ENSMUSG00000018293


Mus musculus

Features
Gene ID: ENSMUSG00000018293
  
Biological name :Pfn1
  
Synonyms : P62962 / Pfn1 / profilin 1
  
Possible biological names infered from orthology : P07737
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: B3
Gene start: 70651850
Gene end: 70654644
  
Corresponding Affymetrix probe sets: 10387932 (MoGene1.0st)   1449018_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000018437
Ensembl peptide - ENSMUSP00000104189
Ensembl peptide - ENSMUSP00000136219
NCBI entrez gene - 18643     See in Manteia.
MGI - MGI:97549
RefSeq - NM_011072
RefSeq Peptide - NP_035202
swissprot - J3QMC2
swissprot - P62962
swissprot - Q5SX49
swissprot - Q5SX50
Ensembl - ENSMUSG00000018293
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pfn1ENSDARG00000088091Danio rerio
 PFN1ENSG00000108518Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pfn2 / Q9JJV2 / Profilin-2 / P35080*ENSMUSG0000002780562
Pfn3 / Q9DAD6 / Profilin-3 / P60673*ENSMUSG0000004444441
Gm45800ENSMUSG0000010985833


Protein motifs (from Interpro)
Interpro ID Name
 IPR005454  Profilin1/2/3, vertebrate
 IPR005455  Profilin
 IPR027310  Profilin conserved site
 IPR036140  Profilin superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001843 neural tube closure IGI
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IGI
 biological_processGO:0008064 regulation of actin polymerization or depolymerization TAS
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0010634 positive regulation of epithelial cell migration IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030837 negative regulation of actin filament polymerization IEA
 biological_processGO:0030838 positive regulation of actin filament polymerization IEA
 biological_processGO:0032232 negative regulation of actin filament bundle assembly IEA
 biological_processGO:0032233 positive regulation of actin filament bundle assembly IBA
 biological_processGO:0032781 positive regulation of ATPase activity IEA
 biological_processGO:0042989 sequestering of actin monomers TAS
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0050434 positive regulation of viral transcription IEA
 biological_processGO:0050821 protein stabilization IEA
 biological_processGO:0051054 positive regulation of DNA metabolic process IEA
 biological_processGO:0051496 positive regulation of stress fiber assembly IEA
 biological_processGO:0051497 negative regulation of stress fiber assembly IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:1900029 positive regulation of ruffle assembly IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0000774 adenyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0003785 actin monomer binding IEA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA
 molecular_functionGO:0017048 Rho GTPase binding IPI
 molecular_functionGO:0045296 cadherin binding IEA
 molecular_functionGO:0070064 proline-rich region binding IEA


Pathways (from Reactome)
Pathway description
Signaling by ROBO receptors
PCP/CE pathway
RHO GTPases Activate Formins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000069 kyphoscoliosis "kyphosis combined with scoliosis" [MGI:CML, J:66943]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0000165 abnormal hypertrophic chondrocyte zone "anomaly of the cartilage cell matrix layer " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 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: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000928 incomplete cephalic closure "arrest of the fusion of the cephalic neural folds" [J:12622]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0001307 fused cornea/lens "condition in which the transparent anterior portion of the fibrous coat of the eye is joined to the transparent biconvex cellular refractive structure lying between the iris and vitreous humor of the eye" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001890 anencephaly "absence of the bones of the cranial vault and absent or rudimentary cerebral and cerebellar hemispheres, brainstem, and basal ganglia" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:31571]
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Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0002908 delayed wound healing "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037]
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Allelic Composition: Pak1tm1.1Xwg/Pak1tm1.1Xwg,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

 MP:0003109 short femur "reduced length of the long bone of the thigh" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0003408 increased width of hypertrophic chondrocyte zone "increased width of cartilage cell matrix layer " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0003544 abnormal vascular endothelial cell migration "anomaly in the movement of endothelial cell or their precursors to the appropriate location in the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:95387]
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Allelic Composition: Pak1tm1.1Xwg/Pak1tm1.1Xwg,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0003799 impaired macrophage migration "defect in the ability of macrophages to move up a chemotactic gradient" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Pfn1tm1Wit/Pfn1+
Genetic Background: B6.129S-Ldlrtm1Her Pfn1tm1Wit

