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

COL4A1 Gene

protein-coding   GIFtS: 70
GCID: GC13M110801

Collagen, Type IV, 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)
About This Section

Aliases
Collagen, Type IV, Alpha 11 2     Collagen Alpha-1(IV) Chain2
HANAC2     Collagen IV, Alpha-1 Polypeptide2
ICH2     Collagen Of Basement Membrane, Alpha-1 Chain2
POREN12     EC 3.4.238
arresten2     EC 6.3.1.28
COL4A1 NC1 Domain2     

External Ids:    HGNC: 22021   Entrez Gene: 12822   Ensembl: ENSG000001874987   OMIM: 1201305   UniProtKB: P024623   

Export aliases for COL4A1 gene to outside databases

Previous GC identifers: GC13M109161 GC13M105188 GC13M109638 GC13M108499 GC13M109599 GC13M091400


(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 COL4A1 Gene:
This gene encodes the major type IV alpha collagen chain of basement membranes. Like the other members of the type
IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene
so that each gene pair shares a common promoter. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL4A1 Gene: 
COL4A1 (collagen, type IV, alpha 1) is a protein-coding gene. Diseases associated with COL4A1 include porencephaly, and col4a1-related disorders, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include platelet-derived growth factor binding and extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462
Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
Function: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The
C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell
proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2
and p38 MAPK activation. Ligand for alpha1/beta1 integrin

Gene Wiki entry for COL4A1 (Collagen, type IV, 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_000013.10  NC_018924.2  NT_009952.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL4A1 gene promoter:
         HOXA9B   HOXA9   AREB6   SREBP-1c   Sox9   Meis-1a   MIF-1   LyF-1   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL4A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL4A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL4A1


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

COL4A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A1 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M110801:  view genomic region     (about GC identifiers)

Start:
110,801,310 bp from pter      End:
110,959,496 bp from pter
Size:
158,187 bases      Orientation:
minus strand

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

UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462 (See protein sequence)
Recommended Name: Collagen alpha-1(IV) chain precursor  
Size: 1669 amino acids; 160615 Da
Subunit: There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix
structure with 2 other chains to generate type IV collagen network
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
1 PDB 3D structure from and Proteopedia for COL4A1:
1LI1 (3D)    
Secondary accessions: A7E2W4 B1AM70 Q1P9S9 Q5VWF6 Q86X41 Q8NF88 Q9NYC5
Alternative splicing: 2 isoforms:  P02462-1   P02462-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL4A1: NX_P02462

Explore proteomics data for COL4A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Lysines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in all cases and bind
    carbohydrates
  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide
    bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens
  • UniProtKB: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues
  • UniProtKB: Proteolytic processing produces the C-terminal NC1 peptide, arresten
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02462

  • 2 DME Specific Peptides for COL4A1 (P02462)
     VTGLVGI  GFPGPQG 

    COL4A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A1 Protein Expression
    REFSEQ proteins: NP_001836.2  
    ENSEMBL proteins: 
     ENSP00000364979   ENSP00000443348  
    Reactome Protein details: P02462
    Human Recombinant Protein Products for COL4A1: 
    EMD Millipore Purified and/or Recombinant COL4A1 Protein
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals COL4A1 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:0005587collagen type IV IEA--
    GO:0005604basement membrane ----
    GO:0005788endoplasmic reticulum lumen TAS--

    COL4A1 for ontologies           About GeneDecksing



    COL4A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL4A1
    R&D Systems Antibodies for COL4A1 (Collagen IV alpha 1)
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    Novus Biologicals COL4A1 Antibodies
    Abcam antibodies for COL4A1
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    ThermoFisher Antibody for COL4A1
    LSBio Antibodies in human, mouse, rat for COL4A1 

    Assay Products for COL4A1: 
    EMD Millipore Kits and Assays for the Analysis of COL4A1
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    GenScript Custom Assay Services for COL4A1
    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

    3 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR001442 Collagen_VI_NC
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P02462

    ProtoNet protein and cluster: P02462

    3 Blocks protein domains:
    IPB001442 Type 4 procollagen
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462
    Domain: Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent
    interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the
    triple helix), and a short N-terminal triple-helical 7S domain
    Similarity: Belongs to the type IV collagen family
    Similarity: Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain


