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DNM1 dynamin 1 [ Homo sapiens (human) ]

Gene ID: 1759, updated on 4-Jun-2020

Summary

Official Symbol
DNM1provided by HGNC
Official Full Name
dynamin 1provided by HGNC
Primary source
HGNC:HGNC:2972
See related
Ensembl:ENSG00000106976 MIM:602377
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
DNM; EIEE31
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 trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 103.8) and gall bladder (RPKM 8.7) See more
Orthologs

Genomic context

See DNM1 in Genome Data Viewer
Location:
9q34.11
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128203379..128255244)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (130965634..131017528)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene lipocalin 2 Neighboring gene chromosome 9 open reading frame 16 Neighboring gene CDKN1A interacting zinc finger protein 1 Neighboring gene Sharpr-MPRA regulatory region 8497 Neighboring gene microRNA 199b Neighboring gene microRNA 3154 Neighboring gene golgin A2 Neighboring gene SWI5 homologous recombination repair protein Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene TruB pseudouridine synthase family member 2

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

Associated conditions

Description Tests
Epileptic encephalopathy, early infantile, 31
MedGen: C4225357 OMIM: 616346 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog

HIV-1 interactions

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
D2 dopamine receptor binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA binding HDA PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
microtubule binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nitric-oxide synthase binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor internalization IEA
Inferred from Electronic Annotation
more info
 
dynamin family protein polymerization involved in mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis TAS
Traceable Author Statement
more info
PubMed 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
membrane fusion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
organelle fission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
postsynaptic neurotransmitter receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor internalization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor-mediated endocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of synapse structure or activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to amyloid-beta IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle budding from presynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
toxin transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dendritic spine head IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane coat IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 
photoreceptor ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic endocytic zone membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynaptic endocytic zone membrane IEA
Inferred from Electronic Annotation
more info
 
synapse IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
varicosity IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
dynamin-1
NP_001005336.1
NP_001275666.1
NP_001275667.1
NP_001275668.1
NP_001361198.1
NP_004399.2

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029726.1 RefSeqGene

    Range
    4996..56861
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001005336.3NP_001005336.1  dynamin-1 isoform 2

    See identical proteins and their annotated locations for NP_001005336.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting isoform (2), also known as internal form 2 and the short C-terminal form, is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AI660320, BC050279, BC063850, DA221568
    Consensus CDS
    CCDS43882.1
    UniProtKB/Swiss-Prot
    Q05193
    Related
    ENSP00000345680.7, ENST00000341179.11
    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:216501
    Dynamin_M; Dynamin central region
    pfam02212
    Location:656745
    GED; Dynamin GTPase effector domain
  2. NM_001288737.2NP_001275666.1  dynamin-1 isoform 3

    See identical proteins and their annotated locations for NP_001275666.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal alternate in-frame exon, and contains an alternate in-frame exon, and includes an alternate exon in the 3' coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AI660320, AK296326, BC050279, BC063850, DA510154, L07810
    Consensus CDS
    CCDS75911.1
    UniProtKB/Swiss-Prot
    Q05193
    UniProtKB/TrEMBL
    B4DK06
    Related
    ENSP00000377219.3, ENST00000393594.7
    Conserved Domains (5) summary
    smart00053
    Location:6245
    DYNc; Dynamin, GTPase
    cd01256
    Location:520629
    PH_dynamin; Dynamin pleckstrin homology (PH) domain
    pfam01031
    Location:216501
    Dynamin_M; Dynamin central region
    pfam02212
    Location:657745
    GED; Dynamin GTPase effector domain
    cl27975
    Location:752844
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  3. NM_001288738.2NP_001275667.1  dynamin-1 isoform 3

    See identical proteins and their annotated locations for NP_001275667.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal alternate in-frame exon, and contains an alternate in-frame exon, and includes an alternate exon in the 3' coding region that results in a frameshift and an early stop codon, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. Variants 3 and 4 encode the same protein.
    Source sequence(s)
    AI660320, AK316235, AL590708, BC050279, BG396820
    Consensus CDS
    CCDS75911.1
    UniProtKB/Swiss-Prot
    Q05193
    UniProtKB/TrEMBL
    B7ZAC0
    Related
    ENSP00000419225.1, ENST00000475805.5
    Conserved Domains (5) summary
    smart00053
    Location:6245
    DYNc; Dynamin, GTPase
    cd01256
    Location:520629
    PH_dynamin; Dynamin pleckstrin homology (PH) domain
    pfam01031
    Location:216501
    Dynamin_M; Dynamin central region
    pfam02212
    Location:657745
    GED; Dynamin GTPase effector domain
    cl27975
    Location:752844
    EBV-NA3; Epstein-Barr virus nuclear antigen 3 (EBNA-3)
  4. NM_001288739.2NP_001275668.1  dynamin-1 isoform 4

    See identical proteins and their annotated locations for NP_001275668.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal alternate in-frame exon, and contains an alternate in-frame exon, compared to variant 1. The resulting protein (isoform 4) is the same length as isoform 1 but differs in an internal region compared to isoform 1.
    Source sequence(s)
    AI660320, AK225179, BC050279, BC063850, DA510154
    Consensus CDS
    CCDS75912.1
    UniProtKB/Swiss-Prot
    Q05193
    Related
    ENSP00000420045.1, ENST00000486160.3
    Conserved Domains (5) summary
    smart00053
    Location:6245
    DYNc; Dynamin, GTPase
    cd01256
    Location:520629
    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:747844
    Atrophin-1; Atrophin-1 family
  5. NM_001374269.1NP_001361198.1  dynamin-1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL590708
    Related
    ENSP00000486525.1, ENST00000628346.2
  6. NM_004408.4NP_004399.2  dynamin-1 isoform 1

    See identical proteins and their annotated locations for NP_004399.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1). Isoform 1 has been referred to as internal form 1 and the long C-terminal form.
    Source sequence(s)
    AI660320, BC050279, BC063850, DA221568
    Consensus CDS
    CCDS6895.1
    UniProtKB/Swiss-Prot
    Q05193
    Related
    ENSP00000362014.3, ENST00000372923.7
    Conserved Domains (5) summary
    smart00053
    Location:6245
    DYNc; Dynamin, GTPase
    cd01256
    Location:520629
    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:747844
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    128203379..128255244
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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