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COL5A1 Gene

protein-coding   GIFtS: 64
GCID: GC09P137533

Collagen, Type V, Alpha 1

  See COL5A1-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 V, Alpha 11 2
Alpha 1 Type V Collagen1
Collagen Alpha-1(V) Chain2
EC 2.7.7.68
EC 6.1.18

External Ids:    HGNC: 22091   Entrez Gene: 12892   Ensembl: ENSG000001306357   OMIM: 1202155   UniProtKB: P209083   

Export aliases for COL5A1 gene to outside databases

Previous GC identifers: GC09P128683 GC09P129302 GC09P131056 GC09P132972 GC09P134759 GC09P136673 GC09P106996


(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 COL5A1 Gene:
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules
are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues
containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and
type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen
chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded
procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in
this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results
in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for COL5A1 Gene:
COL5A1 (collagen, type V, alpha 1) is a protein-coding gene. Diseases associated with COL5A1 include ehlers-danlos syndrome, classic type, col5a1-related, and annular pancreas. GO annotations related to this gene include extracellular matrix structural constituent and heparin binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO5A1_HUMAN, P20908
Function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective
tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate,
thrombospondin, heparin, and insulin

Gene Wiki entry for COL5A1 (Collagen, type V, 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 COL5A1 gene promoter:
         Max1   AhR   AP-2alpha isoform 3   AP-2alpha isoform 2   C/EBPalpha   Arnt   RORalpha2   AP-2alpha isoform 4   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL5A1 promoter sequence
   Search Chromatin IP Primers for COL5A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL5A1


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

Entrez Gene cytogenetic band: 9q34.2-q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.2-q34.3

COL5A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL5A1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P137533:  view genomic region     (about GC identifiers)

Start:
137,533,620 bp from pter      End:
137,736,689 bp from pter
Size:
203,070 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: CO5A1_HUMAN, P20908 (See protein sequence)
Recommended Name: Collagen alpha-1(V) chain precursor  
Size: 1838 amino acids; 183560 Da
Subunit: Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one
alpha 2(V), and one alpha 3(V) chains in placenta. Interacts with CSPG4
2 PDB 3D structures from and Proteopedia for COL5A1:
1A89 (3D)        1A9A (3D)    
Secondary accessions: Q15094 Q5SUX4

Explore the universe of human proteins at neXtProt for COL5A1: NX_P20908

Explore proteomics data for COL5A1 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
  • Sulfated on 40% of tyrosines1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for COL5A1 (P20908)
     KSEGARI  VDAEGNPV 


    See COL5A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000084.3  NP_001265003.1  

    ENSEMBL proteins: 
     ENSP00000360882   ENSP00000360885  
    Reactome Protein details: P20908

    COL5A1 Human Recombinant Protein Products:

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    Novus Biologicals COL5A1 Proteins
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    Browse Sino Biological Cell Lysates
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    Search eBioscience for Proteins for COL5A1 

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    Abcam antibodies for COL5A1 (Q53WR4, P20908, P25940, P05997)
    Browse Antibodies at Cloud-Clone Corp.
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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for COL5A1 


    (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

    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 P20908

    ProtoNet protein and cluster: P20908

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


    UniProtKB/Swiss-Prot: CO5A1_HUMAN, P20908
    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 laminin G-like domain


    Find genes that share domains with COL5A1           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: CO5A1_HUMAN, P20908
    Function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective
    tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate,
    thrombospondin, heparin, and insulin

         Genatlas biochemistry entry for COL5A1:
    collagen type V,alpha 1,fibril forming,incorporated into,and contributing to regulate the shape and diameter of
    type I collagen fibrils;cleaved by BMP1 within the large globular N-propeptide

         Enzyme Numbers (IUBMB): EC 2.7.7.62 EC 6.1.12

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding NAS14970208
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005515protein binding ----
    GO:0008201heparin binding IDA2203476
    GO:0043394proteoglycan binding IPI9099729
         
