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COL15A1 Gene

protein-coding   GIFtS: 57
GCID: GC09P101705

Collagen, Type XV, Alpha 1

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(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 XV, Alpha 11 2
Collagen Type XV Proteoglycan1 2
Collagen Alpha-1(XV) Chain2
Collagen XV, Alpha-1 Polypeptide2
endostatin-XV2
restin2

External Ids:    HGNC: 21921   Entrez Gene: 13062   Ensembl: ENSG000002042917   OMIM: 1203255   UniProtKB: P390593   

Export aliases for COL15A1 gene to outside databases

Previous GC identifers: GC09P092506 GC09P093449 GC09P095163 GC09P097086 GC09P098785 GC09P100746 GC09P071304


(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 COL15A1 Gene:
This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated
collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression
is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective
tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially
antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV
deficiency is associated with muscle and microvessel deterioration. (provided by RefSeq, May 2013)

GeneCards Summary for COL15A1 Gene:
COL15A1 (collagen, type XV, alpha 1) is a protein-coding gene. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL18A1.

UniProtKB/Swiss-Prot: COFA1_HUMAN, P39059
Function: Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle
Function: Restin potently inhibits angiogenesis (By similarity)

Gene Wiki entry for COL15A1 (Collagen, type XV, 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_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL15A1 gene promoter:
         COUP-TF1   LHX3b/Lhx3b   Brachyury   COUP   HNF-4alpha2   CUTL1   HNF-4alpha1   c-Ets-1   COUP-TF   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL15A1 promoter sequence
   Search Chromatin IP Primers for COL15A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL15A1


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

Entrez Gene cytogenetic band: 9q21-q22   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q21-q22

COL15A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL15A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P101705:  view genomic region     (about GC identifiers)

Start:
101,705,461 bp from pter      End:
101,833,069 bp from pter
Size:
127,609 bases      Orientation:
plus 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: COFA1_HUMAN, P39059 (See protein sequence)
Recommended Name: Collagen alpha-1(XV) chain precursor  
Size: 1388 amino acids; 141720 Da
Subunit: Trimer; disulfide-linked
Caution: The name restin has also been used for CAP-Gly domain-containing linker protein 1 the product of the
CLIP1 gene
1 PDB 3D structure from and Proteopedia for COL15A1:
3N3F (3D)    
Secondary accessions: Q5T6J4 Q9UDC5 Q9Y4W4

Explore the universe of human proteins at neXtProt for COL15A1: NX_P39059

Explore proteomics data for COL15A1 at MOPED

Post-translational modifications: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • O-glycosylated; with core 1 or possibly core 8 glycans. An N-terminal peptide contains chondroitin sulfate1
  • Glycosylation2 at Thr265, Asn306, Asn324, Asn687, Asn807, Asn814, Asn1046
  • Modification sites at PhosphoSitePlus

  • See COL15A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001846.3  
    ENSEMBL proteins: 
     ENSP00000364140  
    Reactome Protein details: P39059

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    Novus Biologicals COL15A1 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 COL15A1 

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    LSBio Antibodies in human, mouse, rat for COL15A1

    COL15A1 Assay Products:

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

    Selected InterPro protein domains (see all 6):
     IPR001791 Laminin_G
     IPR016187 C-type_lectin_fold
     IPR010515 Collagenase_NC10/endostatin
     IPR016186 C-type_lectin-like
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P39059

    ProtoNet protein and cluster: P39059

    5 Blocks protein domains:
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat
    IPB010515 Collagenase NC10 and endostatin


    UniProtKB/Swiss-Prot: COFA1_HUMAN, P39059
    Similarity: Belongs to the multiplexin collagen family
    Similarity: Contains 4 collagen-like domains
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with COL15A1           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: COFA1_HUMAN, P39059
    Function: Structural protein that stabilizes microvessels and muscle cells, both in heart and in skeletal muscle
    Function: Restin potently inhibits angiogenesis (By similarity)

         Genatlas biochemistry entry for COL15A1:
    collagen,type XV,alpha 1,multiplexin family with interrupted helical domain

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005201extracellular matrix structural constituent IC9651385
         
    Find genes that share ontologies with COL15A1           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col15a1):
     cardiovascular system  muscle 

    Find genes that share phenotypes with COL15A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col15a1tm1Pih for COL15A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL15A1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL15A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL15A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL15A1

