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FLASH GENE

Symbol

COL25A1

contributors: mct - updated : 31-01-2011

HGNC name	collagen, type XXV, alpha 1
HGNC id	18603

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032518 35 - 2681 NP_115907 63 642 - 2002 11927537 a different sequence for its 3' coding region and UTR compared to variant 1 NM_198721 38 - 2607 NP_942014 64 654 - 2002 11927537

EXPRESSION

Type

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       lowly Nervous brain         Homo sapiens   brain forebrain cerebral lobe occipital lobe highly Homo sapiens   brain forebrain cerebral lobe frontal lobe moderately Homo sapiens   brain limbic system hippocampus   highly Homo sapiens   nerve cranial nerve optic nerve     Homo sapiens Visual eye anterior segment conjunctiva   lowly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth ciliary muscle     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron 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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed neurology neurodegenerative alzheimer modulation of COL25A1 function may represent an alternative therapeutic intervention for Alzheimer disease neurology neurodegenerative alzheimer 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