Gene Gene information from NCBI Gene database.
Entrez ID 10059
Gene name Dynamin 1 like
Gene symbol DNM1L
Synonyms (NCBI Gene)
DLP1DRP1DVLPDYMPLEEMPFEMPF1HDYNIVOPA5
Chromosome 12
Chromosome location 12p11.21
Summary 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 i
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs745921568 A>T Likely-pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs879255686 ->A Pathogenic Coding sequence variant, intron variant, frameshift variant
rs879255687 GA>- Pathogenic 5 prime UTR variant, coding sequence variant, intron variant, frameshift variant
rs879255688 A>G Pathogenic 5 prime UTR variant, coding sequence variant, missense variant
rs1057523007 G>C Likely-pathogenic 5 prime UTR variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
379
miRTarBase ID miRNA Experiments Reference
MIRT050255 hsa-miR-25-3p CLASH 23622248
MIRT039911 hsa-miR-615-3p CLASH 23622248
MIRT134280 hsa-miR-106b-5p HITS-CLIP 22473208
MIRT134275 hsa-miR-20a-5p HITS-CLIP 22473208
MIRT134280 hsa-miR-106b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
98
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000266 Process Mitochondrial fission IBA
GO:0000266 Process Mitochondrial fission IDA 20850011, 23530241
GO:0000266 Process Mitochondrial fission IEA
GO:0000266 Process Mitochondrial fission IMP 23349293
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603850 2973 ENSG00000087470
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O00429
Protein name Dynamin-1-like protein (EC 3.6.5.5) (Dnm1p/Vps1p-like protein) (DVLP) (Dynamin family member proline-rich carboxyl-terminal domain less) (Dymple) (Dynamin-like protein) (Dynamin-like protein 4) (Dynamin-like protein IV) (HdynIV) (Dynamin-related protein 1
Protein function Functions in mitochondrial and peroxisomal division (PubMed:11514614, PubMed:12499366, PubMed:17301055, PubMed:17460227, PubMed:17553808, PubMed:18695047, PubMed:18838687, PubMed:19342591, PubMed:19411255, PubMed:19638400, PubMed:23283981, PubMe
PDB 3W6N , 3W6O , 3W6P , 4BEJ , 4H1U , 4H1V , 5WP9 , 8T1H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00350 Dynamin_N 28 217 Dynamin family Domain
PF01031 Dynamin_M 226 510 Dynamin central region Family
PF02212 GED 639 730 Dynamin GTPase effector domain Family
Tissue specificity 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 w
Sequence
Sequence length 736
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
NOD-like receptor signaling pathway
TNF signaling pathway
  Apoptotic execution phase
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
123
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DNM1L-related disorder Likely pathogenic; Pathogenic rs1316999302, rs2540980636, rs886037861 RCV004545826
RCV004545842
RCV003897583
DNM1L-related movement disorder Likely pathogenic rs2137612089 RCV001598695
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 Pathogenic; Likely pathogenic rs2137302207, rs2137523446, rs769684495, rs201259747, rs2541080714, rs2541008031, rs121908531, rs863223953, rs2540980636, rs879253874, rs879255685, rs886037861, rs879255686, rs879255687, rs1952694899
View all (9 more)
RCV001827471
RCV001775395
RCV002507784
RCV005868536
RCV002466320
RCV002468699
RCV000006386
RCV000239677
RCV005254685
RCV000237095
RCV000239637
RCV000239681
RCV000239719
RCV000239652
RCV003225605
RCV003479513
RCV003479514
RCV003314424
RCV003335822
RCV000414839
RCV000757997
RCV000850504
RCV000988806
RCV001251095
RCV001253719
RCV001271120
Mitochondrial disease Likely pathogenic rs1316999302, rs2137520923, rs2137612346 RCV002221285
RCV002221286
RCV002221288
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs7302961 RCV005905661
Familial cancer of breast Conflicting classifications of pathogenicity rs138133550 RCV005893493
Hereditary ataxia Likely benign rs555040961 RCV005626604
Hereditary spastic paraplegia 8 Uncertain significance rs762401850 RCV000785088
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acidosis Lactic Associate 27328748
Adenocarcinoma of Lung Associate 19525928, 31770286
AIDS Associated Nephropathy Associate 32276639
Allanson Pantzar McLeod syndrome Associate 26604000
Alzheimer Disease Inhibit 18599615, 30171839
Alzheimer Disease Associate 24252614, 26122121, 32216003
Ataxia Telangiectasia Associate 27831567
Atherosclerosis Associate 37315759
Brain Diseases Associate 26604000, 30850373, 31475481, 34573276
Breast Neoplasms Stimulate 23128392