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COL1A1 Gene

protein-coding   GIFtS: 73
GCID: GC17M048260

Collagen, Type I, Alpha 1

  See COL1A1-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)
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Aliases
Collagen, Type I, Alpha 11 2     Collagen Alpha-1(I) Chain2
Alpha-1 Type I Collagen2 3     Collagen Alpha-1(I) Chain Preproprotein2
OI42     Collagen Of Skin, Tendon And Bone, Alpha-1 Chain2
Collagen Alpha 1 Chain Type I2     Pro-Alpha-1 Collagen Type 12

External Ids:    HGNC: 21971   Entrez Gene: 12772   Ensembl: ENSG000001088217   OMIM: 1201505   UniProtKB: P024523   

Export aliases for COL1A1 gene to outside databases

Previous GC identifers: GC17M047864 GC17M050742 GC17M048602 GC17M048736 GC17M045617 GC17M043632


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COL1A1 Gene:
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one
alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone,
cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV,
Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic
osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for
platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called
dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts,
resulting from the use of alternate polyadenylation signals, have been identified for this gene. (provided by R.
Dalgleish, Feb 2008)

GeneCards Summary for COL1A1 Gene:
COL1A1 (collagen, type I, alpha 1) is a protein-coding gene. Diseases associated with COL1A1 include osteogenesis imperfecta type i, and ehlers-danlos syndrome, classic type, col1a1-related. GO annotations related to this gene include platelet-derived growth factor binding and identical protein binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452
Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Wiki entry for COL1A1 (Collagen, type I, 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL1A1 gene promoter:
         GR   USF1   GR-beta   HSF1 (long)   GATA-1   AREB6   USF-1   c-Myb   HSF1short   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL1A1 promoter sequence
   Search Chromatin IP Primers for COL1A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL1A1


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

Entrez Gene cytogenetic band: 17q21.33   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.33

COL1A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL1A1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M048260:  view genomic region     (about GC identifiers)

Start:
48,260,650 bp from pter      End:
48,279,000 bp from pter
Size:
18,351 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452 (See protein sequence)
Recommended Name: Collagen alpha-1(I) chain precursor  
Size: 1464 amino acids; 138941 Da
Subunit: Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with
TRAM2
Sequence caution: Sequence=BAD92834.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for COL1A1:
1Q7D (3D)        2LLP (3D)        3EJH (3D)        3GXE (3D)    
Secondary accessions: O76045 P78441 Q13896 Q13902 Q13903 Q14037 Q14992 Q15176 Q15201 Q16050
Q59F64 Q7KZ30 Q7KZ34 Q8IVI5 Q8N473 Q9UML6 Q9UMM7

Explore the universe of human proteins at neXtProt for COL1A1: NX_P02452

Explore proteomics data for COL1A1 at MOPED

Post-translational modifications: 

  • Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of
    the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in
    some of the chains1
  • O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added
    hydroxyl group1
  • Glycosylation2 at Lys265, Thr478, Lys1108, Thr1234, Asn1365
  • Modification sites at PhosphoSitePlus

  • See COL1A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000079.2  
    ENSEMBL proteins: 
     ENSP00000225964   ENSP00000460459  
    Reactome Protein details: P02452

    COL1A1 Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant COL1A1 Protein
    R&D Systems Recombinant & Natural Proteins for COL1A1 (Collagen I alpha 1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for COL1A1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for COL1A1
    GenScript Custom Purified and Recombinant Proteins Services for COL1A1
    Novus Biologicals COL1A1 Proteins
    Novus Biologicals COL1A1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for COL1A1 

    COL1A1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL1A1
    R&D Systems Antibodies for COL1A1 (Collagen I alpha 1)
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    Novus Biologicals COL1A1 Antibodies
    Abcam antibodies for COL1A1 (P08123, P02452, P20908, P02461)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for COL1A1
    LSBio Antibodies in human, mouse, rat for COL1A1

    COL1A1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for COL1A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for COL1A1 


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

    3 InterPro protein domains:
     IPR000885 Fib_collagen_C
     IPR001007 VWF_C
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P02452

    ProtoNet protein and cluster: P02452

    4 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB001007 von Willebrand factor
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452
    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 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 VWFC domain


    Find genes that share domains with COL1A1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO1A1_HUMAN, P02452
    Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

         Genatlas biochemistry entry for COL1A1:
    collagen type I,alpha 1,fibril forming,putative downregulated c-Myc target gene,

