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    COL25A1 collagen, type XXV, alpha 1 [ Homo sapiens ]

    Gene ID: 84570, updated on 5-Feb-2012

    Summary

    Official Symbol
    COL25A1provided by HGNC
    Official Full Name
    collagen, type XXV, alpha 1provided by HGNC
    Primary source
    HGNC:18603
    See related
    Ensembl:ENSG00000188517; HPRD:09886; MIM:610004; Vega:OTTHUMG00000150039
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AMY; CLAC; CLACP; CLAC-P
    Summary
    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]

    Genomic context

    Location :
    4q25
    Sequence :
    Chromosome: 4; NC_000004.11 (109734972..110223799, complement)
    See COL25A1 in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene alanine-glyoxylate aminotransferase 2-like 1 Neighboring gene regulator of chromosome condensation 2 pseudogene 8 Neighboring gene RNA binding motif protein, X-linked pseudogene 4 Neighboring gene lncRNA_BC009800 Neighboring gene SEC24 family, member B (S. cerevisiae)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9BXS0 P05067 APP    HPRD  PubMed  
    Q9BXS0 Q9BXS0 COL25A1    HPRD  PubMed  
    Q9BXS0 P10997 IAPP    HPRD  PubMed  
    Q9BXS0 P37840 SNCA    HPRD  PubMed  
    BioGRID:124143 BioGRID:106848 APP    BioGRID  PubMed Co-localization; Reconstituted Complex 

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-amyloid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    collagen alpha-1(XXV) chain
    Names
    collagen alpha-1(XXV) chain
    alzheimer disease amyloid-associated protein
    collagenous Alzheimer amyloid plaque component
    collagen-like Alzheimer amyloid plaque component

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001256074.1NP_001243003.1  collagen alpha-1(XXV) chain isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, and also differs in the 5' and 3' UTRs, compared to variant 1. The resulting isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC004051, AC097473, BC030649
      UniProtKB/TrEMBL
      A8MWQ5
      Conserved Domains (1) summary
      pfam01391
      Location:547606
      Blast Score: 94
      Collagen; Collagen triple helix repeat (20 copies)
    2. NM_032518.2NP_115907.2  collagen alpha-1(XXV) chain isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three 3' exons but includes an alternate 3' exon, resulting in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AF293341, BC030649
      Consensus CDS
      CCDS43259.1
      UniProtKB/Swiss-Prot
      Q9BXS0
      Related
      ENSP00000382077, OTTHUMP00000196082, ENST00000399126, OTTHUMT00000315939
      Conserved Domains (1) summary
      pfam01391
      Location:553603
      Blast Score: 94
      Collagen; Collagen triple helix repeat (20 copies)
    3. NM_198721.2NP_942014.1  collagen alpha-1(XXV) chain isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC097473, AF293340, AF293341, BC030649
      Consensus CDS
      CCDS43258.1
      UniProtKB/Swiss-Prot
      Q9BXS0
      Related
      ENSP00000382083, OTTHUMP00000196081, ENST00000399132, OTTHUMT00000315938
      Conserved Domains (1) summary
      pfam01391
      Location:553603
      Blast Score: 90
      Collagen; Collagen triple helix repeat (20 copies)

    RNA

    1. NR_045756.2 RNA Sequence

      Description
      Transcript Variant: This variant (4) contains an alternate 5' exon, lacks three exons and uses an alternate splice site in the central region, and uses alternate exon structure in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC004051, AC097473, BC036669

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      109734972..110223799, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      105467332..105956593, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC004051.1 (109167..132088) None
    genomic AC004701.1 None
    genomic AC073427.7 None
    genomic AC095066.4 None
    genomic AC097473.3 AAY40947.1
    genomic CH471057.1 EAX06238.1
      EAX06239.1
      EAX06240.1
    mRNA AF293340.1 AAK35008.1
    mRNA AF293341.1 AAK35009.1
    mRNA BC030649.1 None
    mRNA BC036669.2 AAH36669.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    Q4W5I4 GenPept UniProtKB/TrEMBL:Q4W5I4
    Q8NE08 GenPept UniProtKB/TrEMBL:Q8NE08
    Q9BXS0.2 GenPept UniProtKB/Swiss-Prot:Q9BXS0

      Supplemental Content

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