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Col18a1 collagen, type XVIII, alpha 1 [ Mus musculus (house mouse) ]

Gene ID: 12822, updated on 14-Nov-2024

Summary

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Official Symbol
Col18a1provided by MGI
Official Full Name
collagen, type XVIII, alpha 1provided by MGI
Primary source
MGI:MGI:88451
See related
Ensembl:ENSMUSG00000001435 AllianceGenome:MGI:88451
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Predicted to enable identical protein binding activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within several processes, including endothelial cell morphogenesis; positive regulation of endothelial cell apoptotic process; and positive regulation of vascular endothelial cell proliferation. Located in basement membrane. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study pigment dispersion syndrome. Human ortholog(s) of this gene implicated in primary angle-closure glaucoma. Orthologous to human COL18A1 (collagen type XVIII alpha 1 chain). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in liver adult (RPKM 128.4), liver E18 (RPKM 40.0) and 21 other tissues See more
Orthologs
human all
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Genomic context

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See Col18a1 in Genome Data Viewer
Location:
10 C1; 10 39.72 cM
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (76888013..77002351, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (77052178..77166530, complement)

Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene predicted gene 10787 Neighboring gene predicted gene, 3137 Neighboring gene solute carrier family 19 (folate transporter), member 1 Neighboring gene STARR-seq mESC enhancer starr_27190 Neighboring gene spermidine synthase pseudogene Neighboring gene STARR-seq mESC enhancer starr_27194 Neighboring gene STARR-seq mESC enhancer starr_27197 Neighboring gene STARR-seq mESC enhancer starr_27199 Neighboring gene predicted gene, 35837 Neighboring gene predicted gene, 40704 Neighboring gene predicted gene, 40703

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Serum endostatin levels and regenerative capacities of normal and cirrhotic livers following partial hepatectomy in mice: the response to different resection sizes. Colakoglu T, et al. J Surg Res, 2007 Dec. PMID 17574579
  2. Target-derived matricryptins organize cerebellar synapse formation through α3β1 integrins. Su J, et al. Cell Rep, 2012 Aug 30. PMID 22884367, Free PMC Article
  3. Decreased reendothelialization and increased neointima formation with endostatin overexpression in a mouse model of arterial injury. Hutter R, et al. Circulation, 2003 Apr 1. PMID 12668502
  4. Endostatin expression by MDA-MB-435 breast cancer cells effectively inhibits tumor growth. Liby K, et al. Cancer Biol Ther, 2003 Jan-Feb. PMID 12673115
  5. Endostatin overexpression inhibits lymphangiogenesis and lymph node metastasis in mice. Brideau G, et al. Cancer Res, 2007 Dec 15. PMID 18089781

