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Aliases for DNM1L Gene

Aliases for DNM1L Gene

  • Dynamin 1-Like 2 3
  • 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 63
  • DYMPLE 3 4
  • HDYNIV 3 4
  • DRP1 3 4
  • DLP1 3 4
  • DVLP 3 4
  • Dynamin-Like Protein 4
  • EMPF 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 lethal encephalopathy due to mitochondrial and peroxisomal fission defect and encephalopahty, lethal, due to defective mitochondrial peroxisomal fission. Among its related pathways are Cytoskeletal Signaling and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include protein homodimerization activity and GTP binding. An important paralog of this gene is MX1.

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. Also required for mitochondrial fission during mitosis. 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 and isoform 4 inhibit peroxisomal division when overexpressed

Gene Wiki entry for DNM1L Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNM1L Gene

Genomics for DNM1L Gene

Regulatory Elements for DNM1L Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DNM1L Gene

Chromosome:
12
Start:
32,679,200 bp from pter
End:
32,745,650 bp from pter
Size:
66,451 bases
Orientation:
Plus strand

Genomic View for DNM1L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DNM1L Gene at MOPED

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 mitochondrial fission probably through preventing intramolecular interaction. Dephosphorylated on this site by PPP3CA which promotes mitochondrial fission. Phosphorylation on Ser-616 also 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 Lys 238
  • Glycosylation at Thr 585 and Thr 586
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DNM1L (DRP1)

Domains & Families for DNM1L Gene

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
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 GED domain.
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

No data available for Gene Families for DNM1L Gene

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. Also required for mitochondrial fission during mitosis. 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 and isoform 4 inhibit peroxisomal division when overexpressed

Enzyme Numbers (IUBMB) for DNM1L Gene

Gene Ontology (GO) - Molecular Function for DNM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IDA 22265414
GO:0005515 protein binding IPI 9731200
GO:0005525 GTP binding IEA --
GO:0008289 lipid binding IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16874301
genes like me logo Genes that share ontologies with DNM1L: view
genes like me logo Genes that share phenotypes with DNM1L: view

Animal Models for DNM1L Gene

MGI Knock Outs for DNM1L:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNM1L

In Situ Assay Products

Flow Cytometry Products

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
Jensen Localization Image for DNM1L Gene COMPARTMENTS Subcellular localization image for DNM1L gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 5
mitochondrion 5
peroxisome 5
endosome 2
vacuole 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DNM1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 12618434
GO:0005739 mitochondrion IDA 22265414
GO:0005741 mitochondrial outer membrane TAS --
GO:0005777 peroxisome IMP 23921378
GO:0005794 Golgi apparatus IDA 20688057
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
3 Reactome pathways for DNM1L Gene
1 KEGG pathway for DNM1L Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 23349293
GO:0001836 release of cytochrome c from mitochondria IMP 20850011
GO:0003374 dynamin polymerization involved in mitochondrial fission IDA 11514614
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process TAS --
genes like me logo Genes that share ontologies with DNM1L: view

Drugs & Compounds for DNM1L Gene

(6) Drugs for DNM1L Gene - From: NovoSeek, ApexBio, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Dynasore Pharma Dynamin and GTPase inhibitor 0
Mdivi 1 Pharma Selective DRP1/Dnm1 inhibitor, cell-permeable 0
ATP Pharma Activator 0

(5) 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
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
gtp
Partial agonist, Agonist
Rotenone
  • (-)-cis-Rotenone
  • (-)-Rotenone
  • 1,2,12,12a-Tetrahydro-8,9-dimethoxy-2-(1-methylethenyl)-[1]benzopyrano[3,4-b]furo[2,3-h][1]benzopyran-6(6aH)-one, 9CI
  • Dactinol
  • Derrin
83-79-4
genes like me logo Genes that share compounds with DNM1L: view

Transcripts for DNM1L Gene

Unigene Clusters for DNM1L Gene

Dynamin 1-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNM1L

Flow Cytometry Products

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 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, MOPED, and MaxQB for DNM1L Gene



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.
genes like me logo Genes that share expression patterns with DNM1L: view

