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    COL4A1 collagen, type IV, alpha 1 [ Homo sapiens ]

    Gene ID: 1282, updated on 19-May-2012
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    Summary

    Official Symbol
    COL4A1provided by HGNC
    Official Full Name
    collagen, type IV, alpha 1provided by HGNC
    Primary source
    HGNC:2202
    See related
    Ensembl:ENSG00000187498; HPRD:00359; MIM:120130; Vega:OTTHUMG00000017342
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HANAC; POREN1; arresten
    Summary
    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]
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    Genomic context

    Location :
    13q34
    Sequence :
    Chromosome: 13; NC_000013.10 (110801310..110959496, complement)
    See COL4A1 in Epigenomics, MapViewer

    Chromosome 13 - NC_000013.10Genomic Context describing neighboring genes Neighboring gene myosin XVI Neighboring gene insulin receptor substrate 2 Neighboring gene collagen, type IV, alpha 2 Neighboring gene COL4A2 antisense RNA 2 (non-protein coding) Neighboring gene RAB20, member RAS oncogene family

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. p53 inhibits angiogenesis by inducing the production of Arresten. Assadian S, et al. Cancer Res, 2012 Mar 1. PMID 22253229.
    2. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Jeanne M, et al. Am J Hum Genet, 2012 Jan 13. PMID 22209247.
    3. COL4A1 mutations associated with a characteristic pattern of intracranial calcification. Livingston J, et al. Neuropediatrics, 2011 Dec. PMID 22134833.
    4. Proteomic dissection of the von Hippel-Lindau (VHL) interactome. Lai Y, et al. J Proteome Res, 2011 Nov 4. PMID 21942715.
    5. Collagen IV-derived peptide binds hydrophobic cavity of Legionella pneumophila Mip and interferes with bacterial epithelial transmigration. Ünal C, et al. Cell Microbiol, 2011 Oct. PMID 21794054.

    See all (120) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. p53 directly activated transcription of the COL4A1 gene by binding to an enhancer region m of its 3' end.
      Title: p53 inhibits angiogenesis by inducing the production of Arresten.
    2. article describes 5 patients demonstrating intracranial calcification in whom a COL4A1 mutation has been identified.
      Title: COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
    3. The data suggested that COL4A2 mutations impair COL4A1 and COL4A2 secretion and can also result in cytotoxicity. The findings also suggested that, collectively, mutations in COL4A1 and COL4A2 contribute to sporadic cases of intracerebral hemorrhage.
      Title: COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
    4. The corresponding human collagen IV-derived peptide (P290) co-precipitated with Legionella pneumophila Mip and competitively inhibited the Mip-collagen IV binding.
      Title: Collagen IV-derived peptide binds hydrophobic cavity of Legionella pneumophila Mip and interferes with bacterial epithelial transmigration.
    5. study describes 2 infants with a COL4A1 mutation and fetal intracerebral hemorrhages with posthemorrhagic ventricular dilatation on their fetal MRI
      Title: Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
    6. identified putative heterozygous mutations in COL4A1 in two Muscle-eye-brain disease/Walker-Warburg syndrome patients
      Title: COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
    7. Screening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes in keratoconus patients. None of the identified sequence variants completely segregated with the affected keratoconus phenotype.
      Title: Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
    8. review dsecribes the clinical spectrum of a newly identified disorder related to COL4A1 gene mutations; COL4A1 disorder is probably largely underestimated because of its multisystem and variable phenotype [review]
      Title: Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease.
    9. Sporadic COL4A1 mutations are associated with sporadic severe antenatal hemorrhagic stroke resembling hydranencephaly.
      Title: Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly.
    10. The restricted distribution of COL4A1 mutations within the CB3[IV] region is a characteristic of the reports of patients with hereditary angiopathy, aephropathy, aneurysms, and cramps.
      Title: Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.
    Submit: New GeneRIF Correction See all (47)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Angiopathy, hereditary, with nephropathy, aneurysms, and muscle

    Brain small vessel disease with Axenfeld-Rieger anomaly

    Brain small vessel disease with hemorrha, hemorrhage

    COL4A1 is associated with arterial stiffness by genome-wide association scan.

