Collagen, type XI, alpha 1

Collagen alpha-1(XI) chain is a protein that in humans is encoded by the COL11A1 gene.[5][6]

COL11A1
Identifiers
AliasesCOL11A1, collagen, type XI, alpha 1, CO11A1, COLL6, STL2, collagen type XI alpha 1, collagen type XI alpha 1 chain, DFNA37
External IDsOMIM: 120280 MGI: 88446 HomoloGene: 56389 GeneCards: COL11A1
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p21.1Start102,876,467 bp[1]
End103,108,872 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1301

12814

Ensembl

ENSG00000060718

ENSMUSG00000027966

UniProt

P12107

Q61245

RefSeq (mRNA)

NM_001190709
NM_001854
NM_080629
NM_080630

NM_007729

RefSeq (protein)

NP_001177638
NP_001845
NP_542196
NP_542197

NP_031755

Location (UCSC)Chr 1: 102.88 – 103.11 MbChr 3: 114.03 – 114.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

The COL11A1 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. Three transcript variants encoding different isoforms have been identified for this gene.[6]

Clinical significance

Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome.[6]

Stickler syndrome, type II is an autosomal dominant condition caused by a mutation in the COL11A1 gene. Features of Stickler syndrome type II include: sensorineural hearing loss, facial features (flat facial profile, anteverted nares, micrognathia), cleft palate, visual disturbances (type 2 vitreous anomaly, childhood-onset myopia, glaucoma, cataracts and retinal detachment), spondyloepiphyseal dysplasia, and arthropathy.

References

  1. GRCh38: Ensembl release 89: ENSG00000060718 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027966 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Bernard M, Yoshioka H, Rodriguez E, Van der Rest M, Kimura T, Ninomiya Y, Olsen BR, Ramirez F (Dec 1988). "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". J Biol Chem. 263 (32): 17159–66. PMID 3182841.
  6. "Entrez Gene: COL11A1 collagen, type XI, alpha 1".

Further reading


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