• Gene id: 84570

Gene Summary

• Gene Symbol: COL25A1   Gene   UCSC   Ensembl
• Aliases: AMY, CFEOM5, CLAC, CLAC-P, CLACP
• Gene name: collagen type XXV alpha 1 chain
• Alternate names: collagen alpha-1(XXV) chain, alzheimer disease amyloid-associated protein, collagen-like Alzheimer amyloid plaque component, collagenous Alzheimer amyloid plaque component,
• Gene location: 4q25 (109302736: 108808724)     Exons: 48     NC_000004.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q9BXS0  
  • Name: Collagen alpha 1(XXV) chain (Alzheimer disease amyloid associated protein) (AMY) (CLAC P) [Cleaved into: Collagen like Alzheimer amyloid plaque component (CLAC)]
  • Length: 654  
  • Mass: 64771
  • Tissue specificity: Expressed predominantly in brain. Deposited preferentially in primitive or neuritic amyloid plaques which are typical of Alzheimer disease. {ECO
• Sequence:

  MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAKGAPSI
  HLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPPGQPGPQGPPG
  PKGDKGEQGDQGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPGDTGKDGPRGMPGVPG
  EPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGEPGEQGEKGDAGENGPKGDTG
  EKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQGEPGLPGLPGTKGERGEAGPPGRGER
  GEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQKGDQGATEIIDYNGNLHEALQRITTLTVTGP
  PGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDPGMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGP
  SIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGPHGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFP
  GPRGEKGDLGEKGEKGFRGVKGEKGEPGQPGLDGLDAPCQLGPDGLPMPGCWQK

• Structural information:
  • Protein Domains: (121..16-)
    (/note="Collagen-like-1)
    (/evidence="ECO:0000255-)
    (192..24-)
    (/note="Collagen-like-2)
    (/evidence="ECO:0000255-)
    (249..30-)
    (/note="Collagen-like-3)
    (/evidence="ECO:0000255-)
    (311..37-)
    (/note="Collagen-like-4)
    (/evi-)
  • Interpro: IPR008160  
  • STRING: ENSP00000382083
• Other Databases: GeneCards:  COL25A1  Malacards:  COL25A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005581	collagen trimer	IEA	cellular component
GO:0008201	heparin binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0060385	axonogenesis involved in innervation	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0008201	heparin binding	IDA	molecular function
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0001540	amyloid-beta binding	IDA	molecular function
GO:0016021	integral component of membrane	NAS	cellular component

Diseases

Associated diseases	References
Congenital fibrosis of the extraocular muscles	KEGG:H00838
Congenital fibrosis of the extraocular muscles	KEGG:H00838
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq