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Col18a1
Gene Detail
Symbol

Name
ID
Col18a1
collagen, type XVIII, alpha 1
MGI:88451
Synonyms
endostatin
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.72 cM, cytoband B5-C1
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr10:77052178-77166548 bp, - strand
From VEGA annotation of GRCm38

  114371 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7673  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 chicken; 1 western clawed frog

Gene Tree: Col18a1

Human
homologs
Human Homolog COL18A1, collagen, type XVIII, alpha 1
NCBI Gene ID 80781
neXtProt AC  NX_P39060
Human Synonyms  KNO, KNO1, KS
Human Chr (Location)  21q22.3; chr21:45405182-45513720 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human COL18A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(179) : Gene trapped(169) Targeted(10)
Genomic Mutations involving Col18a1 (3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a knock-out allele exhibit defects in hyaloid vessel regression, attenuated visual function, abnormal electroretinograms, broad proximal tubule basement membrane, podocyte effacement, and softened glomeruli.
 
Human Diseases Modeled Using Mouse Col18a1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Col18a1 interacts with 161 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process angiogenesis, cell adhesion, ...
Component basement membrane, collagen trimer, ...
Function identical protein binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (32 records)
Data Summary: Results (593)    Tissues (287)    Images (73)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 23
RNA in situ 512
Northern blot 36
Western blot 4
RT-PCR 18
cDNA source data(344)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(373) Genomic(20) cDNA(345) Primer pair(3) Other(5)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000021408 (Evidence)
Ensembl Gene ModelENSMUSG00000001435 (Evidence)
Entrez Gene12822 (Evidence)
UniGene4352
DFCITC1571925, TC1628096
DoTSDT.101184729, DT.101738479, DT.535448, DT.87039032
NIA Mouse Gene IndexU031954
PDB1KOE, 1DY0, 1DY1
Consensus CDS ProjectCCDS23953.1, CCDS48604.1
International Mouse Knockout Project StatusCol18a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021408 VEGA Gene Model | MGI Sequence Detail 114371 C57BL/6J ±  kb
transcript OTTMUST00000050740 VEGA | MGI Sequence Detail 4791 Not Applicable 
polypeptide OTTMUSP00000023766 VEGA | MGI Sequence Detail 1527 Not Applicable 

For the selected sequences
All sequences(82) RefSeq(13) UniProt(4)
Polymorphisms
RFLP(1) : SNPs within 2kb(836 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR026917 Collagen alpha-1(XVIII) chain
InterPro IPR010515 Collagenase NC10/endostatin
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR008985 Concanavalin A-like lectin/glucanases superfamily
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR016187 C-type lectin fold
InterPro IPR016186 C-type lectin-like
InterPro IPR010363 Domain of unknown function DUF959, collagen XVIII, N-terminal
InterPro IPR020067 Frizzled domain
InterPro IPR015526 Frizzled/secreted frizzled-related protein
InterPro IPR001791 Laminin G domain
Protein Ontology PR:000005702 collagen alpha-1(XVIII) chain
References
(Earliest) J:15411 Abe N, et al., Identification of a novel collagen chain represented by extensive interruptions in the triple-helical region. Biochem Biophys Res Commun. 1993 Oct 29;196(2):576-82
(Latest) J:200045 Duncan MB, et al., Type XVIII collagen is essential for survival during acute liver injury in mice. Dis Model Mech. 2013 Jul;6(4):942-51
All references(105)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-2058

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory