COL11A1 (collagen type XI alpha 1 chain)

2009-08-01  

Identity

HGNC
LOCATION
1p21.1
LOCUSID
ALIAS
CO11A1,COLL6,DFNA37,STL2
FUSION GENES

Other Information

Locus ID:

NCBI: 1301
MIM: 120280
HGNC: 2186
Ensembl: ENSG00000060718

Variants:

dbSNP: 1301
ClinVar: 1301
TCGA: ENSG00000060718
COSMIC: COL11A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000060718ENST00000353414P12107
ENSG00000060718ENST00000358392P12107
ENSG00000060718ENST00000370096P12107
ENSG00000060718ENST00000427239C9JMN2
ENSG00000060718ENST00000447608H7C381
ENSG00000060718ENST00000461720A0A2R8YDU3
ENSG00000060718ENST00000512756P12107
ENSG00000060718ENST00000635193A0A0U1RRA7
ENSG00000060718ENST00000644186A0A2R8Y4I5
ENSG00000060718ENST00000645458A0A2R8Y4M5
ENSG00000060718ENST00000647280A0A2R8Y5N4

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
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
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
179993642007A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.45
179993642007A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation.45
191805182009Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.29
200832282010Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India.27
205131342010Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.26
248042152014Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.26
260871912015COL11A1 confers chemoresistance on ovarian cancer cells through the activation of Akt/c/EBPβ pathway and PDK1 stabilization.26
257618762015COL11A1/(pro)collagen 11A1 expression is a remarkable biomarker of human invasive carcinoma-associated stromal cells and carcinoma progression.24
255117412015Tumor matrix protein collagen XIα1 in cancer.22

Citation

Dessen P

COL11A1 (collagen type XI alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2009-08-01

Online version: http://atlasgeneticsoncology.org/gene/51004/col11a1