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    Dnm1 dynamin 1 [ Mus musculus (house mouse) ]

    Gene ID: 13429, updated on 27-Jul-2021

    Summary

    Official Symbol
    Dnm1provided by MGI
    Official Full Name
    dynamin 1provided by MGI
    Primary source
    MGI:MGI:107384
    See related
    Ensembl:ENSMUSG00000026825
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Dnm; Ftf; Ftfl; AI838169; mKIAA4093
    Summary
    This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein is a GTPase which is required for membrane recycling, including vesicle endocytosis in neurons. It may also be involved in cellular fission via association with microtubules and actin filaments. Mutations in this gene have been shown to cause seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
    Expression
    Biased expression in cerebellum adult (RPKM 188.3), cortex adult (RPKM 160.9) and 14 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Dnm1 in Genome Data Viewer
    Location:
    2 B; 2 22.09 cM
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32198483..32243361, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32308471..32353349, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (32163991..32208824, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene SWI5 recombination repair homolog (yeast) Neighboring gene golgi autoantigen, golgin subfamily a, 2 Neighboring gene microRNA 3154 Neighboring gene microRNA 199b Neighboring gene predicted gene, 52590 Neighboring gene predicted gene, 39787

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA4093

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables D2 dopamine receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables SH3 domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables nitric-oxide synthase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein C-terminus binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult locomotory behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in modulation of chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of synaptic vesicle recycling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in receptor internalization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in receptor-mediated endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of synaptic vesicle endocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within synaptic transmission, GABAergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in synaptic vesicle budding from presynaptic endocytic zone membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within toxin transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of membrane coat IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in myelin sheath HDA PubMed 
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in photoreceptor ribbon synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in photoreceptor ribbon synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynaptic endocytic zone membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynaptic endocytic zone membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in presynaptic endocytic zone membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in varicosity ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    dynamin-1
    NP_001288666.1
    NP_001355608.1
    NP_034195.2
    XP_006497712.2
    XP_006497713.2
    XP_006497716.2
    XP_006497717.2
    XP_006497718.2
    XP_006497721.2
    XP_006497722.2
    XP_006497723.2
    XP_006497724.2
    XP_006497725.1
    XP_017170817.1
    XP_036013974.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001301737.1NP_001288666.1  dynamin-1 isoform 2

      See identical proteins and their annotated locations for NP_001288666.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, one of which results in a frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. This variant contains the alternate "a" exon in the central coding region and the "b" splicing pattern in the 3' coding region (PMID:10398046, PMID:20700442).
      Source sequence(s)
      AK011651, AL808027, BC034679, BQ179370, BY297150, CA328097, CO425806
      Consensus CDS
      CCDS79772.1
      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000077461.6, ENSMUST00000078352.12
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    2. NM_001368679.1NP_001355608.1  dynamin-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two alternate exons in the mid-coding region and uses an alternate acceptor splice site at the 3' terminal exon compared to variant one. The resulting isoform (3) is longer than isoform 1.
      Source sequence(s)
      AL808027
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752863
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:656745
      GED; Dynamin GTPase effector domain
    3. NM_010065.3NP_034195.2  dynamin-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). This variant contains the alternate "b" exon in the central coding region and the "a" splicing pattern in the 3' coding region (PMID:10398046, PMID:20700442).
      Source sequence(s)
      AA387428, AI894003, AK011651, BC058623, BE860433, BM950315, BY297150, CX239206
      Consensus CDS
      CCDS38102.1
      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000088618.6, ENSMUST00000091089.12
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      cd01256
      Location:514625
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216501
      Dynamin_M; Dynamin central region
      pfam02212
      Location:653741
      GED; Dynamin GTPase effector domain
      cl26464
      Location:743860
      Atrophin-1; Atrophin-1 family

    RNA

    1. NR_125959.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate exons in the central region and uses an alternate splice site in the 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant contains the alternate "b" exon in the central region (PMID:20700442).
      Source sequence(s)
      BC034679, BY297150
      Related
      ENSMUST00000139624.8

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      32198483..32243361 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006497654.4XP_006497717.2  dynamin-1 isoform X4

      See identical proteins and their annotated locations for XP_006497717.2

      UniProtKB/TrEMBL
      A0A0J9YUN4
      Related
      ENSMUSP00000144264.2, ENSMUST00000201433.4
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03247
      Location:747844
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    2. XM_006497649.3XP_006497712.2  dynamin-1 isoform X1

      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03247
      Location:747864
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:656745
      GED; Dynamin GTPase effector domain
    3. XM_006497659.4XP_006497722.2  dynamin-1 isoform X7

      See identical proteins and their annotated locations for XP_006497722.2

      UniProtKB/Swiss-Prot
      P39053
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    4. XM_006497655.4XP_006497718.2  dynamin-1 isoform X5

      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000108992.2, ENSMUST00000113365.8
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03247
      Location:747844
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    5. XM_036158081.1XP_036013974.1  dynamin-1 isoform X3

      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752863
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    6. XM_006497661.3XP_006497724.2  dynamin-1 isoform X8

      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000108977.2, ENSMUST00000113350.8
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    7. XM_006497653.4XP_006497716.2  dynamin-1 isoform X6

      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03247
      Location:743860
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:514625
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:652741
      GED; Dynamin GTPase effector domain
    8. XM_006497658.4XP_006497721.2  dynamin-1 isoform X7

      See identical proteins and their annotated locations for XP_006497721.2

      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000143955.2, ENSMUST00000202578.4
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    9. XM_006497650.4XP_006497713.2  dynamin-1 isoform X2

      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03247
      Location:747864
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:656745
      GED; Dynamin GTPase effector domain
    10. XM_017315328.2XP_017170817.1  dynamin-1 isoform X8

      UniProtKB/Swiss-Prot
      P39053
      Related
      ENSMUSP00000108979.3, ENSMUST00000113352.9
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
    11. XM_006497662.3XP_006497725.1  dynamin-1 isoform X9

      Conserved Domains (5) summary
      cd08771
      Location:100340
      DLP_1; Dynamin_like protein family includes dynamins and Mx proteins
      PHA03247
      Location:793910
      PHA03247; large tegument protein UL36; Provisional
      cd01256
      Location:566675
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:262548
      Dynamin_M; Dynamin central region
      pfam02212
      Location:702791
      GED; Dynamin GTPase effector domain
    12. XM_006497660.3XP_006497723.2  dynamin-1 isoform X7

      See identical proteins and their annotated locations for XP_006497723.2

      UniProtKB/Swiss-Prot
      P39053
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      PHA03378
      Location:752844
      PHA03378; EBNA-3B; Provisional
      cd01256
      Location:520629
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain

    RNA

    1. XR_374055.3 RNA Sequence

    2. XR_004938046.1 RNA Sequence

    3. XR_001780675.2 RNA Sequence

    4. XR_004938043.1 RNA Sequence

    5. XR_004938042.1 RNA Sequence

    6. XR_004938044.1 RNA Sequence

    7. XR_374058.5 RNA Sequence

    8. XR_374057.4 RNA Sequence

    9. XR_001780678.3 RNA Sequence

    10. XR_003950433.2 RNA Sequence

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