    Find genes that share ontologies with COL5A1           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col5a1):
     cardiovascular system  embryogenesis  integument  mortality/aging 

    Find genes that share phenotypes with COL5A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col5a1tm1Rjw for COL5A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL5A1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL5A1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL5A1

    miRNA
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    miRTarBase miRNAs that target COL5A1:
    hsa-mir-744-5p (MIRT037642), hsa-mir-26b-5p (MIRT029467)

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    Selected qRT-PCR Assays for microRNAs that regulate COL5A1 (see all 60):
    hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-25 hsa-miR-3653 hsa-miR-192 hsa-miR-9 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidCOL5A1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for COL5A1
    Predesigned siRNA for gene silencing in human, mouse, rat COL5A1

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A1


    (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
    CO5A1_HUMAN, P20908: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    plasma membrane2
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005588collagen type V IMP9683580
    GO:0005604basement membrane IEA--
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with COL5A1           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 COL5A1 About   (see all 9)  
    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
    3Integrin 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
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with COL5A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL5A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL5A1
        Focal Adhesion

    Selected Reactome Pathways for COL5A1 (see all 10)
        Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation
    ECM proteoglycans


    5 Kegg Pathways  (Kegg details for COL5A1):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL5A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL5A1

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

    Selected Interacting proteins for COL5A1 (P209083 ENSP000003608824) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL5A3P259403, ENSP000002648284I2D: score=2 STRING: ENSP00000264828
    BMP1P134973, ENSP000003057144I2D: score=1 STRING: ENSP00000305714
    COL5A2P059973, ENSP000003640004I2D: score=1 STRING: ENSP00000364000
    DCNP075853, ENSP000000527544I2D: score=1 STRING: ENSP00000052754
    LGALS3BPQ083803, ENSP000002627764I2D: score=1 STRING: ENSP00000262776
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0003007heart morphogenesis IEA--
    GO:0007155cell adhesion IMP18305566
    GO:0007411axon guidance TAS--
    GO:0016477cell migration IMP18305566

    Find genes that share ontologies with COL5A1           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 COL5A1 (CO5A1)



    (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 COL5A1 gene (2 alternative transcripts): 
    NM_000093.4  NM_001278074.1  

    Unigene Cluster for COL5A1:

    Collagen, type V, alpha 1
    Hs.210283  [show with all ESTs]
    Unigene Representative Sequence: NM_000093
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371817(uc004cfe.3) ENST00000464187 ENST00000469093 ENST00000463925
    ENST00000460264 ENST00000371820 ENST00000465877
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL5A1 (see all 60):
    hsa-miR-513a-5p hsa-miR-128 hsa-miR-29a hsa-miR-25 hsa-miR-3653 hsa-miR-192 hsa-miR-9 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidCOL5A1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: COL5A1 (NM_000093)
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    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat COL5A1

    Additional mRNA sequence: 

    AB209864.1 AB371583.1 AK057231.1 AK122763.1 AK127662.1 BC008760.2 BC032405.1 D90279.1 

    11 DOTS entries:

    DT.99996465  DT.75182247  DT.100752152  DT.100791396  DT.95201693  DT.100791395  DT.100791398  DT.121201872 
    DT.121201926  DT.91742972  DT.95102872 

    Selected AceView cDNA sequences (see all 436):

    AA338172 BM141739 CB131438 BU615552 AA569038 AA328643 AI589135 CA419529 
    AW338260 AK057231 N66876 CN479942 AI364168 BQ181540 AI471524 BQ004319 
    CB216499 AA600068 CB152831 AA728771 AW771458 BF932500 AI754813 CA416480 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COL5A1 (see all 15)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                            -                                                                                                               
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b ^ 33 ^ 34a · 34b · 34c · 34d ^ 35a · 35b · 35c
    SP1:                                                                                                                                                
    SP2:                                                                                                                                                
    SP3:                                                                                      -     -     -     -                                       
    SP4:                                                                                                                                                
    SP5:                                                                                      -     -     -     -                                       


    ECgene alternative splicing isoforms for COL5A1

    (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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    COL5A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCAGCCC
    COL5A1 Expression
    About this image


    COL5A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Heart (Cardiovascular System)
             Subepicardial Cells Epicardium
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Endothelium (Cardiovascular System)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    COL5A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL5A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.210283
        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL5A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL5A1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A1

    (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 chordates.

