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UniProtKB - Q9NSV4 (DIAP3_HUMAN)

Entry version 180 (08 May 2019)
Sequence version 4 (11 Sep 2007)
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Protein

Protein diaphanous homolog 3

Gene

DIAPH3

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

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity.By similarity

<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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5663220 RHO GTPases Activate Formins

<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_and_taxonomy_section">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:
Protein diaphanous homolog 3
Alternative name(s):
Diaphanous-related formin-3
Short name:
DRF3
MDia2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:DIAPH3
Synonyms:DIAP3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15480 DIAPH3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614567 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NSV4

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<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>Keywords - Cellular componenti

Cytoplasm, Nucleus

<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

Auditory neuropathy, autosomal dominant, 1 (AUNA1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. A disease-causing mutation in the conserved 5'-UTR leads to increased protein expression.1 Publication
Disease descriptionA form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.
See also OMIM:609129

Keywords - Diseasei

Deafness, Neuropathy, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		81624

MalaCards human disease database

More...MalaCardsi		DIAPH3
MIMi609129 phenotype

Open Targets

More...OpenTargetsi		ENSG00000139734

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

More...Orphaneti		90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27335

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		DIAPH3

Domain mapping of disease mutations (DMDM)

More...DMDMi		158520000

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001948971 – 1193Protein diaphanous homolog 3Add BLAST1193

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 residuei26PhosphoserineCombined sources1
Modified residuei68PhosphothreonineCombined sources1
Modified residuei77PhosphoserineCombined sources1
Modified residuei175PhosphoserineCombined sources1
Modified residuei624PhosphoserineCombined sources1
Modified residuei1093PhosphoserineCombined sources1
Modified residuei1179PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NSV4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NSV4

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

More...PaxDbi		Q9NSV4

PeptideAtlas

More...PeptideAtlasi		Q9NSV4

PRoteomics IDEntifications database

More...PRIDEi		Q9NSV4

ProteomicsDB human proteome resource

More...ProteomicsDBi		82583
82584 [Q9NSV4-1]
82585 [Q9NSV4-2]
82586 [Q9NSV4-4]
82587 [Q9NSV4-5]
82588 [Q9NSV4-6]
82589 [Q9NSV4-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NSV4

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

More...PhosphoSitePlusi		Q9NSV4

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Increased expression in S phase and mitotic cells; levels decrease as cells enter in G0/G1 phase due to proteasomal degradation (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000139734 Expressed in 135 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NSV4 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA032151

<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

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		123559, 36 interactors

Protein interaction database and analysis system

More...IntActi		Q9NSV4, 14 interactors

Molecular INTeraction database

More...MINTi		Q9NSV4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000383178

<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

11193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
5UWPX-ray2.05D1179-1193[»]

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

More...SMRi		Q9NSV4

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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_and_domains_section">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>Domaini114 – 476GBD/FH3PROSITE-ProRule annotationAdd BLAST363
Domaini561 – 631FH1Add BLAST71
Domaini636 – 1034FH2PROSITE-ProRule annotationAdd BLAST399
Domaini1057 – 1087DADPROSITE-ProRule annotationAdd BLAST31

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 coili497 – 554Sequence analysisAdd BLAST58
Coiled coili1013 – 1056Sequence analysisAdd BLAST44

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi36 – 60Nuclear localization signalBy similarityAdd BLAST25
Motifi1184 – 1193Nuclear export signalBy similarity10

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 amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi561 – 636Pro-richAdd BLAST76

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the formin homology family. Diaphanous subfamily.Curated

Keywords - Domaini

Coiled coil, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1924 Eukaryota
ENOG410Y29H LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157767

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NSV4

KEGG Orthology (KO)

More...KOi		K05745

Identification of Orthologs from Complete Genome Data

More...OMAi		FVTKMSI

Database of Orthologous Groups

More...OrthoDBi		1204639at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NSV4