See all (158) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Microvascular damage, neuroinflammation and extracellular matrix remodeling in Col18a1 knockout mice as a model for early cerebral small vessel disease.
    Title: Microvascular damage, neuroinflammation and extracellular matrix remodeling in Col18a1 knockout mice as a model for early cerebral small vessel disease.
  2. Lack of collagen XVIII leads to lipodystrophy and perturbs hepatic glucose and lipid homeostasis.
    Title: Lack of collagen XVIII leads to lipodystrophy and perturbs hepatic glucose and lipid homeostasis.
  3. Collagen XVIII plays a role in the formation of the dermal-epidermal junction during re-epithelialization.
    Title: Collagen XVIII Deposition in the Basement Membrane Zone beneath the Newly Forming Epidermis during Wound Healing in Mice.
  4. This study examined the staining levels of proteasomal and autophagy markers in the RPE of different ages of the Col18a1 (-/-) mice. Eyes from 3, 6-7, 10-13 and 18 months old mice were enucleated and embedded in paraffin according to the routine protocol.
    Title: Absence of collagen XVIII in mice causes age-related insufficiency in retinal pigment epithelium proteostasis.
  5. Kidney fibrosis in aging may represent a natural outcome of upregulated endostatin (EST) and transglutaminase 2 (TG2), but more likely it appears to be a result of cumulative stresses occurring on the background of synergistically acting geronic (aging) proteins, EST and TG2.
    Title: Endostatin and transglutaminase 2 are involved in fibrosis of the aging kidney.
  6. Basement membrane zone collagens XV and XVIII mediate leukocyte influx in renal ischemia-reperfusion.
    Title: Basement membrane zone collagens XV and XVIII/proteoglycans mediate leukocyte influx in renal ischemia/reperfusion.
  7. Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining
    Title: Specific collagen XVIII isoforms promote adipose tissue accrual via mechanisms determining adipocyte number and affect fat deposition.
  8. There are correlations between the elevation of endostatin levels and parallel microvascular rarefaction and induction of renal fibrosis in aging mice.
    Title: Endostatin and kidney fibrosis in aging: a case for antagonistic pleiotropy?
  9. An excess of the collagen XVIII Tsp-1 domain is deleterious in the eye, possibly by impairing certain functions of the full-length molecule.
    Title: Collagen XVIII short isoform is critical for retinal vascularization, and overexpression of the Tsp-1 domain affects eye growth and cataract formation.
  10. The results of the present study indicate endostatin promotes soft callus formation but inhibits callus remodeling during fracture healing most probably by an inhibition of angiogenesis.
    Title: Endostatin inhibits Callus remodeling during fracture healing in mice.
Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (5)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables extracellular matrix structural constituent conferring tensile strength IBA
Inferred from Biological aspect of Ancestor
more info
  
enables extracellular matrix structural constituent conferring tensile strength RCA
inferred from Reviewed Computational Analysis
more info
 PubMed 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within angiogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of blood vessel endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endothelial cell morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within endothelial cell morphogenesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within extracellular matrix organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within positive regulation of blood vessel endothelial cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of endothelial cell apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within positive regulation of vascular endothelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skeletal system development IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of vascular endothelial cell proliferation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in basement membrane IDA
Inferred from Direct Assay
more info
 PubMed 
part_of collagen trimer IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in collagen-containing extracellular matrix HDA PubMed 
is_active_in collagen-containing extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
collagen alpha-1(XVIII) chain
Names
alpha-1(XVIII) collagen
endostatin
procollagen, type XVIII, alpha 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001109991.2 → NP_001103461.1  collagen alpha-1(XVIII) chain isoform 1 precursor

    See identical proteins and their annotated locations for NP_001103461.1

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334
    Consensus CDS
    CCDS48604.1
    UniProtKB/Swiss-Prot
    P39061, Q60672, Q61434, Q61437, Q62001, Q62002, Q6NZK9, Q6P1Y4, Q8CCZ8, Q9CRT2, Q9JK63
    Related
    ENSMUSP00000101049.2, ENSMUST00000105409.8
    Conserved Domains (4) summary
    pfam01391
    Location:822 → 881
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:245 → 433
    TSPN; Thrombospondin N-terminal -like domains
    cd00247
    Location:1350 → 1520
    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:22 → 218
    DUF959; Domain of Unknown Function (DUF959)

  2. NM_001406250.1 → NP_001393179.1  collagen alpha-1(XVIII) chain isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  3. NM_001406251.1 → NP_001393180.1  collagen alpha-1(XVIII) chain isoform 4 precursor

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  4. NM_001406252.1 → NP_001393181.1  collagen alpha-1(XVIII) chain isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  5. NM_001406253.1 → NP_001393182.1  collagen alpha-1(XVIII) chain isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  6. NM_001406254.1 → NP_001393183.1  collagen alpha-1(XVIII) chain isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  7. NM_001406255.1 → NP_001393184.1  collagen alpha-1(XVIII) chain isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334

