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DBN1 (drebrin 1)

Written2013-09John Chilton
Biomedical Neuroscience Research Group, University of Exeter Medical School, Hatherly Laboratories, Prince of Wales Road, Exeter EX4 4PS, UK

(Note : for Links provided by Atlas : click)

Identity

Alias_namesD0S117E
Other alias
HGNC (Hugo) DBN1
LocusID (NCBI) 1627
Atlas_Id 51520
Location 5q35.3  [Link to chromosome band 5q35]
Location_base_pair Starts at 177456613 and ends at 177473693 bp from pter ( according to hg19-Feb_2009)  [Mapping DBN1.png]
Fusion genes
(updated 2016)
ANO10 (3p22.1) / DBN1 (5q35.3)CD34 (1q32.2) / DBN1 (5q35.3)DBN1 (5q35.3) / PTMS (12p13.31)
DBN1 (5q35.3) / SCAF8 (6q25.2)MALAT1 (11q13.1) / DBN1 (5q35.3)

DNA/RNA

Description 14 exons.
Transcription Two alternatively spliced isoforms:
- NCBI LOCUS NM_004395 2942 bp corresponds to DBN1a variant,
- NCBI LOCUS NM_080881 3058 bp corresponds to DBN1b variant.

Protein

 
Description DBN1 encodes a 71 kDa protein of ~650 amino acids (DBN1a has 649 amino acids, DBN1b has 651 amino acids). The N-terminus contains an ADF/Cofilin homology domain (Poukkula et al., 2011) followed by a coiled-coil and a helical domain which each contain an actin-binding site (Worth et al., 2013). The C-terminus contains no identifiable domain structure apart from two Homer binding motifs and can provide intramolecular regulation of F-actin binding (Worth et al., 2013).
In some species (chick, rat) developmental regulation of the protein occurs such that at the earliest stages of development an embryonic 'E1' isoform is expressed. This is then downregulated in favour of an 'E2' isoform containing a 43 amino acid insertion which itself is subsequently superseded by the adult 'A' isoform containing a further 46 amino acids insertion adjacent to the previous one (Kojima et al., 1993). In humans E2 appears to be the predominant isoform.
Expression DBN1 is widely expressed in the nervous system and is also found in other organs, predominantly kidney, stomach, lung and skin (Dun and Chilton, 2010).
Localisation DBN1 localises to actin-rich structures within cells such as the leading edge of neuronal growth cones (Geraldo et al., 2008; Dun et al., 2012) and intercellular junctions (Butkevich et al., 2004; Rehm et al., 2013).
Function At the molecular level, DBN1 stabilises actin filaments (Mikati et al., 2013). It may provide a link between the actin and microtubule networks (Geraldo et al., 2008) and is required for neuronal migration (Dun et al., 2012).
Drebrin function can be regulated by the phosphorylation state of distinct serine residues due to the actions of Cdk5 (Worth et al., 2013) and PTEN (Kreis et al., 2013).
Homology Drebrin is conserved across vertebrates, especially in the first 300 amino acids containing the ADF/Cofilin homology, coiled-coil and helical domains. The closest relative in invertebrate species is actin-binding protein 1 (ABP1).

Implicated in

Note
  
Entity Mantle cell lymphoma
Note Drebrin is a direct target of Sox11 in primary mantle cell lymphomas (Wang et al., 2010).
  
  
Entity B-cell precursor acute lymphoblastic leukemia (BCP-ALL)
Note High levels of drebrin protein expression in BCP-ALL (Vaskova et al., 2011).
  
  
Entity Skin tumours (varied)
Note Drebrin levels are increased compared to control skin samples in basal cell carcinoma, squamous cell carcinoma, melanoma and leiomyosarcoma (Peitsch et al., 2005).
  

Bibliography

Drebrin is a novel connexin-43 binding partner that links gap junctions to the submembrane cytoskeleton.
Butkevich E, Hulsmann S, Wenzel D, Shirao T, Duden R, Majoul I.
Curr Biol. 2004 Apr 20;14(8):650-8.
PMID 15084279
 
Drebrin controls neuronal migration through the formation and alignment of the leading process.
Dun XP, Bandeira de Lima T, Allen J, Geraldo S, Gordon-Weeks P, Chilton JK.
Mol Cell Neurosci. 2012 Mar;49(3):341-50. doi: 10.1016/j.mcn.2012.01.006. Epub 2012 Jan 26.
PMID 22306864
 
Control of cell shape and plasticity during development and disease by the actin-binding protein Drebrin.
Dun XP, Chilton JK.
Histol Histopathol. 2010 Apr;25(4):533-40. (REVIEW)
PMID 20183806
 
Targeting of the F-actin-binding protein drebrin by the microtubule plus-tip protein EB3 is required for neuritogenesis.
Geraldo S, Khanzada UK, Parsons M, Chilton JK, Gordon-Weeks PR.
Nat Cell Biol. 2008 Oct;10(10):1181-9. doi: 10.1038/ncb1778. Epub 2008 Sep 21.
PMID 18806788
 
Molecular cloning of a developmentally regulated brain protein, chicken drebrin A and its expression by alternative splicing of the drebrin gene.
Kojima N, Shirao T, Obata K.
Brain Res Mol Brain Res. 1993 Jul;19(1-2):101-14.
PMID 8361332
 
Phosphorylation of the actin binding protein Drebrin at S647 is regulated by neuronal activity and PTEN.
Kreis P, Hendricusdottir R, Kay L, Papageorgiou IE, van Diepen M, Mack T, Ryves J, Harwood A, Leslie NR, Kann O, Parsons M, Eickholt BJ.
PLoS One. 2013 Aug 5;8(8):e71957. doi: 10.1371/journal.pone.0071957. Print 2013.
PMID 23940795
 
Drebrin-induced stabilization of actin filaments.
Mikati MA, Grintsevich EE, Reisler E.
J Biol Chem. 2013 Jul 5;288(27):19926-38. doi: 10.1074/jbc.M113.472647. Epub 2013 May 21.
PMID 23696644
 
Drebrin, an actin-binding, cell-type characteristic protein: induction and localization in epithelial skin tumors and cultured keratinocytes.
Peitsch WK, Hofmann I, Bulkescher J, Hergt M, Spring H, Bleyl U, Goerdt S, Franke WW.
J Invest Dermatol. 2005 Oct;125(4):761-74.
PMID 16185277
 
Actin-depolymerizing factor homology domain: a conserved fold performing diverse roles in cytoskeletal dynamics.
Poukkula M, Kremneva E, Serlachius M, Lappalainen P.
Cytoskeleton (Hoboken). 2011 Sep;68(9):471-90. doi: 10.1002/cm.20530. Epub 2011 Sep 13. (REVIEW)
PMID 21850706
 
Drebrin preserves endothelial integrity by stabilizing nectin at adherens junctions.
Rehm K, Panzer L, van Vliet V, Genot E, Linder S.
J Cell Sci. 2013 Aug 15;126(Pt 16):3756-69. doi: 10.1242/jcs.129437. Epub 2013 Jun 7.
PMID 23750010
 
High expression of cytoskeletal protein drebrin in TEL/AML1pos B-cell precursor acute lymphoblastic leukemia identified by a novel monoclonal antibody.
Vaskova M, Kovac M, Volna P, Angelisova P, Mejstrikova E, Zuna J, Brdicka T, Hrusak O.
Leuk Res. 2011 Aug;35(8):1111-3. doi: 10.1016/j.leukres.2011.03.028. Epub 2011 Apr 16.
PMID 21497902
 
Gene expression profiling and chromatin immunoprecipitation identify DBN1, SETMAR and HIG2 as direct targets of SOX11 in mantle cell lymphoma.
Wang X, Bjorklund S, Wasik AM, Grandien A, Andersson P, Kimby E, Dahlman-Wright K, Zhao C, Christensson B, Sander B.
PLoS One. 2010 Nov 22;5(11):e14085. doi: 10.1371/journal.pone.0014085.
PMID 21124928
 
Drebrin contains a cryptic F-actin-bundling activity regulated by Cdk5 phosphorylation.
Worth DC, Daly CN, Geraldo S, Oozeer F, Gordon-Weeks PR.
J Cell Biol. 2013 Sep 2;202(5):793-806. doi: 10.1083/jcb.201303005. Epub 2013 Aug 26.
PMID 23979715
 

Citation

This paper should be referenced as such :
Chilton, J
DBN1 (drebrin 1)
Atlas Genet Cytogenet Oncol Haematol. 2014;18(5):299-300.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/DBN1ID51520ch5q35.html


