• Gene id: 1759

Gene Summary

• Gene Symbol: DNM1   Gene   UCSC   Ensembl
• Aliases: DNM, EIEE31
• Gene name: dynamin 1
• Alternate names: dynamin-1,
• Gene location: 9q34.11 (128203378: 128255243)     Exons: 24     NC_000009.12
• Gene summary(Entrez): This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular traffic

Protein Summary

• Protein general information: Q05193  
  • Name: Dynamin 1 (EC 3.6.5.5)
  • Length: 864  
  • Mass: 97408
• Sequence:

  MGNRGMEDLIPLVNRLQDAFSAIGQNADLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLVLQLVN
  ATTEYAEFLHCKGKKFTDFEEVRLEIEAETDRVTGTNKGISPVPINLRVYSPHVLNLTLVDLPGMTKVPVGDQPP
  DIEFQIRDMLMQFVTKENCLILAVSPANSDLANSDALKVAKEVDPQGQRTIGVITKLDLMDEGTDARDVLENKLL
  PLRRGYIGVVNRSQKDIDGKKDITAALAAERKFFLSHPSYRHLADRMGTPYLQKVLNQQLTNHIRDTLPGLRNKL
  QSQLLSIEKEVEEYKNFRPDDPARKTKALLQMVQQFAVDFEKRIEGSGDQIDTYELSGGARINRIFHERFPFELV
  KMEFDEKELRREISYAIKNIHGIRTGLFTPDMAFETIVKKQVKKIREPCLKCVDMVISELISTVRQCTKKLQQYP
  RLREEMERIVTTHIREREGRTKEQVMLLIDIELAYMNTNHEDFIGFANAQQRSNQMNKKKTSGNQDEILVIRKGW
  LTINNIGIMKGGSKEYWFVLTAENLSWYKDDEEKEKKYMLSVDNLKLRDVEKGFMSSKHIFALFNTEQRNVYKDY
  RQLELACETQEEVDSWKASFLRAGVYPERVGDKEKASETEENGSDSFMHSMDPQLERQVETIRNLVDSYMAIVNK
  TVRDLMPKTIMHLMINNTKEFIFSELLANLYSCGDQNTLMEESAEQAQRRDEMLRMYHALKEALSIIGDINTTTV
  STPMPPPVDDSWLQVQSVPAGRRSPTSSPTPQRRAPAVPPARPGSRGPAPGPPPAGSALGGAPPVPSRPGASPDP
  FGPPPQVPSRPNRAPPGVPSRSGQASPSRPESPRPPFDL

• Structural information:
  • Protein Domains: (28..29-)
    (/note="Dynamin-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01055-)
    (519..62-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (659..75-)
    (/note="GED-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00720"-)
  • Interpro: IPR027741  IPR000375  IPR001401  IPR019762  IPR022812   IPR030381  IPR003130  IPR020850  IPR027417  IPR011993  IPR001849  
  • Prosite: PS00410 PS51718 PS51388 PS50003
  • CDD: cd08771
  • PDB: 1DYN 2DYN 2X2E 2X2F 3SNH 3ZYC 3ZYS 4UUD 4UUK 5D3Q 6DLU 6DLV
  • PDBsum: 1DYN 2DYN 2X2E 2X2F 3SNH 3ZYC 3ZYS 4UUD 4UUK 5D3Q 6DLU 6DLV
  • DIP: 36242
  • STRING: ENSP00000362014
• Other Databases: GeneCards:  DNM1  Malacards:  DNM1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019901	protein kinase binding	ISS	molecular function
GO:0006897	endocytosis	TAS	biological process
GO:0061025	membrane fusion	IBA	biological process
GO:0050803	regulation of synapse structure or activity	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0016185	synaptic vesicle budding from presynaptic endocytic zone membrane	IBA	biological process
GO:0015630	microtubule cytoskeleton	IBA	cellular component
GO:0008017	microtubule binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0000266	mitochondrial fission	IBA	biological process
GO:0098884	postsynaptic neurotransmitter receptor internalization	IBA	biological process
GO:0098844	postsynaptic endocytic zone membrane	IBA	cellular component
GO:0048285	organelle fission	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0045202	synapse	IBA	cellular component
GO:0044327	dendritic spine head	IBA	cellular component
GO:0043197	dendritic spine	IBA	cellular component
GO:0031966	mitochondrial membrane	IBA	cellular component
GO:0031623	receptor internalization	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0014069	postsynaptic density	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0003924	GTPase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098835	presynaptic endocytic zone membrane	IEA	cellular component
GO:0098684	photoreceptor ribbon synapse	IEA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0030117	membrane coat	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:1903423	positive regulation of synaptic vesicle recycling	IEA	biological process
GO:1900242	regulation of synaptic vesicle endocytosis	IEA	biological process
GO:0098835	presynaptic endocytic zone membrane	IEA	cellular component
GO:0050998	nitric-oxide synthase binding	IEA	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0043196	varicosity	IEA	cellular component
GO:0042802	identical protein binding	IEA	molecular function
GO:0031623	receptor internalization	IEA	biological process
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0002031	G protein-coupled receptor internalization	IEA	biological process
GO:1901998	toxin transport	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0016185	synaptic vesicle budding from presynaptic endocytic zone membrane	IEA	biological process
GO:1904645	response to amyloid-beta	IEA	biological process
GO:1900244	positive regulation of synaptic vesicle endocytosis	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0031749	D2 dopamine receptor binding	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0008022	protein C-terminus binding	IEA	molecular function
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0007032	endosome organization	IMP	biological process
GO:0006897	endocytosis	IMP	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0006898	receptor-mediated endocytosis	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04072	Phospholipase D signaling pathway
hsa04721	Synaptic vesicle cycle
hsa05100	Bacterial invasion of epithelial cells
hsa04961	Endocrine and other factor-regulated calcium reabsorption
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map
P06959	CCKR signaling map

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Early infantile epileptic encephalopathy	KEGG:H00606
Alzheimer's disease	PMID:20847448
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq