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Aliases for DNM1L Gene

Aliases for DNM1L Gene

  • Dynamin 1 Like 2 3 5
  • 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-Like Protein 4 3 4
  • EC 3.6.5.5 4 56
  • DYMPLE 3 4
  • HDYNIV 3 4
  • DRP1 3 4
  • DLP1 3 4
  • DVLP 3 4
  • Dynamin-1-Like Protein 3
  • Dynamin-Like Protein 4
  • EMPF1 3
  • EMPF 3
  • OPA5 3

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 Necroptosis and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and GTP binding.

UniProtKB/Swiss-Prot 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. 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). 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. Required for programmed necrosis execution.

  • 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 , fRNAdb sequence ontologies and piRNA Summary for DNM1L Gene

Genomics for DNM1L Gene

GeneHancer (GH) Regulatory Elements for DNM1L Gene

Promoters and enhancers for DNM1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I032677 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 559.4 +0.4 436 3.7 HDGF PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 DNM1L BICD1 YARS2 H3F3C ENSG00000257643
GH12I032891 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 +216.3 216269 8.7 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF213 FOS KLF13 SP3 PKP2 BICD1 DNM1L LOC100420981 RPL35AP27
GH12I031726 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.8 -950.7 -950723 3.9 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 AMN1 ENSG00000276900 GC12P031730 CAPRIN2 DDX11 DDX11-AS1 BICD1 SINHCAF LOC100420981 FLJ13224
GH12I031958 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 12.8 -718.3 -718318 5.3 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B CBX5 ZNF213 KIAA1551 LOC105369725 DDX11-AS1 BICD1 DNM1L LOC102724618
GH12I032016 Enhancer 0.8 ENCODE 36.1 -662.0 -661997 2.2 ZNF529 ZFP64 MZF1 ZEB1 ZNF213 ZNF138 ZNF366 ZNF202 ZNF654 ZNF680 DDX11 LOC100420981 DDX11-AS1 SINHCAF DNM1L BICD1 YARS2 FLJ13224 KIAA1551 AMN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DNM1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNM1L gene promoter:

Genomic Locations for DNM1L Gene

Genomic Locations for DNM1L Gene
chr12:32,679,200-32,745,650
(GRCh38/hg38)
Size:
66,451 bases
Orientation:
Plus strand
chr12:32,832,134-32,898,584
(GRCh37/hg19)

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 StructureGene Density

RefSeq DNA sequence for DNM1L Gene

Proteins for DNM1L Gene

  • 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
    • 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. Can also oligomerize to form multimeric ring-like structures. Interacts with GSK3B and MARCH5. 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 FIS1. Interacts with MIEF2 and MIEF1; this 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=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DNM1L Gene

    Alternative splice isoforms for DNM1L Gene

neXtProt entry for DNM1L Gene

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

  • 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).
  • 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.
  • S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage.
  • 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.
  • Ubiquitination by MARCH5 affects mitochondrial morphology.
  • Ubiquitination at posLast=238238
  • Glycosylation at posLast=585585 and posLast=586586

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

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

Molecular function for DNM1L Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP + H(2)O = GDP + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
GTPase activity is increased by binding to phospholipid membranes.
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. 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). 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. Required for programmed necrosis execution.
UniProtKB/Swiss-Prot Function:
Isoform 1: Inhibits peroxisomal division when overexpressed.
UniProtKB/Swiss-Prot Function:
Isoform 4: Inhibits peroxisomal division when overexpressed.

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 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • 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. Recruited to the mitochondrial outer membrane by interaction with MIEF1. Colocalized with MARCH5 at mitochondrial membrane. Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. 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. Binds to phospholipid membranes.