    Orthologs for COL5A1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col5a11 , 5 collagen, type V, alpha 11, 5 85.84(n)1
    93.13(a)1
      2 (19.38 cM)5
    128311  NM_015734.21  NP_056549.21 
     278864255 
    chicken
    (Gallus gallus)
    Aves COL5A11 collagen, type V, alpha 1 77.12(n)
    88.4(a)
      395568  NM_204790.1  NP_990121.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL5A16
    collagen, type V, alpha 1
    87(a)
    1 ↔ 1
    LGg(41249-183688)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC059289.12   -- 76.81(n)    BC059289.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.177752 Transcribed sequence with moderate similarity to protein more 79.14(n)    BQ092456.1 


    ENSEMBL Gene Tree for COL5A1 (if available)
    TreeFam Gene Tree for COL5A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL5A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    12 SIMAP similar genes for COL5A1 using alignment to 5 protein entries:     CO5A1_HUMAN (see all proteins):
    COL11A1    COL11A2    COL5A3    COL2A1    COL1A1    GLDN
    C1QTNF9    C1QTNF9B    COL5A2    SFTPD    COL3A1    FCN2

    Find genes that share paralogs with COL5A1           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 COL5A1 (see all 5975)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617350451,2,,4
    C,FEhlers-Danlos syndrome 2 (EDS2)4 pathogenic1137642654(+) GTGGCG/AGCGAT 6 /S /G mis14Minor allele frequency- A:0.03NS NA EU 5835
    VAR_0018084
    Ehlers-Danlos syndrome 1 (EDS1)4--see VAR_0018082 C S mis40--------
    VAR_0579024
    Ehlers-Danlos syndrome 2 (EDS2)4--see VAR_0579022 L P mis40--------
    VAR_0154134
    Ehlers-Danlos syndrome 1 (EDS1)4--see VAR_0154132 G D mis40--------
    VAR_0579034
    Ehlers-Danlos syndrome 2 (EDS2)4--see VAR_0579032 L R mis40--------
    VAR_0579094
    Ehlers-Danlos syndrome 2 (EDS2)4--see VAR_0579092 G C mis40--------
    rs803387641,2
    Cpathogenic1137716663(+) CACCTC/GCAAGG 6 S C mis10--------
    rs625713221,2
    F--137531808(+) TGGCTG/CTGAGT 2 -- us2k12Minor allele frequency- C:0.04NA 122
    rs1399466701,2
    --137531843(+) CGGATA/GTGCAC 2 -- us2k10--------
    rs1115572481,2
    C,F--137531872(+) AACTCC/TACTTG 2 -- us2k12Minor allele frequency- T:0.02CSA WA 119

    HapMap Linkage Disequilibrium report for COL5A1 (137533620 - 137736689 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL5A1 (see all 42):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743401CNV Deletion23290073
    esv1302373CNV Deletion17803354
    esv2739238CNV Deletion23290073
    esv2739237CNV Deletion23290073
    esv1304752CNV Deletion17803354
    esv2739235CNV Deletion23290073
    esv2739247CNV Deletion23290073
    esv2739244CNV Deletion23290073
    esv2739246CNV Deletion23290073
    esv2739234CNV Deletion23290073

    Human Gene Mutation Database (HGMD): COL5A1
    Locus Specific Mutation Databases (LSDB): COL5A1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL5A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL5A1

