InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL9A1

Summary

InnateDB Protein

IDBP-92004.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL9A1

Protein Name

collagen, type IX, alpha 1

Synonyms

DJ149L1.1.2; EDM6; MED; STL4;

Species

Homo sapiens

Ensembl Protein

ENSP00000349790

InnateDB Gene

IDBG-92000 (COL9A1)

Protein Structure

UniProt Annotation

Function

Structural component of hyaline cartilage and vitreous of the eye.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000250}.

Disease Associations

Multiple epiphyseal dysplasia 6 (EDM6) [MIM:614135]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. {ECO:0000269PubMed:11565064}. Note=The disease is caused by mutations affecting the gene represented in this entry.Stickler syndrome 4 (STL4) [MIM:614134]: An autosomal recessive form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269PubMed:16909383}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0030020	extracellular matrix structural constituent conferring tensile strength
GO:0046872	metal ion binding

Biological Process

GO:0001894	tissue homeostasis
GO:0003417	growth plate cartilage development
GO:0007411	axon guidance
GO:0009887	organ morphogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0051216	cartilage development