DNM1L Gene
protein-coding GIFtS: 62
GCID: GC12P032832
|
|
dynamin 1-like
| |
Aliases
for DNM1L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Dynamin 1-Like1 2 | | DLP12 3 | | DRP11 2 3 5 | | Dnm1p/Vps1p-Like Protein2 3 | | DVLP1 2 3 5 | | EC 3.6.5.53 8 | | DYMPLE1 2 5 | | DYNIV-112 | | HDYNIV1 2 | | EMPF2 | | VPS11 2 | | Dynamin-1-Like Protein2 | | Dynamin Family Member Proline-Rich Carboxyl-Terminal Domain Less2 3 | | Dymple3 | | Dynamin-Like Protein 42 3 | | HdynIV3 | | Dynamin-Like Protein IV2 3 | | Dynamin-Like Protein3 | | Dynamin-Related Protein 12 3 | | |
Export aliases for DNM1L gene to outside databasesPrevious GC identifers: GC12P033322 GC12P032909 GC12P032732 GC12P032723 GC12P032584 |
Summaries
for DNM1L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DNM1L:
The protein encoded by this gene is a member of the dynamin superfamily of GTPases. Members of the dynamin-relatedsubfamily, including the S. cerevisiae proteins Dnm1 and Vps1, contain the N-terminal tripartite GTPase domain but donot have the pleckstrin homology or proline-rich domains. This protein establishes mitochondrial morphology through arole in distributing mitochondrial tubules throughout the cytoplasm. The gene has 3 alternatively spliced transcriptsencoding different isoforms. These transcripts are alternatively polyadenylated. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429Function: Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization intoring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane through aGTP hydrolysis-dependent mechanism. Required for normal brain development. Facilitates developmentally-regulatedapoptosis during neural tube development. Required for a normal rate of cytochrome c release and caspase activationduring apoptosis. Also required for mitochondrial fission during mitosis. Required for programmed necrosis execution.May be involved in vesicle transportFunction: Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressed
Gene Wiki entry for DNM1L
|
Genomic Views
for DNM1L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000012.11 NC_018923.1 NT_009714.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the DNM1L gene promoter:
NF-1 NF-1/L USF1 RREB-1 USF2 USF-1:USF-2 XBP-1 Roaz S8 USF-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DNM1L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNM1L |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12p11.21 Ensembl cytogenetic band: 12p11.21 HGNC cytogenetic band: 12p11.21DNM1L Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P032832: view genomic region
(about GC identifiers)
Start:
|
32,832,134 bp from pter |
End:
|
32,898,584 bp from pter |
Size:
|
66,451 bases |
Orientation:
|
plus strand |
|
Proteins
for DNM1L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429 (See
protein sequence)Recommended Name: Dynamin-1-like protein Size: 736 amino acids; 81877 Da
Subunit: Homotetramer; dimerizes through the N-terminal GTP-middle region of one molecule binding to the GED domain ofanother DNM1L molecule. Can self-assemble in multimeric ring-like structures. Interacts with BCL2L1; the interactionstimulates the GTPase activity of DMN1L in synapses and increases the number of axonal mitochondria and the size andnumber of synaptic vesicle clusters. Interacts with FIS1 (By similarity). Interacts with GSK3B and MARCH5. Interacts(via the GTPase and B domains) with UBE2I; the interaction promotes sumoylation of DNM1L, mainly in ite B domain.Interacts with PPP3CA; the interaction dephosphorylates DNM1L and regulates its transition to mitochondria. Interactswitn MID49 and MID51. Interacts with PGAM5; this interaction leads to dephosphorylation at Ser-637 and activation ofGTPase activity and eventually to mitochondria fragmentation
Subcellular location: Cytoplasm, cytosol. Golgi apparatus. Endomembrane system; Peripheral membrane protein.Mitochondrion outer membrane; Peripheral membrane protein. Note=Mainly cytosolic. Translocated to the mitochondrialmembrane through O-GlcNAcylation and interaction with FIS1. Colocalized with MARCH5 at mitochondrial membrane.Localizes to mitochondria at sites of division. Localizes to mitochondria following necrosis induction. Associatedwith peroxisomal membranes, partly recruited there by PEX11B. May also be associated with endoplasmic reticulumtubules and cytoplasmic vesicles and found to be perinuclear. In some cell types, localizes to the Golgi complex
Secondary accessions: A8K4X9 B4DSU8 O14541 O60709 Q7L6B3 Q8TBT7 Q9BWM1 Q9Y5J2Alternative splicing: 6 isoforms: O00429-1 O00429-2 O00429-3 O00429-4 O00429-5 O00429-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DNM1L: NX_O00429
Post-translational modifications:
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 promotesmitochondrial fission1