External links

Nomenclature
HGNC (Hugo)DBN1   2695
Cards
AtlasDBN1ID51520ch5q35
Entrez_Gene (NCBI)DBN1  1627  drebrin 1
AliasesD0S117E
GeneCards (Weizmann)DBN1
Ensembl hg19 (Hinxton)ENSG00000113758 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113758 [Gene_View]  chr5:177456613-177473693 [Contig_View]  DBN1 [Vega]
ICGC DataPortalENSG00000113758
TCGA cBioPortalDBN1
AceView (NCBI)DBN1
Genatlas (Paris)DBN1
WikiGenes1627
SOURCE (Princeton)DBN1
Genetics Home Reference (NIH)DBN1
Genomic and cartography
GoldenPath hg38 (UCSC)DBN1  -     chr5:177456613-177473693 -  5q35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DBN1  -     5q35.3   [Description]    (hg19-Feb_2009)
EnsemblDBN1 - 5q35.3 [CytoView hg19]  DBN1 - 5q35.3 [CytoView hg38]
Mapping of homologs : NCBIDBN1 [Mapview hg19]  DBN1 [Mapview hg38]
OMIM126660   
Gene and transcription
Genbank (Entrez)AI683844 AK094125 AK225523 AK295295 AK314645
RefSeq transcript (Entrez)NM_004395 NM_080881
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DBN1
Cluster EST : UnigeneHs.130316 [ NCBI ]
CGAP (NCI)Hs.130316
Alternative Splicing GalleryENSG00000113758
Gene ExpressionDBN1 [ NCBI-GEO ]   DBN1 [ EBI - ARRAY_EXPRESS ]   DBN1 [ SEEK ]   DBN1 [ MEM ]
Gene Expression Viewer (FireBrowse)DBN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1627
GTEX Portal (Tissue expression)DBN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16643
Splice isoforms : SwissVarQ16643
PhosPhoSitePlusQ16643
Domaine pattern : Prosite (Expaxy)ADF_H (PS51263)   
Domains : Interpro (EBI)ADF-H    ADF-H/Gelsolin-like_dom    Drebrin   
Domain families : Pfam (Sanger)Cofilin_ADF (PF00241)   
Domain families : Pfam (NCBI)pfam00241   
Domain families : Smart (EMBL)ADF (SM00102)  
Conserved Domain (NCBI)DBN1
DMDM Disease mutations1627
Blocks (Seattle)DBN1
SuperfamilyQ16643
Human Protein AtlasENSG00000113758
Peptide AtlasQ16643
HPRD00545
IPIIPI00003406   IPI00295624   IPI01012874   IPI00794221   IPI00967040   IPI00965597   IPI00963877   IPI00965316   
Protein Interaction databases
DIP (DOE-UCLA)Q16643
IntAct (EBI)Q16643
FunCoupENSG00000113758
BioGRIDDBN1
STRING (EMBL)DBN1
ZODIACDBN1
Ontologies - Pathways
QuickGOQ16643
Ontology : AmiGOactin binding  protein binding  profilin binding  cytoplasm  plasma membrane  gap junction  actin filament organization  cell communication by chemical coupling  cell communication by electrical coupling  actin cytoskeleton  dendrite  growth cone  cortical cytoskeleton  maintenance of protein location in cell  actomyosin  cadherin binding  regulation of neuronal synaptic plasticity  regulation of dendrite development  neural precursor cell proliferation  
Ontology : EGO-EBIactin binding  protein binding  profilin binding  cytoplasm  plasma membrane  gap junction  actin filament organization  cell communication by chemical coupling  cell communication by electrical coupling  actin cytoskeleton  dendrite  growth cone  cortical cytoskeleton  maintenance of protein location in cell  actomyosin  cadherin binding  regulation of neuronal synaptic plasticity  regulation of dendrite development  neural precursor cell proliferation  
NDEx NetworkDBN1
Atlas of Cancer Signalling NetworkDBN1
Wikipedia pathwaysDBN1
Orthology - Evolution
OrthoDB1627
GeneTree (enSembl)ENSG00000113758
Phylogenetic Trees/Animal Genes : TreeFamDBN1
HOVERGENQ16643
HOGENOMQ16643
Homologs : HomoloGeneDBN1
Homology/Alignments : Family Browser (UCSC)DBN1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDBN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DBN1
dbVarDBN1
ClinVarDBN1
1000_GenomesDBN1 
Exome Variant ServerDBN1
ExAC (Exome Aggregation Consortium)DBN1 (select the gene name)
Genetic variants : HAPMAP1627
Genomic Variants (DGV)DBN1 [DGVbeta]
DECIPHERDBN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDBN1 
Mutations
ICGC Data PortalDBN1 
TCGA Data PortalDBN1 
Broad Tumor PortalDBN1
OASIS PortalDBN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDBN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDBN1
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
BioMutasearch DBN1
DgiDB (Drug Gene Interaction Database)DBN1
DoCM (Curated mutations)DBN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DBN1 (select a term)
intoGenDBN1
NCG5 (London)DBN1
Cancer3DDBN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM126660   
Orphanet
MedgenDBN1
Genetic Testing Registry DBN1
NextProtQ16643 [Medical]
TSGene1627
GENETestsDBN1
Target ValidationDBN1
Huge Navigator DBN1 [HugePedia]
snp3D : Map Gene to Disease1627
BioCentury BCIQDBN1
ClinGenDBN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1627
Chemical/Pharm GKB GenePA27163
Clinical trialDBN1
Miscellaneous
canSAR (ICR)DBN1 (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDBN1
EVEXDBN1
GoPubMedDBN1
iHOPDBN1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 30 11:04:34 CEST 2017

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