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005515protein binding IPI14749390
    GO:0042802identical protein binding IDA17211858
    GO:0046872metal ion binding IEA--
    GO:0048407platelet-derived growth factor binding IDA8900172
         
    Find genes that share ontologies with COL1A1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL1A1:
     Decreased G3BP1 protein expres  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 60 alleles(MGI details for Col1a1) (see all 27):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear 
     hematopoietic system  homeostasis/metabolism  immune system  integument  limbs/digits/tail 

    Find genes that share phenotypes with COL1A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for COL1A1: Col1a1tm2.1Bst Col1a1tm1Bst Col1a1tm1Dab Col1a1tm2Bst

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL1A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL1A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL1A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL1A1

    miRNA
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    miRTarBase miRNAs that target COL1A1:
    hsa-mir-124-3p (MIRT022587), hsa-mir-29c-3p (MIRT000928), hsa-mir-29b-3p (MIRT000100), hsa-mir-143-3p (MIRT004242), hsa-mir-133a-3p (MIRT021714)

    Block miRNA regulation of human, mouse, rat COL1A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL1A1 (see all 54):
    hsa-let-7d hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-371-5p hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCOL1A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL1A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL1A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL1A1

    Clone
    Products:
         
    OriGene clones in human, mouse for COL1A1 (see all 6)
    OriGene ORF clones in mouse, rat for COL1A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL1A1 (NM_000088)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL1A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL1A1
    Addgene plasmids for COL1A1 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for COL1A1
    ESI BIO PureStem Progenitors for COL1A1: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor, PureStem 7SMOO32, NCr-fac & Meso Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem MEL2, NCr-fac Progenitor,
    PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10070) for COL1A1 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CO1A1_HUMAN, P02452: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    nucleus2
    cytoskeleton1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005581collagen ----
    GO:0005584collagen type I IMP14976317
    GO:0005615extracellular space IDA--

    Find genes that share ontologies with COL1A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for COL1A1 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    4Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with COL1A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL1A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    Selected GeneGo (Thomson Reuters) Pathways for COL1A1 (see all 8)
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Development Endothelin-1/EDNRA transactivation of EGFR
    Cell adhesion Integrin inside-out signaling
    Transcription Role of VDR in regulation of genes involved in osteoporosis
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms

    Selected BioSystems Pathways for COL1A1 (see all 6)
        Focal Adhesion
    Senescence and Autophagy
    IL4-mediated signaling events
    VEGFR3 signaling in lymphatic endothelium
    Inflammatory Response Pathway

    Selected Reactome Pathways for COL1A1 (see all 14)
        Platelet Adhesion to exposed collagen
    Integrin cell surface interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation
    GPVI-mediated activation cascade

    1 PharmGKB Pathway for COL1A1
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5 Kegg Pathways  (Kegg details for COL1A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL1A1 (see all 12): 
              Osteogenesis in human mouse rat
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cell Surface Markers in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for COL1A1

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

    Selected Interacting proteins for COL1A1 (P024521, 2, 3 ENSP000002259644) via UniProtKB, MINT, STRING, and/or I2D (see all 114)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COCHO434052, 3, ENSP000002163614MINT-6796048 I2D: score=1 STRING: ENSP00000216361
    CAPN1P073843, ENSP000002792474I2D: score=3 STRING: ENSP00000279247
    SPARCP094863, ENSP000002310614I2D: score=3 STRING: ENSP00000231061
    TXNP105993, ENSP000003636414I2D: score=3 STRING: ENSP00000363641
    VWFP042753, ENSP000002614054I2D: score=3 STRING: ENSP00000261405
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 46):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP14976317
    GO:0001503ossification ----
    GO:0001568blood vessel development IMP17211858
    GO:0001649osteoblast differentiation IEA--
    GO:0001957intramembranous ossification IEA--

    Find genes that share ontologies with COL1A1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL1A1 (CO1A1)

    1 HMDB Compound for COL1A1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for COL1A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Collagenase-- 9001-12-1target--12855673 17440987 12535212 15659034 12101112

    Selected Novoseek inferred chemical compound relationships for COL1A1 gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 67.1 3 8418862 (1), 15727634 (1), 9076960 (1)
    vitamin d 58.9 37 16159929 (2), 17028393 (1), 12916320 (1), 12879219 (1) (see all 28)
    nppa 54.6 3 15582321 (2), 14993121 (1)
    rsai 50.7 7 10928224 (1), 12879219 (1), 1982109 (1), 12491092 (1) (see all 5)
    hydroxylysine 49.9 1 10329027 (1)
    imatinib 44.1 1 17195235 (1)
    apai 39.2 3 16261459 (1), 20015871 (1)
    mspi 36.6 4 10928224 (1), 1982109 (1), 11208313 (1)
    xbai 27.2 3 12879219 (1), 20015871 (1), 11420783 (1)
    bleomycin 24.7 3 16187293 (2), 17387717 (1)



