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    COL18A1 collagen type XVIII alpha 1 [ Homo sapiens (human) ]

    Gene ID: 80781, updated on 24-Jan-2016
    Official Symbol
    COL18A1provided by HGNC
    Official Full Name
    collagen type XVIII alpha 1provided by HGNC
    Primary source
    HGNC:HGNC:2195
    See related
    Ensembl:ENSG00000182871; HPRD:00382; MIM:120328; Vega:OTTHUMG00000090407
    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
    KS; KNO; KNO1
    Summary
    This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Orthologs
    See COL18A1 in Epigenomics, MapViewer
    Location:
    21q22.3
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (45405137..45513720)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (46825058..46933634)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372839 Neighboring gene uncharacterized LOC101928745 Neighboring gene MT-CO1 pseudogene 3 Neighboring gene COL18A1 antisense RNA 2 Neighboring gene COL18A1 antisense RNA 1 Neighboring gene microRNA 6815 Neighboring gene solute carrier family 19 (folate transporter), member 1 Neighboring gene uncharacterized LOC105372840 Neighboring gene uncharacterized LOC100129027

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Knobloch syndrome 1
    MedGen: C1849409 OMIM: 267750 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Multiple loci influencing hippocampal degeneration identified by genome scan.
    NHGRI GWA Catalog
    • Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
      Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
    • 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...
    • 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 degradation, organism-specific biosystem (from REACTOME)
      Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
    • 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...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
      Direct p53 effectors, organism-specific biosystem
      Direct p53 effectors
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • 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...
    • Laminin interactions, organism-specific biosystem (from REACTOME)
      Laminin interactions, organism-specific biosystemLaminins are a large family of conserved, multidomain trimeric basement membrane proteins. There are many theoretical trimer combinations but only 18 have been described (Domogatskaya et al. 2012, Mi...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ27325, FLJ34914, MGC74745

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural molecule activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    endothelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of endothelial cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to hydrostatic pressure IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with extracellular matrix TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    collagen alpha-1(XVIII) chain
    Names
    antiangiogenic agent
    collagen, type XVIII, alpha 1
    endostatin
    multi-functional protein MFP

    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_011903.1 RefSeqGene

      Range
      5001..113529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_030582.3NP_085059.2  collagen alpha-1(XVIII) chain isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_085059.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as NCI-493) uses an alternate splice donor in the 5' terminal exon compared to variant 3. The encoded isoform (1) is shorter than isoform 3.
      Source sequence(s)
      AF018082, BC063833, BX322561
      Consensus CDS
      CCDS42972.1
      UniProtKB/TrEMBL
      D3DSM5
      UniProtKB/Swiss-Prot
      P39060
      Related
      ENSP00000347665, OTTHUMP00000115472, ENST00000355480, OTTHUMT00000206827
      Conserved Domains (5) summary
      pfam01391
      Location:822872
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:221409
      TSPN; Thrombospondin N-terminal -like domains
      cd00247
      Location:13401510
      Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
      pfam06121
      Location:22195
      DUF959; Domain of Unknown Function (DUF959)
      pfam06482
      Location:12021516
      Endostatin; Collagenase NC10 and Endostatin
    2. NM_130444.2NP_569711.2  collagen alpha-1(XVIII) chain isoform 3 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as NCI-728) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AF018082, BC063833, BX322561
      Consensus CDS
      CCDS77643.1
      UniProtKB/Swiss-Prot
      P39060
      Related
      ENSP00000352798, ENST00000359759
      Conserved Domains (6) summary
      cd07455
      Location:330452
      CRD_Collagen_XVIII; Cysteine-rich domain of the variant 3 of collagen XVIII (V3C18 )
      pfam01391
      Location:10571107
      Collagen; Collagen triple helix repeat (20 copies)
      smart00210
      Location:456644
      TSPN; Thrombospondin N-terminal -like domains
      cd00247
      Location:15751745
      Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
      pfam06121
      Location:22195
      DUF959; Domain of Unknown Function (DUF959)
      pfam06482
      Location:14371751
      Endostatin; Collagenase NC10 and Endostatin
    3. NM_130445.3NP_569712.2  collagen alpha-1(XVIII) chain isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_569712.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as NCI-303) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 3. The encoded isoform (2) has a distinct and shorter N-terminus compared to isoform 3.
      Source sequence(s)
      AF018082, BC063833, CN389577
      Consensus CDS
      CCDS42971.1
      UniProtKB/TrEMBL
      D3DSM4
      UniProtKB/Swiss-Prot
      P39060
      Related
      ENSP00000383191, OTTHUMP00000115473, ENST00000400337, OTTHUMT00000206828
      Conserved Domains (4) summary
      pfam01391
      Location:642692
      Collagen; Collagen triple helix repeat (20 copies)
      cd00247
      Location:11601330
      Endostatin-like; Endostatin-like domain; the angiogenesis inhibitor endostatin is a C-terminal fragment of collagen XV/XVIII, a proteoglycan/collagen found in vessel walls and basement membranes; this domain has a compact globular fold similar to that of C-type lectins; ...
      pfam06482
      Location:10221336
      Endostatin; Collagenase NC10 and Endostatin
      cl22861
      Location:41229
      LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

      Range
      45405137..45513720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

      Range
      46385890..46494464
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)