ENSMUSG00000001435


Mus musculus

Features
Gene ID: ENSMUSG00000001435
  
Biological name :Col18a1
  
Synonyms : Col18a1 / Collagen alpha-1(XVIII) chain Endostatin Non-collagenous domain 1 / P39061
  
Possible biological names infered from orthology : collagen type XVIII alpha 1 chain / P39060
  
Species: Mus musculus
  
Chr. number: 10
Strand: -1
Band: C1
Gene start: 77052178
Gene end: 77166548
  
Corresponding Affymetrix probe sets: 10370259 (MoGene1.0st)   1418237_s_at (Mouse Genome 430 2.0 Array)   1426955_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000101049
Ensembl peptide - ENSMUSP00000151291
Ensembl peptide - ENSMUSP00000122580
Ensembl peptide - ENSMUSP00000072538
Ensembl peptide - ENSMUSP00000080358
NCBI entrez gene - 12822     See in Manteia.
MGI - MGI:88451
RefSeq - XM_006513174
RefSeq - XM_006513173
RefSeq - XM_006513176
RefSeq - NM_001109991
RefSeq - NM_009929
RefSeq - XM_011243346
RefSeq Peptide - NP_034059
RefSeq Peptide - NP_001103461
swissprot - P39061
swissprot - E9QPX1
swissprot - A0A1W2P6N8
swissprot - D3Z556
Ensembl - ENSMUSG00000001435
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 col18a1aENSDARG00000036558Danio rerio
 col18a1bENSDARG00000095901Danio rerio
 COL18A1ENSGALG00000038311Gallus gallus
 P39060ENSG00000182871Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
O35206 / Col15a1 / Collagen alpha-1(XV) chain Restin / P39059* / collagen type XV alpha 1 chain*ENSMUSG0000002833933


Protein motifs (from Interpro)
Interpro ID Name
 IPR001791  Laminin G domain
 IPR008160  Collagen triple helix repeat
 IPR010363  Domain of unknown function DUF959, collagen XVIII, N-terminal
 IPR010515  Collagenase NC10/endostatin
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR016133  Insect cysteine-rich antifreeze protein
 IPR016186  C-type lectin-like/link domain superfamily
 IPR016187  C-type lectin fold
 IPR020067  Frizzled domain
 IPR035523  Collagen alpha-1(XVIII) chain, frizzled domain
 IPR036790  Frizzled cysteine-rich domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001525 angiogenesis IMP
 biological_processGO:0001886 endothelial cell morphogenesis IDA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0008284 positive regulation of cell proliferation IDA
 biological_processGO:0030198 extracellular matrix organization IMP
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:2000353 positive regulation of endothelial cell apoptotic process IDA
 cellular_componentGO:0005576 extracellular region ISO
 cellular_componentGO:0005581 collagen trimer IEA
 cellular_componentGO:0005604 basement membrane IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Collagen degradation
Activation of Matrix Metalloproteinases
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Laminin interactions
Collagen chain trimerization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0000439 enlarged skull 
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0000827 dilated third ventricle "enlarged narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0000829 dilated fourth ventricle "enlarged irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0001289 persistence of hyaloid capillary system "failure of the degeneration of the transient vascular system of the eye during development" [J:49840]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0001317 abnormal pupil morphology "structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0001322 abnormal iris morphology "structural anomaly of the adjustable membrane, composed of the stroma and pigmented epithelium, located just in front of the crystalline lens within the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0001570 abnormal circulating enzyme level "aberrent concentration in the blood of any of the proteins that act as catalysts for biological reactions" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0002574 increased vertical activity "greater than average time spent jumping or rearing " [J:72576, cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

 MP:0002624 abnormal tricuspid valve morphology "malformation of the valve with three cusps located between the right atrium and the right ventricle of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0002699 abnormal vitreous body "anomalies of the transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

 MP:0003975 increased circulating VLDL triglyceride level "higher than average concentration in the blood of very low density lipoprotein, which normally transports triglycerides from the intestine and liver to muscle and adipose tissue" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
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Allelic Composition: Slc12a2tm2Bhk/Slc12a2tm2Bhk
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J

Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

Allelic Composition: Col18a1tm1Pih/Col18a1tm1Pih
Genetic Background: B6JOlaHsd.Cg-Col18a1tm1Pih

Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0005099 abnormal ciliary body morphology "structural anomaly of the thickened portion of the vascular tunic, which lies between the choroid and the iris" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0005199 abnormal iris pigment epithelium "anomaly in the epithelial layer of the iris composed of cells containing pigment granules " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0005319 abnormal enzyme/ coenzyme level "altered concentration of any of these proteins, or their cofactors, that act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mtf1tm1Wsc/Mtf1tm1Wsc
Genetic Background: Not Specified

Allelic Composition: Col18a1tm2Pih/Col18a1tm2Pih
Genetic Background: B6JOlaHsd.Cg-Col18a1tm2Pih

 MP:0005541 abnormal iris stromal pigmentation "anomalous coloring of the framework of the iris" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

 MP:0005545 abnormal lens development "aberrant formation of the transparent structure of the eye responsible for focusing light rays" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Prndtm1Dwm/Prndtm1Dwm
Genetic Background: 129P2/OlaHsd-Prndtm1Dwm

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Lamc2jeb/Lamc2jeb
Genetic Background: B6.129X1-Lamc2jeb/Dcr

 MP:0006000 abnormal corneal epithelium "malformation in the one or more of the layers of epithelial cells covering the front of the cornea" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

 MP:0008033 impaired lipolysis "reduction in the rate of the hydrolysis of fat into free fatty acids " [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: B6.129S4-Col18a1tm1Hms

Allelic Composition: Col18a1tm2Pih/Col18a1tm2Pih
Genetic Background: B6JOlaHsd.Cg-Col18a1tm2Pih

 MP:0011056 abnormal brain ependyma motile cilium morphology "any structural anomaly of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0011338 abnormal mesangial matrix morphology "any structural anomaly of the extracellular matrix secreted by intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0011380 enlarged brain ventricle "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]
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Allelic Composition: Col18a1tm1Hms/Col18a1tm1Hms
Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6JOlaHsd

 MP:0013279 increased fasted circulating glucose level "increase in the amount of glucose in the blood at some defined time point after eating compared to controls" [MGI:Armida_Di_Fenza]
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Allelic Composition: Cbln3tm1.1(KOMP)Vlcg/Cbln3tm1.1(KOMP)Vlcg
Genetic Background: C57BL/6N-Cbln3tm1.1(KOMP)Vlcg/Ucd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000002900 Lamb1 / P02469 / Laminin subunit beta-1 / P07942*  / complex / reaction
 ENSMUSG00000001435 P39061 / Col18a1 / Collagen alpha-1(XVIII) chain Endostatin Non-collagenous domain 1 / P39060* / collagen type XVIII alpha 1 chain*  / complex
 ENSMUSG00000026478 Lamc1 / laminin subunit gamma 1 / P11047*  / complex / reaction
 ENSMUSG00000032796 Lama1 / laminin subunit alpha 1 / P25391*  / reaction / complex






 

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