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UniProtKB - Q6XZF7 (DNMBP_HUMAN)

Entry version 166 (25 May 2022)
Sequence version 1 (05 Jul 2004)
Previous versions | rss
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Protein

Dynamin-binding protein

Gene

DNMBP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a critical role as a guanine nucleotide exchange factor (GEF) for CDC42 in several intracellular processes associated with the actin and microtubule cytoskeleton. Regulates the structure of apical junctions through F-actin organization in epithelial cells (PubMed:19767742, PubMed:17015620).

Participates in the normal lumenogenesis of epithelial cell cysts by regulating spindle orientation (PubMed:20479467).

Plays a role in ciliogenesis (By similarity).

May play a role in membrane trafficking between the cell surface and the Golgi (By similarity).

By similarity3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6XZF7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-9013148, CDC42 GTPase cycle

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q6XZF7

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q6XZF7

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Dynamin-binding proteinImported
Alternative name(s):
Scaffold protein Tuba1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DNMBPImported
Synonyms:ARHGEF36Imported, KIAA10101 Publication, TUBA1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30373, DNMBP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611282, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6XZF7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000107554

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton, Golgi apparatus, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cataract 48 (CTRCT48)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081450271 – 1577Missing in CTRCT48. 1 PublicationAdd BLAST1307

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1521V → R: Decreased interaction of SH3 domain 6 with L.monocytogenes InlC. 1 Publication1
Mutagenesisi1529P → A: Wild-type interaction of SH3 domain 6 with L.monocytogenes InlC. 1 Publication1
Mutagenesisi1569N → R: Decreased interaction of SH3 domain 6 with L.monocytogenes InlC. 1 Publication1

Keywords - Diseasei

Cataract, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		23268

MalaCards human disease database

More...MalaCardsi		DNMBP
MIMi618415, phenotype

Open Targets

More...OpenTargetsi		ENSG00000107554

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		98994, Total early-onset cataract

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134950706

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6XZF7, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL4295871

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DNMBP

Domain mapping of disease mutations (DMDM)

More...DMDMi		56404535

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000799591 – 1577Dynamin-binding proteinAdd BLAST1577

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei496PhosphoserineCombined sources1
Modified residuei684PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6XZF7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6XZF7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6XZF7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6XZF7

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q6XZF7

PeptideAtlas

More...PeptideAtlasi		Q6XZF7

PRoteomics IDEntifications database

More...PRIDEi		Q6XZF7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		67829 [Q6XZF7-1]
67830 [Q6XZF7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6XZF7

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q6XZF7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q6XZF7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected in heart, brain, lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107554, Expressed in female gonad and 233 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6XZF7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6XZF7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000107554, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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, WIRE, CR16, WAVE1 and NAP1L1 (By similarity).

Interacts with FASLG (PubMed:19807924).

Interacts (via SH3 domain 6) with WASL (PubMed:19767742, PubMed:24332715, PubMed:17015620).

Interacts (via SH3 domain 6) interacts with ENAH (PubMed:24332715).

Interacts (via C-terminal domain) with TJP1; required for the apical cell-cell junction localization of DNMBP (PubMed:17015620).

By similarity4 Publications

(Microbial infection) Interacts (via SH3 domain 6) with L.monocytogenes InlC.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116869, 111 interactors

Database of interacting proteins

More...DIPi		DIP-53822N

Protein interaction database and analysis system

More...IntActi		Q6XZF7, 32 interactors

Molecular INTeraction database

More...MINTi		Q6XZF7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000315659

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6XZF7, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11577
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q6XZF7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q6XZF7

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q6XZF7

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini2 – 61SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini66 – 126SH3 2PROSITE-ProRule annotationAdd BLAST61
Domaini145 – 204SH3 3PROSITE-ProRule annotationAdd BLAST60
Domaini243 – 302SH3 4PROSITE-ProRule annotationAdd BLAST60
Domaini784 – 967DHPROSITE-ProRule annotationAdd BLAST184
Domaini1008 – 1217BARPROSITE-ProRule annotationAdd BLAST210
Domaini1285 – 1348SH3 5PROSITE-ProRule annotationAdd BLAST64
Domaini1513 – 1576SH3 6PROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni211 – 244DisorderedSequence analysisAdd BLAST34
Regioni335 – 395DisorderedSequence analysisAdd BLAST61
Regioni591 – 624DisorderedSequence analysisAdd BLAST34
Regioni639 – 659DisorderedSequence analysisAdd BLAST21
Regioni1348 – 1487DisorderedSequence analysisAdd BLAST140

