COL19A1 (collagen type XIX alpha 1 chain)

2018-02-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
COL9A1L,D6S228E
FUSION GENES

Other Information

Locus ID:

NCBI: 1310
MIM: 120165
HGNC: 2196
Ensembl: ENSG00000082293

Variants:

dbSNP: 1310
ClinVar: 1310
TCGA: ENSG00000082293
COSMIC: COL19A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000082293ENST00000455415Q5JVU1
ENSG00000082293ENST00000478620A0A087WVJ7
ENSG00000082293ENST00000620364Q14993

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
188455312008Trimerization and triple helix stabilization of the collagen XIX NC2 domain.16
153835452004The fibril-associated collagen IX provides a novel mechanism for cell adhesion to cartilaginous matrix.10
274912752017Type XIX collagen: A new partner in the interactions between tumor cells and their microenvironment.7
293763202018Unique Conformation in a Natural Interruption Sequence of Type XIX Collagen Revealed by Its High-Resolution Crystal Structure.1

Citation

Dessen P

COL19A1 (collagen type XIX alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57362/col19a1-(collagen-type-xix-alpha-1-chain)