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Aliases for COL11A1 Gene

Aliases for COL11A1 Gene

  • Collagen, Type XI, Alpha 1 2 3
  • COLL6 3 4
  • STL2 3 6
  • Collagen XI, Alpha-1 Polypeptide 3
  • Collagen Alpha-1(XI) Chain 3
  • Alpha-1 Polypeptide 2
  • Collagen XI 2
  • CO11A1 3

External Ids for COL11A1 Gene

Previous HGNC Symbols for COL11A1 Gene

  • COLL6

Previous GeneCards Identifiers for COL11A1 Gene

  • GC01M104172
  • GC01M102524
  • GC01M102633
  • GC01M102805
  • GC01M103055
  • GC01M103342
  • GC01M101474

Summaries for COL11A1 Gene

Entrez Gene Summary for COL11A1 Gene

  • 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]

GeneCards Summary for COL11A1 Gene

COL11A1 (Collagen, Type XI, Alpha 1) is a Protein Coding gene. Diseases associated with COL11A1 include stickler syndrome, type ii and marshall syndrome. Among its related pathways are PI3K-Akt signaling pathway and ERK Signaling. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix binding. An important paralog of this gene is COL3A1.

UniProtKB/Swiss-Prot for COL11A1 Gene

  • May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Wiki entry for COL11A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL11A1 Gene

Genomics for COL11A1 Gene

Regulatory Elements for COL11A1 Gene

Genomic Location for COL11A1 Gene

Start:
102,876,467 bp from pter
End:
103,108,496 bp from pter
Size:
232,030 bases
Orientation:
Minus strand

Genomic View for COL11A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for COL11A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL11A1 Gene

Proteins for COL11A1 Gene

  • Protein details for COL11A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12107-COBA1_HUMAN
    Recommended name:
    Collagen alpha-1(XI) chain
    Protein Accession:
    P12107
    Secondary Accessions:
    • B1ASK7
    • D3DT73
    • E9PCU0
    • Q14034
    • Q149N0
    • Q9UIT4
    • Q9UIT5
    • Q9UIT6

    Protein attributes for COL11A1 Gene

    Size:
    1806 amino acids
    Molecular mass:
    181065 Da
    Quaternary structure:
    • Trimers composed of three different chains: alpha 1(XI), alpha 2(XI), and alpha 3(XI). Alpha 3(XI) is a post-translational modification of alpha 1(II). Alpha 1(V) can also be found instead of alpha 3(XI)=1(II)

    Alternative splice isoforms for COL11A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for COL11A1 Gene

Proteomics data for COL11A1 Gene at MOPED

Post-translational modifications for COL11A1 Gene

Other Protein References for COL11A1 Gene

No data available for DME Specific Peptides for COL11A1 Gene

Domains for COL11A1 Gene

Gene Families for COL11A1 Gene

HGNC:

Graphical View of Domain Structure for InterPro Entry

P12107

UniProtKB/Swiss-Prot:

COBA1_HUMAN :
  • P12107
Domain:
  • The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).
  • Contains 8 collagen-like domains.
  • Contains 1 fibrillar collagen NC1 domain.
  • Contains 1 laminin G-like domain.
Family:
  • Belongs to the fibrillar collagen family.
genes like me logo Genes that share domains with COL11A1: view

Function for COL11A1 Gene

Molecular function for COL11A1 Gene

GENATLAS Biochemistry: collagen type XI,alpha 1,fibril forming,expressed in hyaline cartilage,in the ocular vitreous, in the nucleus pulposus of the intervertebral disc and in the inner ear,playing an essential role in skeletal morphogenesis and in maitaining the interfibrillar spacing and fibril diameter of type II collagen
UniProtKB/Swiss-Prot Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Ontology (GO) - Molecular Function for COL11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent NAS 10486316
GO:0030674 protein binding, bridging NAS 10486316
GO:0046872 metal ion binding IEA --
GO:0050840 extracellular matrix binding NAS 3182841
genes like me logo Genes that share ontologies with COL11A1: view
genes like me logo Genes that share phenotypes with COL11A1: view

miRNA for COL11A1 Gene

miRTarBase miRNAs that target COL11A1

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for COL11A1 Gene

Localization for COL11A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for COL11A1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for COL11A1 Gene COMPARTMENTS Subcellular localization image for COL11A1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
cytosol 2
mitochondrion 2
golgi apparatus 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for COL11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer --
GO:0005592 collagen type XI trimer NAS 10486316
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with COL11A1: view