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili693 – 757Sequence analysisAdd BLAST65
Coiled coili1136 – 1173Sequence analysisAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi335 – 351Basic and acidic residuesSequence analysisAdd BLAST17
Compositional biasi591 – 610Basic and acidic residuesSequence analysisAdd BLAST20
Compositional biasi1352 – 1405Polar residuesSequence analysisAdd BLAST54
Compositional biasi1414 – 1448Polar residuesSequence analysisAdd BLAST35

Keywords - Domaini

Coiled coil, Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3519, Eukaryota
KOG4225, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183088

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_252350_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6XZF7

Database of Orthologous Groups

More...OrthoDBi		207472at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6XZF7

TreeFam database of animal gene trees

More...TreeFami		TF330015

Family and domain databases

Conserved Domains Database

More...CDDi		cd00160, RhoGEF, 1 hit
cd11798, SH3_DNMBP_C1, 1 hit
cd11794, SH3_DNMBP_N1, 1 hit
cd11795, SH3_DNMBP_N2, 1 hit
cd11796, SH3_DNMBP_N3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.1270.60, 1 hit
1.20.900.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027267, AH/BAR_dom_sf
IPR004148, BAR_dom
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR035469, DNMBP
IPR035820, DNMBP_SH3_C1
IPR035817, DNMBP_SH3_N1
IPR035818, DNMBP_SH3_N2
IPR035819, DNMBP_SH3_N3
IPR001331, GDS_CDC24_CS
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain

The PANTHER Classification System

More...PANTHERi		PTHR22834:SF19, PTHR22834:SF19, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03114, BAR, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 3 hits
PF07653, SH3_2, 1 hit
PF14604, SH3_9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00721, BAR, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103657, SSF103657, 1 hit
SSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 6 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51021, BAR, 1 hit
PS00741, DH_1, 1 hit
PS50010, DH_2, 1 hit
PS50002, SH3, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6XZF7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEAGSVVRAI FDFCPSVSEE LPLFVGDIIE VLAVVDEFWL LGKKEDVTGQ 
        60         70         80         90        100
FPSSFVEIVT IPSLKEGERL FVCICEFTSQ ELDNLPLHRG DLVILDGIPT 
       110        120        130        140        150
AGWLQGRSCW GARGFFPSSC VRELCLSSQS RQWHSQSALF QIPEYSMGQA 
       160        170        180        190        200
RALMGLSAQL DEELDFREGD VITIIGVPEP GWFEGELEGR RGIFPEGFVE 
       210        220        230        240        250
LLGPLRTVDE SVSSGNQDDC IVNGEVDTPV GEEEIGPDED EEEPGTYGVA 
       260        270        280        290        300
LYRFQALEPN ELDFEVGDKI RILATLEDGW LEGSLKGRTG IFPYRFVKLC 
       310        320        330        340        350
PDTRVEETMA LPQEGSLARI PETSLDCLEN TLGVEEQRHE TSDHEAEEPD 
       360        370        380        390        400
CIISEAPTSP LGHLTSEYDT DRNSYQDEDT AGGPPRSPGV EWEMPLATDS 
       410        420        430        440        450
PTSDPTEVVN GISSQPQVPF HPNLQKSQYY STVGGSHPHS EQYPDLLPLE 
       460        470        480        490        500
ARTRDYASLP PKRMYSQLKT LQKPVLPLYR GSSVSASRVV KPRQSSPQLH 
       510        520        530        540        550
NLASYTKKHH TSSVYSISER LEMKPGPQAQ GLVMEAATHS QGDGSTDLDS 
       560        570        580        590        600
KLTQQLIEFE KSLAGPGTEP DKILRHFSIM DFNSEKDIVR GSSKLITEQE 
       610        620        630        640        650
LPERRKALRP PPPRPCTPVS TSPHLLVDQN LKPAPPLVVR PSRPAPLPPS 
       660        670        680        690        700
AQQRTNAVSP KLLSRHRPTC ETLEKEGPGH MGRSLDQTSP CPLVLVRIEE 
       710        720        730        740        750
MERDLDMYSR AQEELNLMLE EKQDESSRAE TLEDLKFCES NIESLNMELQ 
       760        770        780        790        800
QLREMTLLSS QSSSLVAPSG SVSAENPEQR MLEKRAKVIE ELLQTERDYI 
       810        820        830        840        850
RDLEMCIERI MVPMQQAQVP NIDFEGLFGN MQMVIKVSKQ LLAALEISDA 
       860        870        880        890        900
VGPVFLGHRD ELEGTYKIYC QNHDEAIALL EIYEKDEKIQ KHLQDSLADL 
       910        920        930        940        950
KSLYNEWGCT NYINLGSFLI KPVQRVMRYP LLLMELLNST PESHPDKVPL 
       960        970        980        990       1000
TNAVLAVKEI NVNINEYKRR KDLVLKYRKG DEDSLMEKIS KLNIHSIIKK 
      1010       1020       1030       1040       1050
SNRVSSHLKH LTGFAPQIKD EVFEETEKNF RMQERLIKSF IRDLSLYLQH 
      1060       1070       1080       1090       1100
IRESACVKVV AAVSMWDVCM ERGHRDLEQF ERVHRYISDQ LFTNFKERTE 
      1110       1120       1130       1140       1150
RLVISPLNQL LSMFTGPHKL VQKRFDKLLD FYNCTERAEK LKDKKTLEEL 
      1160       1170       1180       1190       1200
QSARNNYEAL NAQLLDELPK FHQYAQGLFT NCVHGYAEAH CDFVHQALEQ 
      1210       1220       1230       1240       1250
LKPLLSLLKV AGREGNLIAI FHEEHSRVLQ QLQVFTFFPE SLPATKKPFE 
      1260       1270       1280       1290       1300
RKTIDRQSAR KPLLGLPSYM LQSEELRASL LARYPPEKLF QAERNFNAAQ 
      1310       1320       1330       1340       1350
DLDVSLLEGD LVGVIKKKDP MGSQNRWLID NGVTKGFVYS SFLKPYNPRR 
      1360       1370       1380       1390       1400
SHSDASVGSH SSTESEHGSS SPRFPRQNSG STLTFNPSSM AVSFTSGSCQ 
      1410       1420       1430       1440       1450
KQPQDASPPP KECDQGTLSA SLNPSNSESS PSRCPSDPDS TSQPRSGDSA 
      1460       1470       1480       1490       1500
DVARDVKQPT ATPRSYRNFR HPEIVGYSVP GRNGQSQDLV KGCARTAQAP 
      1510       1520       1530       1540       1550
EDRSTEPDGS EAEGNQVYFA VYTFKARNPN ELSVSANQKL KILEFKDVTG 
      1560       1570 
NTEWWLAEVN GKKGYVPSNY IRKTEYT
Length:1,577
Mass (Da):177,347
Last modified:July 5, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i5A1FDCB06124F627
GO
Isoform 2 (identifier: Q6XZF7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-754: Missing.