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL15A1:
    hsa-mir-29c-3p (MIRT001925), hsa-mir-26b-5p (MIRT029496), hsa-mir-335-5p (MIRT017996)

    Block miRNA regulation of human, mouse, rat COL15A1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL15A1 (see all 25):
    hsa-miR-4307 hsa-miR-4328 hsa-let-7d hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-let-7c hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCOL15A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL15A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL15A1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for COL15A1 (see all 6)
    OriGene ORF clones in mouse, rat for COL15A1
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    GenScript: all cDNA clones in your preferred vector: COL15A1 (NM_001855)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL15A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL15A1

    Cell Line
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    ESI BIO PureStem Progenitors for COL15A1: 
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL15A1


    (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
    COFA1_HUMAN, P39059: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane3
    mitochondrion2
    cytosol1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005582collagen type XV TAS9651385
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA--
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with COL15A1           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 COL15A1 About   (see all 6)  
    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
    2Integrin 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
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with COL15A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL15A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    3 Reactome Pathways for COL15A1
        Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation


    1 Kegg Pathway  (Kegg details for COL15A1):
        Protein digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL15A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL15A1

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

    Selected Interacting proteins for COL15A1 (ENSP000003641404) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    COL14A1ENSP000002978484STRING: ENSP00000297848
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0007155cell adhesion IC9651385
    GO:0007165signal transduction NAS10891348
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030154cell differentiation IEA--

    Find genes that share ontologies with COL15A1           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 COL15A1 (COFA1)



    (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 COL15A1 gene: 
    NM_001855.4  

    Unigene Cluster for COL15A1:

    Collagen, type XV, alpha 1
    Hs.409034  [show with all ESTs]
    Unigene Representative Sequence: NM_001855
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000467052 ENST00000471477 ENST00000375001(uc004azb.1) ENST00000496686

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL15A1 (see all 25):
    hsa-miR-4307 hsa-miR-4328 hsa-let-7d hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-let-7c hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidCOL15A1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat COL15A1
      QuantiFast Probe-based Assays in human, mouse, rat COL15A1

    Additional mRNA sequence: 

    AK095885.1 AK308438.1 D21230.1 L01697.1 L25286.1 

    7 DOTS entries:

    DT.444345  DT.100811433  DT.417602  DT.95259956  DT.95369686  DT.95369687  DT.97799640 

    Selected AceView cDNA sequences (see all 188):

    AL542615 CB988709 BG741496 BM273036 CA418422 BU146609 AI341086 CR595376 
    CD613058 CA432207 AV708101 BM273267 BQ575841 BM142008 AA386188 CR602416 
    CB044841 AK095885 T93884 AW474951 L01697 AI873547 BM141734 BQ004411 

    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™, 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)
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    COL15A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL15A1 Expression
    About this image


    COL15A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
             Floor plate-like cells
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Mature Endothelial Cells Blood Brain Barrier
             Choroid Plexus
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             Immature Schwann Cells Peripheral Nerve Domain
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Neural Crest (Gastrulation Derivatives)    fully expand to see all 2 entries
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    COL15A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL15A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409034

    UniProtKB/Swiss-Prot: COFA1_HUMAN, P39059
    Tissue specificity: Expressed predominantly in internal organs such as adrenal gland, pancreas and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL15A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL15A1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL15A1
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    QuantiFast Probe-based Assays in human, mouse, rat COL15A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL15A1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for COL15A1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col15a11 , 5 collagen, type XV, alpha 11, 5 78.09(n)1
    76.95(a)1
      4 (26.01 cM)5
    128191  NM_009928.31  NP_034058.21 
     472081615 
    chicken
    (Gallus gallus)
    Aves COL15A16
    collagen, type XV, alpha 1
    48(a)
    1 ↔ 1
    2(55950088-56021349)
    lizard
    (Anolis carolinensis)
    Reptilia COL15A16
    collagen, type XV, alpha 1
    54(a)
    1 ↔ 1
    6(55866411-56023235)
    zebrafish
    (Danio rerio)
    Actinopterygii col15a1b1 collagen, type XV, alpha 1b 56.54(n)
    53.2(a)
      558137  NM_001172370.2  NP_001165841.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta mp1 multiplexin 47.67(n)
    39.15(a)
      38769  NM_001169893.2  NP_001163364.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cle-13 cle-1 isoform A 33(a)   I(8714046-8732339)   --