Pathways for COL11A1 Gene

genes like me logo Genes that share pathways with COL11A1: view

Gene Ontology (GO) - Biological Process for COL11A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0002063 chondrocyte development IEA --
GO:0003007 heart morphogenesis --
GO:0006029 proteoglycan metabolic process IEA --
genes like me logo Genes that share ontologies with COL11A1: view

Compounds for COL11A1 Gene

(1) Novoseek inferred chemical compound relationships for COL11A1 Gene

Compound -log(P) Hits PubMed IDs
oligonucleotide 24.7 1
genes like me logo Genes that share compounds with COL11A1: view

Transcripts for COL11A1 Gene

Unigene Clusters for COL11A1 Gene

Collagen, type XI, alpha 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL11A1 Gene

No ASD Table

Relevant External Links for COL11A1 Gene

GeneLoc Exon Structure for
COL11A1
ECgene alternative splicing isoforms for
COL11A1

Expression for COL11A1 Gene

mRNA expression in normal human tissues for COL11A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for COL11A1 Gene

SOURCE GeneReport for Unigene cluster for COL11A1 Gene Hs.523446

mRNA Expression by UniProt/SwissProt for COL11A1 Gene

P12107-COBA1_HUMAN
Tissue specificity: Cartilage, placenta and some tumor or virally transformed cell lines. Isoforms using exon IIA or IIB are found in the cartilage while isoforms using only exon IIB are found in the tendon
genes like me logo Genes that share expressions with COL11A1: view

No data available for mRNA differential expression in normal tissues for COL11A1 Gene

Orthologs for COL11A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for COL11A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia COL11A1 35
  • 99.39 (n)
  • 99.72 (a)
COL11A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia COL11A1 35
  • 92.86 (n)
  • 96.48 (a)
COL11A1 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia COL11A1 35
  • 92.98 (n)
  • 97.2 (a)
COL11A1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Col11a1 35
  • 87.29 (n)
  • 92.24 (a)
Col11a1 16
Col11a1 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia COL11A1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia COL11A1 36
  • 85 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Col11a1 35
  • 86.92 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves COL11A1 35
  • 81.8 (n)
  • 89.15 (a)
COL11A1 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia COL11A1 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia col5a3 35
  • 74.97 (n)
  • 82.58 (a)
Str.13851 35
zebrafish
(Danio rerio)
Actinopterygii col11a1a 35
  • 72.43 (n)
  • 81.31 (a)
col11a1a 36
  • 79 (a)
OneToMany
col11a1b 36
  • 75 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 63 (a)
OneToMany
Species with no ortholog for COL11A1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for COL11A1 Gene

ENSEMBL:
Gene Tree for COL11A1 (if available)
TreeFam:
Gene Tree for COL11A1 (if available)

Paralogs for COL11A1 Gene

Pseudogenes.org Pseudogenes for COL11A1 Gene

genes like me logo Genes that share paralogs with COL11A1: view

Variants for COL11A1 Gene

Sequence variations from dbSNP and Humsavar for COL11A1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1085 -- 102,890,612(+) AGTTG(A/C)AAATA intron-variant
rs945326 -- 102,885,699(+) ATATA(G/T)CTTAC intron-variant
rs945748 -- 103,017,958(+) CCTAT(C/T)GAAGA intron-variant
rs951413 -- 103,037,582(-) TCCTA(G/T)TAAGG intron-variant
rs951414 -- 103,037,766(-) ATATT(A/T)AAAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL11A1 Gene

