DNM1L Gene (Protein Coding)

Dynamin 1 Like

GC12P032679
GIFtS:
48
This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dom... See more...

Aliases for DNM1L Gene

Aliases for DNM1L Gene

  • Dynamin 1 Like 2 3 5
  • DRP1 2 3 4
  • DVLP 2 3 4
  • Dynamin Family Member Proline-Rich Carboxyl-Terminal Domain Less 3 4
  • Dynamin-Related Protein 1 3 4
  • Dnm1p/Vps1p-Like Protein 3 4
  • Dynamin-Like Protein IV 3 4
  • Dynamin-1-Like Protein 3 4
  • Dynamin-Like Protein 4 3 4
  • EC 3.6.5.5 4 51
  • DYMPLE 2 3
  • HDYNIV 2 3
  • DLP1 3 4
  • Dynamin-Like Protein 4
  • Dymple 4
  • HdynIV 4
  • EMPF1 3
  • DNM1L 5
  • EMPF 3
  • OPA5 3
  • VPS1 2

External Ids for DNM1L Gene

Previous GeneCards Identifiers for DNM1L Gene

  • GC12P033322
  • GC12P032909
  • GC12P032732
  • GC12P032723
  • GC12P032584
  • GC12P032832

Summaries for DNM1L Gene

Entrez Gene Summary for DNM1L Gene

  • This gene encodes a member of the dynamin superfamily of GTPases. The encoded protein mediates mitochondrial and peroxisomal division, and is involved in developmentally regulated apoptosis and programmed necrosis. Dysfunction of this gene is implicated in several neurological disorders, including Alzheimer's disease. Mutations in this gene are associated with the autosomal dominant disorder, encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

GeneCards Summary for DNM1L Gene

DNM1L (Dynamin 1 Like) is a Protein Coding gene. Diseases associated with DNM1L include Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 and Optic Atrophy 5. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Synaptic vesicle cycle. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is DNM2.

UniProtKB/Swiss-Prot Summary for DNM1L Gene

  • Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Plays an important role in mitochondrial fission during mitosis (PubMed:26992161, PubMed:27301544, PubMed:27328748). Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:23792689). Required for programmed necrosis execution. Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834).
  • [Isoform 1]: Inhibits peroxisomal division when overexpressed.
  • [Isoform 4]: Inhibits peroxisomal division when overexpressed.

Gene Wiki entry for DNM1L Gene

Additional gene information for DNM1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNM1L Gene

Genomics for DNM1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DNM1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNM1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DNM1L

Top Transcription factor binding sites by QIAGEN in the DNM1L gene promoter:
  • NF-1
  • NF-1/L
  • Roaz
  • RREB-1
  • S8
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • XBP-1

Genomic Locations for DNM1L Gene

Latest Assembly
chr12:32,679,200-32,745,650
(GRCh38/hg38)
Size:
66,451 bases
Orientation:
Plus strand

Previous Assembly
chr12:32,832,235-32,898,584
(GRCh37/hg19 by Entrez Gene)
Size:
66,350 bases
Orientation:
Plus strand

chr12:32,832,134-32,898,486
(GRCh37/hg19 by Ensembl)
Size:
66,353 bases
Orientation:
Plus strand

Genomic View for DNM1L Gene

Genes around DNM1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNM1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNM1L Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DNM1L Gene

Proteins for DNM1L Gene

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  • Protein details for DNM1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00429-DNM1L_HUMAN
    Recommended name:
    Dynamin-1-like protein
    Protein Accession:
    O00429
    Secondary Accessions:
    • A8K4X9
    • B4DGC9
    • B4DSU8
    • G8JLD5
    • J3KPI2
    • O14541
    • O60709
    • Q59GN9
    • Q7L6B3
    • Q8TBT7
    • Q9BWM1
    • Q9Y5J2

    Protein attributes for DNM1L Gene

    Size:
    736 amino acids
    Molecular mass:
    81877 Da
    Quaternary structure:
    • Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED domain of another DNM1L molecule. Oligomerizes in a GTP-dependent manner to form membrane-associated tubules with a spiral pattern. Interacts with GSK3B and MARCHF5. Interacts (via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L, mainly in its B domain. Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria. Interacts with BCL2L1 isoform BCL-X(L) and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF. Interacts with MFF; the interaction is inhinited by C11orf65/MFI. Interacts with FIS1. Interacts with MIEF2 and MIEF1; GTP-dependent, regulates GTP hydrolysis and DNM1L oligomerization. Interacts with PGAM5; this interaction leads to dephosphorylation at Ser-656 and activation of GTPase activity and eventually to mitochondria fragmentation.
    SequenceCaution:
    • Sequence=BAD92307.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNM1L Gene

