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    COL4A5 collagen type IV alpha 5 chain [ Homo sapiens (human) ]

    Gene ID: 1287, updated on 13-Aug-2016
    Official Symbol
    COL4A5provided by HGNC
    Official Full Name
    collagen type IV alpha 5 chainprovided by HGNC
    Primary source
    HGNC:HGNC:2207
    See related
    Ensembl:ENSG00000188153 HPRD:02363; MIM:303630; Vega:OTTHUMG00000022182
    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
    ATS; ASLN; CA54
    Summary
    This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
    Orthologs
    Location:
    Xq22
    Exon count:
    58
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (108439844..108697545)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107683019..107940775)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene proteasome 26S subunit, non-ATPase 10 Neighboring gene autophagy related 4A cysteine peptidase Neighboring gene collagen type IV alpha 6 chain Neighboring gene uncharacterized LOC101928358 Neighboring gene insulin receptor substrate 4 Neighboring gene RNA, U6 small nuclear 309, pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page

    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
    Tat tat Treatment with cannabinoids inhibits HIV-1 Tat-enhanced attachment of U937 cells to collagen IV, laminin, or ECM1 proteins, which is linked to the cannabinoid receptor type 2 and the modulation of beta1-integrin and actin distribution PubMed
    tat HIV-1 Tat enhances adhesion of human U937 monocyte-like cells to proteins of the extracellular matrix, such as collagen IV, laminin, and ECM1 PubMed

    Go to the HIV-1, Human Interaction Database

    • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • Amoebiasis, organism-specific biosystem (from KEGG)
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    • 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...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • 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...
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • 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 ...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
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    • 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)
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    • 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)
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    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
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    • 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)
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    • 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)
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    • Small cell lung cancer, conserved biosystem (from KEGG)
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    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC42377, MGC167109, DKFZp686G1497

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    neuromuscular junction development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basal lamina IEA
    Inferred from Electronic Annotation
    more info
     
    collagen type IV trimer IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    collagen alpha-5(IV) chain
    Names
    collagen IV, alpha-5 polypeptide
    collagen of basement membrane, alpha-5 chain
    collagen, type IV, alpha 5
    dA149D17.3
    dA24A23.1

    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_011977.1 RefSeqGene

      Range
      5001..262622
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000495.4NP_000486.1  collagen alpha-5(IV) chain isoform 1 precursor

      See identical proteins and their annotated locations for NP_000486.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame segment in the coding region, compared to variant 2. The resulting isoform (1) lacks two Gly-X-Y repeats, compared to isoform 2.
      Source sequence(s)
      BC035387, BC151846, BU688037, DA461056, M31115
      Consensus CDS
      CCDS14543.1
      UniProtKB/Swiss-Prot
      P29400
      UniProtKB/TrEMBL
      A7MBN3, Q49AM6
      Related
      ENSP00000354505, OTTHUMP00000023838, ENST00000361603, OTTHUMT00000057880
      Conserved Domains (2) summary
      pfam01391
      Location:12851344
      Collagen; Collagen triple helix repeat (20 copies)
      pfam01413
      Location:15731682
      C4; C-terminal tandem repeated domain in type 4 procollagen
    2. NM_033380.2NP_203699.1  collagen alpha-5(IV) chain isoform 2 precursor

      See identical proteins and their annotated locations for NP_203699.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longer isoform (2).
      Source sequence(s)
      BC035387, BC151846, BU688037, DA461056, M31115
      Consensus CDS
      CCDS35366.1
      UniProtKB/Swiss-Prot
      P29400
      UniProtKB/TrEMBL
      A7MBN3, Q49AM6
      Related
      ENSP00000331902, OTTHUMP00000217926, ENST00000328300, OTTHUMT00000360023
      Conserved Domains (3) summary
      smart00111
      Location:15771690
      C4; C-terminal tandem repeated domain in type 4 procollagens
      pfam01413
      Location:14671576
      C4; C-terminal tandem repeated domain in type 4 procollagen
      pfam01391
      Location:12911350
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      108439844..108697545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530849.2XP_011529151.2  

    2. XM_017029260.1XP_016884749.1  

    3. XM_017029259.1XP_016884748.1  

    4. XM_017029261.1XP_016884750.1  

    5. XM_017029262.1XP_016884751.1  

    6. XM_017029263.1XP_016884752.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      107593900..107851643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_033381.1: Suppressed sequence

      Description
      NM_033381.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.