Variant ID Type Subtype PubMed ID
nsv830882 CNV Loss 17160897
nsv522922 CNV Loss 19592680
dgv281n71 CNV Loss 21882294
dgv282n71 CNV Loss 21882294
nsv870821 CNV Loss 21882294
dgv283n71 CNV Loss 21882294
dgv284n71 CNV Loss 21882294
dgv285n71 CNV Loss 21882294
nsv870601 CNV Gain 21882294
nsv462739 CNV Loss 19166990
nsv871494 CNV Gain+Loss 21882294
nsv462750 CNV Loss 19166990
dgv286n71 CNV Loss 21882294
dgv287n71 CNV Loss 21882294
esv24564 CNV Gain 19812545
dgv288n71 CNV Loss 21882294
nsv871736 CNV Gain 21882294
nsv870521 CNV Loss 21882294
esv2323749 CNV Deletion 18987734
esv2670279 CNV Deletion 23128226
nsv871198 CNV Loss 21882294
nsv462772 CNV Loss 19166990
dgv25n27 CNV Loss 19166990
dgv289n71 CNV Loss 21882294
nsv830893 CNV Loss 17160897
dgv290n71 CNV Loss 21882294
nsv506951 CNV Insertion 20534489

Relevant External Links for COL11A1 Gene

HapMap Linkage Disequilibrium report
COL11A1
Human Gene Mutation Database (HGMD)
COL11A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for COL11A1 Gene

Disorders for COL11A1 Gene

(4) OMIM Diseases for COL11A1 Gene (120280)

UniProtKB/Swiss-Prot

COBA1_HUMAN
  • Stickler syndrome 2 (STL2) [MIM:604841]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269 PubMed:20513134, ECO:0000269 PubMed:8872475}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Marshall syndrome (MRSHS) [MIM:154780]: An autosomal dominant disorder characterized by ocular abnormalities, deafness, craniofacial anomalies, and anhidrotic ectodermal dysplasia. Clinical features include short stature; flat or retruded midface with short, depressed nose, flat nasal bridge and anteverted nares; cleft palate with or without the Pierre Robin sequence; appearance of large eyes with ocular hypertelorism; cataracts, either congenital or juvenile; esotropia; high myopia; sensorineural hearing loss; spondyloepiphyseal abnormalities; calcification of the falx cerebri; ectodermal abnormalities, including defects in sweating and dental structures. {ECO:0000269 PubMed:10486316}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Fibrochondrogenesis 1 (FBCG1) [MIM:228520]: A severe short-limbed skeletal dysplasia characterized by broad long-bone metaphyses, pear-shaped vertebral bodies, and characteristic morphology of the growth plate, in which the chondrocytes have a fibroblastic appearance and there are regions of fibrous cartilage extracellular matrix. Clinical features include a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. {ECO:0000269 PubMed:21035103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for COL11A1 Gene

Disease -log(P) Hits PubMed IDs
myopia 71.4 2
collagen fibril 53.5 2
hearing loss sensorineural 48.6 1
micrognathia 46.9 2
cleft palate 37.3 1

Relevant External Links for COL11A1

GeneTests
COL11A1
GeneReviews
COL11A1
Genetic Association Database (GAD)
COL11A1
Human Genome Epidemiology (HuGE) Navigator
COL11A1
genes like me logo Genes that share disorders with COL11A1: view

Publications for COL11A1 Gene

  1. A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha- 1(XI) collagen. (PMID: 8872475) Richards A.J. … Snead M.P. (Hum. Mol. Genet. 1996) 3 4 23
  2. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (PMID: 10486316) Annunen S. … Ala-Kokko L. (Am. J. Hum. Genet. 1999) 3 4 23
  3. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. (PMID: 15922184) Jakkula E. … Ala-Kokko L. (Osteoarthr. Cartil. 2005) 3 23 48
  4. A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. (PMID: 17999364) Mio F. … Ikegawa S. (Am. J. Hum. Genet. 2007) 3 23 48
  5. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. (PMID: 19180518) Videman T. … BattiAc M.C. (Arthritis Rheum. 2009) 3 23 48

Products for COL11A1 Gene

  • antibodies-online peptides for COL11A1
  • antibodies-online antibodies for COL11A1
  • antibodies-online kits for COL11A1

Sources for COL11A1 Gene

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