COL25A1 (collagen type XXV alpha 1 chain)

2003-05-01 Affiliation

Identity

HGNC

COL25A1

LOCATION

4q25

LOCUSID

84570

ALIAS

AMY,CFEOM5,CLAC,CLAC-P,CLACP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84570
MIM: 610004
HGNC: 18603
Ensembl: ENSG00000188517

Variants:

dbSNP: 84570
ClinVar: 84570
TCGA: ENSG00000188517
COSMIC: COL25A1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000188517	ENST00000399126	Q9BXS0
ENSG00000188517	ENST00000399127	A8MWQ5
ENSG00000188517	ENST00000399132	Q9BXS0
ENSG00000188517	ENST00000494183	E9PNV9
ENSG00000188517	ENST00000505591	D6R8Y2
ENSG00000188517	ENST00000512961	H0YAE1
ENSG00000188517	ENST00000610288	A0A087WZJ5
ENSG00000188517	ENST00000622134	A0A087X1E1
ENSG00000188517	ENST00000642955	A0A2R8Y760

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Extracellular matrix organization	REACTOME	R-HSA-1474244
Collagen formation	REACTOME	R-HSA-1474290
Collagen biosynthesis and modifying enzymes	REACTOME	R-HSA-1650814
Degradation of the extracellular matrix	REACTOME	R-HSA-1474228
Collagen degradation	REACTOME	R-HSA-1442490
Collagen chain trimerization	REACTOME	R-HSA-8948216

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
23018867	2012	Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.	20
15615705	2005	CLAC binds to amyloid beta peptides through the positively charged amino acid cluster within the collagenous domain 1 and inhibits formation of amyloid fibrils.	18
19548013	2010	COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.	13
15853808	2005	Collagenous Alzheimer amyloid plaque component assembles amyloid fibrils into protease resistant aggregates.	11
16300410	2005	CLAC binds to aggregated Abeta and Abeta fragments, and attenuates fibril elongation.	9
18501477	2010	Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease.	9
18501477	2010	Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease.	9
21688384	2011	Genome-wide association analysis of age at onset in schizophrenia in a European-American sample.	9
15522881	2005	Characterization of the Alzheimer's disease-associated CLAC protein and identification of an amyloid beta-peptide-binding site.	8

Citation

Dessen P

COL25A1 (collagen type XXV alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40124/col25a1