ENSMUSG00000038780


Mus musculus

Features
Gene ID: ENSMUSG00000038780
  
Biological name :Smurf1
  
Synonyms : E3 ubiquitin-protein ligase SMURF1 / Q9CUN6 / Smurf1
  
Possible biological names infered from orthology : Q9HCE7 / SMAD specific E3 ubiquitin protein ligase 1
  
Species: Mus musculus
  
Chr. number: 5
Strand: -1
Band: G2
Gene start: 144876495
Gene end: 144965847
  
Corresponding Affymetrix probe sets: 10535586 (MoGene1.0st)   1428395_at (Mouse Genome 430 2.0 Array)   1428396_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000106305
Ensembl peptide - ENSMUSP00000142841
Ensembl peptide - ENSMUSP00000082827
Ensembl peptide - ENSMUSP00000098029
NCBI entrez gene - 75788     See in Manteia.
MGI - MGI:1923038
RefSeq - XM_011241017
RefSeq - NM_001038627
RefSeq - NM_029438
RefSeq - XM_006504884
RefSeq - XM_006504888
RefSeq - XM_011241016
RefSeq Peptide - NP_083714
RefSeq Peptide - NP_001033716
swissprot - E9Q4K9
swissprot - E9PYU8
swissprot - Q9CUN6
swissprot - A0A0G2JEN5
Ensembl - ENSMUSG00000038780
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 smurf1ENSDARG00000016086Danio rerio
 SMURF1ENSGALG00000004655Gallus gallus
 Q9HCE7ENSG00000198742Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A2A5Z6 / Smurf2 / E3 ubiquitin-protein ligase SMURF2 / Q9HAU4* / SMAD specific E3 ubiquitin protein ligase 2*ENSMUSG0000001836378
Itch / Q8C863 / E3 ubiquitin-protein ligase Itchy / Q96J02* / itchy E3 ubiquitin protein ligase*ENSMUSG0000002759840
Nedd4l / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase / Q96PU5*ENSMUSG0000002458939
Wwp1 / Q8BZZ3 / WW domain containing E3 ubiquitin protein ligase 1 / Q9H0M0*ENSMUSG0000004105838
Wwp2 / Q9DBH0 / WW domain containing E3 ubiquitin protein ligase 2 / O00308*ENSMUSG0000003193037
Hecw2 / Q6I6G8 / E3 ubiquitin-protein ligase HECW2 / Q9P2P5* / HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2*ENSMUSG0000004280736
Hecw1 / Q8K4P8 / E3 ubiquitin-protein ligase HECW1 / Q76N89* / HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1*ENSMUSG0000002130136
Nedd4 / P46935 / neural precursor cell expressed, developmentally down-regulated 4 / P46934* / neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase*ENSMUSG0000003221635
Hace1 / Q3U0D9 / E3 ubiquitin-protein ligase HACE1 / Q8IYU2* / HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1*ENSMUSG0000003882227


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000569  HECT domain
 IPR001202  WW domain
 IPR024928  E3 ubiquitin-protein ligase, SMURF1 type
 IPR035892  C2 domain superfamily
 IPR035983  HECT, E3 ligase catalytic domain
 IPR036020  WW domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IEA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0006611 protein export from nucleus IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0030154 cell differentiation ISO
 biological_processGO:0030279 negative regulation of ossification IMP
 biological_processGO:0030509 BMP signaling pathway IEA
 biological_processGO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IEA
 biological_processGO:0030579 ubiquitin-dependent SMAD protein catabolic process IEA
 biological_processGO:0032801 receptor catabolic process IEA
 biological_processGO:0034394 protein localization to cell surface IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0061734 parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization IMP
 biological_processGO:0061736 engulfment of target by autophagosome IEA
 biological_processGO:0061753 substrate localization to autophagosome IEA
 biological_processGO:0071211 protein targeting to vacuole involved in autophagy IEA
 biological_processGO:1903861 positive regulation of dendrite extension IEA
 biological_processGO:2000060 positive regulation of ubiquitin-dependent protein catabolic process IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IEA
 molecular_functionGO:0070411 I-SMAD binding IEA
 molecular_functionGO:0070412 R-SMAD binding IEA


Pathways (from Reactome)
Pathway description
Signaling by BMP
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Asymmetric localization of PCP proteins
Hedgehog on state
Regulation of RUNX3 expression and activity
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

 MP:0000914 exencephaly "neurocranial defects resulting in exposure or extrusion of the brain" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0001489 decreased startle reflex "greater threshold or less severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, What s Wrong With My Mouse?:ISBN 0-471-31639-3]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0001512 trunk curl "posture of the trunk in a curled position" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0001695 abnormal gastrulation "anomalous development and invagination of the embryonic germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0002151 abnormal neural tube morphology/development "anomalous structure of or development of the embryonic neural tube resulting in structural anomaly" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0002174 abnormal gastrulation movements "failure of embryonic cells to migrate, or migrate to the appropriate target during the development and invagination of the primary germ layers" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:52418]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0002825 abnormal notochord "malformation or absence of the axial fibrocellular cord in embryos around which develops the vertebral primordia" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0003051 curly tail "a loop or corkscrew-like curl in the tail" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0003054 spina bifida "common congenital midline defect of fusion of the vertebral arch" [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0003345 decreased number of ribs "fewer than normal numbers of the pairs of bony structures that make up the body wall" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
Show

