COL11A1, collagen type XI alpha 1 chain

COL11A1, collagen type XI alpha 1 chain

• This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]

• Gene Synonyms (collagen alpha-1(XI) chain, collagen XI, alpha-1 polypeptide, collagen, type XI, alpha 1, deafness, autosomal dominant 37, CO11A1, COLL6, DFNA37, STL2,)
• NCBI Gene ID: 1301
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P12107
  UNIPROT ID#>>Q59HB5
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

collagen type XI alpha 1 chain interacts with:

• caseinolytic mitochondrial matrix peptidase proteolytic subunit
  C-terminal Src kinase
  F-box and leucine rich repeat protein 19
  malic enzyme 2
  phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase
  pyrroline-5-carboxylate reductase 1
  pyrroline-5-carboxylate reductase 2

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.