ENSMUSG00000030116


Mus musculus

Features
Gene ID: ENSMUSG00000030116
  
Biological name :Mfap5
  
Synonyms : Mfap5 / Microfibrillar-associated protein 5 / Q9QZJ6
  
Possible biological names infered from orthology : microfibril associated protein 5 / Q13361
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: F1
Gene start: 122505845
Gene end: 122529290
  
Corresponding Affymetrix probe sets: 10541496 (MoGene1.0st)   1418454_at (Mouse Genome 430 2.0 Array)   1449082_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000112596
Ensembl peptide - ENSMUSP00000122863
Ensembl peptide - ENSMUSP00000118521
Ensembl peptide - ENSMUSP00000116769
Ensembl peptide - ENSMUSP00000113742
Ensembl peptide - ENSMUSP00000032210
NCBI entrez gene - 50530     See in Manteia.
MGI - MGI:1354387
RefSeq - XM_006506364
RefSeq - NM_015776
RefSeq Peptide - NP_001334363
RefSeq Peptide - NP_056591
swissprot - D3Z3L7
swissprot - D3Z4D7
swissprot - Q9QZJ6
swissprot - D3YW93
swissprot - D3Z0U1
swissprot - F8WJ99
Ensembl - ENSMUSG00000030116
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mfap5ENSDARG00000090560Danio rerio
 MFAP5ENSGALG00000027471Gallus gallus
 MFAP5ENSG00000197614Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mfap2 / microfibril associated protein 2 / P55001*ENSMUSG0000006057226


Protein motifs (from Interpro)
Interpro ID Name
 IPR008673  Microfibril-associated glycoprotein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0060216 definitive hemopoiesis IMP
 biological_processGO:0097435 supramolecular fiber organization IDA
 cellular_componentGO:0001527 microfibril IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0031012 extracellular matrix IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030023 extracellular matrix constituent conferring elasticity TAS


Pathways (from Reactome)
Pathway description
Elastic fibre formation
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Tbx20tm1.2Rph/Tbx20tm1.2Rph
Genetic Background: B6.Cg-Tbx20tm1.2Rph

 MP:0000222 decreased neutrophil count "fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tbx20tm1.2Rph/Tbx20tm1.2Rph
Genetic Background: B6.Cg-Tbx20tm1.2Rph

Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0000223 decreased monocyte count "fewer than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tbx20tm1.2Rph/Tbx20tm1.2Rph
Genetic Background: B6.Cg-Tbx20tm1.2Rph

 MP:0000272 abnormal aorta morphology "structural anomaly of the main trunk of the systemic arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tbx20tm1.2Rph/Tbx20tm1.2Rph
Genetic Background: B6.Cg-Tbx20tm1.2Rph

 MP:0003797 abnormal compact bone morphology "structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0009346 decreased cancellous bone thickness "thinner than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0010869 decreased bone trabecula number "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0010933 decreased trabecular bone connectivity density "reduction in the extent of attachments between trabeculae; it may be expressed in ratios of nodes to free ends, trabecular bone pattern factor, and related measures" [ISBN:0120986523 "Principles of bone biology, Volume 1, Bilezikian, JP et al, eds"]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

 MP:0010963 abnormal compact bone volume "any anomaly in the amount of space occupied by compact bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mfap2tm1Mech/Mfap2tm1Mech,Mfap5tm1Mech/Mfap5tm1Mech
Genetic Background: involves: 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000029675 Eln / P54320 / Elastin / P15502*  / complex
 ENSMUSG00000020522 Mfap3 / microfibril associated protein 3 / P55082*  / complex / reaction
 ENSMUSG00000017344 Vtn / P29788 / vitronectin / P04004*  / reaction / complex
 ENSMUSG00000024529 Lox / P28301 / Protein-lysine 6-oxidase / P28300* / lysyl oxidase*  / reaction
 ENSMUSG00000021186 Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*  / complex
 ENSMUSG00000029163 Q99K41 / Emilin1 / Q9Y6C2* / elastin microfibril interfacer 1*  / complex
 ENSMUSG00000024598 Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*  / reaction / complex
 ENSMUSG00000027204 Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*  / reaction / complex
 ENSMUSG00000042436 Mfap4 / Q9D1H9 / Microfibril-associated glycoprotein 4 / P55083* / microfibril associated protein 4*  / reaction / complex
 ENSMUSG00000032334 Loxl1 / lysyl oxidase like 1 / Q08397*  / reaction
 ENSMUSG00000048222 C0HKD9 / C0HKD8 / Mfap1b / Microfibrillar-associated protein 1A / MFAP1* / P55081* / microfibril associated protein 1*  / reaction / complex






 

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