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DNM1L (dynamin 1 like)

Identity

Alias_symbol (synonym)DRP1
DVLP
HDYNIV
DYMPLE
VPS1
Other aliasDLP1
EMPF
EMPF1
HGNC (Hugo) DNM1L
LocusID (NCBI) 10059
Atlas_Id 50558
Location 12p11.21  [Link to chromosome band 12p11]
Location_base_pair Starts at 32679200 and ends at 32745650 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C1orf174 (1p36.32) / DNM1L (12p11.21)DNM1L (12p11.21) / CDC20B (5q11.2)DNM1L (12p11.21) / GPHN (14q23.3)
DNM1L (12p11.21) / ITPR2 (12p12.1)DNM1L (12p11.21) / RPL37A (2q35)PKP2 (12p11.21) / DNM1L (12p11.21)
VIM (10p13) / DNM1L (12p11.21)DNM1L 12p11.21 / ITPR2 12p12.1PKP2 12p11.21 / DNM1L 12p11.21
VIM 10p13 / DNM1L 12p11.21

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)DNM1L   2973
Cards
Entrez_Gene (NCBI)DNM1L  10059  dynamin 1 like
AliasesDLP1; DRP1; DVLP; DYMPLE; 
EMPF; EMPF1; HDYNIV
GeneCards (Weizmann)DNM1L
Ensembl hg19 (Hinxton)ENSG00000087470 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087470 [Gene_View]  chr12:32679200-32745650 [Contig_View]  DNM1L [Vega]
ICGC DataPortalENSG00000087470
TCGA cBioPortalDNM1L
AceView (NCBI)DNM1L
Genatlas (Paris)DNM1L
WikiGenes10059
SOURCE (Princeton)DNM1L
Genetics Home Reference (NIH)DNM1L
Genomic and cartography
GoldenPath hg38 (UCSC)DNM1L  -     chr12:32679200-32745650 +  12p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DNM1L  -     12p11.21   [Description]    (hg19-Feb_2009)
EnsemblDNM1L - 12p11.21 [CytoView hg19]  DNM1L - 12p11.21 [CytoView hg38]
Mapping of homologs : NCBIDNM1L [Mapview hg19]  DNM1L [Mapview hg38]
OMIM603850   614388   
Gene and transcription
Genbank (Entrez)AA236613 AB006965 AB209070 AF000430 AF061795
RefSeq transcript (Entrez)NM_001278463 NM_001278464 NM_001278465 NM_001278466 NM_001330380 NM_005690 NM_012062 NM_012063
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DNM1L
Cluster EST : UnigeneHs.556296 [ NCBI ]
CGAP (NCI)Hs.556296
Alternative Splicing GalleryENSG00000087470
Gene ExpressionDNM1L [ NCBI-GEO ]   DNM1L [ EBI - ARRAY_EXPRESS ]   DNM1L [ SEEK ]   DNM1L [ MEM ]
Gene Expression Viewer (FireBrowse)DNM1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10059
GTEX Portal (Tissue expression)DNM1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00429   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00429  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00429
Splice isoforms : SwissVarO00429
Catalytic activity : Enzyme3.6.5.5 [ Enzyme-Expasy ]   3.6.5.53.6.5.5 [ IntEnz-EBI ]   3.6.5.5 [ BRENDA ]   3.6.5.5 [ KEGG ]   
PhosPhoSitePlusO00429
Domaine pattern : Prosite (Expaxy)G_DYNAMIN_1 (PS00410)    G_DYNAMIN_2 (PS51718)    GED (PS51388)   
Domains : Interpro (EBI)DNM1L    Dynamin_central    Dynamin_GTPase    Dynamin_GTPase_CS    Dynamin_SF    G_DYNAMIN_dom    GED    GED_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)Dynamin_M (PF01031)    Dynamin_N (PF00350)    GED (PF02212)   
Domain families : Pfam (NCBI)pfam01031    pfam00350    pfam02212   
Domain families : Smart (EMBL)DYNc (SM00053)  GED (SM00302)  
Conserved Domain (NCBI)DNM1L
DMDM Disease mutations10059
Blocks (Seattle)DNM1L
PDB (SRS)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
PDB (PDBSum)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
PDB (IMB)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
PDB (RSDB)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
Structural Biology KnowledgeBase3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
SCOP (Structural Classification of Proteins)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
CATH (Classification of proteins structures)3W6N    3W6O    3W6P    4BEJ    4H1U    4H1V   
