Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10059
Gene name Gene Name - the full gene name approved by the HGNC.
Dynamin 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DNM1L
Synonyms (NCBI Gene) Gene synonyms aliases
DLP1, DRP1, DVLP, DYMPLE, EMPF, EMPF1, HDYNIV, OPA5
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p11.21
Summary Summary of gene provided in NCBI Entrez 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 i
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603850 2973 ENSG00000087470
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Encephalopathy Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 rs1057518694, rs1565548029, rs121908531, rs863223953, rs1592661973, rs879253874, rs879255685, rs886037861, rs879255686 N/A
Optic Atrophy Optic atrophy 5 rs1064794656, rs1555229948, rs1555119216 N/A
Obesity obesity rs745921568 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary spastic paraplegia Hereditary spastic paraplegia 8 N/A N/A ClinVar
Leigh Syndrome Leigh syndrome N/A N/A GenCC
retinal dystrophy Retinal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease 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