Collagen type XI alpha 1 chain (Q21131338)

Laminin G domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

Fibrillar collagen, C-terminal domain, protein family

1 reference

based on heuristic

inferred from protein domain or family

collagen triple helix repeat, protein family

1 reference

based on heuristic

inferred from protein domain or family

1 reference

13 November 2019

1 reference

13 November 2019

protein-macromolecule adaptor activity

1 reference

8 April 2019

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

extracellular matrix binding

1 reference

8 April 2019

Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

heparan sulfate binding

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

extracellular matrix structural constituent

3 references

8 April 2019

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

extracellular matrix structural constituent conferring tensile strength

IBA

extracellular matrix structural constituent conferring tensile strength

HDA

4 references

1 January 2018

Comprehensive proteomic characterization of stem cell-derived extracellular matrices.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 January 2018

Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 January 2018

Comprehensive proteomic characterization of stem cell-derived extracellular matrices.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 January 2018

Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

endoplasmic reticulum lumen

cell component

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

TAS

collagen type XI trimer

2 references

21 June 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=P12107&geneProductId=UniProtKB:P12107

21 June 2018

Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue

http://www.ebi.ac.uk/QuickGO/annotations?protein=P12107&geneProductId=UniProtKB:P12107

1 reference

21 June 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=P12107&geneProductId=UniProtKB:P12107

collagen-containing extracellular matrix

1 reference

21 June 2018

http://www.ebi.ac.uk/QuickGO/annotations?protein=P12107&geneProductId=UniProtKB:P12107

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

collagen type XI trimer

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

collagen-containing extracellular matrix

IBA

3 references

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

Comprehensive proteomic characterization of stem cell-derived extracellular matrices.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

8 April 2019

Characterization of the Extracellular Matrix of Normal and Diseased Tissues Using Proteomics.

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

embryonic skeletal system morphogenesis

HDA

biological process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

endodermal cell differentiation

1 reference

8 April 2019

Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

skeletal system morphogenesis

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

chondrocyte development

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

sensory perception of sound

1 reference

8 April 2019

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

detection of mechanical stimulus involved in sensory perception of sound

IMP

1 reference

8 April 2019

Audiovestibular phenotype associated with a COL11A1 mutation in Marshall syndrome

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

ventricular cardiac muscle tissue morphogenesis

IMP

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

cartilage development

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

proteoglycan metabolic process

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

inner ear morphogenesis

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

cartilage condensation

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:P12107

extracellular matrix organization

1 reference

21 June 2018

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

http://www.ebi.ac.uk/QuickGO/annotations?protein=P12107&geneProductId=UniProtKB:P12107

collagen fibril organization

NAS

extracellular matrix organization

NAS

physically interacts with

IBA

NAS

1 reference

Open Targets Platform

retrieved

14 August 2023

https://platform.opentargets.org/drug/CHEMBL2095222

has part(s)

Fibrillar collagen, C-terminal

1 reference

Laminin G domain

1 reference

Collagen triple helix repeat

1 reference