TreeFam database of animal gene trees

More...TreeFami		TF315383

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR027654 Formin_DIAPH3
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd

The PANTHER Classification System

More...PANTHERi		PTHR45691:SF9 PTHR45691:SF9, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371 SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 7 <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
Isoform 3 (identifier: Q9NSV4-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP 
        60         70         80         90        100
EEPGEKRPKF HLNIRTLTDD MLDKFASIRI PGSKKERPPL PNLKTAFASS 
       110        120        130        140        150
DCSAAPLEMM ENFPKPLSEN ELLELFEKMM EDMNLNEDKK APLREKDFSI 
       160        170        180        190        200
KKEMVMQYIN TASKTGSLKR SRQISPQEFI HELKMGSADE RLVTCLESLR 
       210        220        230        240        250
VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK KNQHKVIQCL 
       260        270        280        290        300
KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE 
       310        320        330        340        350
ESILEEVLEA LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT 
       360        370        380        390        400
SPDDLDFRLH IRNEFMRCGL KEILPNLKCI KNDGLDIQLK VFDEHKEEDL 
       410        420        430        440        450
FELSHRLEDI RAELDEAYDV YNMVWSTVKE TRAEGYFISI LQHLLLIRND 
       460        470        480        490        500
YFIRQQYFKL IDECVSQIVL HRDGMDPDFT YRKRLDLDLT QFVDICIDQA 
       510        520        530        540        550
KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL QAELQAFKSQ 
       560        570        580        590        600
FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP 
       610        620        630        640        650
GMRMPFSGPV PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN 
       660        670        680        690        700
WLKIRPHEMT ENCFWIKVNE NKYENVDLLC KLENTFCCQQ KERREEEDIE 
       710        720        730        740        750
EKKSIKKKIK ELKFLDSKIA QNLSIFLSSF RVPYEEIRMM ILEVDETRLA 
       760        770        780        790        800
ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL CEPEQFVVVM SNVKRLRPRL 
       810        820        830        840        850
SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL ELVLLMGNYM 
       860        870        880        890        900
NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF 
       910        920        930        940        950
VDDLEPLDKA SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV 
       960        970        980        990       1000
TKMSRFVISA KEQYETLSKL HENMEKLYQS IIGYYAIDVK KVSVEDFLTD 
      1010       1020       1030       1040       1050
LNNFRTTFMQ AIKENIKKRE AEEKEKRVRI AKELAERERL ERQQKKKRLL 
      1060       1070       1080       1090       1100
EMKTEGDETG VMDNLLEALQ SGAAFRDRRK RTPMPKDVRQ SLSPMSQRPV 
      1110       1120       1130       1140       1150
LKVCNHENQK VQLTEGSRSH YNINCNSTRT PVAKELNYNL DTHTSTGRIK 
      1160       1170       1180       1190 
AAEKKEACNV ESNRKKETEL LGSFSKNESV PEVEALLARL RAL
Length:1,193
Mass (Da):136,926
Last modified:September 11, 2007 - v4
<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:iABCA4E859873F9E7
GO
Isoform 1 (identifier: Q9NSV4-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-263: Missing.
     1107-1112: ENQKVQ → GNKPYL
     1113-1193: Missing.

Show »
Length:849
Mass (Da):98,140
Checksum:i5CE99DEE93AC833C
GO
Isoform 2 (identifier: Q9NSV4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-263: Missing.
     913-956: VSVETLEKNL...DKFVTKMSRF → GLCLFKKHFM...HSVFIPNISF
     957-1193: Missing.

Show »
Length:691
Mass (Da):79,445
Checksum:iCDFF84D86D4B66DF
GO
Isoform 4 (identifier: Q9NSV4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-71: Missing.

Show »
Length:1,182
Mass (Da):135,615
Checksum:i9169ACD33B8FB00D
GO
Isoform 5 (identifier: Q9NSV4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-71: Missing.
     131-165: Missing.

