Species

Homo sapiens

Symbol

COL9A1

Name

collagen type IX alpha 1 chain

Synonyms

alpha-1(IX) collagen chain
cartilage-specific short collagen

Biotype

protein coding gene

Automated Description

Enables carbohydrate binding activity and protein homodimerization activity. Predicted to be involved in extracellular matrix organization. Predicted to act upstream of or within chondrocyte proliferation; growth plate cartilage development; and tissue homeostasis. Located in collagen-containing extracellular matrix. Part of collagen type IX trimer. Implicated in Stickler syndrome; multiple epiphyseal dysplasia 6; and osteochondrodysplasia.

RGD Description

This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR24023

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

Phenotype Term	Annotation details	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Sequence Feature Viewer

Genome location

Chr6:70215061...70303084 - (88.02 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

Loading...

Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

COL9A1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Genetic Interactions

COL9A1 role	COL9A1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page