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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

MalaCards

our new
Human Malady Compendium

(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 plasmid: DNMBP 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

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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005737	cytoplasm	--	--
GO:0005795	Golgi stack	IEA	--
GO:0005856	cytoskeleton	IEA	--
GO:0030054	cell 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,
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: 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)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IEA	--
GO:0005515	protein binding	IPI	18654987
GO:0019904	protein domain specific binding	IEA	--

DNMBP for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for DNMBP:

Increased cell number in G1, s

Upregulation of Wnt/beta-caten

(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-pathway

contained gene-specific pathways

Regulation of CDC42 activity

Regulation of CDC42 activity

1.00

1 BioSystems Pathway for DNMBP

Regulation of CDC42 activity

Interactions:

SABiosciences Gene Network Central^TM 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 (Q6XZF7^{1, 2, 3} ENSP00000315659⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BIN3	Q9NQY0¹^,³, ENSP00000276416⁴	EBI-2483419,EBI-2653038 I2D: score=1 STRING: ENSP00000276416
HSPA1A	P08107³, ENSP00000364802⁴	I2D: score=2 STRING: ENSP00000364802
DBN1	Q16643³, ENSP00000292385⁴	I2D: score=3 STRING: ENSP00000292385
EVL	Q9UI08³, ENSP00000376652⁴	I2D: score=3 STRING: ENSP00000376652
HSPA1B	P08107³	I2D: score=2

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0035023	regulation of Rho protein signal transduction	IEA	--
GO:0035556	intracellular 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

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 to protein refNP_003969.1 (H.sapiens) proline-serine-threonine phosphatase interacting protein 1; CD2 cytoplasmic tail-binding protein [Homo sapiens] less	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

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs11357076^1,2	C	--	101634836(+)	`TTTTT-/TTTTTT`	1	--	int¹		1		NA	2
rs7088369^1,2	C,F,A,H,	--	101634952(+)	`GCCACT/CTGATT`	1	--	int¹		8		NA WA EA	370
rs7070625^1,2	C,F,A,H,	--	101634959(+)	`GATTAG/TCCAGG`	1	--	int¹		13		NS EA NA CSA WA	757
rs201394889^1,2		--	101634959(+)	`ATTAG-/CCCAGG`	1	--	int¹		0	--	--	--	--
rs191833882^1,2		--	101634987(+)	`CCATGA/CCCGGC`	1	--	int¹		0	--	--	--	--
rs183909527^1,2		--	101635052(+)	`TCAAAC/TTCTTG`	1	--	int¹		0	--	--	--	--
rs188251562^1,2		--	101635062(+)	`GGCCTC/TAAGTG`	1	--	int¹		0	--	--	--	--
rs7070537^1,2	C,F,A,H,	--	101635077(+)	`GCCCAC/ACTTGG`	1	--	int¹		7		NA CSA	131
rs7088560^1,2	C,F,A,H,	--	101635138(+)	`GAGTAT/CATAGA`	1	--	int¹		12		NA CSA WA EA	507
rs11190303^1,2	C,F,H,	--	101635209(+)	`ATTCTC/TCCAGA`	1	--	int¹		5		NS 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

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNMBP

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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

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)
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)
Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)^{1, 2} Voss M....Janssen O. (2009)
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)
DNMBP is genetically associated with Alzheimer dementia in the Belgian population. (PubMed id 18359537)^{1, 9} Bettens K....Van Broeckhoven C. (2008)
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)
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)
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)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
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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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 23268	HGNC: 30373	AceView: DNMBP	Ensembl:ENSG00000107554	euGenes: HUgn23268
ECgene: DNMBP	H-InvDB: DNMBP

(According to HUGE)
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HUGE: KIAA1010

(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 DNMBP	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DNMBP gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for DNMBP gene:
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