    Alternative splice isoforms for DNM1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNM1L Gene

Protein Expression for DNM1L Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for DNM1L Gene

O00429:
  • ELCGGARI
  • KRLEEPSLRCVELVHEEMQRIIQHCSNYSTQELLRFPKL
  • LTAIRNATGPRPALFVPEVSFELLVKRQ
  • NLTLVDLPG
  • GVVNRSQ
  • REVDPDGRRTLAV
  • PASPQKGHAVNLLDVPVPVARKLSAREQRDCEVIERLIK
  • EAADMLKALQ
  • VPKAVMH
  • TKLDLMD
  • VTRRPLILQL
  • EEWGKFLHTKNK
  • AQYQSLL
  • TKVPVGDQP
  • LPRGTGIVTRRPL
  • LQSELVGQLYK
  • ISNPNSIILAVTAANTDMATSEALK
  • LLDDLLTESEDMAQRR
  • SRDKSSKVPSALAPASQEP
  • FLQKKYPSLANRNGTKYLARTLNRLLMHHIRDCLPELKT
  • SATLLQLITKFATEYCNTIEGTAKYIET
  • YTDFDEIRQEIENETER
  • LLRKRLPVTNEMVHNLVAIELAYINTKHPDFADACGLMN

Post-translational modifications for DNM1L Gene

  • Phosphorylation/dephosphorylation events on two sites near the GED domain regulate mitochondrial fission. Phosphorylation on Ser-637 inhibits the GTPase activity, leading to a defect in mitochondrial fission promoting mitochondrial elongation. Dephosphorylated on this site by PPP3CA which promotes mitochondrial fission. Phosphorylation on Ser-616 activates the GTPase activity and promotes mitochondrial fission. Phosphorylated in a circadian manner at Ser-637 (PubMed:29478834).
  • Sumoylated on various lysine residues within the B domain, probably by MUL1. Sumoylation positively regulates mitochondrial fission. Desumoylated by SENP5 during G2/M transition of mitosis. Appears to be linked to its catalytic activity.
  • S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage.
  • Ubiquitination by MARCHF5 affects mitochondrial morphology.
  • O-GlcNAcylation augments the level of the GTP-bound active form of DRP1 and induces translocation from the cytoplasm to mitochondria in cardiomyocytes. It also decreases phosphorylation at Ser-637 (By similarity).
  • Glycosylation at Thr585 and Thr586
  • Ubiquitination at Lys238
  • Modification sites at PhosphoSitePlus

Other Protein References for DNM1L Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for DNM1L Gene

Gene Families for DNM1L Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for DNM1L Gene

InterPro:
Blocks:
  • Dynamin
ProtoNet:

Suggested Antigen Peptide Sequences for DNM1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59840, highly similar to Dynamin-1-like protein (EC 3.6.5.5) (B4DDQ3_HUMAN)
  • cDNA FLJ59504, highly similar to Dynamin-1-like protein (EC 3.6.5.5) (B4DGC9_HUMAN)
  • cDNA FLJ59948, highly similar to Dynamin-1-like protein (EC 3.6.5.5) (B4DPZ9_HUMAN)
  • Dynamin 1-like, isoform CRA_c (D3DUW5_HUMAN)
  • Dynamin 1-like, isoform CRA_f (D3DUW6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00429

UniProtKB/Swiss-Prot:

DNM1L_HUMAN :
  • The GED domain folds back to interact, in cis, with the GTP-binding domain and middle domain, and interacts, in trans, with the GED domains of other DNM1L molecules, and is thus critical for activating GTPase activity and for DNM1L dimerization.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
Domain:
  • The GED domain folds back to interact, in cis, with the GTP-binding domain and middle domain, and interacts, in trans, with the GED domains of other DNM1L molecules, and is thus critical for activating GTPase activity and for DNM1L dimerization.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family.
genes like me logo Genes that share domains with DNM1L: view

Function for DNM1L Gene

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Molecular function for DNM1L Gene

UniProtKB/Swiss-Prot Function:
Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization into membrane-associated tubular structures that wrap around the scission site to constrict and sever the mitochondrial membrane through a GTP hydrolysis-dependent mechanism. The specific recruitment at scission sites is mediated by membrane receptors like MFF, MIEF1 and MIEF2 for mitochondrial membranes (PubMed:29899447). While the recruitment by the membrane receptors is GTP-dependent, the following hydrolysis of GTP induces the dissociation from the receptors and allows DNM1L filaments to curl into closed rings that are probably sufficient to sever a double membrane (PubMed:29899447). Through its function in mitochondrial division, ensures the survival of at least some types of postmitotic neurons, including Purkinje cells, by suppressing oxidative damage. Required for normal brain development, including that of cerebellum. Facilitates developmentally regulated apoptosis during neural tube formation. Required for a normal rate of cytochrome c release and caspase activation during apoptosis; this requirement may depend upon the cell type and the physiological apoptotic cues. Plays an important role in mitochondrial fission during mitosis (PubMed:26992161, PubMed:27301544, PubMed:27328748). Required for formation of endocytic vesicles. Proposed to regulate synaptic vesicle membrane dynamics through association with BCL2L1 isoform Bcl-X(L) which stimulates its GTPase activity in synaptic vesicles; the function may require its recruitment by MFF to clathrin-containing vesicles (PubMed:23792689). Required for programmed necrosis execution. Rhythmic control of its activity following phosphorylation at Ser-637 is essential for the circadian control of mitochondrial ATP production (PubMed:29478834).
UniProtKB/Swiss-Prot Function:
[Isoform 1]: Inhibits peroxisomal division when overexpressed.
UniProtKB/Swiss-Prot Function:
[Isoform 4]: Inhibits peroxisomal division when overexpressed.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.5; Evidence={ECO:0000269|PubMed:23977156, ECO:0000269|PubMed:9422767};.
UniProtKB/Swiss-Prot EnzymeRegulation:
GTPase activity is increased by binding to phospholipid membranes.

Enzyme Numbers (IUBMB) for DNM1L Gene

Phenotypes From GWAS Catalog for DNM1L Gene

Gene Ontology (GO) - Molecular Function for DNM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 22265414
GO:0005096 GTPase activator activity IC 25767741
GO:0005515 protein binding IPI 9731200
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with DNM1L: view
genes like me logo Genes that share phenotypes with DNM1L: view

Human Phenotype Ontology for DNM1L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DNM1L Gene

MGI Knock Outs for DNM1L:
  • Dnm1l Dnm1l<tm1.2Hise>
  • Dnm1l Dnm1l<tm1.2Miha>
  • Dnm1l Dnm1l<tm1b(KOMP)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNM1L

Clone products for research

  • Addgene plasmids for DNM1L

No data available for Transcription Factor Targets and HOMER Transcription for DNM1L Gene

Localization for DNM1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNM1L Gene

Cytoplasm, cytosol. Golgi apparatus. Endomembrane system. Peripheral membrane protein. Mitochondrion outer membrane. Peripheral membrane protein. Peroxisome. Membrane, clathrin-coated pit. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Note=Mainly cytosolic. Translocated to the mitochondrial membrane through O-GlcNAcylation and interaction with FIS1. Colocalized with MARCHF5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. Recruited to the mitochondrial outer membrane by interaction with MIEF1. Mitochondrial recruitment is inhbited by C11orf65/MFI (By similarity). Associated with peroxisomal membranes, partly recruited there by PEX11B. May also be associated with endoplasmic reticulum tubules and cytoplasmic vesicles and found to be perinuclear. In some cell types, localizes to the Golgi complex (By similarity). Binds to phospholipid membranes (By similarity). {ECO:0000250, ECO:0000250 UniProtKB:Q8K1M6}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNM1L gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
peroxisome 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
plasma membrane 4
nucleus 3
extracellular 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DNM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm IBA,IMP 28969390
GO:0005739 mitochondrion IMP 28969390
GO:0005741 mitochondrial outer membrane IEA,TAS --
GO:0005777 peroxisome IEA,IMP 23921378
genes like me logo Genes that share ontologies with DNM1L: view

Pathways & Interactions for DNM1L Gene

genes like me logo Genes that share pathways with DNM1L: view

Pathways by source for DNM1L Gene

1 BioSystems pathway for DNM1L Gene
3 Reactome pathways for DNM1L Gene
1 Cell Signaling Technology pathway for DNM1L Gene

SIGNOR curated interactions for DNM1L Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DNM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000266 mitochondrial fission IEA,IMP 23349293
GO:0001836 release of cytochrome c from mitochondria IMP 20850011
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IBA,IDA 11514614
GO:0006816 calcium ion transport IEA --
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with DNM1L: view

