJ22679 AMMECR1 Xq22.3 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 GNG5ps Xq23 G protein gamma 5-like subunit KIAA1318 Xq23 KIAA1318 protein
    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