Show »
Length:823
Mass (Da):93,498
Checksum:i535FFA230587539F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GTX1A0A1B0GTX1_HUMAN
Dynamin-binding protein
DNMBP
1,209Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1C7CYY6A0A1C7CYY6_HUMAN
Dynamin-binding protein
DNMBP
865Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti831M → T in AAH41628 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05095581E → D. Corresponds to variant dbSNP:rs12267912Ensembl.1
Natural variantiVAR_081450271 – 1577Missing in CTRCT48. 1 PublicationAdd BLAST1307
Natural variantiVAR_050956373N → K. Corresponds to variant dbSNP:rs35924554Ensembl.1
Natural variantiVAR_050957914N → K. Corresponds to variant dbSNP:rs7919507Ensembl.1
Natural variantiVAR_0243391413C → W1 PublicationCorresponds to variant dbSNP:rs11190305Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0120791 – 754Missing in isoform 2. 1 PublicationAdd BLAST754

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AY196211 mRNA Translation: AAP34307.1
AB023227 mRNA Translation: BAA76854.1
BC041628 mRNA Translation: AAH41628.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7485.1 [Q6XZF7-1]

NCBI Reference Sequences

More...RefSeqi		NP_001305255.1, NM_001318326.1
NP_001305256.1, NM_001318327.1
NP_056036.1, NM_015221.3 [Q6XZF7-1]
XP_011537861.1, XM_011539559.2 [Q6XZF7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000324109.9; ENSP00000315659.4; ENSG00000107554.17

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23268

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23268

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000324109.9; ENSP00000315659.4; NM_015221.4; NP_056036.1

UCSC genome browser

More...UCSCi		uc001kqg.3, human [Q6XZF7-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY196211 mRNA Translation: AAP34307.1
AB023227 mRNA Translation: BAA76854.1
BC041628 mRNA Translation: AAH41628.1
CCDSiCCDS7485.1 [Q6XZF7-1]
RefSeqiNP_001305255.1, NM_001318326.1
NP_001305256.1, NM_001318327.1
NP_056036.1, NM_015221.3 [Q6XZF7-1]
XP_011537861.1, XM_011539559.2 [Q6XZF7-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1UG1NMR-A1278-1355[»]
1UHCNMR-A1510-1575[»]
4CC2X-ray1.55A/C1513-1577[»]
4CC3X-ray1.97A/C/E/G1513-1577[»]
4CC4X-ray2.60B/D/F1513-1577[»]
4CC7X-ray1.97A/C/E/G/I/K/M1513-1577[»]
4GLMX-ray1.90A/B/C/D246-301[»]
AlphaFoldDBiQ6XZF7
SMRiQ6XZF7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116869, 111 interactors
DIPiDIP-53822N
IntActiQ6XZF7, 32 interactors
MINTiQ6XZF7
STRINGi9606.ENSP00000315659

