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Aliases for COL25A1 Gene

Aliases for COL25A1 Gene

  • Collagen, Type XXV, Alpha 1 2 3
  • Alzheimer Disease Amyloid-Associated Protein 3 4
  • CLAC-P 3 4
  • CLAC 3 6
  • AMY 3 4
  • Collagen-Like Alzheimer Amyloid Plaque Component 3
  • Collagenous Alzheimer Amyloid Plaque Component 3
  • Collagen Alpha-1(XXV) Chain 3
  • CFEOM5 3
  • CLACP 3

External Ids for COL25A1 Gene

Previous GeneCards Identifiers for COL25A1 Gene

  • GC04M110125
  • GC04M110203
  • GC04M110193
  • GC04M110092
  • GC04M109954
  • GC04M109731
  • GC04M105467

Summaries for COL25A1 Gene

Entrez Gene Summary for COL25A1 Gene

  • This gene encodes a brain-specific membrane associated collagen. A product of proteolytic processing of the encoded protein, CLAC (collagenous Alzheimer amyloid plaque component), binds to amyloid beta-peptides found in Alzheimer amyloid plaques but CLAC inhibits rather than facilitates amyloid fibril elongation (PMID: 16300410). A study of over-expression of this collagen in mice, however, found changes in pathology and behavior suggesting that the encoded protein may promote amyloid plaque formation (PMID: 19548013). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for COL25A1 Gene

COL25A1 (Collagen, Type XXV, Alpha 1) is a Protein Coding gene. Diseases associated with COL25A1 include fibrosis of extraocular muscles, congenital, 5 and antisocial personality disorder. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include heparin binding and beta-amyloid binding. An important paralog of this gene is COL21A1.

UniProtKB/Swiss-Prot for COL25A1 Gene

  • Inhibits fibrillization of beta amyloid peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.

Gene Wiki entry for COL25A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL25A1 Gene

Genomics for COL25A1 Gene

Regulatory Elements for COL25A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for COL25A1 Gene

Start:
108,810,721 bp from pter
End:
109,302,657 bp from pter
Size:
491,937 bases
Orientation:
Minus strand

Genomic View for COL25A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL25A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL25A1 Gene

Proteins for COL25A1 Gene

  • Protein details for COL25A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXS0-COPA1_HUMAN
    Recommended name:
    Collagen alpha-1(XXV) chain
    Protein Accession:
    Q9BXS0
    Secondary Accessions:
    • A8MPZ6
    • Q9BXR9

    Protein attributes for COL25A1 Gene

    Size:
    654 amino acids
    Molecular mass:
    64771 Da
    Quaternary structure:
    • Forms homodimers and homotrimers. Binds to the fibrillized forms of beta amyloid peptide 40 (beta-APP40) and beta amyloid peptide 42 (beta-APP42). Found associated with beta-APP42 more frequently than with beta-APP40.

    Alternative splice isoforms for COL25A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL25A1 Gene

Proteomics data for COL25A1 Gene at MOPED

Post-translational modifications for COL25A1 Gene

  • Glycosylated.
  • Hydroxylated on 11% of proline residues and 49% of lysine residues.
  • Undergoes proteolytic cleavage by furin protease to yield the soluble collagen-like Alzheimer amyloid plaque component.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for COL25A1 Gene

Antibody Products

  • R&D Systems Antibodies for COL25A1 (Collagen XXV alpha 1)

No data available for DME Specific Peptides for COL25A1 Gene

Domains for COL25A1 Gene

Gene Families for COL25A1 Gene

HGNC:

Protein Domains for COL25A1 Gene

Suggested Antigen Peptide Sequences for COL25A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXS0

UniProtKB/Swiss-Prot:

COPA1_HUMAN :
  • Q9BXS0
Domain:
  • Contains 7 collagen-like domains.
genes like me logo Genes that share domains with COL25A1: view

Function for COL25A1 Gene

Molecular function for COL25A1 Gene

UniProtKB/Swiss-Prot Function:
Inhibits fibrillization of beta amyloid peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin.

Gene Ontology (GO) - Molecular Function for COL25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IDA 11927537
GO:0008201 heparin binding IDA 15522881
genes like me logo Genes that share ontologies with COL25A1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL25A1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for COL25A1 Gene

Localization for COL25A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL25A1 Gene

Membrane; Single-pass type II membrane protein. Note=After proteolytic cleavage, CLAC is secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL25A1 Gene COMPARTMENTS Subcellular localization image for COL25A1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 4
cytosol 2
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for COL25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IDA 11927537
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with COL25A1: view

Pathways for COL25A1 Gene

genes like me logo Genes that share pathways with COL25A1: view

Gene Ontology (GO) - Biological Process for COL25A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with COL25A1: view

Transcripts for COL25A1 Gene

Unigene Clusters for COL25A1 Gene

Collagen, type XXV, alpha 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for COL25A1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for COL25A1 Gene

No ASD Table

Relevant External Links for COL25A1 Gene

GeneLoc Exon Structure for
COL25A1
ECgene alternative splicing isoforms for
COL25A1

Expression for COL25A1 Gene

mRNA expression in normal human tissues for COL25A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for COL25A1 Gene

This gene is overexpressed in Testis (11.2), Adipose - Subcutaneous (4.5), and Adipose - Visceral (Omentum) (4.4).

