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FLASH GENE
Symbol COL25A1 contributors: mct - updated : 31-01-2011
HGNC name collagen, type XXV, alpha 1
HGNC id 18603
Corresponding disease
DURS3 Duane retraction syndrome-3
Location 4q25      Physical location : 109.734.971 - 110.223.799
Synonym name
  • collagen-like Alzheimer amyloid plaque component
  • Alzheimer disease amyloid-associated protein
  • Synonym symbol(s) CLAC, CLACP
    DNA
    TYPE functioning gene
    STRUCTURE 488.83 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SCYE1 4q24 small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating) DKK2 4q25 dickkopf homolog 2 (Xenopus laevis) LOC391680 4 similar to ras-related C3 botulinum toxin substrate 1 isoform Rac1; rho family, small GTP binding protein Rac1 PAPSS1 4q24 3'-phosphoadenosine 5'-phosphosulfate synthase 1 MGC26963 4q25 hypothetical protein MGC26963 LOC113612 HADHSC 4q22-q26 L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain LEF1 4q23-q25 lymphoid enhancer-binding factor 1 LOC389215 4 LOC389215 LOC339979 4q25 similar to ligand-gated ion channel subunit LOC391681 4 similar to rexo70 FLJ37673 4q25 hypothetical protein FLJ37673 RPL34 4q24 ribosomal protein L34 DC2 4q25 DC2 protein AGXT2L1 4q25 alanine-glyoxylate aminotransferase 2-like 1 LOC391682 4 similar to RCC1-like COL25A1 4q25 collagen, type XXV, alpha 1 LOC389216 4 similar to heterogeneous nuclear ribonucleoprotein G - human SEC24B 4q24 SEC24 related gene family, member B (S. cerevisiae) LOC389217 4 similar to template acyivating factor-I alpha FLJ20647 4q25 hypothetical protein FLJ20647 CASP6 4q25 caspase 6, apoptosis-related cysteine protease PLA2G12 4q25 phospholipase A2, group XII IF 4q25 I factor (complement) NOLA1 4q28-q31.1 nucleolar protein family A, member 1 (H/ACA small nucleolar RNPs) RRH 4q retinal pigment epithelium-derived rhodopsin homolog FLJ44691 4q25 FLJ44691 protein LOC391683 4 similar to keratin 19; keratin, type I cytoskeletal 19; keratin, type I, 40-kd; cytokeratin 19; 40-kDa keratin intermediate filament precursor gene EGF 4q25 epidermal growth factor (beta-urogastrone) ELOVL6 4q25 ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC132706 4q25 similar to heat shock factor binding protein 1 LOC132707 4q25 similar to Ac-like transposable element; putative Ac-like transposon; zinc finger, BED domain containing 1 LOC391684 4 similar to ribosomal protein L7-like 1 LOC391685 4 similar to KIAA2033 protein ENPEP 4q25 glutamyl aminopeptidase (aminopeptidase A) PITX2 4q25-q27 paired-like homeodomain transcription factor 2 LOC391686 4 similar to lysophospholipase I; lysophospholipase 1; lysophospholipid-specific lysophospholipase; acyl-protein thioesterase-1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    35 - 2681 63 642 - 2002 11927537
    a different sequence for its 3' coding region and UTR compared to variant 1
    38 - 2607 64 654 - 2002 11927537
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   lowly
    Nervousbrain     Homo sapiens
     brainforebraincerebral lobeoccipital lobehighly Homo sapiens
     brainforebraincerebral lobefrontal lobemoderately Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
     nervecranial nerveoptic nerve   Homo sapiens
    Visualeyeanterior segmentconjunctiva lowly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmoothciliary muscle   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a TSP N-terminal domain
  • three collagen-like Gly-X-Y repeat motifs flanked by four non-collagenous domains
  • an 8-AA-long sequence located in non-collagenous domain 2 was found to be crucial for the interaction with APP
  • conjugated GlycoP
    mono polymer dimer , trimer
    isoforms Precursor precursor as CLAC-P/collagen type XXV.
    HOMOLOGY
    interspecies homolog to murine Col25a1
    Homologene
    FAMILY
  • collagen superfamily
  • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    text type II transmembrane protein
    basic FUNCTION
  • regulation of transcription DNA dependent
  • assembles APP fibrils into fibril bundles that have an increased resistance to proteases
  • may be involved at an intermediate stage in the pathogenesis by binding to APP fibrils, including fibrils formed from peptides with truncated N- or C-termini, and thereby slows their growth
  • anti-amyloidogenic roles in the pathophysiology of Alzheimer disease
  • promotes Alzheimer disease-like pathology
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • extracellular domain is secreted after cleavage by furin
  • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • amyloid beta peptide binding at the cell surface
  • binds to APP with high affinity (the central region of APP is necessary and sufficient for this interaction, and the aggregation state of APP as well as the presence of negatively charged residues is important)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DURS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    Alzheimer disease
    Susceptibility to Alzheimer disease
    Variant & Polymorphism other genetic evidence of association between COL25A1 and risk for Alzheimer disease
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    modulation of COL25A1 function may represent an alternative therapeutic intervention for Alzheimer disease
    neurologyneurodegenerativealzheimer
    useful for future therapeutic interventions aimed at finding compounds that modulate the binding of COL25A1 to APP deposits
    ANIMAL & CELL MODELS
    Col25a1 knockout mice exhibited loss of motor axon elongation and branching in the muscles, which resulted in axon degeneration