    (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.)
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    OMIM gene information: 120215   
    OMIM disorders: 130010  130000  
    UniProtKB/Swiss-Prot: CO5A1_HUMAN, P20908
  • 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 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 9 diseases for COL5A1:    
    About MalaCards
    ehlers-danlos syndrome, classic type, col5a1-related    annular pancreas    duodenal atresia    type i ehlers-danlos syndrome
    tendinopathy    ehlers?Óˇdanlos syndrome classical type    familial cervical artery dissections    nail-patella syndrome
    ehlers-danlos syndrome

    2 diseases from the University of Copenhagen DISEASES database for COL5A1:
    Ehlers-Danlos syndrome     nail-patella syndrome

    Find genes that share disorders with COL5A1           About GenesLikeMe

    7 Novoseek inferred disease relationships for COL5A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehlers-danlos syndrome, type i 95.5 8 8923000 (3), 9042913 (2), 10796876 (1), 12145749 (1)
    ehlers-danlos syndrome, type ii 94.5 7 8541855 (2), 7759113 (2), 9042913 (1), 9683580 (1)
    ehlers-danlos syndrome 92.5 12 9499606 (2), 8950675 (1), 9042913 (1), 16431952 (1) (see all 11)
    nail-patella syndrome 83.7 7 8462976 (2), 7759113 (2), 8154501 (1), 1572660 (1)
    connective tissue diseases 70.7 1 8462976 (1)
    collagen fibril 61.7 1 10777716 (1)
    genetic disorder 48.1 1 1572660 (1)

    GeneTests: COL5A1
    GeneReviews: COL5A1
    Genetic Association Database (GAD): COL5A1
    Human Genome Epidemiology (HuGE) Navigator: COL5A1 (23 documents)

    Export disorders for COL5A1 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 COL5A1 gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with COL5A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The COL5A1 gene and Achilles tendon pathology. (PubMed id 16430677)1, 4, 9 Mokone G.G....Collins M. (amp 2006)
    2. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. (PubMed id 19654427)1, 4, 9 Posthumus M....Collins M. (Am J Sports Med 2009)
    3. Variants within the MMP3 gene are associated with Achilles tendinopathy: possible interaction with the COL5A1 gene. (PubMed id 19042922)1, 4, 9 Raleigh S.M....Collins M. (Br J Sports Med 2009)
    4. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. (PubMed id 9042913)1, 2, 9 de Paepe A....Naeyaert J.-M. (Am. J. Hum. Genet. 1997)
    5. Variants within the COL5A1 gene are associated with Achilles tendinopathy in two populations. (PubMed id 18443036)1, 4, 9 September A.V....Collins M. (Br J Sports Med 2009)
    6. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. (PubMed id 18972565)1, 2, 9 Symoens S.... De Paepe A. (Hum. Mutat. 2009)
    7. Compound heterozygosity for a disease-causing G1489E and disease- modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? (PubMed id 10602121)1, 2, 9 Giunta C. and Steinmann B. (Am. J. Med. Genet. 2000)
    8. Human collagen gene COL5A1 maps to the q34.2----q34.3 region of chromosome 9, near the locus for nail-patella syndrome. (PubMed id 1572660)1, 3, 9 Greenspan D.S....Shows T.B. (Genomics 1992)
    9. Investigation of the Sp1-binding site polymorphism within the COL1A1 gene in participants with Achilles tendon injuries and controls. (PubMed id 18353721)1, 4, 9 Posthumus M....Collins M. (J Sci Med Sport 2009)
    10. Joint influence of small-effect genetic variants on human longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (Aging (Albany NY) 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1289 HGNC: 2209 AceView: COL5A1 Ensembl:ENSG00000130635 euGenes: HUgn1289
    ECgene: COL5A1 Kegg: 1289 H-InvDB: COL5A1

    (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 COL5A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL5A1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL5A1 gene:
    Search GeneIP for patents involving COL5A1

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



    (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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