    Find genes that share compounds with COL1A1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COL1A1 gene: 
    NM_000088.3  

    Unigene Cluster for COL1A1:

    Collagen, type I, alpha 1
    Hs.172928  [show with all ESTs]
    Unigene Representative Sequence: Z74615
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000225964(uc002iqm.3) ENST00000510710 ENST00000486572 ENST00000511732
    ENST00000494334 ENST00000476387 ENST00000504289 ENST00000463440 ENST00000471344
    ENST00000485870 ENST00000495677 ENST00000474644 ENST00000507689
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL1A1 (see all 54):
    hsa-let-7d hsa-miR-1224-3p hsa-miR-1260b hsa-miR-29a hsa-miR-371-5p hsa-miR-218 hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCOL1A1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL1A1
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    OriGene ORF clones in mouse, rat for COL1A1
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    GenScript: all cDNA clones in your preferred vector: COL1A1 (NM_000088)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL1A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL1A1
    Addgene plasmids for COL1A1 
    Primer
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    OriGene qPCR primer pairs and template standards for COL1A1
    OriGene qSTAR qPCR primer pairs in human, mouse for COL1A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL1A1
      QuantiTect SYBR Green Assays in human, mouse, rat COL1A1
      QuantiFast Probe-based Assays in human, mouse, rat COL1A1
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10070) for COL1A1 

    Additional mRNA sequence: 

    AB209597.1 AK297731.1 BC036531.2 JQ236861.1 K01228.1 M36546.1 S64596.1 X06269.1 
    X07884.1 Z74615.1 

    Selected DOTS entries (see all 92):

    DT.102841307  DT.95105014  DT.87077250  DT.95077068  DT.100662609  DT.100662592  DT.92404389  DT.95171216 
    DT.95123444  DT.91808350  DT.95353801  DT.100788832  DT.95301324  DT.92476449  DT.102841298  DT.100775390 
    DT.95171185  DT.100748130  DT.100799297  DT.120952848  DT.120952850  DT.100647432  DT.120952797  DT.120953013 