    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

    Porencephaly 1

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P02462 P22303 ACHE    HPRD  PubMed  
    P02462 P02743 APCS    HPRD  PubMed  
    P02462 P05067 APP    HPRD  PubMed  
    P02462 P12645 BMP3    HPRD  PubMed  
    P02462 Q9NPY3 CD93    HPRD  PubMed  
    P02462 P02462 COL4A1    HPRD  PubMed  
    P02462 P08572 COL4A2    HPRD  PubMed  
    P02462 Q02388 COL7A1    HPRD  PubMed  
    P02462 P07585 DCN    HPRD  PubMed  
    P02462 P98095 FBLN2    HPRD  PubMed  
    P02462 P02751 FN1    HPRD  PubMed  
    P02462 Q14520 HABP2    HPRD  PubMed  
    P02462 O00339 MATN2    HPRD  PubMed  
    P02462 P14780 MMP9    HPRD  PubMed  
    P02462 P14543 NID1    HPRD  PubMed  
    P02462 P13725 OSM    HPRD  PubMed  
    P02462 P02735 SAA1    HPRD  PubMed  
    P02462 Serum Amyloid A1 SAA1    HPRD  PubMed  
    P02462 P35542 SAA4    HPRD  PubMed  
    P02462 P07093 SERPINE2    HPRD  PubMed  
    P02462 Q15797 SMAD1    HPRD  PubMed  
    P02462 Q15582 TGFBI    HPRD  PubMed  
    BioGRID:107679 BioGRID:107679 COL4A1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107679 BioGRID:107681 COL4A2    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107679 BioGRID:107691 COL7A1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:118061 DISC1    BioGRID  PubMed Two-hybrid 
    BioGRID:107679 BioGRID:205897 Igfbp7    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107679 BioGRID:110273 MAG    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:110876 NID1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:116476 NID2    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:201770 Nid1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:112915 THBS1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107679 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:107679 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IEA
    Inferred from Electronic Annotation
    more info
    		  
    platelet-derived growth factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen type IV IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    collagen alpha-1(IV) chain
    Names
    collagen alpha-1(IV) chain
    COL4A1 NC1 domain
    collagen IV, alpha-1 polypeptide
    collagen of basement membrane, alpha-1 chain
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011544.1 RefSeqGene

      Range
      5001..163187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001845.4 → NP_001836.2  collagen alpha-1(IV) chain preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL390755, BC047305, BU677787, CD613007, CN256264, X03963, Y00706
      Consensus CDS
      CCDS9511.1
      UniProtKB/Swiss-Prot
      P02462
      Related
      ENSP00000364979, OTTHUMP00000018698, ENST00000375820, OTTHUMT00000045759
      Conserved Domains (2) summary
      cl02467
      Location:1445 – 1554
      Blast Score: 558
      C4; C-terminal tandem repeated domain in type 4 procollagen
      pfam01391
      Location:878 – 935
      Blast Score: 90
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000013.10 Reference GRCh37.p5 Primary Assembly

      Range
      110801310..110959496, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000145.1 Alternate HuRef

      Range
      91400456..91558957, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL161773.21 CAH71365.1
    genomic AL390755.5 CAH74130.1
    genomic CH471085.1 EAX09108.1
      EAX09109.1
    genomic J04217.1 AAA53098.1
    genomic M26576.1 AAA53098.1
    genomic M36963.1 None
    genomic X12784.1 CAA31276.1
    mRNA AB209646.1 BAD92883.1
    mRNA AF258349.1 AAF72630.1
    mRNA AF363672.1 AAK53382.1
    mRNA AF400431.1 AAK92480.1
    mRNA AF536207.1 AAM97359.1
    mRNA AY285780.1 AAP43112.1
    mRNA BC047305.1 AAH47305.1
    mRNA BC142626.1 AAI42627.1
    mRNA BC151220.1 AAI51221.1
    mRNA BU677787.1 None
    mRNA CD613007.1 None
    mRNA CN256264.1 None
    mRNA DQ464183.1 ABE73157.1
    mRNA EU260121.1 ABX47006.1
    mRNA M10940.1 AAA52006.1
    mRNA M10941.1 None
    mRNA M11315.1 AAA52042.1
    mRNA X03963.1 None
    mRNA X05561.1 CAA29075.1
    mRNA Y00706.1 CAA68698.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02462.3 GenPept UniProtKB/Swiss-Prot:P02462
    Q14051 GenPept UniProtKB/TrEMBL:Q14051
    Q59F15 GenPept UniProtKB/TrEMBL:Q59F15
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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