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0003885 abnormal rostro-caudal body axis extension "anomaly in or failure of the long (rostral-caudal) axis of the body to elongate normally once patterning has been established" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0003961 decreased lean body mass "less 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]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0004148 increased cortical bone thickness "thicker than normal superficial layer of compact bone" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

 MP:0004261 abnormal embryonic neuroepithelium morphology "any structural anomaly in the epithelial cell layer that lines the neural tube and develops into the nervous system and into the neural crest cells" [ISBN:0838580343 "Kandel ER, et al. Principles of Neural Science, 3rd edition", MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0004491 abnormal orientation of outer hair cell stereociliary bundles "misorientation or rotation of outer hair cell (OHC) stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium " [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0004522 abnormal orientation of cochlear hair cell stereociliary bundles "misorientation or rotation of inner and/or outer hair cell stereociliary bundles, resulting in defective planar cell polarity of the inner ear sensory epithelium" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0005006 abnormal osteoblast function "anomalous function of this bone-forming cell, which normally forms an osseous matrix in which it becomes enclosed as an osteocyte " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scribtm1b(NCOM)Mfgc/Scribtm1b(NCOM)Mfgc
Genetic Background: C57BL/6N-Scribtm1a(NCOM)Mfgc/Tcp

 MP:0010872 increased trabecular bone mass "greater total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ppiftm1Tsu/Ppiftm1Tsu
Genetic Background: involves: 129S5/SvEvBrd

 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]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

Allelic Composition: Smurf1tm1Wran/Smurf1+,Smurf2tm1Wran/Smurf2tm1Wran
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * ICR

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

 MP:0012675 enlarged floor plate "increased size of the specialized glial structure (non-neuronal cells) situated at the ventral midline of the embryonic neural tube; this structure spans the anteroposterior axis from the midbrain to the tail regions, separating the left and right basal plates of the developing neural tube, and serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube" [MGI:anna]
Show

Allelic Composition: Vash2tm1Ysat/Vash2+
Genetic Background: involves: C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020888 Dvl2 / Q60838 / Segment polarity DVL-2 / O14641* / dishevelled segment polarity protein 2*  / reaction / complex
 ENSMUSG00000025880 Smad7 / O35253 / SMAD family member 7 / O15105*  / complex
 ENSMUSG00000021466 Ptch1 / Q61115 / Mus musculus patched 1 (Ptch1), transcript variant 2, mRNA. / Q13635* / patched 1*  / complex / reaction
 ENSMUSG00000027358 Bmp2 / P21274 / Bone morphotic protein 2 / P12643* / bone morphogenetic protein 2*  / complex / reaction
 ENSMUSG00000061393 Acvr2b / P27040 / Activin receptor type-2B / Q13705* / activin A receptor type 2B*  / complex / reaction
 ENSMUSG00000036867 Smad6 / O35182 / Mothers against decapentaplegic homolog 6 / O43541* / SMAD family member 6*  / complex
 ENSMUSG00000052430 Bmpr1b / P36898 / Mus musculus bone morphotic protein receptor, type 1B (Bmpr1b), transcript variant 6, mRNA. / O00238* / bone morphogenetic protein receptor type 1B*  / complex / reaction
 ENSMUSG00000052155 Acvr2a / P27038 / Activin receptor type-2A / P27037* / activin A receptor type 2A*  / reaction / complex
 ENSMUSG00000021796 Bmpr1a / P36895 / Bone morphotic protein receptor type-1A / P36894* / bone morphogenetic protein receptor type 1A*  / complex / reaction
 ENSMUSG00000005699 Pard6a / Q9Z101 / Partitioning defective 6 homolog alpha / Q9NPB6* / par-6 family cell polarity regulator alpha*  / complex / reaction
 ENSMUSG00000067336 Bmpr2 / O35607 / Bone morphotic protein receptor type-2 / Q13873* / bone morphogenetic protein receptor type 2*  / complex / reaction
 ENSMUSG00000032440 Q62312 / Tgfbr2 / transforming growth factor, beta receptor II / P37173* / transforming growth factor beta receptor 2*  / complex / reaction
 ENSMUSG00000007613 Q64729 / Tgfbr1 / transforming growth factor, beta receptor I / P36897* / transforming growth factor beta receptor 1*  / complex / reaction
 ENSMUSG00000039153 Runx2 / Q08775 / runt related transcription factor 2 / Q13950*  / complex / reaction
 ENSMUSG00000002603 Tgfb1 / P04202 / transforming growth factor, beta 1 / P01137*  / reaction / complex






 

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