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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

COL11A1 Gene

protein-coding   GIFtS: 61
GCID: GC01M103342

Collagen, Type XI, Alpha 1


(Previous symbol: COLL6)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type XI, Alpha 11 2     Collagen XI1
COLL61 2 3     CO11A12
STL22 5     Collagen Alpha-1(XI) Chain2
Alpha-1 Polypeptide1     Collagen XI, Alpha-1 Polypeptide2

External Ids:    HGNC: 21861   Entrez Gene: 13012   Ensembl: ENSG000000607187   OMIM: 1202805   UniProtKB: P121073   

Export aliases for COL11A1 gene to outside databases

Previous GC identifers: GC01M104172 GC01M102524 GC01M102633 GC01M102805 GC01M103055 GC01M101474


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 marshall syndrome, and stickler syndrome, type 2, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and Focal Adhesion. GO annotations related to this gene include extracellular matrix structural constituent and extracellular matrix binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: COBA1_HUMAN, P12107
Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

Gene Wiki entry for COL11A1 (Collagen, type XI, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL11A1 gene promoter:
         Spz1   GCNF   Nkx2-5   PPAR-gamma1   POU2F1   GCNF-1   HSF2   POU2F1a   PPAR-gamma2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL11A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL11A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL11A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21   Ensembl cytogenetic band:  1p21.1   HGNC cytogenetic band: 1p21

COL11A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL11A1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M103342:  view genomic region     (about GC identifiers)

Start:
103,342,023 bp from pter      End:
103,574,052 bp from pter
Size:
232,030 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: COBA1_HUMAN, P12107 (See protein sequence)
Recommended Name: Collagen alpha-1(XI) chain precursor  
Size: 1806 amino acids; 181065 Da
Subunit: 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)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: B1ASK7 D3DT73 E9PCU0 Q14034 Q149N0 Q9UIT4 Q9UIT5 Q9UIT6
Alternative splicing: 4 isoforms:  P12107-1   P12107-2   P12107-3   P12107-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL11A1: NX_P12107

Explore proteomics data for COL11A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12107

  • COL11A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL11A1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001177638.1  NP_001845.3  NP_542196.2  NP_542197.3  

    ENSEMBL proteins: 
     ENSP00000359114   ENSP00000426533   ENSP00000408640   ENSP00000410177   ENSP00000351163  
     ENSP00000302551  
    Reactome Protein details: P12107
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005592collagen type XI NAS10486316
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012extracellular matrix ----

    COL11A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLLAGEN: Collagens

    5 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000885 Fib_collagen_C
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry P12107

    ProtoNet protein and cluster: P12107

    5 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    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)
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 8 collagen-like domains
    Similarity: Contains 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 laminin G-like domain


    COL11A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COBA1_HUMAN, P12107
    Function: May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils

         Genatlas biochemistry entry for COL11A1:
    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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS10486316
    GO:0030674protein binding, bridging NAS10486316
    GO:0046872metal ion binding IEA--
    GO:0050840extracellular matrix binding NAS3182841
         
    COL11A1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for COL11A1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Increased gamma-H2AX phosphory 
     Synthetic lethal with Ras 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col11a1):
     craniofacial  digestive/alimentary  hearing/vestibular/ear  immune system  limbs/digits/tail 
     mortality/aging  nervous system  respiratory system  skeleton 

    COL11A1 for phenotypes           About GeneDecksing

    Animal Models:
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL11A1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    3Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM-receptor interaction0.42
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL11A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL11A1
        Focal Adhesion

    5/7        Reactome Pathways for COL11A1 (see all 7)
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix
    Collagen formation


    5         Kegg Pathways  (Kegg details for COL11A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL11A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL11A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/96 Interacting proteins for COL11A1 (P121073 ENSP000003511634) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDR1Q083453, ENSP000004060914I2D: score=1 STRING: ENSP00000406091
    ENSG00000137332Q083453I2D: score=1 
    ENSG00000215522Q083453I2D: score=1 
    ENSG00000230456Q083453I2D: score=1 
    ENSG00000234078Q083453I2D: score=1 
    About this table

    Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001502cartilage condensation IEA--
    GO:0002063chondrocyte development IEA--
    GO:0003007heart morphogenesis ----
    GO:0006029proteoglycan metabolic process IEA--
    GO:0007601visual perception IMP10573014

    COL11A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COL11A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for COL11A1 (COBA1)

    1 Novoseek inferred chemical compound relationship for COL11A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 24.7 1 17016581 (1)

    Search CenterWatch for drugs/clinical trials and news about COL11A1 / COBA1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for COL11A1 gene (4 alternative transcripts): 
    NM_001190709.1  NM_001854.3  NM_080629.2  NM_080630.3  

