Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1759
Gene name	Dynamin 1
Gene symbol	DNM1
Synonyms (NCBI Gene)	DEE31DEE31ADEE31BDNMEIEE31
Chromosome	9
Chromosome location	9q34.11
Summary	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

Show/Hide all (28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147897973	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs527412689	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs587777860	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587777861	G>C	Pathogenic	Missense variant, coding sequence variant
rs587777862	G>C	Pathogenic	Missense variant, coding sequence variant
rs754404446	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs760270633	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057518655	->GAT	Likely-pathogenic	Coding sequence variant, inframe insertion
rs1064794773	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794828	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794903	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795360	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795538	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691877	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554772945	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554772959	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554773487	G>T	Pathogenic	Coding sequence variant, missense variant
rs1554774401	A>T	Pathogenic	Coding sequence variant, missense variant
rs1554774575	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554774587	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554774708	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781545	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781552	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1554781553	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1564328617	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1564332930	->TTCCAC	Pathogenic	Coding sequence variant, inframe insertion
rs1588352395	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1588368432	C>T	Likely-pathogenic	Coding sequence variant, stop gained

117

Show/Hide all (117)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039910	hsa-miR-615-3p	CLASH	23622248
MIRT942238	hsa-miR-224	CLIP-seq
MIRT942239	hsa-miR-2467-5p	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT942241	hsa-miR-3173-3p	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942244	hsa-miR-4252	CLIP-seq
MIRT942245	hsa-miR-4253	CLIP-seq
MIRT942246	hsa-miR-4284	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942249	hsa-miR-4695-5p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942255	hsa-miR-1286	CLIP-seq
MIRT942256	hsa-miR-134	CLIP-seq
MIRT942257	hsa-miR-214	CLIP-seq
MIRT942258	hsa-miR-3118	CLIP-seq
MIRT942259	hsa-miR-3126-5p	CLIP-seq
MIRT942260	hsa-miR-3136-5p	CLIP-seq
MIRT942261	hsa-miR-3169	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942262	hsa-miR-3529	CLIP-seq
MIRT942263	hsa-miR-3619-5p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942264	hsa-miR-379	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942265	hsa-miR-4439	CLIP-seq
MIRT942266	hsa-miR-4451	CLIP-seq
MIRT942267	hsa-miR-4513	CLIP-seq
MIRT942268	hsa-miR-4515	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942269	hsa-miR-4650-3p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942271	hsa-miR-761	CLIP-seq
MIRT1978964	hsa-miR-122	CLIP-seq
MIRT1978965	hsa-miR-1253	CLIP-seq
MIRT1978966	hsa-miR-1321	CLIP-seq
MIRT942256	hsa-miR-134	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978968	hsa-miR-2117	CLIP-seq
MIRT1978969	hsa-miR-2277-3p	CLIP-seq
MIRT942258	hsa-miR-3118	CLIP-seq
MIRT942260	hsa-miR-3136-5p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT1978972	hsa-miR-3198	CLIP-seq
MIRT1978973	hsa-miR-326	CLIP-seq
MIRT1978974	hsa-miR-330-5p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT1978975	hsa-miR-4309	CLIP-seq
MIRT1978976	hsa-miR-4432	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942265	hsa-miR-4439	CLIP-seq
MIRT1978977	hsa-miR-4481	CLIP-seq
MIRT1978978	hsa-miR-4490	CLIP-seq
MIRT942267	hsa-miR-4513	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT1978979	hsa-miR-4654	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT1978981	hsa-miR-4739	CLIP-seq
MIRT1978982	hsa-miR-4745-5p	CLIP-seq
MIRT1978983	hsa-miR-4756-5p	CLIP-seq
MIRT1978984	hsa-miR-4769-5p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT1978985	hsa-miR-4774-5p	CLIP-seq
MIRT1978986	hsa-miR-4779	CLIP-seq
MIRT1978987	hsa-miR-4787-5p	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT2214127	hsa-miR-128	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT2214128	hsa-miR-3978	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT1978967	hsa-miR-140-3p	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT1978970	hsa-miR-3154	CLIP-seq
MIRT1978971	hsa-miR-3179	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT2518432	hsa-miR-3945	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT1978980	hsa-miR-4688	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942270	hsa-miR-4738-5p	CLIP-seq
MIRT2518433	hsa-miR-4761-3p	CLIP-seq
MIRT942251	hsa-miR-4773	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq
MIRT942240	hsa-miR-3145-3p	CLIP-seq
MIRT942242	hsa-miR-3187-3p	CLIP-seq
MIRT942243	hsa-miR-3650	CLIP-seq
MIRT942247	hsa-miR-4435	CLIP-seq
MIRT942248	hsa-miR-4529-5p	CLIP-seq
MIRT942250	hsa-miR-4701-5p	CLIP-seq
MIRT942252	hsa-miR-496	CLIP-seq
MIRT942253	hsa-miR-548s	CLIP-seq
MIRT942254	hsa-miR-588	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	20428113
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	10944110
GO:0005515	Function	Protein binding	IPI	9922133, 10206341, 12791276, 15252009, 15703209, 16234328, 16432212, 17474147, 17500595, 18353773, 20935625, 21706016, 21900206, 24282027, 29949766, 31980649, 33961781, 35271311, 37871017
GO:0005525	Function	GTP binding	IEA
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	9765310
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IMP	10074457
GO:0005547	Function	Phosphatidylinositol-3,4,5-trisphosphate binding	IDA	9765310
GO:0005737	Component	Cytoplasm	IBA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005905	Component	Clathrin-coated pit	IDA	8101525
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0006897	Process	Endocytosis	IMP	19706678
GO:0006897	Process	Endocytosis	TAS	16648839
GO:0006898	Process	Receptor-mediated endocytosis	IDA	8101525
GO:0006898	Process	Receptor-mediated endocytosis	IEA
GO:0006898	Process	Receptor-mediated endocytosis	IMP	10074457, 10521508
GO:0007032	Process	Endosome organization	IMP	19706678
GO:0008017	Function	Microtubule binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0016185	Process	Synaptic vesicle budding from presynaptic endocytic zone membrane	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019003	Function	GDP binding	ISS
GO:0019901	Function	Protein kinase binding	ISS
GO:0030139	Component	Endocytic vesicle	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042583	Component	Chromaffin granule	IEA
GO:0042802	Function	Identical protein binding	IPI	20428113, 20700106, 21927000, 21962517, 26302298, 30069048
GO:0042803	Function	Protein homodimerization activity	IDA	20428113
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0051260	Process	Protein homooligomerization	IDA	9765310
GO:0051289	Process	Protein homotetramerization	IDA	9362482
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097494	Process	Regulation of vesicle size	ISS
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0099049	Process	Clathrin coat assembly involved in endocytosis	ISS
GO:0099050	Process	Vesicle scission	IDA	19084269

