DNM1L
Dynamin-1-like protein
Also known as: DNM1L_HUMAN, DRP1, DVLP, DYMPLE, HDYNIV, VPS1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O00429
- Gene
- DNM1L
- Ensembl
- ENSG00000087470
- Chromosome
- 12
- Canonical length
- 736 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Transporters
- Subcellular location
- Vesicles,Cytosol
- Quaternary structure
- Homotetramer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
736 residues, UniProt reviewed canonical sequence.
>O00429|DNM1L
1 MEALIPVINK LQDVFNTVGA DIIQLPQIVV VGTQSSGKSS VLESLVGRDL LPRGTGIVTR
61 RPLILQLVHV SQEDKRKTTG EENGVEAEEW GKFLHTKNKL YTDFDEIRQE IENETERISG
121 NNKGVSPEPI HLKIFSPNVV NLTLVDLPGM TKVPVGDQPK DIELQIRELI LRFISNPNSI
181 ILAVTAANTD MATSEALKIS REVDPDGRRT LAVITKLDLM DAGTDAMDVL MGRVIPVKLG
241 IIGVVNRSQL DINNKKSVTD SIRDEYAFLQ KKYPSLANRN GTKYLARTLN RLLMHHIRDC
301 LPELKTRINV LAAQYQSLLN SYGEPVDDKS ATLLQLITKF ATEYCNTIEG TAKYIETSEL
361 CGGARICYIF HETFGRTLES VDPLGGLNTI DILTAIRNAT GPRPALFVPE VSFELLVKRQ
421 IKRLEEPSLR CVELVHEEMQ RIIQHCSNYS TQELLRFPKL HDAIVEVVTC LLRKRLPVTN
481 EMVHNLVAIE LAYINTKHPD FADACGLMNN NIEEQRRNRL ARELPSAVSR DKSSKVPSAL
541 APASQEPSPA ASAEADGKLI QDSRRETKNV ASGGGGVGDG VQEPTTGNWR GMLKTSKAEE
601 LLAEEKSKPI PIMPASPQKG HAVNLLDVPV PVARKLSARE QRDCEVIERL IKSYFLIVRK
661 NIQDSVPKAV MHFLVNHVKD TLQSELVGQL YKSSLLDDLL TESEDMAQRR KEAADMLKAL
721 QGASQIIAEI RETHLWLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DNM1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.35
- Highest tissue expression
- 52 nTPM
Expression across tissuesHPA
Tissue
- tongue: 52 nTPM
- cerebellum: 39 nTPM
- skeletal muscle: 38 nTPM
- cerebral cortex: 37 nTPM
- parathyroid gland: 36 nTPM
- heart muscle: 34 nTPM
Single-cell type
- urothelial cells: 310 nCPM
- megakaryocytes: 291 nCPM
- retinal ganglion cells: 240 nCPM
- myonuclei: 220 nCPM
- megakaryocyte progenitors: 215 nCPM
- rod photoreceptor cells: 213 nCPM
Immune cell
- non-classical monocyte: 20 nTPM
- myeloid DC: 19 nTPM
- intermediate monocyte: 17 nTPM
- classical monocyte: 15 nTPM
- plasmacytoid DC: 14 nTPM
- memory B-cell: 14 nTPM
Brain region
- cerebral cortex: 38 nTPM
- basal ganglia: 36 nTPM
- white matter: 34 nTPM
- hippocampal formation: 33 nTPM
- pons: 33 nTPM
- hypothalamus: 33 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DNM1L.
Disease | AllUniProt
Conditions DNM1L is implicated in, by any mechanism.
- Encephalopathy due to defective mitochondrial and peroxisomal fission 1 (EMPF1) MIM:614388
- Optic atrophy 5 (OPA5) MIM:610708
Disease | GeneticClinVar
65 pathogenic / likely-pathogenic of 863 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- Optic atrophy 5
- DNM1L-related disorder
- Mitochondrial disease
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.51
- gnomAD pLI
- 0
- gnomAD missense Z
- 3.83
- DepMap mean gene effect
- -0.62
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium ion transport
- endocytosis
- heart contraction
- intracellular distribution of mitochondria
- mitochondrial fission
- mitochondrial fragmentation involved in apoptotic process
- mitochondrial membrane fission
- mitochondrion organization
- mitocytosis
- peroxisome fission
- positive regulation of mitochondrial fission
- positive regulation of neutrophil chemotaxis
- positive regulation of protein secretion
- protein complex oligomerization
- protein localization to mitochondrion
- regulation of ATP metabolic process
- regulation of gene expression
- regulation of mitophagy
- regulation of peroxisome organization
- rhythmic process
Molecular functions
- GTP binding
- GTP-dependent protein binding
- GTPase activator activity
- GTPase activity
- identical protein binding
- lipid binding
- microtubule binding
- protein homodimerization activity
- small GTPase binding
- ubiquitin protein ligase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Dynamin stalk domain
- Dynamin, GTPase domain
- Dynamin GTPase effector
- Dynamin, GTPase region, conserved site
- GTPase effector domain
- Dynamin
- P-loop containing nucleoside triphosphate hydrolase
- Dynamin-type guanine nucleotide-binding (G) domain
- Dynamin, N-terminal
- Dynamin family
- Dynamin central region
- Dynamin GTPase effector domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DNM1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DNM1L as an antibody target. Whether an autoantibody or antibody against DNM1L could matter depends on whether native DNM1L is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DNM1L is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DNM1L as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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