Protein tissue co-expression partners for DNM1L Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia DNM1L 35
  • 95.37 (n)
  • 99.33 (a)
DNM1L 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNM1L 35
  • 94.26 (n)
  • 99.2 (a)
DNM1L 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnm1l 35
  • 91.19 (n)
  • 98.04 (a)
Dnm1l 16
Dnm1l 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNM1L 35
  • 99.11 (n)
  • 99.01 (a)
DNM1L 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnm1l 35
  • 92.07 (n)
  • 98.87 (a)
oppossum
(Monodelphis domestica)
Mammalia DNM1L 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNM1L 36
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNM1L 35
  • 84.2 (n)
  • 94.83 (a)
DNM1L 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNM1L 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnm1l 35
  • 74.52 (n)
  • 90.87 (a)
Str.3996 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
dnm1l 35
  • 75.11 (n)
  • 91.32 (a)
dnm1l 36
  • 91 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1334 35
fruit fly
(Drosophila melanogaster)
Insecta CG3210 37
  • 61 (a)
Drp1 35
  • 60.64 (n)
  • 67.73 (a)
Drp1 36
  • 66 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008896 35
  • 59.66 (n)
  • 70.07 (a)
worm
(Caenorhabditis elegans)
Secernentea drp-1 37
  • 61 (a)
drp-1 35
  • 60.29 (n)
  • 63.86 (a)
drp-1 36
  • 62 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL174C 35
  • 52.11 (n)
  • 47.2 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F12892g 35
  • 51.94 (n)
  • 47.43 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DNM1 35
  • 52.52 (n)
  • 48.27 (a)
DNM1 36
  • 45 (a)
OneToOne
DNM1 38
barley
(Hordeum vulgare)
Liliopsida Hv.4142 35
rice
(Oryza sativa)
Liliopsida Os04g0381000 35
  • 51.96 (n)
  • 44.7 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.6642 35
corn
(Zea mays)
Liliopsida Zm.16798 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13211 35
bread mold
(Neurospora crassa)
Ascomycetes NCU09808 35
  • 56.24 (n)
  • 53.97 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes dnm1 35
  • 51.55 (n)
  • 44.93 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 67 (a)
OneToOne
Species with no ortholog for DNM1L:
  • 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

Paralogs for DNM1L Gene

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

Variants for DNM1L Gene

Sequence variations from dbSNP and Humsavar for DNM1L Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs977542 -- 32,679,963(+) ATCGC(G/T)CTGTT intron-variant, utr-variant-5-prime
rs977543 -- 32,680,129(+) GCGTA(A/G)GCTGT intron-variant
rs1064609 -- 32,701,522(+) CATGT(G/T)TCACA synonymous-codon, reference, missense, utr-variant-5-prime
rs1064610 - 32,701,523(+) ATGTT(A/T)CACAA missense, reference, utr-variant-5-prime
rs1239834 -- 32,684,411(+) tttca(C/T)attag intron-variant

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

Variant ID Type Subtype PubMed ID
nsv507639 CNV Insertion 20534489

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)

Relevant External Links for DNM1L Gene

HapMap Linkage Disequilibrium report
DNM1L
Human Gene Mutation Database (HGMD)
DNM1L

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

Disorders for DNM1L Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNM1L Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
lethal encephalopathy due to mitochondrial and peroxisomal fission defect
encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
  • lethal encephalopathy due to defective mitochondrial peroxisomal fission
alzheimer disease mitochondrial
  • ad-mt
spinocerebellar ataxia 12
  • spinocerebellar ataxia 21
alzheimer disease
  • alzheimer disease, late-onset
- elite association
Search DNM1L in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DNM1L_HUMAN
  • Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=May be associated with Alzheimer disease through beta-amyloid-induced increased S-nitrosylation of DNM1L, which triggers, directly or indirectly, excessive mitochondrial fission, synaptic loss and neuronal damage.

Relevant External Links for DNM1L

Genetic Association Database (GAD)
DNM1L
Human Genome Epidemiology (HuGE) Navigator
DNM1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNM1L
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 Y.-R. … Chow C.-C. (Biochem. Biophys. Res. Commun. 1998) 2 23 67
  2. Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p. (PMID: 9348079) Shin H.-W. … Nakayama K. (J. Biochem. 1997) 2 23 67
  3. Association of fission proteins with mitochondrial raft-like domains. (PMID: 20075943) Ciarlo L. … Sorice M. (Cell Death Differ. 2010) 23 67
  4. Loss of MARCH5 mitochondrial E3 ubiquitin ligase induces cellular senescence through dynamin-related protein 1 and mitofusin 1. (PMID: 20103533) Park Y.Y. … Cho H. (J. Cell Sci. 2010) 23 67
  5. Redox reactions induced by nitrosative stress mediate protein misfolding and mitochondrial dysfunction in neurodegenerative diseases. (PMID: 20333559) Gu Z. … Lipton S.A. (Mol. Neurobiol. 2010) 23 67

Products for DNM1L Gene

  • Addgene plasmids for DNM1L

Sources for DNM1L Gene

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