COL9A1 (collagen type IX alpha 1 chain)

2021-06-01  

Identity

HGNC
LOCATION
6q13
LOCUSID
ALIAS
DJ149L1.1.2,EDM6,MED,STL4

Other Information

Locus ID:

NCBI: 1297
MIM: 120210
HGNC: 2217
Ensembl: ENSG00000112280

Variants:

dbSNP: 1297
ClinVar: 1297
TCGA: ENSG00000112280
COSMIC: COL9A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112280ENST00000320755P20849
ENSG00000112280ENST00000357250P20849
ENSG00000112280ENST00000370496P20849
ENSG00000112280ENST00000644493A0A2R8YG47

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
ECM proteoglycansREACTOMER-HSA-3000178
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Collagen degradationREACTOMER-HSA-1442490
Integrin cell surface interactionsREACTOMER-HSA-216083
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
115650642001A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.38
156941292005COMP mutations, chondrocyte function and cartilage matrix.35
169093832006A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene.32
123994682003Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9.31
191805182009Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.29
250487912014Association of reduced type IX collagen gene expression in human osteoarthritic chondrocytes with epigenetic silencing by DNA hypermethylation.26
178813542007Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.17
150476912004Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein.16

Citation

Dessen P

COL9A1 (collagen type IX alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58350/col9a1