COL9A1

Available structures

Ortholog search: PDBe RCSB

List of PDB id codes
2UUR

Identifiers

Aliases

COL9A1, DJ149L1.1.2, EDM6, MED, STL4, collagen type IX alpha 1

External IDs

MGI: 88465 HomoloGene: 1393 GeneCards: COL9A1

Gene ontology
Molecular function	• extracellular matrix structural constituent conferring tensile strength • metal ion binding
Cellular component	• collagen type IX trimer • proteinaceous extracellular matrix • extracellular region • collagen trimer • endoplasmic reticulum lumen
Biological process	• animal organ morphogenesis • extracellular matrix organization
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


1297


12839

Ensembl


ENSG00000112280


ENSMUSG00000026147

UniProt


P20849


Q05722

RefSeq (mRNA)


NM_001851 NM_078485


NM_001290691 NM_007740

RefSeq (protein)


NP_001842 NP_511040


NP_031766.3 NP_001277620 NP_031766

Location (UCSC)

Chr 6: 70.22 – 70.3 Mb

Chr 1: 24.18 – 24.25 Mb

PubMed search

NM_001290691
NM_007740

NP_001842
NP_511040

NP_031766.3
NP_001277620
NP_031766

Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.

This gene encodes one of the three alpha chains of type IX collagen, a 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 may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.

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Wikipedia