    COL4A1 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: CO4A1_HUMAN, P02462
    Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
    'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
    Function: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The
    C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell
    proliferation, migration and tube formation. Inhibits expression of hypoxia-inducible factor 1alpha and ERK1/2
    and p38 MAPK activation. Ligand for alpha1/beta1 integrin

         Genatlas biochemistry entry for COL4A1:
    collagen type IV,alpha 1,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin
    development

         Enzyme Numbers (IUBMB): EC 3.4.232 EC 6.3.1.22

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005515protein binding IPI12011424
    GO:0048407platelet-derived growth factor binding IDA8900172
         
    COL4A1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COL4A1:
     Increased cell death HMECs cel 

         14 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Col4a1):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     other  renal/urinary system  reproductive system  vision/eye 

    COL4A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col4a1/Col4a2Col4a1/tm1Epo for COL4A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL4A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL4A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL4A1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL4A1:
    hsa-mir-29a (MIRT003221), hsa-mir-29b (MIRT005568), hsa-mir-29c (MIRT001927)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL4A1
    8/68 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A1 (see all 68):
    hsa-miR-100* hsa-miR-3152-3p hsa-miR-106a hsa-miR-3653 hsa-miR-3142 hsa-miR-93 hsa-miR-556-3p hsa-miR-490-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOL4A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL4A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL4A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL4A1
    Sirion Biotech Customized adenovirus for overexpression of COL4A1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for COL4A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL4A1 (NM_001845)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL4A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL4A1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for COL4A1
    LifeMap BioReagents: cell line associated with COL4A1: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A1


    (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 COL4A1 About   (see all 26)                                                                                              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 proteoglycans0.38
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    5Integrin 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for COL4A1 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation
    Cell adhesion Plasmin signaling

    1 R&D Systems Pathway for COL4A1
        Blood Coagulation Signaling Pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL4A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A1
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion ECM remodeling
    Cell adhesion Plasmin signaling

    2 BioSystems Pathways for COL4A1
        Focal Adhesion
    Spinal Cord Injury

    5/18        Reactome Pathways for COL4A1 (see all 18)
        Developmental Biology
    Assembly of collagen fibrils and other multimeric structures
    Anchoring fibril formation
    ECM proteoglycans
    Extracellular matrix organization

    1 PharmGKB Pathway for COL4A1
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for COL4A1) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL4A1

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

    5/98 Interacting proteins for COL4A1 (P024621, 2, 3 ENSP000003649794) via UniProtKB, MINT, STRING, and/or I2D (see all 98)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL4A2P085721, 3, ENSP000003536544EBI-2432478,EBI-2432506 I2D: score=5 STRING: ENSP00000353654
    COCHO434052, 3, ENSP000002163614MINT-6796166 I2D: score=1 STRING: ENSP00000216361
    ACHEP223033, ENSP000003032114I2D: score=2 STRING: ENSP00000303211
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    FBLN2P980953, ENSP000003841694I2D: score=2 STRING: ENSP00000384169
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0007411axon guidance TAS--
    GO:0007528neuromuscular junction development IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    COL4A1 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

    COL4A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL4A1 (CO4A1)

    2 Novoseek inferred chemical compound relationships for COL4A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arresten 93.3 6 10811134 (4), 18775695 (1), 16151532 (1)
    tyrosine 0 2 17638901 (1), 9027485 (1)

    Search CenterWatch for drugs/clinical trials and news about COL4A1 / CO4A1

    (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 COL4A1 gene: 
    NM_001845.4  

    Unigene Cluster for COL4A1:

    Collagen, type IV, alpha 1
    Hs.17441  [show with all ESTs]
    Unigene Representative Sequence: NM_001845
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375820(uc001vqw.4) ENST00000467182 ENST00000474391 ENST00000543140


    miRNA
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    hsa-miR-100* hsa-miR-3152-3p hsa-miR-106a hsa-miR-3653 hsa-miR-3142 hsa-miR-93 hsa-miR-556-3p hsa-miR-490-3p
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL4A1

    Additional mRNA sequence: 

    AB209646.1 AF258349.1 AF363672.1 AF400431.1 AF536207.1 AY285780.1 BC047305.1 BC142626.1 
    BC151220.1 DQ464183.1 EU260121.1 M10940.1 M10941.1 M11315.1 X03963.1 X05561.1 
    Y00706.1 