    2025 AceView cDNA sequences (see top 24):

    AW067809 BF448544 N24817 BU845101 CA439533 BM987377 BQ941669 BM698037 
    BU617491 BU528413 AI753941 BM722696 BQ932370 BF914815 AI754861 AW068985 
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    BG015545 X98710 BF935220 T47683 R84909 AJ708592 AI675919 AW602066 
    N67568 BM723845 BX417130 CD607424 BU617536 T53376 CD607375 BX400090 
    AW610134 AW022989 AW749068 CK000558 R91147 AW859639 BF349009 AI751709 
    AW580013 AI752739 AA489810 AI569133 AI433929 CA434897 BI495920 W25354 
    AW022860 AW580002 AA136688 AI751927 AA992596 BF750326 BF935221 AA292006 
    CD607420 BG874973 BU616218 BQ333580 BQ354583 R92800 BI495865 BE157479 
    BG938754 AA780688 X98707 AA853652 CD511784 AA485811 BF920625 AA937318 
    AA665794 AI702533 AA233611 CD607425 BQ940154 BI014822 BQ316597 BF081502 
    BE697822 AW372180 BM558011 BQ359150 Y15918 H52244 AA853490 BQ331976 
    BE074784 AW881179 AW088830 AA853325 AA666230 BE077393 AW581307 AA062958 
    AW189452 AA653779 AI752554 AA173693 CD607409 BF351022 AW273071 BG983155 
    AI951166 BE049241 AW838925 BQ182830 AI963366 BF927957 AA167585 AI270472 
    BM721993 AI758599 AW151041 BG678211 BG015540 AA422143 AA669998 AW581319 
    AW613692 AA362864 AW864914 BG985161 AW628457 AA852836 CF780773 BI493506 
    AW580023 AA780507 BM987367 BQ375027 AW067773 BF844616 AA780459 BX390605 
    BQ312537 AA136731 CA428838 BG036048 AW068393 AI750535 AW578301 BF770603 
    AW084826 AW067817 AA852897 X98709 AW352231 AA167584 BG986488 AA704482 
    AW579339 AI653927 BF351026 AI352406 AA668423 AW067927 AI752838 AW352222 
    BM511132 AA378693 AA669843 BF935189 AW838010 BF839690 AA373704 AW578280 
    N73954 AW841427 AA853394 CD607412 AW339169 BE812922 AA348007 BE816003 
    CA428079 AA373942 H78947 CD607376 AA094624 CD607410 AW581130 AI696990 
    AW384986 CA445837 AA853402 AA668375 AU144820 BF770220 BG015543 BQ344772 
    AW084899 BQ328381 BG878339 BQ292033 AI571460 BE009223 AW370425 AI910274 
    AI750767 AA375019 H82181 AI205280 AW577641 AA599996 AI752053 R71688 
    AA853221 AI684316 AW191918 AI571571 R71009 BF448500 AA852896 BI035966 
    AA853295 CD607379 AA454895 CD607417 CA429068 CA427090 BU616404 AA174048 
    AI858855 BQ311324 AA376383 BF834357 AA853611 AA345179 BE813022 AA853705 
    AI953832 BU617534 AW839112 BG994925 AW838016 AW578278 AW581133 BF935228 
    CA427176 AW514804 AW014698 CD607370 BI035974 AA853617 AA853294 BF738033 
    BF879255 BQ328409 AW581415 BQ549681 AA599483 BI760800 BQ328629 CD607390 
    BQ888382 AA595560 AI751536 AW578282 AI092042 CA437749 BG946285 AA853632 
    AA375815 BM667667 AA613556 BF447533 R64077 BI494864 AW581328 BF839707 
    BM989965 AW067861 AA617730 CD607433 BQ344264 AW839119 BF753375 AI453746 
    AA853572 AA375457 AW602101 AA780554 H50793 BX458526 BI035969 BI015114 
    BF739243 BI037970 BG877983 AA454820 BF924551 BU071894 BF838776 BF836082 
    BF879235 AI567787 AW578299 AW150147 BQ315227 CA426957 N34179 Y15919 
    AA346935 BE815817 CD607388 AW609455 CK000489 BF738682 AW608567 AI654385 
    AA293756 AW152521 N56826 AW384992 AW839408 AA167235 BI497157 BQ315233 
    CK128669 BF869083 BF772133 AI624300 AW022301 AW022210 AA365927 W21196 
    BF877225 AA852369 BI017900 BF738453 AW021093 BI042130 BQ328384 AA496395 
    BF868679 CD607414 BQ366758 AW581421 BQ315234 N31204 AA853571 BQ185109 
    AA853343 BF830400 BG985169 AA852465 AW080750 BF351018 BF843723 AW581304 
    AW370462 AW839441 AW373802 R91193 AW577457 BG938485 AW841447 BG010514 
    BQ029022 BF351029 AA437411 AA218722 AW373875 H27428 AH002675 AA853525 
    Y15917 BG938670 AA853616 W05288 X98708 BF081599 BX424097 AI750278 
    BU615748 T99669 AI906266 AW373912 AW602049 AA070541 R73275 W03733 
    AA853657 AA477902 R79511 AW579995 BU070413 AW955297 Y15914 AW663319 
    BM313794 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COL1A1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^
    SP1:                                                                                                                                                            
    SP2:                                                              -                                                                                             
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:  -                                                                                                                                                         

    ExUns: 42 ^ 43 ^ 44 ^ 45a · 45b ^ 46a · 46b ^ 47 ^ 48a · 48b ^ 49a · 49b
    SP1:                                                                        
    SP2:                                                                        
    SP3:                                                                        
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for COL1A1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    COL1A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAAAAACC
    COL1A1 Expression
    About this image


    COL1A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 37) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 31 entries
             Endochondral Preosteoblasts Caudal Endochondral Bones
             Stylopod Long Bone
             Notch-transfected mesenchymal stromal cells (SB623)
             Pelleted mesenchymal stem cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 18 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
             Matrix-induced autologous cultured chondrocytes (MACI«)
             BMP2 induced Embryoid Bodies
     
     Limb (Muscoskeletal System)    fully expand to see all 8 entries
             Prechondrocytic Mesenchymal Cells Stylopod
             Stylopod
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 5 entries
             Early Tenocyte Cells Axial Tendon Primordia
             Tenocytes
     
     Dermis (Integumentary System)    fully expand to see all 4 entries
             Dermal Fibroblasts Dorsal Dermis
    COL1A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL1A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.172928

    UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452
    Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with
    calcium hydroxyapatite

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL1A1 (see all 12): 
              Osteogenesis in human mouse rat
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cell Surface Markers in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for COL1A1
    OriGene qSTAR qPCR primer pairs in human, mouse for COL1A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL1A1
    QuantiTect SYBR Green Assays in human, mouse, rat COL1A1
    QuantiFast Probe-based Assays in human, mouse, rat COL1A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A1

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for COL1A1 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col1a11 , 5 collagen, type I, alpha 11, 5 89.58(n)1
    92.43(a)1
      11 (59.01 cM)5
    128421  NM_007742.31  NP_031768.21 
     949362245 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    19(a)
    many ↔ many
    1(1177700-1258653)
    lizard
    (Anolis carolinensis)
    Reptilia COL1A16
    collagen, type I, alpha 1
    86(a)
    1 ↔ 1
    6(77523349-77568650)
    African clawed frog
    (Xenopus laevis)
    Amphibia col1a1-prov2 collagen, type I, alpha 1 79.21(n)    BC049829.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col1a12 collagen, type I, alpha 1 79.27(n)   337158  BC063249.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C6
    Collagen type IV
    28(a)
    1 → many
    2L(5029609-5037279)


    ENSEMBL Gene Tree for COL1A1 (if available)
    TreeFam Gene Tree for COL1A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for COL1A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    Selected SIMAP similar genes for COL1A1 using alignment to 12 protein entries:     CO1A1_HUMAN (see all proteins) (see all similar genes):
    COL2A1    COL1A2    DKFZp434L081    ECM2    COL6A2    COL5A2
    COL3A1    MSR1    COL7A1    EMID1    C1QB    COL5A1
    COL6A1    COL11A2    COL11A1    SFTPD    COL14A1    FCN2

    Find genes that share paralogs with COL1A1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COL1A1 (see all 1397)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs573778121,2,,4
    COsteogenesis imperfecta 2 (OI2)4 untested149286182(+) GGGTCC/G/TGGGTT 3 R G mis10--------
    VAR_0016814
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0016812 G R mis40--------
    VAR_0016484
    Osteogenesis imperfecta 1 (OI1)4--see VAR_0016482 G C mis40--------
    VAR_0017004
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0017002 G V mis40--------
    VAR_0633374
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0633372 G S mis40--------
    VAR_0017204
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0017202 G C mis40--------
    VAR_0017334
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0017332 W C mis40--------
    VAR_0017274
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0017272 G S mis40--------
    VAR_0017034
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0017032 G V mis40--------
    VAR_0016684
    Osteogenesis imperfecta 4 (OI4)4--see VAR_0016682 G S mis40--------

    HapMap Linkage Disequilibrium report for COL1A1 (48260650 - 48279000 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for COL1A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670012CNV Deletion23128226
    nsv908597CNV Loss21882294
    nsv908588CNV Loss21882294
    dgv3225n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): COL1A1
    Locus Specific Mutation Databases (LSDB): COL1A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL1A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL1A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 120150   
    OMIM disorders: 166200  166210  259420  166220  130000  130060  166710  114000  
    UniProtKB/Swiss-Prot: CO1A1_HUMAN, P02452
  • Caffey disease (CAFFD) [MIM:114000]: Characterized by an infantile episode of massive subperiosteal new
    bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved
    bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone
    changes usually begin before 5 months of age and resolve before 2 years of age. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by
    hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe
    form of classic Ehlers-Danlos syndrome. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Ehlers-Danlos syndrome 7A (EDS7A) [MIM:130060]: A connective tissue disorder characterized by
    hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral
    congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature,
    and no dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal
    fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory
    insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short
    stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate
    scoliosis, grayish or white sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and
    deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile
    bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of
    multifactorial etiology and is usually clinically silent until a fracture occurs. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation
    t(17;22)(q22;q13) with PDGF

  • Selected diseases for COL1A1 (see all 36):    
    About MalaCards
    osteogenesis imperfecta type i    ehlers-danlos syndrome, classic type, col1a1-related    ehlers-danlos syndrome, vascular-like type    type i ehlers-danlos syndrome
    ehlers?Óˇdanlos syndrome classical type    oi type ii    caffey disease    ehlers-danlos syndrome, type vii
    osteoporosis    dermatofibrosarcoma    dermatofibrosarcoma protuberans    osteogenesis imperfecta type 4
    high bone mass osteogenesis imperfecta    col1a1/2-related osteogenesis imperfecta    frozen shoulder    osteogenesis imperfecta type iii
    perinatally lethal osteogenesis imperfecta    osteogenesis imperfecta    ehlers-danlos/osteogenesis imperfecta syndrome    ehlers?Óˇdanlos syndrome arthrochalasia type

