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Gene: COL11A1 (collagen type XI alpha 1 chain) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
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Disease Annotations
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Genomics

Comparative Map Data
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miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on COL11A1
Alliance Gene
NCBI 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



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