SuperfamilyO00429
Human Protein AtlasENSG00000087470
Peptide AtlasO00429
HPRD04833
IPIIPI00146935   IPI00555883   IPI00942042   IPI00473085   IPI00037283   IPI00871742   IPI00909322   IPI00910662   IPI01014443   IPI01010281   IPI01021702   IPI01022698   IPI01022861   IPI01022540   IPI01022455   IPI01021981   IPI01022872   IPI01021728   IPI01022172   IPI00235412   
Protein Interaction databases
DIP (DOE-UCLA)O00429
IntAct (EBI)O00429
FunCoupENSG00000087470
BioGRIDDNM1L
STRING (EMBL)DNM1L
ZODIACDNM1L
Ontologies - Pathways
QuickGOO00429
Ontology : AmiGOGolgi membrane  mitochondrial fission  mitochondrial fission  release of cytochrome c from mitochondria  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  GTPase activator activity  protein binding  GTP binding  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  peroxisome  peroxisome  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  cytosol  cytosol  cytosol  microtubule  brush border  clathrin-coated pit  endocytosis  mitochondrion organization  endoplasmic reticulum organization  microtubule binding  lipid binding  negative regulation of mitochondrial fusion  regulation of mitochondrion organization  membrane  peroxisome fission  peroxisome fission  Rab GTPase binding  cell junction  clathrin binding  synaptic vesicle membrane  GTP-dependent protein binding  ubiquitin protein ligase binding  regulation of protein oligomerization  synaptic vesicle recycling via endosome  protein homodimerization activity  positive regulation of apoptotic process  intracellular membrane-bounded organelle  protein complex  positive regulation of GTPase activity  mitochondrial fragmentation involved in apoptotic process  intracellular distribution of mitochondria  perinuclear region of cytoplasm  positive regulation of protein secretion  protein oligomerization  protein homotetramerization  BH2 domain binding  heart contraction  positive regulation of dendritic spine morphogenesis  membrane fusion  necroptotic process  mitochondrion morphogenesis  protein localization to mitochondrion  positive regulation of mitochondrial fission  positive regulation of mitochondrial fission  mitochondrial membrane fission  positive regulation of release of cytochrome c from mitochondria  cellular response to oxygen-glucose deprivation  execution phase of apoptosis  mitochondrion-derived vesicle  secretory vesicle  regulation of peroxisome organization  positive regulation of synaptic vesicle endocytosis  regulation of mitophagy  regulation of ATP metabolic process  cellular response to thapsigargin  response to flavonoid  response to hypobaric hypoxia  positive regulation of synaptic vesicle exocytosis  positive regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBIGolgi membrane  mitochondrial fission  mitochondrial fission  release of cytochrome c from mitochondria  dynamin family protein polymerization involved in mitochondrial fission  GTPase activity  GTPase activator activity  protein binding  GTP binding  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  peroxisome  peroxisome  endoplasmic reticulum  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  cytosol  cytosol  cytosol  microtubule  brush border  clathrin-coated pit  endocytosis  mitochondrion organization  endoplasmic reticulum organization  microtubule binding  lipid binding  negative regulation of mitochondrial fusion  regulation of mitochondrion organization  membrane  peroxisome fission  peroxisome fission  Rab GTPase binding  cell junction  clathrin binding  synaptic vesicle membrane  GTP-dependent protein binding  