    23 DOTS entries:

    DT.452612  DT.100686990  DT.100796389  DT.100796397  DT.95242820  DT.402672  DT.95242796  DT.100796390 
    DT.120766951  DT.100030647  DT.100796398  DT.102838671  DT.121627343  DT.85104942  DT.86855614  DT.95185880 
    DT.95258962  DT.97784947  DT.99958932  DT.40123811  DT.91759496  DT.95177824  DT.97809583 

    24/685 AceView cDNA sequences (see all 685):

    NM_001845 CA446658 BI491946 AW014980 AI922296 AI755238 AW273358 BU677787 
    AA678230 BQ084460 AI913166 CA425542 BU689514 BQ880964 BU627180 AI373091 
    AI951133 BM714951 AW469332 AU137927 R97029 CN479995 BU781627 N71638 

    GeneLoc Exon Structure


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

    COL4A1 expression in normal human tissues (normalized intensities)      COL4A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCGCAGGA
    COL4A1 Expression
    About this image


    COL4A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Heart (Cardiovascular System)    fully expand to see all 8 entries
             Subepicardial Cells Epicardium
             Coronary Vessels
             heart/atrium   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Choroid Plexus
             Human Brain Vascular Pericyte (HBVP)   
             ganglion/cranial   
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
             limb/hindlimb   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
             mouse/organ system/cardiovascular system   

    See COL4A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A1

    SOURCE GeneReport for Unigene cluster: Hs.17441

    UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462
    Tissue specificity: Highly expressed in placenta

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL4A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Wound Healing in human mouse rat
              Hepatotoxicity in human mouse rat

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    (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 animals.

    Orthologs for COL4A1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a11 , 5 collagen, type IV, alpha 11, 5 83.48(n)1
    90.71(a)1
      8 (5.53 cM)5
    128261  NM_009931.21  NP_034061.21 
     111984235 
    chicken
    (Gallus gallus)
    Aves COL4A11 collagen, type IV, alpha 1 69.84(n)
    74.62(a)
      395530  NM_001162399.1  NP_001155871.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A16
    collagen, type IV, alpha 1
    70(a)
    1 ↔ 1
    1(137145643-137277961)
    zebrafish
    (Danio rerio)
    Actinopterygii col4a11 collagen, type IV, alpha 1 61.41(n)
    63.77(a)
      554269  XM_688948.5  XP_694040.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C3 dorsal closure 41(a)   25C1   --
    worm
    (Caenorhabditis elegans)
    Secernentea let-23 alpha-2 type IV collagen 66(a)   X(16411823-16420128)   --


    ENSEMBL Gene Tree for COL4A1 (if available)
    TreeFam Gene Tree for COL4A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A1 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  
    COL11A12  
    8 SIMAP similar genes for COL4A1 using alignment to 3 protein entries:     CO4A1_HUMAN (see all proteins):
    COL4A5    COL4A3    COL4A2    MSR1    COL4A6    C1QTNF9
    C1QTNF9B    COL4A4

    COL4A1 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

    10/4204 SNPs in COL4A1 are shown (see all 4204)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0644984
    Brain small vessel disease with hemorrhage (BSVDH)4--see VAR_0644982 G R mis40--------
    VAR_0300314
    Porencephaly 1 (POREN1)4--see VAR_0300312 G R mis40--------
    VAR_0644964
    Brain small vessel disease with hemorrhage (BSVDH)4--see VAR_0644962 G D mis40--------
    VAR_0441594
    Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)4--see VAR_0441592 G V mis40--------
    VAR_0644944
    Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)4--see VAR_0644942 G R mis40--------
    VAR_0644934
    Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)4--see VAR_0644932 G R mis40--------
    VAR_0644994
    Porencephaly 1 (POREN1)4--see VAR_0644992 G R mis40--------
    VAR_0441614
    Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC)4--see VAR_0441612 G E mis40--------
    VAR_0300324
    Porencephaly 1 (POREN1)4--see VAR_0300322 G R mis40--------
    VAR_0644974
    Brain small vessel disease with hemorrhage (BSVDH)4--see VAR_0644972 G R mis40--------

    HapMap Linkage Disequilibrium report for COL4A1 (110801310 - 110959496 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for COL4A1 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2748002CNV Deletion23290073
    esv2748003CNV Deletion23290073
    esv2748001CNV Deletion23290073
    esv1710742CNV Deletion17803354
    esv3081CNV Deletion18987735
    esv2748000CNV Deletion23290073
    esv2741067CNV Deletion23290073
    nsv1182CNV Loss18451855
    nsv64357CNV Loss16902084
    nsv456115CNV Loss19166990