    Unigene Cluster for COL11A1:

    Collagen, type XI, alpha 1
    Hs.523446  [show with all ESTs]
    Unigene Representative Sequence: NM_080629
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370096(uc001duk.3 uc001dul.3 uc009weh.3) ENST00000470170
    ENST00000512756 ENST00000465209 ENST00000461720 ENST00000475980 ENST00000427239
    ENST00000447608 ENST00000358392(uc001dum.3) ENST00000353414(uc001dun.3)

    Congresses - knowledge worth sharing:  
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    Additional mRNA sequence: 

    AB208844.1 AK299025.1 BC117697.1 J04177.1 

    10 DOTS entries:

    DT.315738  DT.92423416  DT.100752223  DT.100029041  DT.75103415  DT.97831784  DT.315740  DT.92423418 
    DT.97812254  DT.91740538 

    24/186 AceView cDNA sequences (see all 186):

    AI753167 AA622554 CN479608 BU170754 CA445893 AI306727 R52906 AU118365 
    BQ008905 BM833209 BQ009532 BU623366 BQ771637 BM782674 BU839402 AA604936 
    CA412510 BU628362 AW496801 BI493425 BX097890 AA331862 BQ774453 BU753538 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL11A1 expression in normal human tissues (normalized intensities)      COL11A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAAAAGCTT
    COL11A1 Expression
    About this image


    COL11A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/29 selected tissues (see all 29) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 26 entries
             Chondrocytes Synchondroses
             Juvenile neocartilage (RevaFlex)
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Annulus Fibrosus Cells (HAFC)   
             fetal cartilage   
     
     Bone (Muscoskeletal System)    fully expand to see all 24 entries
             Prechondrocytes Autopod Epiphyseal End
             Stylopod Long Bone
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Uncategorized (Uncategorized)    fully expand to see all 7 entries
             PureStem Progenitor EN7
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Human Astrocytes   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             limb/hindlimb/hind-paw   

    See COL11A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL11A1

    SOURCE GeneReport for Unigene cluster: Hs.523446

    UniProtKB/Swiss-Prot: COBA1_HUMAN, P12107
    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL11A1: 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL11A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL11A1 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col11a11 , 5 collagen, type XI, alpha 11, 5 87.29(n)1
    92.4(a)1
      3 (49.35 cM)5
    128141  NM_007729.21  NP_031755.21 
     1140305405 
    chicken
    (Gallus gallus)
    Aves COL11A11 collagen, type XI, alpha 1 81.8(n)
    89.15(a)
      374046  XM_001231623.2  XP_001231624.2 
    lizard
    (Anolis carolinensis)
    Reptilia COL11A16
    Uncharacterized protein
    87(a)
    1 ↔ 1
    4(85919156-86232782)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.138512 Transcribed sequence with moderate similarity to protein more 79.65(n)    BX714579.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col11a1a1 collagen, type XI, alpha 1a 71.41(n)
    80.43(a)
      565402  NM_001083844.1  NP_001077313.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL11A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL4A22  COL1A12  
    COL5A22  COL5A12  COL4A32  COL1A22  COL7A12  COL27A12  COL2A12  COL3A12  
    COL4A12  
    12 SIMAP similar genes for COL11A1 using alignment to 10 protein entries:     COBA1_HUMAN (see all proteins):
    COL5A1    COL11A2    COL5A3    C1QTNF9    COL2A1    C1QTNF9B
    COL5A2    COL1A1    COL10A1    COL23A1    SFTPD    COL1A2

    COL11A1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for COL11A1
    PGOHUM00000262881


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5519 SNPs in COL11A1 are shown (see all 5519)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0135874
    Stickler syndrome 2 (STL2)4--see VAR_0135872 G V mis40--------
    VAR_0659054
    Fibrochondrogenesis 1 (FBCG1)4--see VAR_0659052 G R mis40--------
    VAR_0636754
    Stickler syndrome 2 (STL2)4--see VAR_0636752 G V mis40--------
    VAR_0357454
    A breast cancer sample4--see VAR_0357452 Q L mis40--------
    VAR_0659044
    Fibrochondrogenesis 1 (FBCG1)4--see VAR_0659042 G R mis40--------
    VAR_0636784
    Stickler syndrome 2 (STL2)4--see VAR_0636782 G D mis40--------
    VAR_0357444
    A breast cancer sample4--see VAR_0357442 Q K mis40--------
    VAR_0135834
    Stickler syndrome 2 (STL2)4--see VAR_0135832 G V mis40--------
    VAR_0135844
    Stickler syndrome 2 (STL2)4--see VAR_0135842 G R mis40--------
    VAR_0636764
    Stickler syndrome 2 (STL2)4--see VAR_0636762 G R mis40--------