  8. NM_009929.4 → NP_034059.2  collagen alpha-1(XVIII) chain isoform 2 precursor

    See identical proteins and their annotated locations for NP_034059.2

    Status: VALIDATED

    Source sequence(s)
    AC055777, AC159334
    Consensus CDS
    CCDS23953.1
    UniProtKB/Swiss-Prot
    P39061
    Related
    ENSMUSP00000080358.7, ENSMUST00000081654.13
    Conserved Domains (3) summary
    pfam01391
    Location:610 → 669
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:33 → 221
    TSPN; Thrombospondin N-terminal -like domains
    cd00247
    Location:1138 → 1308
    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; ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000076.7 Reference GRCm39 C57BL/6J

    Range
    76888013..77002351 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006513174.4 → XP_006513237.1  collagen alpha-1(XVIII) chain isoform X2

    UniProtKB/Swiss-Prot
    P39061, Q60672, Q61434, Q61437, Q62001, Q62002, Q6NZK9, Q6P1Y4, Q8CCZ8, Q9CRT2, Q9JK63
    Conserved Domains (5) summary
    cd07455
    Location:366 → 488
    CRD_Collagen_XVIII; Cysteine-rich domain of the variant 3 of collagen XVIII (V3C18 )
    pfam01391
    Location:1069 → 1128
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:492 → 680
    TSPN; Thrombospondin N-terminal -like domains
    pfam06121
    Location:37 → 218
    DUF959; Domain of Unknown Function (DUF959)
    pfam06482
    Location:1462 → 1764
    Endostatin; Collagenase NC10 and Endostatin

  2. XM_006513173.5 → XP_006513236.1  collagen alpha-1(XVIII) chain isoform X1

    UniProtKB/Swiss-Prot
    P39061, Q60672, Q61434, Q61437, Q62001, Q62002, Q6NZK9, Q6P1Y4, Q8CCZ8, Q9CRT2, Q9JK63
    UniProtKB/TrEMBL
    E9QPX1
    Related
    ENSMUSP00000072538.5, ENSMUST00000072755.12
    Conserved Domains (5) summary
    cd07455
    Location:366 → 488
    CRD_Collagen_XVIII; Cysteine-rich domain of the variant 3 of collagen XVIII (V3C18 )
    pfam01391
    Location:1069 → 1128
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:492 → 680
    TSPN; Thrombospondin N-terminal -like domains
    pfam06121
    Location:37 → 218
    DUF959; Domain of Unknown Function (DUF959)
    pfam06482
    Location:1463 → 1765
    Endostatin; Collagenase NC10 and Endostatin

  3. XM_006513176.4 → XP_006513239.1  collagen alpha-1(XVIII) chain isoform X6

    UniProtKB/Swiss-Prot
    P39061, Q60672, Q61434, Q61437, Q62001, Q62002, Q6NZK9, Q6P1Y4, Q8CCZ8, Q9CRT2, Q9JK63
    Conserved Domains (4) summary
    pfam01391
    Location:822 → 881
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:245 → 433
    TSPN; Thrombospondin N-terminal -like domains
    pfam06121
    Location:37 → 218
    DUF959; Domain of Unknown Function (DUF959)
    pfam06482
    Location:1215 → 1517
    Endostatin; Collagenase NC10 and Endostatin

  4. XM_011243347.4 → XP_011241649.1  collagen alpha-1(XVIII) chain isoform X5

    Conserved Domains (4) summary
    cd07455
    Location:366 → 488
    CRD_Collagen_XVIII; Cysteine-rich domain of the variant 3 of collagen XVIII (V3C18 )
    pfam01391
    Location:840 → 875
    Collagen; Collagen triple helix repeat (20 copies)
    smart00210
    Location:492 → 680
    TSPN; Thrombospondin N-terminal -like domains
    pfam06121
    Location:37 → 218
    DUF959; Domain of Unknown Function (DUF959)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P39061.4 GenPept UniProtKB/Swiss-Prot:P39061

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