    Human Gene Mutation Database (HGMD): COL4A1
    SABiosciences Cancer Mutation PCR Assays
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    (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: 120130   
    OMIM disorders: 175780  607595  611773  
    UniProtKB/Swiss-Prot: CO4A1_HUMAN, P02462
  • Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595]: Brain small vessel diseases underlie 20
    to 30 percent of ischemic strokes and a larger proportion of intracerebral hemorrhages. Inheritance is autosomal
    dominant. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773]: The clinical
    renal manifestations include hematuria and bilateral large cysts. Histologic analysis revealed complex basement
    membrane defects in kidney and skin. The systemic angiopathy appears to affect both small vessels and large
    arteries. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Porencephaly 1 (POREN1) [MIM:175780]: A neurologic disorder characterized by a fluid-filled cysts or
    cavities within the cerebral hemispheres, neurologic manifestations, facial paresis, and visual defects. Affected
    individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 1 is usually
    unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/52 diseases for COL4A1 (see all 52):    About MalaCards
    porencephaly    col4a1-related disorders    malignant cylindroma    hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
    autosomal dominant type 1 porencephaly    familial porencephaly    brain small vessel disease with hemorrhage    autosomal recessive alport syndrome
    goodpasture syndrome    alport syndrome    hydranencephaly    thin basement membrane nephropathy
    arachnoid cysts    walker-warburg syndrome    cerebral hemorrhage    hemiplegia
    arachnoiditis    intracranial aneurysm    aggressive periodontitis    leukoplakia

    2 diseases from the University of Copenhagen DISEASES database for COL4A1:
    Alport syndrome     pseudo-TORCH syndrome

    COL4A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for COL4A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    porencephaly 82.4 4 19238787 (1), 17379824 (1), 19194877 (1)
    intracerebral hemorrhage 47.9 4 19238787 (1), 19194877 (1)
    neovascularization 35.1 1 10811134 (1)
    renal disease 31.9 4 19238787 (1), 18160688 (1), 9047092 (1)
    diabetic nephropathies 23.7 2 9047092 (2)

    GeneTests: COL4A1
    GeneReviews: COL4A1
    Genetic Association Database (GAD): COL4A1
    Human Genome Epidemiology (HuGE) Navigator: COL4A1 (16 documents)

    Export disorders for COL4A1 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 COL4A1 gene, integrated from 9 sources (see all 175):
    (articles sorted by number of sources associating them with COL4A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete primary structure of the alpha 1-chain of human basement membrane (type IV) collagen. (PubMed id 3691802)1, 2, 3 Soininen R.... Tryggvason K. (1987)
    2. COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage. (PubMed id 19194877)1, 2, 9 de Vries L.S....Mancini G. (2009)
    3. COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. (PubMed id 18160688)1, 2, 9 Plaisier E....Ronco P. (2007)
    4. Genetic risk for myocardial infarction determined by polymorphisms of candidate genes in a Japanese population. (PubMed id 18077766)1, 4, 9 Yamada Y....Nozawa Y. (2008)
    5. Anti-angiogenic cues from vascular basement membrane collagen. (PubMed id 10811134)1, 2, 9 Colorado P.C.... Kalluri R. (2000)
    6. Characterization of the anti-angiogenic properties of arresten, an alpha1beta1 integrin-dependent collagen-derived tumor suppressor. (PubMed id 18775695)1, 2, 9 Nyberg P.... Kalluri R. (2008)
    7. Human alpha1 type IV collagen NC1 domain exhibits distinct antiangiogenic activity mediated by alpha1beta1 integrin. (PubMed id 16151532)1, 2, 9 Sudhakar A.... Kalluri R. (2005)
    8. Sequence variants in COL4A1 and COL4A2 genes in Ecuad orian families with keratoconus. (PubMed id 21527998)1, 2 Karolak J.A....Gajecka M. (2011)
    9. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (2011)
    10. Genome-wide association study for coronary artery calc ification with follow-up in myocardial infarction. (PubMed id 22144573)1, 4 O'Donnell C.J....Witteman J.C. (2011)

    (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: 1282 HGNC: 2202 AceView: COL4A1 Ensembl:ENSG00000187498 euGenes: HUgn1282
    ECgene: COL4A1 Kegg: 1282 H-InvDB: COL4A1

    (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 COL4A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL4A1 gene:
    Search GeneIP for patents involving COL4A1

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



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    About This Section

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