Drugs & Compounds for DNM1L Gene

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(9) Drugs for DNM1L Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Dynasore Experimental Pharma Dynamin and GTPase inhibitor 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Phosphate Experimental Pharma 0

(1) Additional Compounds for DNM1L Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for DNM1L Gene

Compound Action Cas Number
Dynasore Dynamin and GTPase inhibitor 304448-55-3
Mdivi 1 Selective DRP1/Dnm1 inhibitor, cell-permeable 338967-87-6
genes like me logo Genes that share compounds with DNM1L: view

Drug products for research

Transcripts for DNM1L Gene

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mRNA/cDNA for DNM1L Gene

8 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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  • Addgene plasmids for DNM1L

Alternative Splicing Database (ASD) splice patterns (SP) for DNM1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: - - - - - - -
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19a · 19b · 19c ^ 20 ^ 21 ^ 22a · 22b · 22c · 22d
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for DNM1L Gene

GeneLoc Exon Structure for
DNM1L

Expression for DNM1L Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNM1L Gene

mRNA expression in normal human tissues for DNM1L Gene
mRNA expression by GTEx for DNM1L GenemRNA expression by BioGPS for DNM1L Gene

Protein differential expression in normal tissues from HIPED for DNM1L Gene

This gene is overexpressed in Brain (15.6), Peripheral blood mononuclear cells (14.7), and Frontal cortex (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DNM1L Gene



Protein tissue co-expression partners for DNM1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DNM1L

SOURCE GeneReport for Unigene cluster for DNM1L Gene:

Hs.556296

mRNA Expression by UniProt/SwissProt for DNM1L Gene:

O00429-DNM1L_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels found in skeletal muscles, heart, kidney and brain. Isoform 1 is brain-specific. Isoform 2 and isoform 3 are predominantly expressed in testis and skeletal muscles respectively. Isoform 4 is weakly expressed in brain, heart and kidney. Isoform 5 is dominantly expressed in liver, heart and kidney. Isoform 6 is expressed in neurons.

Evidence on tissue expression from TISSUES for DNM1L Gene

  • Nervous system(5)
  • Lung(4.6)
  • Liver(4.6)
  • Blood(4.5)
  • Heart(3.2)
  • Muscle(3.1)
  • Kidney(3)
  • Skin(2.9)
  • Eye(2.6)
  • Intestine(2.5)
  • Pancreas(2.5)
  • Adrenal gland(2.4)
  • Stomach(2.4)
  • Bone marrow(2.4)
  • Spleen(2.2)
  • Lymph node(2.2)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNM1L Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DNM1L: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNM1L Gene

Orthologs for DNM1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNM1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DNM1L 30 31
  • 99.11 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia DNM1L 31
  • 97 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DNM1L 30 31
  • 95.37 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DNM1L 30 31
  • 94.26 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dnm1l 30
  • 92.07 (n)
Mouse
(Mus musculus)
 Mammalia Dnm1l 30 17 31
  • 91.19 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia DNM1L 31
  • 85 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves DNM1L 30 31
  • 84.2 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia DNM1L 31
  • 93 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia dnm1l 30
  • 74.52 (n)
Str.3996 30
Zebrafish
(Danio rerio)
 Actinopterygii dnm1l 30 31
  • 75.11 (n)
 OneToOne
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.1334 30
Fruit Fly
(Drosophila melanogaster)
 Insecta CG3210 32
  • 61 (a)
Drp1 30 31
  • 60.64 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP008896 30
  • 59.66 (n)
Worm
(Caenorhabditis elegans)
 Secernentea drp-1 30 31 32
  • 60.29 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes DNM1 30 31 33
  • 52.52 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AAL174C 30
  • 52.11 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F12892g 30
  • 51.94 (n)
Rice
(Oryza sativa)
 Liliopsida Os04g0381000 30
  • 51.96 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.4142 30
Wheat
(Triticum aestivum)
 Liliopsida Ta.6642 30
Corn
(Zea mays)
 Liliopsida Zm.16798 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 67 (a)
 OneToOne
Bread mold
(Neurospora crassa)
 Ascomycetes NCU09808 30
  • 56.24 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes dnm1 30
  • 51.55 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.13211 30
Species where no ortholog for DNM1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for DNM1L Gene

ENSEMBL:
Gene Tree for DNM1L (if available)
TreeFam:
Gene Tree for DNM1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DNM1L: view image

Paralogs for DNM1L Gene

Paralogs for DNM1L Gene

(7) SIMAP similar genes for DNM1L Gene using alignment to 17 proteins:

