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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNMBP Gene

protein-coding   GIFtS: 57
GCID: GC10M101625

dynamin binding protein

 Explore 4 diseases affiliated with
DNMBP via our new
 Human Malady Compendium 
Biological research products
for DNMBP
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Dynamin Binding Protein1 2     Tuba1
ARHGEF361 2     TUBA2
KIAA10101 3     Dynamin-Binding Protein2
Scaffold Protein Tuba2 3     

External Ids:    HGNC: 303731   Entrez Gene: 232682   Ensembl: ENSG000001075547   OMIM: 6112825   UniProtKB: Q6XZF73   

Export aliases for DNMBP gene to outside databases

Previous GC identifers: GC10M101301 GC10M095263


(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 DNMBP:
DNMBP belongs to the DBL (MIM 311030) family of guanine nucleotide exchange factors and plays a role in the regulation
of cell junctions (Otani et al., 2006 (PubMed 17015620)).(supplied by OMIM, Mar 2008)

UniProtKB/Swiss-Prot: DNMBP_HUMAN, Q6XZF7
Function: Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking
between the cell surface and the Golgi (By similarity)




(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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNMBP gene promoter:
         GR   C/EBPbeta   Sp1   AML1a   GR-beta   CUTL1   C/EBPalpha   FOXO4   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNMBP promoter sequence
   Search SABiosciences Chromatin IP Primers for DNMBP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNMBP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24.2   Ensembl cytogenetic band:  10q24.2   HGNC cytogenetic band: 10q24.31

DNMBP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNMBP gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M101625:  view genomic region     (about GC identifiers)

Start:
101,635,334 bp from pter      End:
101,769,676 bp from pter
Size:
134,343 bases      Orientation:
minus strand

(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: DNMBP_HUMAN, Q6XZF7 (See protein sequence)
Recommended Name: Dynamin-binding protein  
Size: 1577 amino acids; 177347 Da
Subunit: Binds DNM1 via its N-terminal SH3 domains. The C-terminal SH3 domain binds a complex containing actin,
tubulin, Hsp70 and actin-regulatory proteins, such as ENAH, EVL, WASL, WIRE, CR16, WAVE1 and NAP1L1 (By similarity).
Interacts with FASLG
Subcellular location: Cytoplasm (By similarity). Golgi apparatus, Golgi stack (By similarity). Cytoplasm, cytoskeleton
(By similarity). Cell junction, synapse (By similarity). Note=Localized to synapses and Golgi stacks (By similarity)
3 PDB 3D structures from and Proteopedia for DNMBP:
1UG1 (3D)        1UHC (3D)        4GLM (3D)    
Secondary accessions: Q8IVY3 Q9Y2L3
Alternative splicing: 2 isoforms:  Q6XZF7-1   Q6XZF7-2   

Explore the universe of human proteins at neXtProt for DNMBP: NX_Q6XZF7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6XZF7

  • DNMBP Protein expression data from MOPED and PaxDb:    About this image 
    DNMBP Protein Expression
    REFSEQ proteins: NP_056036.1  
    ENSEMBL proteins: 
     ENSP00000344914   ENSP00000409476   ENSP00000315659   ENSP00000443657   ENSP00000443573  

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    Uscn Proteins for DNMBP

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm ----
    GO:0005795Golgi stack IEA--
    GO:0005856cytoskeleton IEA--
    GO:0030054cell junction IEA--

    DNMBP for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DNMBP for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011511 SH3_2
     IPR001331 GDS_CDC24_CS
     IPR000219 DH-domain
     IPR000108 p67phox
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry Q6XZF7

