ENSMUSG00000040276


Mus musculus

Features
Gene ID: ENSMUSG00000040276
  
Biological name :Pacsin1
  
Synonyms : Pacsin1 / Protein kinase C and casein kinase substrate in neurons protein 1 / Q61644
  
Possible biological names infered from orthology : protein kinase C and casein kinase substrate in neurons 1 / Q9BY11
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A3.3
Gene start: 27655509
Gene end: 27711106
  
Corresponding Affymetrix probe sets: 10443201 (MoGene1.0st)   1449380_at (Mouse Genome 430 2.0 Array)   1449381_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000044168
Ensembl peptide - ENSMUSP00000094973
Ensembl peptide - ENSMUSP00000110522
Ensembl peptide - ENSMUSP00000110523
NCBI entrez gene - 23969     See in Manteia.
MGI - MGI:1345181
RefSeq - XM_011246431
RefSeq - NM_001286743
RefSeq - NM_001286744
RefSeq - NM_011861
RefSeq - NM_178365
RefSeq - XM_006524226
RefSeq Peptide - NP_035991
RefSeq Peptide - NP_848142
RefSeq Peptide - NP_001273672
RefSeq Peptide - NP_001273673
swissprot - Q543Y7
swissprot - Q61644
Ensembl - ENSMUSG00000040276
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pacsin1aENSDARG00000032865Danio rerio
 Q4V920ENSDARG00000042128Danio rerio
 PACSIN1ENSGALG00000002802Gallus gallus
 Q9BY11ENSG00000124507Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9WVE8 / Pacsin2 / protein kinase C and casein kinase substrate in neurons 2 / Q9UNF0*ENSMUSG0000001666468
Q99JB8 / Pacsin3 / Protein kinase C and casein kinase II substrate protein 3 / Q9UKS6* / protein kinase C and casein kinase substrate in neurons 3*ENSMUSG0000002725748


Protein motifs (from Interpro)
Interpro ID Name
 IPR001060  FCH domain
 IPR001452  SH3 domain
 IPR027267  AH/BAR domain superfamily
 IPR028518  Protein kinase C and casein kinase substrate in neurons protein 1
 IPR031160  F-BAR domain
 IPR035743  PACSIN1/PACSIN2, SH3 domain
 IPR036028  SH3-like domain superfamily
 IPR037454  PACSIN1, F-BAR


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0045806 negative regulation of endocytosis IDA
 biological_processGO:0048488 synaptic vesicle endocytosis IMP
 biological_processGO:0048666 neuron development IEA
 biological_processGO:0048812 neuron projection morphogenesis IBA
 biological_processGO:0072657 protein localization to membrane IMP
 biological_processGO:0097320 plasma membrane tubulation ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IBA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030137 COPI-coated vesicle IDA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0032587 ruffle membrane IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043209 myelin sheath IDA
 cellular_componentGO:0043679 axon terminus ISS
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding IDA
 molecular_functionGO:0008092 cytoskeletal protein binding IDA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0042802 identical protein binding IPI


Pathways (from Reactome)
Pathway description
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0002917 decreased synaptic depression "decrease in the duration of the reduction of effectiveness of synaptic connections between neurons and target after repetitive stimulation" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0002945 abnormal inhibitory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0004769 abnormal synaptic vesicle morphology "any structural anomaly of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0004770 abnormal synaptic vesicle recycling "any functional anomaly in the process of the fusion of a subpopulation of synaptic vesicles with the cell membrane at the active zone, the subsequent endocytosis back from the plasma membrane, the refilling of these vesicles with neurotransmitters, and trafficking back to the active zone pool of vesicles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0008546 abnormal vesicle-mediated transport "anomaly in the directed movement of substances, either within a vesicle or in the vesicle membrane, into, out of or within a cell" [GO:0016192]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0008563 decreased interferon-alpha secretion "increase in the production or release of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250]
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Allelic Composition: Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic Background: C.129-Traf3ip2tm1.1Lix

 MP:0008574 decreased circulating interferon-alpha level "reduction in the amount in the blood of one of the type I interferons produced by peripheral blood leukocytes or lymphoblastoid cells that has antiviral activity and activates natural killer cells and B cells" [MESH:D12.644.276.374.440.890.250]
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Allelic Composition: Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic Background: C.129-Traf3ip2tm1.1Lix

 MP:0008769 abnormal plasmacytoid dendritic cell physiology "any functional anomaly of phagocytic dendritic cells that are morphologically similar to plasma cells, but do not express B lineage markers, and produce large amounts of alpha/beta interferons (IFN-/) in response to viral and bacterial stimuli; plasmacytoid dendritic cells are found in the thymic medulla and lymph node T cell areas and are responsible for immune tolerance" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Traf3ip2tm1.1Lix/Traf3ip2tm1.1Lix
Genetic Background: C.129-Traf3ip2tm1.1Lix

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0011270 decreased excitatory postsynaptic current amplitude "reduction in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

 MP:0020082 increased hippocampus volume "deviation from the average range of the hippocampus volume compared to normal" [GOC:NV]
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Allelic Composition: PfasSofa-6J/Pfas+
Genetic Background: C57BL/6J-PfasSofa-6J/GrsrJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000040276 Q61644 / Pacsin1 / Protein kinase C and casein kinase substrate in neurons protein 1 / Q9BY11* / protein kinase C and casein kinase substrate in neurons 1*  / complex






 

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