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COL25A1 - collagen type XXV alpha 1 chain Gene

Also Known as AMY; CLAC; CLACP; CFEOM5; CLAC-P

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84570

About COL25A1

Cytogenetic location: 4q25 Genomic coordinates (GRCh38): 4:108,808,725-109,302,658 (from NCBI)

This gene has 8 transcripts (splice variants), 137 orthologues, 37 paralogues and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.9), fat (RPKM 1.8) and 13 other tissues.

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]

COL25A1 Products (3)

mRNA	Protein	Name
NM_001256074.3	NP_001243003.1	collagen alpha-1(XXV) chain isoform 3
NM_032518.4	NP_115907.2	collagen alpha-1(XXV) chain isoform 2
NM_198721.4	NP_942014.1	collagen alpha-1(XXV) chain isoform 1

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables amyloid-beta binding	IDA IDA: Inferred from direct assay	11927537	GOA
enables heparin binding	IDA IDA: Inferred from direct assay	15522881	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	15522881	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular region	IDA IDA: Inferred from direct assay	11927537	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	11927537	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	11927537	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COL25A1 Protein Structure

Collagen

0
200
400
600
654 a.a.

Protein Preferred Names	Protein Names
collagen alpha-1(XXV) chain	alzheimer disease amyloid-associated protein

Related Diseases

Diseases	Alias
Fibrosis Of Extraocular Muscles, Congenital, 5	CFEOM5 Congenital Fibrosis Of The Extraocular Muscles 5 Fibrosis Of Extraocular Muscles, Congenital, Type 5
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Antisocial Personality Disorder	Dissocial Personality Disorder Asocial Personality Psychopath.Personality Psychopathic Personality Psychopathic Personality Disorder Sociopathic Personality
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Dystonia 27	DYT27 Primary Dystonia, Dyt27 Type Dystonia, Type 27
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles, Congenital, 3b CFEOM1 Blepharoptosis With Absent Eye Movements Congenital Fibrosis Of The Extraocular Muscles 1 Congenital Fibrosis Of Extraocular Muscles Type 1 Fibrosis Ophthalmoplegia, Congenital Feom1 Locus Congenital Ophthalmoplegia Feom1 CFEOM3B Fibrosis, Extraocular Muscles, Congenital, Type 1 Congenital Fibrosis Of The Extraocular Muscles
Tukel Syndrome	Cfeom-U Congenital Fibrosis Of The Extraocular Muscles 4 Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies Fibrosis Of Extraocular Muscles, Congenital, 4 Cfeom4 Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies Congenital Fibrosis Of The Extraocular Muscles
Deafness, X-Linked 6	DFNX6 X-Linked Deafness 6 Deafness, X-Linked, 6 Deafness, X-Linked, Type 6
Personality Disorder	Personality Disorders Character Disorder Personality Specific Personality Disorders Enduring Personality Change After Psychiatric Illness
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Myasthenic Syndrome, Congenital, 19	Congenital Myasthenic Syndrome 19 CMS19 Myasthenic Syndrome, Congenital, Type 19
Hypertropia
Duane Retraction Syndrome	Stilling-Turk-Duane Syndrome Duane'S Syndrome Duane Syndrome Isolated Duane Retraction Syndrome Co-Contractive Retraction Syndrome Duane Anomaly, Isolated Ocular Retraction Syndrome Drs Durs
Alcohol Dependence	Alcoholism Alcohol Dependence, Susceptibility To Alcohol Dependence, Protection Against Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against Alcoholism, Susceptibility To Alcoholic Intoxication, Chronic Pharyngeal Neoplasms Chronic Alcoholism Dipsomania Alcohol Addiction Ethanol Dependence Chronic Ethanolism Chronic Alcoholic Disease Nos Alcoholic Disease Nos Alcoholic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02977	COL25A1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COL25A1	VGNC	VGNC:57403
Mus musculus	COL25A1	MGD	MGI:1924268
Bos taurus	COL25A1	VGNC	VGNC:53695
Rattus norvegicus	COL25A1	RGD	RGD:1590105
Macaca mulatta	COL25A1	VGNC	VGNC:81374
Others	COL25A1	NCBI