COL25A1 (collagen type XXV alpha 1 chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84570
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type XXV alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL25A1
Synonyms (NCBI Gene) Gene synonyms aliases
AMY, CFEOM5, CLAC, CLAC-P, CLACP
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q25
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs780209390 C>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs886037741 C>A Pathogenic Coding sequence variant, intron variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
miRTarBase ID miRNA Experiments Reference
MIRT2447434 hsa-miR-4694-3p CLIP-seq
MIRT2447435 hsa-miR-548c-3p CLIP-seq
MIRT2447436 hsa-miR-711 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IBA
GO:0001540 Function Amyloid-beta binding IDA 11927537, 15215182, 15522881, 15615705
GO:0005576 Component Extracellular region IDA 11927537
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610004 18603 ENSG00000188517
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9BXS0
Protein name Collagen alpha-1(XXV) chain (Alzheimer disease amyloid-associated protein) (AMY) (CLAC-P) [Cleaved into: Collagen-like Alzheimer amyloid plaque component (CLAC)]
Protein function Inhibits fibrillization of amyloid-beta peptide during the elongation phase. Has also been shown to assemble amyloid fibrils into protease-resistant aggregates. Binds heparin. {ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705, ECO:000026
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 118 → 165 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 310 → 372 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 371 → 427 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 447 → 505 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 574 → 647 Collagen triple helix repeat (20 copies) Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain. Deposited preferentially in primitive or neuritic amyloid plaques which are typical of Alzheimer disease. {ECO:0000269|PubMed:11927537}.
Sequence 
MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQ
ARIAALESAKGAPSIHLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNC
PAGPPGKRGKRGRRGESGPPGQPGPQGPPGPKGDKGEQGDQGPRMVFPKINHGFLSADQQ
LIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPGEPGKPGEQGLMGPLG
PPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTG
EKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGT
KGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQK
GDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGL
KGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPP
GPMGPHGLPGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFP
GPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAPCQLGPDGLPMPGCWQK
Sequence length 654
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Fibrosis Of Extraocular Muscles fibrosis of extraocular muscles, congenital, 5 rs780209390, rs886037741 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ptosis ptosis, hereditary congenital, 1 N/A N/A GenCC
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 15522881, 15615705, 22297151
Antisocial Personality Disorder Associate 22297151
Arthrogryposis Associate 35077597
Carcinogenesis Associate 23018867
Congenital Cranial Dysinnervation Disorders Associate 25500261, 35077597
Mouth Diseases Associate 23018867
Plaque Amyloid Associate 15522881, 15615705
Substance Related Disorders Associate 22297151