Protein differential expression in normal tissues for COL25A1 Gene

This gene is overexpressed in Plasma (45.9) and Platelet (23.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL25A1 Gene

SOURCE GeneReport for Unigene cluster for COL25A1 Gene Hs.658842

mRNA Expression by UniProt/SwissProt for COL25A1 Gene

Q9BXS0-COPA1_HUMAN
Tissue specificity: Expressed predominantly in brain. Deposited preferentially in primitive or neuritic amyloid plaques which are typical of Alzheimer disease.
genes like me logo Genes that share expressions with COL25A1: view

Expression partners for COL25A1 Gene

In Situ Assay Products

Orthologs for COL25A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for COL25A1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia COL25A1 35
  • 92.2 (n)
  • 94.8 (a)
COL25A1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL25A1 35
  • 92.66 (n)
  • 94.04 (a)
COL25A1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col25a1 35
  • 89.19 (n)
  • 92.51 (a)
Col25a1 16
Col25a1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia COL25A1 35
  • 99.39 (n)
  • 99.08 (a)
COL25A1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL25A1 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL25A1 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves COL25A1 35
  • 79.61 (n)
  • 85.1 (a)
COL25A1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL25A1 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col25a1.2 35
  • 75.75 (n)
  • 80.4 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC101882764 35
  • 68.37 (n)
  • 70.13 (a)
COL25A1 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea col-135 36
  • 33 (a)
OneToMany
Species with no ortholog for COL25A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for COL25A1 Gene

ENSEMBL:
Gene Tree for COL25A1 (if available)
TreeFam:
Gene Tree for COL25A1 (if available)

Paralogs for COL25A1 Gene

Paralogs for COL25A1 Gene

Selected SIMAP similar genes for COL25A1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with COL25A1: view

Variants for COL25A1 Gene

Sequence variations from dbSNP and Humsavar for COL25A1 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs711865 -- 109,032,616(+) ATTAT(A/G)CAATT intron-variant
rs711866 -- 109,035,835(+) TGCCA(A/C)CAGTT intron-variant
rs722716 -- 108,958,694(+) CTTAA(C/T)GATGG intron-variant
rs722717 -- 108,958,566(+) TTAGA(A/G)TCCCA intron-variant
rs746330 -- 108,978,416(+) CCTTA(A/G)TAAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL25A1 Gene

Variant ID Type Subtype PubMed ID
nsv879715 CNV Gain 21882294
nsv830034 CNV Loss 17160897
esv2657117 CNV Deletion 23128226
nsv830035 CNV Gain 17160897
nsv519227 CNV Loss 19592680
nsv461613 CNV Gain 19166990
esv7089 CNV Gain 19470904
esv259675 OTHER Complex 20981092
esv8308 CNV Gain 19470904
esv7132 CNV Gain 19470904
nsv293715 CNV Insertion 16902084
esv5466 CNV Gain 19470904
esv26012 CNV Loss 19812545
esv2664386 CNV Deletion 23128226
esv2728123 CNV Deletion 23290073
esv2436931 CNV Insertion 19546169
esv268533 CNV Insertion 20981092
esv273723 CNV Insertion 20981092
esv275332 CNV Loss 21479260
esv269886 CNV Insertion 20981092
esv2728124 CNV Deletion 23290073
esv2728125 CNV Deletion 23290073
nsv461614 CNV Loss 19166990
nsv4459 CNV Insertion 18451855
nsv515893 CNV Loss 19592680

Relevant External Links for COL25A1 Gene

HapMap Linkage Disequilibrium report
COL25A1
Human Gene Mutation Database (HGMD)
COL25A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL25A1 Gene

Disorders for COL25A1 Gene

Relevant External Links for COL25A1

Genetic Association Database (GAD)
COL25A1
Human Genome Epidemiology (HuGE) Navigator
COL25A1
genes like me logo Genes that share disorders with COL25A1: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for COL25A1 Gene

Publications for COL25A1 Gene

  1. CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV. (PMID: 11927537) Hashimoto T. … Iwatsubo T. (EMBO J. 2002) 2 3 4 23
  2. Molecular identification of AMY, an Alzheimer disease amyloid- associated protein. (PMID: 14656069) Soederberg L. … Naeslund J. (J. Neuropathol. Exp. Neurol. 2003) 3 4 23
  3. Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease. (PMID: 18501477) Forsell C. … Graff C. (Neurobiol. Aging 2010) 3 23 48
  4. Mostly separate distributions of CLAC- versus Abeta40- or thioflavin S-reactivities in senile plaques reveal two distinct subpopulations of beta-amyloid deposits. (PMID: 15215182) Kowa H. … Iwatsubo T. (Am. J. Pathol. 2004) 3 4
  5. Characterization of the Alzheimer's disease-associated CLAC protein and identification of an amyloid beta-peptide-binding site. (PMID: 15522881) Soederberg L. … Naeslund J. (J. Biol. Chem. 2005) 3 4

Products for COL25A1 Gene

Sources for COL25A1 Gene

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