Sumoylated on various lysine residues within the B domain, probably by MUL1. Sumoylation positively regulatesmitochondrial fission. Desumoylated by SENP5 during G2/M transition of mitosis. Appears to be linked to its catalyticactivity1
S-nitrosylation increases DNM1L dimerization, mitochondrial fission and causes neuronal damage1
Ubiquitination by MARCH5 affects mitochondrial morphology1
O-GlcNAcylation augments the level of the GTP-bound active form of DRP1 and induces translocation from the cytoplasm tomitochondria in cardiomyocytes. It also decreases phosphorylation at Ser-637 (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O00429
4/23 DME Specific Peptides for DNM1L (O00429) (see all 23)
DNM1L Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_005681.2 NP_036192.2 NP_036193.2
ENSEMBL proteins: ENSP00000415131 ENSP00000449089 ENSP00000450399 ENSP00000350948 ENSP00000266481 ENSP00000450401 ENSP00000447845 ENSP00000447013 ENSP00000390090 ENSP00000396030 ENSP00000448610 ENSP00000448936 ENSP00000370388 ENSP00000447788 ENSP00000448105 ENSP00000448802 ENSP00000404160 Reactome Protein details: O00429
Human Recombinant Protein Products:
Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table
DNM1L for ontologies About GeneDecksing
DNM1L Antibody Products:
Assay Products for DNM1L: |
Protein
Domains /
Families
for DNM1L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNM1L for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry O00429ProtoNet protein and cluster: O00429 1 Blocks protein family: IPB001401 Dynamin
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429Domain: The GED domain folds back to interact, in cis, with the GTP-binding domain and middle domain, and interacts, intrans, with the GED domains of other DNM1L molecules, and is thus critical for activating GTPase activity and forDNM1L dimerizationSimilarity: Belongs to the dynamin familySimilarity: Contains 1 GED domain |
Function
for DNM1L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429Function: Functions in mitochondrial and peroxisomal division. Mediates membrane fission through oligomerization intoring-like structures which wrap around the scission site to constict and sever the mitochondrial membrane through aGTP hydrolysis-dependent mechanism. Required for normal brain development. Facilitates developmentally-regulatedapoptosis during neural tube development. Required for a normal rate of cytochrome c release and caspase activationduring apoptosis. Also required for mitochondrial fission during mitosis. Required for programmed necrosis execution.May be involved in vesicle transportFunction: Isoform 1 and isoform 4 inhibit peroxisomal division when overexpressedCatalytic activity: GTP + H(2)O = GDP + phosphateEnzyme Number (IUBMB): EC 3.6.5.51 2
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DNM1L | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNM1L |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNM1L |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
DNM1L for ontologies About GeneDecksing
Animal Models:
Mouse knock-outs for DNM1L: Dnm1ltm1.2Miha Dnm1ltm1.2Hise
12 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Dnm1l):
DNM1L for phenotypes About GeneDecksing
|
Pathways & Interactions
for DNM1L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytoskeletal Signaling | | | 2 | Synaptic Vesicle Pathway | | | 3 | Endocrine and other factor-regulated calcium reabsorption | | | 4 | Fc gamma R-mediated phagocytosis | | | 5 | Endocytosis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for DNM1L
1  BioSystems Pathway for DNM1L
2 
Reactome Pathways for DNM1L
4 
Kegg Pathways (Kegg details for DNM1L):
DNM1L for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DNM1L
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/855 Interacting proteins for DNM1L (O004291, 2, 3 ENSP000002664814) via UniProtKB, MINT, STRING, and/or I2D (see all 855)About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000266 | mitochondrial fission |
-- | -- | | GO:0003374 | dynamin polymerization involved in mitochondrial fission |
IDA | 11514614 | | GO:0006915 | apoptotic process |
TAS | -- | | GO:0006921 | cellular component disassembly involved in execution phase of apoptosis |
TAS | -- | | GO:0010821 | regulation of mitochondrion organization |
IMP | 18353969 |
DNM1L for ontologies About GeneDecksing
|
Drugs & Compounds
for DNM1L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DNM1L for compounds About GeneDecksing
 Browse Tocris compounds for DNM1L
4 HMDB Compounds for DNM1L About this table
4 Novoseek chemical compound relationships for DNM1L gene About this table
Search CenterWatch for drugs/clinical trials and news about DNM1L
|
Transcripts
for DNM1L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for DNM1L gene (3 alternative transcripts): NM_005690.3 NM_012062.3 NM_012063.2 Unigene Cluster for DNM1L: Dynamin 1-like Hs.556296 [show with all ESTs]Unigene Representative Sequence: NM_01206218/30 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 30): ENST00000452533(uc010skf.1 uc010skg.1 uc001rld.2 uc001rle.2 uc001rlf.2 uc010skh.1 uc001rlg.2 uc001rlh.2 uc010ski.1)
ENST00000553257 ENST00000549701 ENST00000358214 ENST00000548671 ENST00000266481
ENST00000550011 ENST00000551076 ENST00000551643 ENST00000551476 ENST00000550154
ENST00000547932 ENST00000434676 ENST00000413295 ENST00000547312 ENST00000546649
ENST00000381000 ENST00000548750
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): DNM1L (NM_012063) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNM1L | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNM1L |
Additional cDNA sequence: AB006965.1 AB209070.1 AF000430.1 AF061795.1 AF151685.1 AK090788.1 AK291094.1 AK293290.1 AK294533.1 AK298568.1 AK299926.1 AK302565.1 AK311606.1 BC024590.1 BC107763.1 24/37 DOTS entries (see all 37): DT.100014327 DT.91769764 DT.100815808 DT.121151331 DT.442181 DT.100815814 DT.95244954 DT.121151329 DT.121151283 DT.451201 DT.100815806 DT.91963741 DT.100830288 DT.100815812 DT.406467 DT.121151379 DT.75200316 DT.121151292 DT.75165742 DT.100780242 DT.121151352 DT.95245019 DT.100764283 DT.121151349 24/328 AceView cDNA sequences (see all 328): BP343297 AA045529 CD241884 BX462213 AA977240 CA435027 AB006965 BF971583 BU164453 AL043631 BU430105 CR612950 AU136026 BP872404 AW019870 AU130066 F11884 CK430113 AW575808 AA807968 CA389572 BU159121 BQ272398 CB148523
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DNM1L (see all 11) About this scheme
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21 | ^ | 22a | · | 22b | · | 22c | · | 22d |
|---|
|
| SP1: | - | | | | | | | | | | | | | | | | | | |
| SP2: | - | | | | | | | | | | | | | | | | | | |
| SP3: | - | | | | | | | | | | | | | | | | | | |
| SP4: | - | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for DNM1L
|
Expression
for DNM1L gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DNM1L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTATGGTAAT
About this image
See DNM1L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DNM1L
SOURCE GeneReport for Unigene cluster: Hs.556296
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429Tissue 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 musclesrespectively. 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
SABiosciences Expression via Pathway-Focused PCR Array including DNM1L:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNM1L
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNM1L | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNM1L | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNM1L | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNM1L |
Orthologs
for DNM1L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for DNM1L gene from 9/39 species (see all 39) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DNM1L1 |
dynamin 1-like |
84.24(n)
94.83(a) |
|
418132 NM_001079722.1 NP_001073190.1 |
lizard
(Anolis carolinensis) |
Reptilia |
DNM1L6 |
-- |
90(a) |
1 ↔ 1 |
5(10154804-10190528) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BC046374.12 |
-- |
79.32(n) |
|
BC046374.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC055521.12 |
-- |
76.92(n) |
|
393896 BC055521.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
CG32103
Drp11 |
Dynamin related protein 11 |
61(a)3
60.19(n)1
66.8(a)1 |
|
23A13
334451 NM_134850.21 NP_608694.21 |
worm
(Caenorhabditis elegans) |
Secernentea |
drp-11 , 3 |
dynamin-like protein3
Protein DRP-11 |
61(a)3
59.9(n)1
63.07(a)1 |
|
IV(5538681-5541232)3
1773361 NM_171344.21 NP_741403.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
DNM1(YLL001W)4
DNM11 |
Dynamin-related GTPase required for mitochondrial fission more4
Dnm1p1 |
52.55(n)1
48.11(a)1 |
|
12(147890-150163)4
8506861, 4 NP_013100.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
DRP3B6DRP3A6 |
dynamin-related protein 3A |
38(a)37(a) |
1 ↔ many1 ↔ many |
2(5953940-5960123) 4(16160824-16166968) |
rice
(Oryza sativa) |
Liliopsida |
NM_192052.12 |
-- |
68.15(n) |
|
NM_192052.1 |
ENSEMBL Gene Tree for DNM1L (if available)
TreeFam Gene Tree for DNM1L (if available) |
Paralogs
for DNM1L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for DNM1L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 12 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DNM1L (32832134 - 32898584 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DNM1L: --
Human Gene Mutation Database (HGMD): DNM1L