MIM	HGNC	e!Ensembl
602377	2972	ENSG00000106976

Q05193

Protein name

Dynamin-1 (EC 3.6.5.5) (Dynamin) (Dynamin I)

Protein function

Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission and participates in many forms of endocytosis, such as clathrin-mediated endocytosis or synaptic vesicle endocytosis as well as rapid endocytosis (RE) (PubMed:1

PDB

1DYN , 2DYN , 2X2E , 2X2F , 3SNH , 3ZYC , 3ZYS , 4UUD , 4UUK , 5D3Q , 6DLU , 6DLV , 6S9A , 7AX3 , 8SXZ , 8SZ4 , 8SZ7 , 8SZ8 , 8T0K , 8T0R , 8TYM , 8TYN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00350	Dynamin_N	34 → 207	Dynamin family	Domain
PF01031	Dynamin_M	216 → 502	Dynamin central region	Family
PF00169	PH	520 → 624	PH domain	Domain
PF02212	GED	654 → 745	Dynamin GTPase effector domain	Family

Sequence

MGNRGMEDLIPLVNRLQDAFSAIGQNADLDLPQIAVVGGQSAGKSSVLENFVGRDFLPRG
SGIVTRRPLVLQLVNATTEYAEFLHCKGKKFTDFEEVRLEIEAETDRVTGTNKGISPVPI
NLRVYSPHVLNLTLVDLPGMTKVPVGDQPPDIEFQIRDMLMQFVTKENCLILAVSPANSD
LANSDALKVAKEVDPQGQRTIGVITKLDLMDEGTDARDVLENKLLPLRRGYIGVVNRSQK
DIDGKKDITAALAAERKFFLSHPSYRHLADRMGTPYLQKVLNQQLTNHIRDTLPGLRNKL
QSQLLSIEKEVEEYKNFRPDDPARKTKALLQMVQQFAVDFEKRIEGSGDQIDTYELSGGA
RINRIFHERFPFELVKMEFDEKELRREISYAIKNIHGIRTGLFTPDMAFETIVKKQVKKI
REPCLKCVDMVISELISTVRQCTKKLQQYPRLREEMERIVTTHIREREGRTKEQVMLLID
IELAYMNTNHEDFIGFANAQQRSNQMNKKKTSGNQDEILVIRKGWLTINNIGIMKGGSKE
YWFVLTAENLSWYKDDEEKEKKYMLSVDNLKLRDVEKGFMSSKHIFALFNTEQRNVYKDY
RQLELACETQEEVDSWKASFLRAGVYPERVGDKEKASETEENGSDSFMHSMDPQLERQVE
TIRNLVDSYMAIVNKTVRDLMPKTIMHLMINNTKEFIFSELLANLYSCGDQNTLMEESAE
QAQRRDEMLRMYHALKEALSIIGDINTTTVSTPMPPPVDDSWLQVQSVPAGRRSPTSSPT
PQRRAPAVPPARPGSRGPAPGPPPAGSALGGAPPVPSRPGASPDPFGPPPQVPSRPNRAP
PGVPSRSGQASPSRPESPRPPFDL