 MP:0004151 hypoferremia "less than the normal concentration of this metallic element in the blood" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
Show

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0004351 short humerus "reduced length of one or both of the bones of the forelimb that articulates with the scapula above and the radius and ulna below" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0004883 abnormal blood vessel healing "anomaly in the repair process of blood vessels after injury" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pak1tm1.1Xwg/Pak1tm1.1Xwg,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

 MP:0005338 atherosclerotic lesions "thickening and loss of elasticity of arterial walls, involving lipid deposition and thickening of intimal layers within arteries" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Tg(APOC3)3707Bres/?
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J * CBA/J

 MP:0005602 decreased angiogenesis "reduced process of blood vessel formation and the subsequent remodeling process; does not refer to the initial establishment of the vascular network" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Pak1tm1.1Xwg/Pak1tm1.1Xwg,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

Allelic Composition: Pfn1tm1Foxp/Pfn1tm1Foxp,Tg(Cdh5-cre/ERT2)1Rha/0
Genetic Background: involves: C57BL/6NTac

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0008806 increased circulating amylase level "greater concentration of a group of amylolytic enzymes that cleave starch, glycogen, and related alpha-1,4-glucans in the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:D08.811.277.450.066]
Show

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0009780 abnormal chondrocyte physiology "any functional anomaly of nondividing cartilage cells" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0010088 decreased circulating fructosamine level "decrease in the concentration in the blood of total non enzymatic glycated proteins in the blood" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 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: Pfn1tm1a(EUCOMM)Wtsi/Pfn1+
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd Pfn1tm1a(EUCOMM)Wtsi/Wtsi

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Xisttm2Nbd/Xist+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Ighg1tm1Ksho/Ighg1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1+
Genetic Background: B6.129S4-Pfn1tm1Wit

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Ighg1tm1Ksho/Ighg1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1tm1Wit
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1tm1Wit
Genetic Background: B6.129S4-Pfn1tm1Wit

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Izumo1rtm2a(KOMP)Wtsi/Izumo1rtm2a(KOMP)Wtsi
Genetic Background: C57BL/6N-Izumo1rtm2a(KOMP)Wtsi/Wtsi

 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: Ighg1tm1Ksho/Ighg1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Pfn1tm1Wit/Pfn1+
Genetic Background: B6.129S4-Pfn1tm1Wit

Allelic Composition: Ldlrtm1Her/Ldlrtm1Her,Pfn1tm1Wit/Pfn1+
Genetic Background: B6.129S-Ldlrtm1Her Pfn1tm1Wit

 MP:0011400 complete lethality "all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified" [MGI:llw2]
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Allelic Composition: Gys2tm1.1Arte/Gys2tm1.1Arte
Genetic Background: Not Specified

 MP:0014105 abnormal chondrocyte differentiation "any anomaly in the process in which a chondroblast acquires specialized structural and/or functional features of a chondrocyte" [GO:0002062]
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Allelic Composition: Dclre1ctm1Fwa/Dclre1ctm1Fwa
Genetic Background: involves: 129S6/SvEvTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000001847 Rac1 / P63001 / RAS-related C3 botulinum substrate 1 / P63000* / Rac family small GTPase 1*  / complex / reaction
 ENSMUSG00000055805 Fmnl1 / Q9JL26 / Formin-like protein 1 / O95466* / formin like 1*  / reaction / complex
 ENSMUSG00000020888 Dvl2 / Q60838 / Segment polarity DVL-2 / O14641* / dishevelled segment polarity protein 2*  / reaction / complex
 ENSMUSG00000034574 Daam1 / Q8BPM0 / Disheveled-associated activator of morphosis 1 / Q9Y4D1* / dishevelled associated activator of morphogenesis 1*  / reaction / complex






 

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