ubiquitin protein ligase binding  regulation of protein oligomerization  synaptic vesicle recycling via endosome  protein homodimerization activity  positive regulation of apoptotic process  intracellular membrane-bounded organelle  protein complex  positive regulation of GTPase activity  mitochondrial fragmentation involved in apoptotic process  intracellular distribution of mitochondria  perinuclear region of cytoplasm  positive regulation of protein secretion  protein oligomerization  protein homotetramerization  BH2 domain binding  heart contraction  positive regulation of dendritic spine morphogenesis  membrane fusion  necroptotic process  mitochondrion morphogenesis  protein localization to mitochondrion  positive regulation of mitochondrial fission  positive regulation of mitochondrial fission  mitochondrial membrane fission  positive regulation of release of cytochrome c from mitochondria  cellular response to oxygen-glucose deprivation  execution phase of apoptosis  mitochondrion-derived vesicle  secretory vesicle  regulation of peroxisome organization  positive regulation of synaptic vesicle endocytosis  regulation of mitophagy  regulation of ATP metabolic process  cellular response to thapsigargin  response to flavonoid  response to hypobaric hypoxia  positive regulation of synaptic vesicle exocytosis  positive regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGTNF signaling pathway   
NDEx NetworkDNM1L
Atlas of Cancer Signalling NetworkDNM1L
Wikipedia pathwaysDNM1L
Orthology - Evolution
OrthoDB10059
GeneTree (enSembl)ENSG00000087470
Phylogenetic Trees/Animal Genes : TreeFamDNM1L
HOVERGENO00429
HOGENOMO00429
Homologs : HomoloGeneDNM1L
Homology/Alignments : Family Browser (UCSC)DNM1L
Gene fusions - Rearrangements
Fusion : MitelmanDNM1L/ITPR2 [12p11.21/12p12.1]  
Fusion : MitelmanPKP2/DNM1L [12p11.21/12p11.21]  [t(12;12)(p11;p11)]  
Fusion : MitelmanVIM/DNM1L [10p13/12p11.21]  [t(10;12)(p13;p11)]  
Fusion: TCGADNM1L 12p11.21 ITPR2 12p12.1 LUAD
Fusion: TCGAPKP2 12p11.21 DNM1L 12p11.21 BRCA
Fusion: TCGAVIM 10p13 DNM1L 12p11.21 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDNM1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DNM1L
dbVarDNM1L
ClinVarDNM1L
1000_GenomesDNM1L 
Exome Variant ServerDNM1L
ExAC (Exome Aggregation Consortium)DNM1L (select the gene name)
Genetic variants : HAPMAP10059
Genomic Variants (DGV)DNM1L [DGVbeta]
DECIPHERDNM1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDNM1L 
Mutations
ICGC Data PortalDNM1L 
TCGA Data PortalDNM1L 
Broad Tumor PortalDNM1L
OASIS PortalDNM1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDNM1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDNM1L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch DNM1L
DgiDB (Drug Gene Interaction Database)DNM1L
DoCM (Curated mutations)DNM1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DNM1L (select a term)
intoGenDNM1L
Cancer3DDNM1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603850    614388   
Orphanet21964   
MedgenDNM1L
Genetic Testing Registry DNM1L
NextProtO00429 [Medical]
TSGene10059
GENETestsDNM1L
Target ValidationDNM1L
Huge Navigator DNM1L [HugePedia]
snp3D : Map Gene to Disease10059
BioCentury BCIQDNM1L
ClinGenDNM1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10059
Chemical/Pharm GKB GenePA27441
Clinical trialDNM1L
Miscellaneous
canSAR (ICR)DNM1L (select the gene name)
Probes
Litterature
PubMed182 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDNM1L
EVEXDNM1L
GoPubMedDNM1L
iHOPDNM1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:51:54 CEST 2017

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