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    DNM3 dynamin 3 [ Homo sapiens (human) ]

    Gene ID: 26052, updated on 17-Jun-2024

    Summary

    Official Symbol
    DNM3provided by HGNC
    Official Full Name
    dynamin 3provided by HGNC
    Primary source
    HGNC:HGNC:29125
    See related
    Ensembl:ENSG00000197959 MIM:611445; AllianceGenome:HGNC:29125
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Dyna III
    Summary
    This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
    Expression
    Biased expression in brain (RPKM 10.0), adrenal (RPKM 2.5) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNM3 in Genome Data Viewer
    Location:
    1q24.3
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (171841498..172418466)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (171198091..171775179)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (171810638..172387606)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171786162-171787148 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171787149-171788134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2086 Neighboring gene ribosomal protein S15 pseudogene 3 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:171840934-171841454 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2087 Neighboring gene DNM3 intronic transcript 1 Neighboring gene MPRA-validated peak455 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:171911601-171912102 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:171935008-171935684 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:171935685-171936361 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:171952925-171953114 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:172025253-172025838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2088 Neighboring gene microRNA 199a-2 Neighboring gene microRNA 3120 Neighboring gene DNM3 opposite strand/antisense RNA Neighboring gene microRNA 214 Neighboring gene MPRA-validated peak456 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:172247487-172248141 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:172300102-172300228 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2090 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:172329514-172330140 Neighboring gene uncharacterized LOC102724528 Neighboring gene RNA, U6 small nuclear 157, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:172397968-172398490 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:172413041-172413564 Neighboring gene chromosome 1 open reading frame 105 Neighboring gene Sharpr-MPRA regulatory region 10840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466106-172466606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172466607-172467107 Neighboring gene Sharpr-MPRA regulatory region 5023 Neighboring gene Sharpr-MPRA regulatory region 3225 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2092 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2093 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2094 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:172539927-172540926 Neighboring gene SUN domain containing ossification factor

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
    EBI GWAS Catalog
    A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog
    New gene functions in megakaryopoiesis and platelet formation.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of DNM3 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag Dynamin-dependent endocytosis is required for intracellular accumulation of HIV-1 Gag in the presence of HLA-DR PubMed
    gag HIV-1 Gag co-localizes with dynamin in primary T lymphocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0820, MGC70433

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables nitric-oxide synthase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables structural constituent of postsynapse IEA
    Inferred from Electronic Annotation
    more info
     
    enables type 1 metabotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables type 5 metabotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in endocytosis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in filopodium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of dendritic spine morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synaptic vesicle recycling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic neurotransmitter receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in receptor internalization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synapse assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in synaptic vesicle budding from presynaptic endocytic zone membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    part_of apical tubulobulbar complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon IEA
    Inferred from Electronic Annotation
    more info
     
    part_of basal tubulobulbar complex IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in dendritic spine head IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic density ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in postsynaptic endocytic zone membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic cleft IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dynamin-3
    Names
    T-dynamin
    dynamin family member
    dynamin, testicular
    NP_001129599.1
    NP_001265181.1
    NP_001337133.1
    NP_001337134.1
    NP_001337135.1
    NP_056384.2
    XP_005245136.1
    XP_016856465.1
    XP_016856466.1
    XP_016856467.1
    XP_016856468.1
    XP_016856469.1
    XP_016856471.1
    XP_016856473.1
    XP_016856474.1
    XP_016856475.1
    XP_016856477.1
    XP_016856478.1
    XP_016856480.1
    XP_016856481.1
    XP_047273345.1
    XP_047273351.1
    XP_047273355.1
    XP_047273365.1
    XP_047273373.1
    XP_054191855.1
    XP_054191856.1
    XP_054191857.1
    XP_054191858.1
    XP_054191859.1
    XP_054191860.1
    XP_054191861.1
    XP_054191862.1
    XP_054191863.1
    XP_054191864.1
    XP_054191865.1
    XP_054191866.1
    XP_054191867.1
    XP_054191868.1
    XP_054191869.1
    XP_054191870.1
    XP_054191871.1
    XP_054191872.1
    XP_054191873.1

    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_001136127.3NP_001129599.1  dynamin-3 isoform b