    ProtoNet protein and cluster: Q6XZF7

    2 Blocks protein families:
    IPB000219 DH domain
    IPB001452 SH3 domain signature


    UniProtKB/Swiss-Prot: DNMBP_HUMAN, Q6XZF7
    Similarity: Contains 1 BAR domain
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 6 SH3 domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DNMBP_HUMAN, Q6XZF7
    Function: Scaffold protein that links dynamin with actin-regulating proteins. May play a role in membrane trafficking
    between the cell surface and the Golgi (By similarity)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding IPI18654987
    GO:0019904protein domain specific binding IEA--
         
    DNMBP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DNMBP:
     Increased cell number in G1, s  Upregulation of Wnt/beta-caten 

    Animal Models:
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    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Regulation of CDC42 activity
    Regulation of CDC42 activity1.00


    1 BioSystems Pathway for DNMBP 
        Regulation of CDC42 activity


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DNMBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/27 Interacting proteins for DNMBP (Q6XZF71, 2, 3 ENSP000003156594) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BIN3Q9NQY01, 3, ENSP000002764164EBI-2483419,EBI-2653038 I2D: score=1 STRING: ENSP00000276416
    HSPA1AP081073, ENSP000003648024I2D: score=2 STRING: ENSP00000364802
    DBN1Q166433, ENSP000002923854I2D: score=3 STRING: ENSP00000292385
    EVLQ9UI083, ENSP000003766524I2D: score=3 STRING: ENSP00000376652
    HSPA1BP081073I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0035023regulation of Rho protein signal transduction IEA--
    GO:0035556intracellular signal transduction IEA--

    DNMBP for ontologies           About GeneDecksing



    (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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNMBP
    Search CenterWatch for drugs/clinical trials and news about DNMBP 

    (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,
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    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 DNMBP gene: 
    NM_015221.2  

    Unigene Cluster for DNMBP:

    Dynamin binding protein
    Hs.500771  [show with all ESTs]
    Unigene Representative Sequence: AL833283
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342239 ENST00000472036 ENST00000422692 ENST00000324109(uc001kqj.2)
    ENST00000543621(uc010qpl.1 uc001kqg.2 uc001kqh.2) ENST00000540316


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    Additional cDNA sequence: 

    AB023227.1 AK128576.1 AK303479.1 AL833283.1 AY196211.1 BC020878.1 BC041628.1 

    9 DOTS entries:

    DT.95161885  DT.100773185  DT.97774558  DT.415181  DT.40202675  DT.102830907  DT.102830909  DT.95149546 
    DT.95161887 

    24/135 AceView cDNA sequences (see all 135):

    BM700538 AA256362 AI738799 AB023227 AI050887 AA368584 BU737766 BQ065423 
    BQ065447 BE875869 AA453500 AI887820 BM799250 CF541074 CR597882 BM977036 
    CA443795 C01369 AA330182 AW104270 BQ957745 BX094807 AI332721 AW474597 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DNMBP (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12
    SP1:                                                                                                                        
    SP2:                                                                                                                        
    SP3:        -     -           -                                                                                             
    SP4:                          -                                                                                             
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for DNMBP

    (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

    DNMBP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATTTGTCT
    DNMBP Expression
    About this image
    See DNMBP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNMBP

    SOURCE GeneReport for Unigene cluster: Hs.500771

    UniProtKB/Swiss-Prot: DNMBP_HUMAN, Q6XZF7
    Tissue specificity: Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas

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    In Situ
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    (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 animals.

    Orthologs for DNMBP gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DNMBP1 dynamin binding protein 67.46(n)
    66.37(a)
      423827  XM_421697.3  XP_421697.3 
    lizard
    (Anolis carolinensis)
    Reptilia DNMBP6
    --
    62(a)
    1 ↔ 1
    3(38224689-38269291)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.194082 Xenopus laevis transcribed sequence with weak similarity more 73.57(n)    BJ096371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dnmbp1 dynamin binding protein 58.03(n)
    55.3(a)
      100005174  XM_001921520.2  XP_001921555.2 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    28(a)
    possible ortholog
    Group1.56(299977-304363)
    worm
    (Caenorhabditis elegans)
    Secernentea Y37A1B.176
    --
    14(a)
    1 → many
    IV(13964336-13979822)


