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Gene: COL11A1 (collagen type XI alpha 1 chain) Homo sapiens
Symbol: COL11A1
Name: collagen type XI alpha 1 chain
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CO11A1; COLL6; collagen alpha-1(XI) chain; collagen type XI alpha 1; collagen XI, alpha-1 polypeptide; collagen, type XI, alpha 1; deafness, autosomal dominant 37; DFNA37; procollagen, type xi, alpha 1; STL2
Mus musculus (house mouse) : Col11a1 (collagen, type XI, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col11a1 (collagen type XI alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col11a1 (collagen type XI alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL11A1 (collagen type XI alpha 1 chain)
Canis lupus familiaris (dog) : COL11A1 (collagen type XI alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col11a1 (collagen type XI alpha 1 chain)
Sus scrofa (pig) : COL11A1 (collagen type XI alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381102,876,467 - 103,108,580 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371103,342,023 - 103,574,052 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361103,114,611 - 103,346,640 (-)NCBINCBI36hg18NCBI36
Build 341103,055,015 - 103,286,073NCBI
Celera1101,611,302 - 101,843,503 (-)NCBI
Cytogenetic Map1p21.1NCBI
HuRef1101,474,202 - 101,706,091 (-)NCBIHuRef
CHM1_11103,456,836 - 103,688,896 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on COL11A1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735396
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.