Chemistry databases

ChEMBLiCHEMBL4295871

PTM databases

iPTMnetiQ6XZF7
MetOSiteiQ6XZF7
PhosphoSitePlusiQ6XZF7

Genetic variation databases

BioMutaiDNMBP
DMDMi56404535

Proteomic databases

EPDiQ6XZF7
jPOSTiQ6XZF7
MassIVEiQ6XZF7
MaxQBiQ6XZF7
PaxDbiQ6XZF7
PeptideAtlasiQ6XZF7
PRIDEiQ6XZF7
ProteomicsDBi67829 [Q6XZF7-1]
67830 [Q6XZF7-2]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q6XZF7, 6 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31117, 144 antibodies from 25 providers

The DNASU plasmid repository

More...DNASUi		23268

Genome annotation databases

EnsembliENST00000324109.9; ENSP00000315659.4; ENSG00000107554.17
GeneIDi23268
KEGGihsa:23268
MANE-SelectiENST00000324109.9; ENSP00000315659.4; NM_015221.4; NP_056036.1
UCSCiuc001kqg.3, human [Q6XZF7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23268
DisGeNETi23268

GeneCards: human genes, protein and diseases

More...GeneCardsi		DNMBP
HGNCiHGNC:30373, DNMBP
HPAiENSG00000107554, Low tissue specificity
MalaCardsiDNMBP
MIMi611282, gene
618415, phenotype
neXtProtiNX_Q6XZF7
OpenTargetsiENSG00000107554
Orphaneti98994, Total early-onset cataract
PharmGKBiPA134950706
VEuPathDBiHostDB:ENSG00000107554

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3519, Eukaryota
KOG4225, Eukaryota
GeneTreeiENSGT00950000183088
HOGENOMiCLU_252350_0_0_1
InParanoidiQ6XZF7
OrthoDBi207472at2759
PhylomeDBiQ6XZF7
TreeFamiTF330015

Enzyme and pathway databases

PathwayCommonsiQ6XZF7
ReactomeiR-HSA-9013148, CDC42 GTPase cycle
SignaLinkiQ6XZF7
SIGNORiQ6XZF7

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23268, 14 hits in 1078 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		DNMBP, human
EvolutionaryTraceiQ6XZF7

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23268
PharosiQ6XZF7, Tbio

Protein Ontology

More...PROi		PR:Q6XZF7
RNActiQ6XZF7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107554, Expressed in female gonad and 233 other tissues
ExpressionAtlasiQ6XZF7, baseline and differential
GenevisibleiQ6XZF7, HS

Family and domain databases

CDDicd00160, RhoGEF, 1 hit
cd11798, SH3_DNMBP_C1, 1 hit
cd11794, SH3_DNMBP_N1, 1 hit
cd11795, SH3_DNMBP_N2, 1 hit
cd11796, SH3_DNMBP_N3, 1 hit
Gene3Di1.20.1270.60, 1 hit
1.20.900.10, 1 hit
InterProiView protein in InterPro
IPR027267, AH/BAR_dom_sf
IPR004148, BAR_dom
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR035469, DNMBP
IPR035820, DNMBP_SH3_C1
IPR035817, DNMBP_SH3_N1
IPR035818, DNMBP_SH3_N2
IPR035819, DNMBP_SH3_N3
IPR001331, GDS_CDC24_CS
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
PANTHERiPTHR22834:SF19, PTHR22834:SF19, 1 hit
PfamiView protein in Pfam
PF03114, BAR, 1 hit
PF00621, RhoGEF, 1 hit
PF00018, SH3_1, 3 hits
PF07653, SH3_2, 1 hit
PF14604, SH3_9, 1 hit
SMARTiView protein in SMART
SM00721, BAR, 1 hit
SM00325, RhoGEF, 1 hit
SM00326, SH3, 6 hits
SUPFAMiSSF103657, SSF103657, 1 hit
SSF48065, SSF48065, 1 hit
SSF50044, SSF50044, 6 hits
PROSITEiView protein in PROSITE
PS51021, BAR, 1 hit
PS00741, DH_1, 1 hit
PS50010, DH_2, 1 hit
PS50002, SH3, 6 hits

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDNMBP_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6XZF7
Secondary accession number(s): Q8IVY3, Q9Y2L3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 7, 2004
Last sequence update: July 5, 2004
Last modified: May 25, 2022
This is version 166 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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