      See identical proteins and their annotated locations for NP_001129599.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      AB020627, AL035110, AL136712, BC037326, DC334207, Z97195
      Consensus CDS
      CCDS44276.1
      UniProtKB/Swiss-Prot
      Q9UQ16
      Related
      ENSP00000356705.1, ENST00000367731.5
      Conserved Domains (6) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      COG0699
      Location:79728
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      cd01256
      Location:514625
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:217502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:647735
      GED; Dynamin GTPase effector domain
      cl22974
      Location:762822
      HpaP; Type III secretion protein (HpaP)
    2. NM_001278252.2NP_001265181.1  dynamin-3 isoform c

      See identical proteins and their annotated locations for NP_001265181.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      BC064546, DC334207
      Consensus CDS
      CCDS60356.1
      UniProtKB/TrEMBL
      B3KPF2
      Related
      ENSP00000356707.2, ENST00000367733.6
      Conserved Domains (3) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      pfam01031
      Location:216501
      Dynamin_M; Dynamin central region
      cl17171
      Location:514553
      PH-like; Pleckstrin homology-like domain
    3. NM_001350204.2NP_001337133.1  dynamin-3 isoform d

      Status: REVIEWED

      Source sequence(s)
      AB020627, AL035110, AL136712, AL512843, BC037326, DC334207, Z97195
      Consensus CDS
      CCDS86032.1
      UniProtKB/Swiss-Prot
      A9Z1Y1, O14982, O95555, Q1MTM8, Q5W129, Q6P2G1, Q9H0P3, Q9H548, Q9NQ68, Q9NQN6, Q9UQ16
      Related
      ENSP00000347457.5, ENST00000355305.9
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      cd01256
      Location:526635
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216501
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
      cl26464
      Location:754841
      Atrophin-1; Atrophin-1 family
    4. NM_001350205.2NP_001337134.1  dynamin-3 isoform e

      Status: REVIEWED

      Source sequence(s)
      AL512843, BC064546, DC334207
      UniProtKB/TrEMBL
      B3KPF2
      Conserved Domains (3) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      pfam01031
      Location:216501
      Dynamin_M; Dynamin central region
      cl17171
      Location:526563
      PH-like; Pleckstrin homology-like domain
    5. NM_001350206.2NP_001337135.1  dynamin-3 isoform f

      Status: REVIEWED

      Source sequence(s)
      AB020627, AL035110, AL512843, CA445187, DC334207
      Consensus CDS
      CCDS91107.1
      UniProtKB/TrEMBL
      H0YBC6
      Related
      ENSP00000429165.2, ENST00000485254.3
      Conserved Domains (5) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      cd01256
      Location:526635
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:216501
      Dynamin_M; Dynamin central region
      pfam02212
      Location:657745
      GED; Dynamin GTPase effector domain
      cl26464
      Location:754838
      Atrophin-1; Atrophin-1 family
    6. NM_015569.5NP_056384.2  dynamin-3 isoform a

      See identical proteins and their annotated locations for NP_056384.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB020627, AL035110, AL136712, BC037326, DC334207, Z97195
      Consensus CDS
      CCDS53431.1
      UniProtKB/Swiss-Prot
      Q9UQ16
      Related
      ENSP00000486701.1, ENST00000627582.3
      Conserved Domains (6) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      COG0699
      Location:79732
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      cd01256
      Location:514625
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:217502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:651739
      GED; Dynamin GTPase effector domain
      cl22974
      Location:766826
      HpaP; Type III secretion protein (HpaP)

    RNA

    1. NR_146559.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB020627, AL035110, AL136712, AL512843, BC037326, DC334207, Z97195

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      171841498..172418466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000979.2XP_016856468.1  dynamin-3 isoform X4

    2. XM_017000984.2XP_016856473.1  dynamin-3 isoform X8

    3. XM_047417389.1XP_047273345.1  dynamin-3 isoform X10

    4. XM_017000976.2XP_016856465.1  dynamin-3 isoform X1

    5. XM_017000977.2XP_016856466.1  dynamin-3 isoform X2

    6. XM_005245079.2XP_005245136.1  dynamin-3 isoform X6

      UniProtKB/Swiss-Prot
      Q9UQ16
      Conserved Domains (6) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      COG0699
      Location:79742
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      cd01256
      Location:526635
      PH_dynamin; Dynamin pleckstrin homology (PH) domain
      pfam01031
      Location:217502
      Dynamin_M; Dynamin central region
      pfam02212
      Location:661749
      GED; Dynamin GTPase effector domain
      cl22974
      Location:776836
      HpaP; Type III secretion protein (HpaP)
    7. XM_017000982.3XP_016856471.1  dynamin-3 isoform X7