    HapMap Linkage Disequilibrium report for COL11A1 (103342023 - 103574052 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for COL11A1 (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2670279CNV Deletion23128226
    esv2323749CNV Deletion18987734
    nsv506951CNV Insertion20534489
    nsv462739CNV Loss19166990
    nsv870821CNV Loss21882294
    dgv285n71CNV Loss21882294
    dgv282n71CNV Loss21882294
    nsv871198CNV Loss21882294
    dgv284n71CNV Loss21882294
    nsv870521CNV Loss21882294


    Human Gene Mutation Database (HGMD): COL11A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL11A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL11A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120280   
    OMIM disorders: 604841  154780  603932  
    UniProtKB/Swiss-Prot: COBA1_HUMAN, P12107
  • 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. 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/46 diseases for COL11A1 (see all 46):    About MalaCards
    marshall syndrome    stickler syndrome, type 2    lumbar disc herniation    fibrochondrogenesis
    fibrochondrogenesis 1    col11a1-related stickler syndrome    stickler syndrome type 1    stickler syndrome
    vitreoretinal dystrophy    snowflake vitreoretinal degeneration    wagner syndrome    vitreoretinal degeneration
    dihydropyrimidine dehydrogenase deficiency    pierre robin sequence    macroglossia    chorioretinitis
    multiple epiphyseal dysplasia    spinal stenosis    back pain    mitral valve prolapse

    6 diseases from the University of Copenhagen DISEASES database for COL11A1:
    Stickler syndrome     Myopia     Vitreoretinal dystrophy     Retinal detachment
    Vitreous syneresis     Sensorineural hearing loss

    COL11A1 for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for COL11A1 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myopia 71.4 2 10889003 (1), 18280717 (1)
    collagen fibril 53.5 2 17062562 (1), 16752401 (1)
    hearing loss sensorineural 48.6 1 10889003 (1)
    micrognathia 46.9 2 12673280 (2)
    cleft palate 37.3 1 12673280 (1)
    cataract 33.7 1 10889003 (1)
    colorectal carcinoma 13.9 2 11707154 (2)
    metastasis 8.45 3 17123152 (1), 16159426 (1), 17016581 (1)
    nsclc 3.15 2 17016581 (2)
    colorectal cancer 2.93 2 11707154 (1), 11375892 (1)

    GeneTests: COL11A1
    GeneReviews: COL11A1
    Genetic Association Database (GAD): COL11A1
    Human Genome Epidemiology (HuGE) Navigator: COL11A1 (11 documents)

    Export disorders for COL11A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL11A1 gene, integrated from 9 sources (see all 111):
    (articles sorted by number of sources associating them with COL11A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 3182841)1, 2, 3 Bernard M.... Ramirez F. (1988)
    2. Stickler syndrome and the vitreous phenotype: mutatio ns in COL2A1 and COL11A1. (PubMed id 20513134)1, 2, 9 Richards A.J....Snead M.P. (2010)
    3. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. (PubMed id 10486316)1, 2, 9 Annunen S.... Ala-Kokko L. (1999)
    4. A functional polymorphism in COL11A1, which encodes the alpha 1 chain of type XI collagen, is associated with susceptibility to lumbar disc herniation. (PubMed id 17999364)1, 4, 9 Mio F....Ikegawa S. (2007)
    5. 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. (PubMed id 8872475)1, 2, 9 Richards A.J.... Snead M.P. (1996)
    6. Introduction of cytogenetic tests in colorectal cancer screening. (PubMed id 19337631)1, 4, 9 Suceveanu A.I....Adam T. (2009)
    7. The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritis. (PubMed id 15922184)1, 4, 9 Jakkula E....Ala-Kokko L. (2005)
    8. Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing. (PubMed id 19180518)1, 4, 9 Videman T....BattiAc M.C. (2009)
    9. Genetic variants in COL2A1, COL11A2, and IRF6 contrib ute risk to nonsyndromic cleft palate. (PubMed id 20672350)1, 4 Nikopensius T....Metspalu A. (2010)
    10. Fibrochondrogenesis results from mutations in the COL 11A1 type XI collagen gene. (PubMed id 21035103)1, 2 Tompson S.W....Cohn D.H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1301 HGNC: 2186 AceView: COL11A1 Ensembl:ENSG00000060718 euGenes: HUgn1301
    ECgene: COL11A1 Kegg: 1301 H-InvDB: COL11A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL11A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL11A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL11A1 gene:
    Search GeneIP for patents involving COL11A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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     Regulatory tfbs in COL11A1 promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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