Sequence length

864

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption Bacterial invasion of epithelial cells		Toll Like Receptor 4 (TLR4) Cascade Gap junction degradation Formation of annular gap junctions MHC class II antigen presentation EPH-ephrin mediated repulsion of cells Recycling pathway of L1 Clathrin-mediated endocytosis

731

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Pathogenic	rs1588368432	RCV005603822
Developmental and epileptic encephalopathy, 1	Likely pathogenic; Pathogenic	rs747079285	RCV001824808
Developmental and epileptic encephalopathy, 31A	Likely pathogenic; Pathogenic	rs2131283599, rs2131158061, rs2131297826, rs2131175203, rs747024881, rs587777860, rs587777861, rs587777862, rs2539114371, rs1323426610, rs2538979366, rs2538984042, rs1554774401, rs2539074151, rs869312702 View all (19 more)	RCV001379231 RCV001881516 RCV001987575 RCV002005077 RCV001971124 RCV000144707 RCV000144708 RCV000144709 RCV002465419 RCV002466317 RCV002466318 RCV002466319 RCV000170499 RCV003025554 RCV000209889 RCV003140422 RCV000170498 RCV003337802 RCV003590102 RCV003754781 RCV000415220 RCV002286525 RCV000585873 RCV000623650 RCV001823739 RCV001049240 RCV000696555 RCV000653150 RCV000653152 RCV000714522 RCV001027699 RCV001056857 RCV001243961 RCV001262676 RCV001309327
Developmental and epileptic encephalopathy, 31B	Pathogenic	rs1458807270, rs2538976726, rs1588368432	RCV003224769 RCV003224771 RCV003224770
DNM1-related disorder	Likely pathogenic	rs2538974447	RCV003402391
Lennox-Gastaut syndrome	Pathogenic	rs2538983876	RCV002284151
Seizure	Likely pathogenic; Pathogenic	rs1131691877	RCV005624407
West syndrome	Pathogenic	rs2538983876	RCV002284151

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs527820256	RCV005912500
Clear cell carcinoma of kidney	Likely benign	rs142432944	RCV005898119
Developmental disorder	Uncertain significance	rs2131226916	RCV001843725
See cases	Uncertain significance	rs752917058, rs773592845	RCV002252999 RCV002287801

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	30529763
Autistic Disorder	Associate	29397573
Basal Ganglia Diseases	Associate	26611353
Brain Diseases	Associate	25262651, 26611353, 26648591, 27476654, 28667181, 29397573, 35184021, 36553519
Carcinoma Hepatocellular	Stimulate	32573516
Cardiomyopathy Dilated	Associate	34888380
Cardiomyopathy Hypertrophic	Associate	34888380
Colorectal Neoplasms	Associate	34888380
Developmental Disabilities	Associate	26611353, 28667181, 29397573, 36358993
Diabetes Mellitus Type 2	Associate	32041280
Early Onset Glaucoma	Associate	29390993
Epilepsy	Associate	26795593, 28667181, 39925045
Epileptic Encephalopathy Early Infantile 3	Associate	34172529, 36413998, 36553519, 39925045
Glioblastoma	Associate	24068912
Hyperkinesis	Associate	40717768
Intellectual Disability	Associate	26611353, 28667181, 29397573, 39925045
Leigh Disease	Associate	40717768
Lennox Gastaut Syndrome	Associate	26611353, 28667181
Lymphatic Metastasis	Stimulate	34888380
Marfan Syndrome	Associate	32783137
Mitochondrial Diseases	Associate	40717768
Muscle Hypotonia	Associate	26611353, 28667181
Neoplasms	Associate	31043431, 34888380
Neurobehavioral Manifestations	Associate	29397573
Neurodegenerative Diseases	Associate	24673776
Night blindness congenital stationary	Associate	39925045
Norrie disease	Associate	32041280
Retinal Diseases	Associate	39925045
Rett Syndrome	Associate	20420693
Seizures	Associate	26611353
Spasms Infantile	Associate	26611353, 28667181
Tarlov Cysts	Stimulate	34888380
Vision Disorders	Associate	39925045

DNM1 (dynamin 1)