    ENSEMBL Gene Tree for DNMBP (if available)
    TreeFam Gene Tree for DNMBP (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNMBP gene
    ARHGEF382  ARHGEF372  
    4 SIMAP similar genes for DNMBP using alignment to 4 protein entries:     DNMBP_HUMAN (see all proteins):
    SH3GL2    ARHGEF38    SH3GL1    ITSN1

    DNMBP for paralogs           About GeneDecksing



    (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

    10/2452 NCBI SNPs in DNMBP are shown (see all 2452    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113570761,2
    C--101634836(+) TTTTT-/TTTTTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs70883691,2
    C,F,A,H--101634952(+) GCCACT/CTGATT 1 -- int18Minor allele frequency- C:0.25NA WA EA 370
    rs70706251,2
    C,F,A,H--101634959(+) GATTAG/TCCAGG 1 -- int113Minor allele frequency- T:0.18NS EA NA CSA WA 757
    rs2013948891,2
    --101634959(+) ATTAG-/CCCAGG 1 -- int10--------
    rs1918338821,2
    --101634987(+) CCATGA/CCCGGC 1 -- int10--------
    rs1839095271,2
    --101635052(+) TCAAAC/TTCTTG 1 -- int10--------
    rs1882515621,2
    --101635062(+) GGCCTC/TAAGTG 1 -- int10--------
    rs70705371,2
    C,F,A,H--101635077(+) GCCCAC/ACTTGG 1 -- int17Minor allele frequency- A:0.46NA CSA 131
    rs70885601,2
    C,F,A,H--101635138(+) GAGTAT/CATAGA 1 -- int112Minor allele frequency- C:0.31NA CSA WA EA 507
    rs111903031,2
    C,F,H--101635209(+) ATTCTC/TCCAGA 1 -- int15Minor allele frequency- T:0.13NS EA 504

    HapMap Linkage Disequilibrium report for DNMBP (101635334 - 101769676 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DNMBP
         1 CNV: 48392
    Human Gene Mutation Database (HGMD): DNMBP

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DNMBP for disorders           About GeneDecksing

    OMIM gene information: 611282    OMIM disorders: --

    4 diseases for DNMBP:    About MalaCards
    alzheimer's disease    dementia    pancreatic cancer    pancreatitis

    Human Genome Epidemiology (HuGE) Navigator: DNMBP (6 documents)

    Export disorders for DNMBP gene to outside databases

    (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)
    About This Section

    PubMed articles for DNMBP gene, integrated from 9 sources (see all 27):
    (articles sorted by number of sources associating them with DNMBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton. (PubMed id 14506234)1, 2, 3 Salazar M.A.... De Camilli P. (2003)
    2. Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10231032)1, 2, 3 Nagase T.... Ohara O. (1999)
    3. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M....Janssen O. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. DNMBP is genetically associated with Alzheimer dementia in the Belgian population. (PubMed id 18359537)1, 9 Bettens K....Van Broeckhoven C. (2008)
    6. Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample. (PubMed id 18452187)1, 9 Morgan A.R....Williams J. (2008)
    7. Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease. (PubMed id 16740596)1, 9 Kuwano R....Ihara Y. (2006)
    8. No association of dynamin binding protein (DNMBP) gen e SNPs and Alzheimer's disease. (PubMed id 17442457)1, 9 Minster R.L....Kamboh M.I. (2008)
    9. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    10. Comprehensive analysis of interactions between the Src -associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23268 HGNC: 30373 AceView: DNMBP Ensembl:ENSG00000107554 euGenes: HUgn23268
    ECgene: DNMBP H-InvDB: DNMBP

    (According to HUGE)
    About This Section
    HUGE: KIAA1010

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNMBP Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNMBP gene:
    Search GeneIP for patents involving DNMBP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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