    ENSEMBL Gene Tree for COL15A1 (if available)
    TreeFam Gene Tree for COL15A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL15A1 gene
    COL18A12  

    Find genes that share paralogs with COL15A1           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 COL15A1 (see all 2941)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715018841,2
    C,F--101704066(+) AGATCT/CACTAT 1 -- us2k16Minor allele frequency- C:0.28NA WA EA 364
    rs1431876411,2
    --101704201(+) TCCCTA/GTGGTT 1 -- us2k10--------
    rs1482628591,2
    --101704338(+) AGTTCA/GCCTTA 1 -- us2k10--------
    rs745259841,2
    C,F--101704364(+) TGAGGC/ACAACC 1 -- us2k11Minor allele frequency- A:0.02NA 120
    rs785041181,2
    C,F--101704524(+) TGGACA/GGAGAG 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs1813375811,2
    C--101704657(+) ACTTCA/GCCCTG 1 -- us2k10--------
    rs1869378241,2
    --101704668(+) CAGCCA/GGGGCC 1 -- us2k10--------
    rs38245151,2
    C,F,H--101704737(-) TGGGCG/AGTGAG 1 -- us2k119Minor allele frequency- A:0.26NS EA NA WA 2340
    rs1917504031,2
    --101704873(+) TGGGTC/GTTGCA 1 -- us2k10--------
    rs1412684521,2
    --101704876(+) GTGTTG/TCATCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL15A1 (101705461 - 101833069 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for COL15A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2738827CNV Deletion23290073
    esv270049CNV Insertion20981092
    nsv466442CNV Loss19166990
    nsv528933CNV Loss19592680
    nsv6635CNV Loss18451855
    nsv893618CNV Gain21882294

    Human Gene Mutation Database (HGMD): COL15A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL15A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL15A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120325    OMIM disorders: --


    Find genes that share disorders with COL15A1           About GenesLikeMe

    Genetic Association Database (GAD): COL15A1
    Human Genome Epidemiology (HuGE) Navigator: COL15A1 (3 documents)

    Export disorders for COL15A1 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 COL15A1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with COL15A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Chromosomal assignment of a gene encoding a new collagen type (COL15A1) to 9q21 --> q22. (PubMed id 1427836)1, 2, 3 Huebner K.... Myers J.C. (Genomics 1992)
    2. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    3. Polymorphisms in COL15 gene are not associated with systemic sclerosis. (PubMed id 18203317)1, 4 Pushpakom S.P....Worthington J. (J. Rheumatol. 2008)
    4. Identification and characterization of novel endogenous proteolytic forms of the human angiogenesis inhibitors restin and endostatin. (PubMed id 15698950)1, 2 John H.... Forssmann W.G. (Biochim. Biophys. Acta 2005)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. Basement membrane zone type XV collagen is a disulfide-bonded chondroitin sulfate proteoglycan in human tissues and cultured cells. (PubMed id 10791950)1, 2 Li D.... Myers J.C. (J. Biol. Chem. 2000)
    7. Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin. (PubMed id 10049780)1, 2 Ramchandran R.... Sukhatme V.P. (Biochem. Biophys. Res. Commun. 1999)
    8. Complete exon-intron organization of the human gene for the alpha1 chain of type XV collagen (COL15A1) and comparison with the homologous COL18A1 gene. (PubMed id 9651385)1, 2 Haegg P.M.... Pihlajaniemi T. (J. Biol. Chem. 1998)
    9. Primary structure of the alpha 1 chain of human type XV collagen and exon-intron organization in the 3' region of the corresponding gene. (PubMed id 8106446)1, 2 Kivirikko S....Pihlajaniemi T. (J. Biol. Chem. 1994)
    10. The human alpha 1(XV) collagen chain contains a large amino-terminal non-triple helical domain with a tandem repeat structure and homology to alpha 1(XVIII) collagen. (PubMed id 8307960)1, 2 Muragaki Y.... Ooshima A. (J. Biol. Chem. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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      Query String
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    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)
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    Entrez Gene: 1306 HGNC: 2192 AceView: COL15A1 Ensembl:ENSG00000204291 euGenes: HUgn1306
    ECgene: COL15A1 Kegg: 1306 H-InvDB: COL15A1

    (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 COL15A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL15A1 gene:
    Search GeneIP for patents involving COL15A1

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



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