  • DNM1L_HUMAN
  • B4DDQ3_HUMAN
  • B4DGC9_HUMAN
  • B4DPZ9_HUMAN
  • D3DUW5_HUMAN
  • D3DUW6_HUMAN
  • D3DUW7_HUMAN
  • F8VR28_HUMAN
  • F8VUJ9_HUMAN
  • F8VYL3_HUMAN
  • F8VZ52_HUMAN
  • F8W1W3_HUMAN
  • G8JLD5_HUMAN
  • H0YHY4_HUMAN
  • H0YI79_HUMAN
  • J3KPI2_HUMAN
  • Q32Q67_HUMAN
genes like me logo Genes that share paralogs with DNM1L: view

Variants for DNM1L Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DNM1L Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
860463 Uncertain Significance: not provided 32,737,917(+) C/T
NM_012062.5(DNM1L):c.1649C>T (p.Ala550Val) 		MISSENSE_VARIANT,INTRON
872628 Uncertain Significance: not provided 32,720,679(+) TAAC/T
NM_012062.5(DNM1L):c.759_761CAA[1] (p.Asn254del) 		INFRAME_DELETION
931487 Conflicting Interpretations: Encephalopathy due to defective mitochondrial and peroxisomal fission 1; Inborn genetic diseases 32,708,199(+) C/G
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg) 		MISSENSE_VARIANT,INTRON
974819 Pathogenic: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 32,701,427(+) A/G
NM_012062.5(DNM1L):c.115A>G (p.Ser39Gly) 		MISSENSE_VARIANT,FIVE_PRIME_UTR
976414 Likely Pathogenic: Encephalopathy due to defective mitochondrial and peroxisomal fission 1 32,731,021(+) G/A
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DNM1L Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DNM1L Gene

Variant ID Type Subtype PubMed ID
dgv1429n100 CNV gain 25217958
esv3581449 CNV gain 25503493
nsv507639 OTHER sequence alteration 20534489
nsv976594 CNV duplication 23825009

Variation tolerance for DNM1L Gene

Residual Variation Intolerance Score: 8.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.86; 17.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DNM1L Gene

Human Gene Mutation Database (HGMD)
DNM1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNM1L

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNM1L Gene

Disorders for DNM1L Gene

MalaCards: The human disease database

(36) MalaCards diseases for DNM1L Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search DNM1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNM1L_HUMAN
  • Note=May be associated with Alzheimer disease through amyloid-beta-induced increased S-nitrosylation of DNM1L, which triggers, directly or indirectly, excessive mitochondrial fission, synaptic loss and neuronal damage. {ECO:0000269 PubMed:19342591}.
  • Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) [MIM:614388]: A rare autosomal dominant systemic disorder resulting in lack of neurologic development and death in infancy. After birth, infants present in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chain fatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral pattern in both frontal lobes associated with dysmyelination. {ECO:0000269 PubMed:17460227, ECO:0000269 PubMed:26604000, ECO:0000269 PubMed:26992161, ECO:0000269 PubMed:27145208, ECO:0000269 PubMed:27301544, ECO:0000269 PubMed:27328748, ECO:0000269 PubMed:29899447}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Optic atrophy 5 (OPA5) [MIM:610708]: A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia. {ECO:0000269 PubMed:28969390}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DNM1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DNM1L: view

No data available for Genatlas for DNM1L Gene

Publications for DNM1L Gene

  1. A lethal defect of mitochondrial and peroxisomal fission. (PMID: 17460227) Waterham HR … Leonard JV (The New England journal of medicine 2007) 3 4 23 74
  2. Human dynamin-like protein interacts with the glycogen synthase kinase 3beta. (PMID: 9731200) Hong YR … Chow CC (Biochemical and biophysical research communications 1998) 2 3 4 23
  3. Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p. (PMID: 9348079) Shin HW … Nakayama K (Journal of biochemistry 1997) 2 3 4 23
  4. Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. (PMID: 28969390) Gerber S … Lenaers G (Brain : a journal of neurology 2017) 3 4 74
  5. S-nitrosylation of Drp1 mediates beta-amyloid-related mitochondrial fission and neuronal injury. (PMID: 19342591) Cho DH … Lipton SA (Science (New York, N.Y.) 2009) 3 4 23

ExternalLinks

View latest publications for DNM1L gene in Mastermind

Products for DNM1L Gene

  • Addgene plasmids for DNM1L

Sources for DNM1L Gene