Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

COL5A1 Gene

protein-coding   GIFtS: 64
GCID: GC09P137533

Collagen, Type V, Alpha 1

  See related diseases
at  

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

Aliases
Collagen, Type 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 incontinentia pigmenti achromians, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_019501.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL5A1

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
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:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: Sulfated on 40% of tyrosines
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20908

  • 2 DME Specific Peptides for COL5A1 (P20908)
     KSEGARI  VDAEGNPV 

    COL5A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL5A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000084.3  NP_001265003.1  

    ENSEMBL proteins: 
     ENSP00000360882   ENSP00000360885  
    Reactome Protein details: P20908
    Human Recombinant Protein Products for COL5A1: 
    EMD Millipore Purified and/or Recombinant COL5A1 Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for COL5A1
    GenScript Custom Purified and Recombinant Proteins Services for COL5A1
    Novus Biologicals COL5A1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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--

    COL5A1 for ontologies           About GeneDecksing



    COL5A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL5A1
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for COL5A1
    GenScript Custom Superior Antibodies Services for COL5A1
    Novus Biologicals COL5A1 Antibodies
    Abcam antibodies for COL5A1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for COL5A1
    LSBio Antibodies in human, mouse, rat for COL5A1 

    Assay Products for COL5A1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COL5A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COL5A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

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

    Graphical View of Domain Structure for InterPro Entry 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


    COL5A1 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 5/7 molecular function terms (GO ID links to tree view) (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
         
    COL5A1 for ontologies           About GeneDecksing


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

    COL5A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col5a1tm1Rjw for COL5A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL5A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL5A1

       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
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A1
    8/60 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL5A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL5A1
    Sirion Biotech Customized adenovirus for overexpression of COL5A1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for COL5A1 (see all 5)
    OriGene ORF clones in mouse, rat for COL5A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL5A1 (NM_000093)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL5A1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COL5A1
    Search LifeMap BioReagents cell lines for COL5A1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A1


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

    SuperPaths for COL5A1 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM-receptor interaction0.42
    Syndecan interactions0.44
    ECM proteoglycans0.38
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for 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

    5/18        Reactome Pathways for COL5A1 (see all 18)
        Syndecan interactions
    Developmental Biology
    Assembly of collagen fibrils and other multimeric structures
    ECM proteoglycans
    Extracellular matrix organization


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


    COL5A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL5A1

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

    5/76 Interacting proteins for COL5A1 (P209083 ENSP000003608824) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    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): 5/17 biological process terms (GO ID links to tree view) (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

    COL5A1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for COL5A1 (CO5A1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A1
    8/60 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL5A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A1
    Clone
    Products:
         
    OriGene clones in human, mouse for COL5A1 (see all 5)
    OriGene ORF clones in mouse, rat for COL5A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL5A1 (NM_000093)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL5A1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for COL5A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL5A1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A1
      QIAGEN 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 

    24/436 AceView cDNA sequences (see all 436):

    AI694164 BQ181286 AI042290 CB152831 AW080473 AI961995 BQ222937 AA347234 
    AA505346 AI203980 C01957 AI754813 AA804921 AW662100 AA600089 BQ026771 
    BQ004319 AI243887 BQ181540 AI457783 CN484731 BU184621 AA600068 AA328643 

    GeneLoc Exon Structure

    5/15 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL5A1 expression in normal human tissues (normalized intensities)      COL5A1 embryonic expression: see
    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 
     5/16 selected tissues (see all 16) fully expand
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Subepicardial Cells Epicardium
             Cardiac Myocytes   
     
     Peripheral Nervous System (Nervous System)
             Human Perineurial Cells (HPC)   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow

    See COL5A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL5A1

    SOURCE GeneReport for Unigene cluster: Hs.210283
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL5A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL5A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL5A1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL5A1
    In Situ
    Assay Products:
     

     
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL5A1 gene from 5/13 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 87(n)1
    95.03(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 77.67(n)
    89.16(a)
      395568  NM_204790.1  NP_990121.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL5A16
    Uncharacterized protein
    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)
    About This Section
    Paralogs for COL5A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    11 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    FCN2

    COL5A1 for paralogs           About GeneDecksing



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

    10/5975 SNPs in COL5A1 are shown (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
    ----------
    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--------
    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
    rs803387641,2
    Cpathogenic1137716663(+) CACCTC/GCAAGG 6 S C mis10--------
    VAR_0647024
    ----see VAR_0647022 P L mis40--------
    VAR_0579074
    ----see VAR_0579072 P S mis40--------
    VAR_0579044
    ----see VAR_0579042 A D mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/42 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 15 diseases for COL5A1:    About MalaCards
    ehlers-danlos syndrome, classic type, col5a1-related    incontinentia pigmenti achromians    nail-patella syndrome    arterial tortuosity syndrome
    ehlers-danlos syndrome    cervical incompetence    hereditary hemorrhagic telangiectasia    hypertrophic scars
    connective tissue disease    tuberous sclerosis    was-related disorders    bronchiolitis
    leiomyoma    cervicitis    endotheliitis

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

    COL5A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for COL5A1 gene, integrated from 9 sources (see all 137):
    (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. (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. (2009)
    3. Variants within the MMP3 gene are associated with Ach illes tendinopathy: possible interaction with the COL5A1 gene. (PubMed id 19042922)1, 4, 9 Raleigh S.M....Collins M. (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. (1997)
    5. 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. (2009)
    6. Variants within the COL5A1 gene are associated with achilles tendinopathy in two populations. (PubMed id 18443036)1, 4, 9 September A.V....Collins M. (2008)
    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. (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. (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. (2008)
    10. Joint influence of small-effect genetic variants on h uman longevity. (PubMed id 20834067)1, 4 Yashin A.I....Ukraintseva S.V. (2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1289 HGNC: 2209 AceView: COL5A1 Ensembl:ENSG00000130635 euGenes: HUgn1289
    ECgene: COL5A1 Kegg: 1289 H-InvDB: COL5A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL5A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL5A1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of COL5A1
     Browse Small Molecules at EMD Millipore
     EMD Millipore Purified and/or Recombinant COL5A1 Protein
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for COL5A1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for COL5A1  
     OriGene qSTAR qPCR primer pairs in human, mouse for COL5A1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for COL5A1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COL5A1   OriGene Custom Protein Services for COL5A1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL5A1
     QIAGEN SeqTarget long-range PCR primers for resequencing COL5A1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL5A1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL5A1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL5A1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL5A1
     GenScript Custom Purified and Recombinant Proteins Services for COL5A1 GenScript cDNA clones with any tag delivered in your preferred vector for COL5A1
     GenScript Custom Assay Services for COL5A1 GenScript Custom Superior Antibodies Services for COL5A1
     GenScript Custom overexpressing Cell Line Services for COL5A1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in COL5A1 promoter
     Search Chromatin IP Primers for COL5A1
     RT2 qPCR Primer Assay in human, mouse, rat COL5A1
     Search GNC Networks for COL5A1
     SABiosciences PCR Arrays including human, mouse, rat COL5A1
     Search Tocris compounds for COL5A1 (CO5A1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     COL5A1 antibodies
     COL5A1 proteins
     Antibodies for COL5A1
     See all of Abcam's Antibodies, Kits and Proteins for COL5A1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for COL5A1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A1
     SwitchGear 3'UTR luciferase reporter plasmids for COL5A1
     SwitchGear Promoter luciferase reporter plasmids for COL5A1
     ThermoFisher Antibody for COL5A1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL5A1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for COL5A1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL5A1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression of COL5A1
     LSBio Antibodies in human, mouse, rat for COL5A1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      COL5A1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4