ENSMUSG00000004044


Mus musculus

Features
Gene ID: ENSMUSG00000004044
  
Biological name :Cavin1
  
Synonyms : Caveolae-associated protein 1 / Cavin1 / O54724
  
Possible biological names infered from orthology : Q6NZI2
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: D
Gene start: 100956733
Gene end: 100970887
  
Corresponding Affymetrix probe sets: 10391332 (MoGene1.0st)   1421431_at (Mouse Genome 430 2.0 Array)   1424130_a_at (Mouse Genome 430 2.0 Array)   1453891_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000058321
NCBI entrez gene - 19285     See in Manteia.
MGI - MGI:1277968
RefSeq - NM_008986
RefSeq Peptide - NP_033012
swissprot - O54724
Ensembl - ENSMUSG00000004044
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cavin1aENSDARG00000076411Danio rerio
 cavin1bENSDARG00000059362Danio rerio
 PTRFENSGALG00000003261Gallus gallus
 CAVIN1ENSG00000177469Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cavin2 / Q63918 / Caveolae-associated protein 2 / O95810*ENSMUSG0000004595437
A2AMM0 / Cavin4 / Caveolae-associated protein 4 / Q5BKX8*ENSMUSG0000002834826
Cavin3 / Q91VJ2 / Caveolae-associated protein 3 / Q969G5*ENSMUSG0000003706020


Protein motifs (from Interpro)
Interpro ID Name
 IPR026752  Cavin family
 IPR033297  Caveolae-associated protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006353 DNA-templated transcription, termination IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006361 transcription initiation from RNA polymerase I promoter IDA
 biological_processGO:0006363 termination of RNA polymerase I transcription ISO
 biological_processGO:0009303 rRNA transcription IMP
 biological_processGO:2000147 positive regulation of cell motility IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion ISO
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005901 caveola ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019843 rRNA binding IEA
 molecular_functionGO:0042134 rRNA primary transcript binding IEA
 molecular_functionGO:0042802 identical protein binding IEA


Pathways (from Reactome)
Pathway description
RNA Polymerase I Transcription Termination


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000741 impaired contractility of detrusor smooth muscle "inability or reduced ability of the detrusor smooth muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Fgfr2tm1.1Dor/Fgfr2hob
Genetic Background: involves: 129X1/SvJ * C57BL/6J * FVB/N

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Fgfr2tm1.1Dor/Fgfr2hob
Genetic Background: involves: 129X1/SvJ * C57BL/6J * FVB/N

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0001548 hyperlipidemia "abnormally high concentration of lipids in the circulating blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 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: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0001554 increased circulating free fatty acid level "higher than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0003548 pulmonary hypertension "sustained high pulmonary pressure at a level that is likely to result in disease and/or other pathological states" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:54986]
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Allelic Composition: Fgfr2tm1.1Dor/Fgfr2hob
Genetic Background: involves: 129X1/SvJ * C57BL/6J * FVB/N

 MP:0003913 increased right ventricle weight "greater than average weight of the right ventricle compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Fgfr2tm1.1Dor/Fgfr2hob
Genetic Background: involves: 129X1/SvJ * C57BL/6J * FVB/N

 MP:0003949 abnormal circulating lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0003960 increased lean body mass "more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0004150 absent caveolae "absence of the small pockets, vesicles, caves, or recesses communicating with the outside of a cell and extending inward, indenting the cytoplasm and the cell membrane" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0005331 insulin resistance "diminished effectiveness of insulin in lowering plasma glucose levels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:84260, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0005418 abnormal circulating hormone level "anomalous blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the bloodstream to the target organs, it is sometimes extended to include substances that are not produced by the endocrine glands but that have similar effects" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0005668 decreased circulating leptin level "less than the normal blood concentration of the peptide hormone secreted by white adipocytes and believed to regulate food intake and energy balance" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, J:34751]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0006055 abnormal vascular endothelial cell morphology "malformation in the cells that line the vasculature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0010758 increased right ventricle systolic pressure "increase in the pressure in the right ventricle as the heart contracts and pumps blood into the arteries" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

 MP:0011774 abnormal urinary bladder detrusor smooth muscle morphology "any structural anomaly of the bundles of smooth muscle fibers forming the muscular wall of the urinary bladder, which are arranged in a longitudinal and a circular layer and, on contraction, serve to expel urine" [MGI:anna]
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Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0011799 increased urinary bladder weight "greater than average weight of the distensible musculomembranous organ that serves to collect and store urine excreted by the kidneys compared to controls" [MGI:anna]
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Allelic Composition: Cavin1tm1Pfp/Cavin1tm1Pfp
Genetic Background: B6.129S6-Cavin1tm1Pfp/J

 MP:0020234 decreased basal metabolism "decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state" [GOC:NV]
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Allelic Composition: Tmprss6m3Btlr/Tmprss6m3Btlr
Genetic Background: C57BL/6J-Tmprss6m3Btlr

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026803 Ttf1 / Q62187 / transcription termination factor, RNA polymerase I / Q15361* / transcription termination factor 1*  / reaction / complex






 

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