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
nucleus 2
plasma membrane 1
lysosome 1
endosome 1

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 IDA,IEA 12618434
GO:0005739 mitochondrion IDA,IEA 11514614
GO:0005741 mitochondrial outer membrane TAS --
GO:0005777 peroxisome 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 Cell Signaling Technology pathway for DNM1L Gene
1 BioSystems 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 IMP,IDA 23349293
GO:0001836 release of cytochrome c from mitochondria IMP 20850011
GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IDA 11514614
GO:0006897 endocytosis IEA --
GO:0007005 mitochondrion organization IMP 11514614
genes like me logo Genes that share ontologies with DNM1L: view

Drugs & Compounds for DNM1L Gene

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

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

(2) Additional Compounds for DNM1L Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2

(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

Transcripts for DNM1L Gene

Unigene Clusters for DNM1L Gene

Dynamin 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • 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
ECgene alternative splicing isoforms for
DNM1L

Expression for DNM1L Gene

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



Protein tissue co-expression partners for DNM1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNM1L Gene:

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)
  • Liver(4.5)
  • Lung(4.5)
  • Blood(4.4)
  • Heart(2.7)
  • Muscle(2.7)
  • Kidney(2.5)
  • Skin(2)

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

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 33 34
  • 99.11 (n)
oppossum
(Monodelphis domestica)
Mammalia DNM1L 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNM1L 33 34
  • 95.37 (n)
dog
(Canis familiaris)
Mammalia DNM1L 33 34
  • 94.26 (n)
rat
(Rattus norvegicus)
Mammalia Dnm1l 33
  • 92.07 (n)
mouse
(Mus musculus)
Mammalia Dnm1l 33 16 34
  • 91.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNM1L 34
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNM1L 33 34
  • 84.2 (n)
lizard
(Anolis carolinensis)
Reptilia DNM1L 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm1l 33
  • 74.52 (n)
Str.3996 33
zebrafish
(Danio rerio)
Actinopterygii dnm1l 33 34
  • 75.11 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1334 33
fruit fly
(Drosophila melanogaster)
Insecta CG3210 35
  • 61 (a)
Drp1 33 34
  • 60.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008896 33
  • 59.66 (n)
worm
(Caenorhabditis elegans)
Secernentea drp-1 35 33 34
  • 60.29 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNM1 33 34 36
  • 52.52 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL174C 33
  • 52.11 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12892g 33
  • 51.94 (n)
rice
(Oryza sativa)
Liliopsida Os04g0381000 33
  • 51.96 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4142 33
wheat
(Triticum aestivum)
Liliopsida Ta.6642 33
corn
(Zea mays)
Liliopsida Zm.16798 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 67 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU09808 33
  • 56.24 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dnm1 33
  • 51.55 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13211 33
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)

Paralogs for DNM1L Gene

No data available for Paralogs for DNM1L Gene

Variants for DNM1L Gene

Sequence variations from dbSNP and Humsavar for DNM1L Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1020670 likely-benign, benign, Mitochondrial myopathy and sideroblastic anemia, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy 32,743,681(+) C/G 3_prime_UTR_variant
rs1057518694 likely-pathogenic, Encephalopathy due to defective mitochondrial and peroxisomal fission 1 32,731,069(+) G/A coding_sequence_variant, missense_variant
rs1059422 likely-benign, benign, Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis, Lethal Encephalopathy, Mitochondrial myopathy and sideroblastic anemia 32,743,431(+) G/C 3_prime_UTR_variant
rs10844308 benign, not specified, Lethal Encephalopathy 32,701,432(+) A/C 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs10844318 benign, not specified, Lethal Encephalopathy 32,722,472(+) A/G coding_sequence_variant, synonymous_variant

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

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

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

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

Disorders for DNM1L Gene

MalaCards: The human disease database

(11) MalaCards diseases for DNM1L Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- 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
  • 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}.

Additional Disease Information for DNM1L

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

No data available for Genatlas for DNM1L Gene

Publications for DNM1L Gene

  1. 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 22 58
  2. 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 22 58
  3. SUMOylation of the mitochondrial fission protein Drp1 occurs at multiple nonconsensus sites within the B domain and is linked to its activity cycle. (PMID: 19638400) Figueroa-Romero C … Feldman EL (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2009) 3 4 22 58
  4. MAPL is a new mitochondrial SUMO E3 ligase that regulates mitochondrial fission. (PMID: 19407830) Braschi E … McBride HM (EMBO reports 2009) 3 4 22 58
  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 22 58

Products for DNM1L Gene

  • Addgene plasmids for DNM1L

Sources for DNM1L Gene

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