    8 diseases from the University of Copenhagen DISEASES database for COL1A1:
    Osteogenesis imperfecta     Dermatofibrosarcoma     Caffey disease     Osteoporosis
    Dentinogenesis imperfecta     Ehlers-Danlos syndrome     Otosclerosis     Systemic scleroderma

    Find genes that share disorders with COL1A1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for COL1A1 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteogenesis imperfecta 94.7 89 1967900 (2), 9752968 (2), 15241796 (2), 2220807 (2) (see all 76)
    oi, type i 93.9 55 8544188 (4), 10521849 (4), 11860074 (4), 18755172 (3) (see all 26)
    osteogenesis imperfecta, type ii 91.2 8 18996919 (1), 1460046 (1), 7487936 (1), 17508636 (1) (see all 7)
    oi, type iv 88.3 2 11208313 (1), 11286811 (1)
    oi, type iii 87.4 8 8100856 (2), 9240878 (1), 19283684 (1), 7789952 (1) (see all 6)
    dermatofibrosarcoma protuberans 85.5 18 12786837 (2), 16040406 (2), 20133221 (1), 16681596 (1) (see all 12)
    dentinogenesis imperfecta 80.3 1 11286811 (1)
    ehlers-danlos syndrome, type i 75.1 2 1684560 (1), 17118335 (1)
    caffey disease 73.9 4 18704262 (1), 15864348 (1)
    ehlers-danlos syndrome 72.2 8 1990839 (1), 1867198 (1), 16816023 (1), 18272325 (1) (see all 8)

    GeneTests: COL1A1
    GeneReviews: COL1A1
    Genetic Association Database (GAD): COL1A1
    Human Genome Epidemiology (HuGE) Navigator: COL1A1 (153 documents)

    Export disorders for COL1A1 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)
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    PubMed articles for COL1A1 gene, integrated from 10 sources (see all 855):
    (articles sorted by number of sources associating them with COL1A1)
        Utopia: connect your pdf to the dynamic
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    1. Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene. (PubMed id 8841196)1, 2, 4, 9 Grant S.F.A.... Ralston S.H. (Nat. Genet. 1996)
    2. Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis. (PubMed id 12101112)1, 4, 7 Chiu C.J....Chen C.J. (amp 2002)
    3. Structure of a full-length cDNA clone for the prepro alpha 1(I) chain of human type I procollagen. (PubMed id 3178743)1, 2, 3 Tromp G.... Prockup D.J. (Biochem. J. 1988)
    4. Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts. (PubMed id 2857713)1, 2, 3 Chu M.-L.... Ramirez F. (J. Biol. Chem. 1985)
    5. Association between bone mineral density and polymorphisms of the VDR, ERalpha, COL1A1 and CTR genes in Spanish postmenopausal women. (PubMed id 15966503)1, 4, 9 BandrAcs E....GarcA-a-Foncillas J. (J. Endocrinol. Invest. 2005)
    6. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796)1, 4, 9 Hartikka H....Ala-Kokko L. (Hum. Mutat. 2004)
    7. Genetic control of bone density and turnover: role of the collagen 1alpha1, estrogen receptor, and vitamin D receptor genes. (PubMed id 11316004)1, 4, 9 Brown M.A....Eisman J.A. (J. Bone Miner. Res. 2001)
    8. [Association study between mutations of transcription regulator sequences of COL1A1 gene and idiopathic con-genital talipes equinovarus]. (PubMed id 18550494)1, 4, 9 Zhao N....Sun K.L. (Yi Chuan 2008)
    9. Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits. (PubMed id 15994869)1, 4, 9 Tilkeridis C....Stratakis C.A. (J. Med. Genet. 2005)
    10. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650)1, 4, 9 RodrA-guez L....Zapata C. (Am. J. Med. Genet. A 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1277 HGNC: 2197 AceView: COL1A1 Ensembl:ENSG00000108821 euGenes: HUgn1277
    ECgene: COL1A1 Kegg: 1277 H-InvDB: COL1A1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COL1A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL1A1 Genetics and Cytogenetics in Oncology and Haematology
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=COL1A1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL1A1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Type-I_collagen

    (Patent information from GeneIP,
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    Patent Information for COL1A1 gene:
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    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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