    8. XM_017000978.2XP_016856467.1  dynamin-3 isoform X3

    9. XM_017000985.2XP_016856474.1  dynamin-3 isoform X9

    10. XM_047417399.1XP_047273355.1  dynamin-3 isoform X14

      UniProtKB/TrEMBL
      B3KPF2
    11. XM_047417417.1XP_047273373.1  dynamin-3 isoform X17

      UniProtKB/TrEMBL
      B3KPF2
      Related
      ENSP00000429701.1, ENST00000520906.5
    12. XM_017000991.2XP_016856480.1  dynamin-3 isoform X16

      UniProtKB/TrEMBL
      B3KPF2
      Conserved Domains (3) summary
      smart00053
      Location:6245
      DYNc; Dynamin, GTPase
      COG0699
      Location:79500
      CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]
      pfam01031
      Location:217502
      Dynamin_M; Dynamin central region
    13. XM_017000989.2XP_016856478.1  dynamin-3 isoform X15

      UniProtKB/TrEMBL
      B3KPF2
    14. XM_017000988.2XP_016856477.1  dynamin-3 isoform X12

      UniProtKB/TrEMBL
      B3KPF2
    15. XM_047417395.1XP_047273351.1  dynamin-3 isoform X13

      UniProtKB/TrEMBL
      B3KPF2
    16. XM_047417409.1XP_047273365.1  dynamin-3 isoform X16

      UniProtKB/TrEMBL
      B3KPF2
    17. XM_017000992.2XP_016856481.1  dynamin-3 isoform X18

      UniProtKB/TrEMBL
      B3KPF2
    18. XM_017000980.2XP_016856469.1  dynamin-3 isoform X5

    19. XM_017000986.2XP_016856475.1  dynamin-3 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      171198091..171775179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335883.1XP_054191858.1  dynamin-3 isoform X4

    2. XM_054335889.1XP_054191864.1  dynamin-3 isoform X10

    3. XM_054335887.1XP_054191862.1  dynamin-3 isoform X8

    4. XM_054335880.1XP_054191855.1  dynamin-3 isoform X1

    5. XM_054335881.1XP_054191856.1  dynamin-3 isoform X2

    6. XM_054335885.1XP_054191860.1  dynamin-3 isoform X6

    7. XM_054335882.1XP_054191857.1  dynamin-3 isoform X3

    8. XM_054335886.1XP_054191861.1  dynamin-3 isoform X7

    9. XM_054335888.1XP_054191863.1  dynamin-3 isoform X9

    10. XM_054335893.1XP_054191868.1  dynamin-3 isoform X14

      UniProtKB/TrEMBL
      B3KPF2
    11. XM_054335897.1XP_054191872.1  dynamin-3 isoform X17

      UniProtKB/TrEMBL
      B3KPF2
    12. XM_054335896.1XP_054191871.1  dynamin-3 isoform X16

      UniProtKB/TrEMBL
      B3KPF2
    13. XM_054335894.1XP_054191869.1  dynamin-3 isoform X15

      UniProtKB/TrEMBL
      B3KPF2
    14. XM_054335891.1XP_054191866.1  dynamin-3 isoform X12

      UniProtKB/TrEMBL
      B3KPF2
    15. XM_054335892.1XP_054191867.1  dynamin-3 isoform X13

      UniProtKB/TrEMBL
      B3KPF2
    16. XM_054335895.1XP_054191870.1  dynamin-3 isoform X16

      UniProtKB/TrEMBL
      B3KPF2
    17. XM_054335898.1XP_054191873.1  dynamin-3 isoform X18

      UniProtKB/TrEMBL
      B3KPF2
    18. XM_054335884.1XP_054191859.1  dynamin-3 isoform X5

    19. XM_054335890.1XP_054191865.1  dynamin-3 isoform X11