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for DNM1L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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DNM1L for disorders About GeneDecksing
OMIM gene information: 603850
OMIM disorders: --
UniProtKB/Swiss-Prot: DNM1L_HUMAN, O00429
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 Defects in DNM1L are the cause of encephalopathy, lethal, due to defective mitochondrial and peroxisomalfission (EMPF) [MIM:614388]. EMPF is a rare autosomal dominant systemic disorder resulting in lack of neurologicdevelopment and death in infancy. After birth, infants present in the first week of life with poor feeding andneurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to lightstimulation, and poor visual fixation. Other features include mildly elevated plasma concentration of very-long-chainfatty acids, lactic acidosis, microcephaly, deep-set eyes, optic atrophy and hypoplasia, and an abnormal gyral patternin both frontal lobes associated with dysmyelination
18  diseases for DNM1L: About MalaCardsencephalopahty, lethal, due to defective mitochondrial peroxisomal fission charcot-marie-tooth disease tooth disease optic atrophy
spinocerebellar ataxia neurodegenerative disease huntington's disease ataxia
alzheimer's disease lung cancer prostate cancer obesity
hypoxia prostatitis adenocarcinoma pancreatitis
malaria neuronitis
1 disease from the University of Copenhagen DISEASES database for DNM1L:Parkinson's disease 1 Novoseek disease relationship for DNM1L gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| brain tumors |
0.142 |
4 |
10749171 (3), 14741701 (1) |
Human Genome Epidemiology (HuGE) Navigator: DNM1L (1 document)
Export disorders for DNM1L gene to outside databases
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Publications
for DNM1L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed articles for DNM1L gene, integrated from 9 sources (see all 169):
(articles sorted by number of sources associating them with DNM1L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Human dynamin-like protein interacts with the glycogen synthase kinase 3beta. (PubMed id 9731200)1, 2, 3, 9 Hong Y.R....Chow C.C. (1998)
- Identification and subcellular localization of a novel mammalian dynamin-related protein homologous to yeast Vps1p and Dnm1p. (PubMed id 9348079)1, 2, 3, 9 Shin H.-W.... Nakayama K. (1997)
- A human dynamin-related protein controls the distribution of mitochondria. (PubMed id 9786947)1, 2, 9 Smirnova E.... van der Bliek A.M. (1998)
- CaM kinase I alpha-induced phosphorylation of Drp1 regulates mitochondrial morphology. (PubMed id 18695047)1, 2, 9 Han X.J....Matsushita M. (2008)
- Dephosphorylation by calcineurin regulates translocation of Drp1 to mitochondria. (PubMed id 18838687)1, 2, 9 Cereghetti G.M....Scorrano L. (2008)
- Dynamin-related protein Drp1 is required for mitochondrial division in mammalian cells. (PubMed id 11514614)1, 2, 9 Smirnova E.... van der Bliek A.M. (2001)
- Identification and functional characterization of a novel human protein highly related to the yeast dynamin-like GTPase Vps1p. (PubMed id 9570752)1, 2, 9 Imoto M.... Urrutia R. (1998)
- Cyclic AMP-dependent protein kinase phosphorylation of Drp1 regulates its GTPase activity and mitochondrial morphology. (PubMed id 17553808)1, 2, 9 Chang C.R. and Blackstone C. (2007)
- MAPL is a new mitochondrial SUMO E3 ligase that regul ates mitochondrial fission. (PubMed id 19407830)1, 2, 9 Braschi E....McBride H.M. (2009)
- A novel mitochondrial ubiquitin ligase plays a critical role in mitochondrial dynamics. (PubMed id 16874301)1, 2, 9 Yonashiro R....Yanagi S. (2006)
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External Searches for DNM1L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing DNM1L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing DNM1L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DNM1L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
| Name | Description |
| PharmGKB entry for DNM1L | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNM1L gene:
Search GeneIP for patents involving DNM1L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for DNM1L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for DNM1L | | OriGene shRNA RFP for DNM1L | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNM1L | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNM1L | | | OriGene Protein Over-expression Lysate for DNM1L | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DNM1L | | OriGene 3'-UTR Clone for DNM1L | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNM1L | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DNM1L | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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