Show »
Length:1,147
Mass (Da):131,487
Checksum:i4286EEB6F00A3F01
GO
Isoform 6 (identifier: Q9NSV4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-71: Missing.
     72-130: Missing.

Show »
Length:1,123
Mass (Da):128,994
Checksum:i4623CCC9C5D433C6
GO
Isoform 7 (identifier: Q9NSV4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1107-1112: ENQKVQ → GNKPYL
     1113-1193: Missing.

Show »
Length:1,112
Mass (Da):127,856
Checksum:iDCB5192396280A30
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAW73254 differs from that shown. Reason: Frameshift at position 1147.Curated

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 conflicti55E → G in BAE96352 (Ref. 3) Curated1
Sequence conflicti128K → R in BAC03793 (PubMed:14702039).Curated1
Sequence conflicti274A → V in AAH34952 (PubMed:15489334).Curated1
Sequence conflicti330L → P in BAE96351 (Ref. 3) Curated1
Sequence conflicti588P → L in BAC03793 (PubMed:14702039).Curated1
Sequence conflicti613P → L in BAE96351 (Ref. 3) Curated1
Sequence conflicti669N → K in CAE46204 (PubMed:17974005).Curated1

Natural variant

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_049097363N → S. Corresponds to variant dbSNP:rs36084898EnsemblClinVar.1
Natural variantiVAR_049098773F → L. Corresponds to variant dbSNP:rs35579086EnsemblClinVar.1
Natural variantiVAR_0490991041E → G. Corresponds to variant dbSNP:rs7491389Ensembl.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_0159581 – 263Missing in isoform 1 and isoform 2. 2 PublicationsAdd BLAST263
Alternative sequenceiVSP_02777461 – 71Missing in isoform 4, isoform 5 and isoform 6. 1 PublicationAdd BLAST11
Alternative sequenceiVSP_02777572 – 130Missing in isoform 6. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_027776131 – 165Missing in isoform 5. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_001574913 – 956VSVET…KMSRF → GLCLFKKHFMALIFSAKRLK IIPFICMYFPLSHSVFIPNI SF in isoform 2. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_001575957 – 1193Missing in isoform 2. 1 PublicationAdd BLAST237
Alternative sequenceiVSP_0277771107 – 1112ENQKVQ → GNKPYL in isoform 7 and isoform 1. 2 Publications6
Alternative sequenceiVSP_0277781113 – 1193Missing in isoform 7 and isoform 1. 2 PublicationsAdd BLAST81

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
AY750055 mRNA Translation: AAW73254.1 Frameshift.
AY818645 mRNA Translation: AAW78862.1
AB244756 mRNA Translation: BAE96350.1
AB244757 mRNA Translation: BAE96351.1
AB244758 mRNA Translation: BAE96352.1
AL137718 mRNA Translation: CAB70890.1
BX649186 mRNA Translation: CAE46204.1
AL354829 Genomic DNA No translation available.
AL356502 Genomic DNA No translation available.
AL359266 Genomic DNA No translation available.
AL390878 Genomic DNA No translation available.
BC034952 mRNA Translation: AAH34952.1
BC048963 mRNA Translation: AAH48963.1
BC068504 mRNA Translation: AAH68504.1
AK092024 mRNA Translation: BAC03793.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41898.1 [Q9NSV4-3]
CCDS58294.1 [Q9NSV4-6]
CCDS58295.1 [Q9NSV4-5]
CCDS58296.1 [Q9NSV4-4]
CCDS58297.1 [Q9NSV4-7]
CCDS73579.1 [Q9NSV4-2]
CCDS73580.1 [Q9NSV4-1]

NCBI Reference Sequences

More...RefSeqi		NP_001035982.1, NM_001042517.1 [Q9NSV4-3]
NP_001245295.1, NM_001258366.1 [Q9NSV4-4]
NP_001245296.1, NM_001258367.1 [Q9NSV4-5]
NP_001245297.1, NM_001258368.1 [Q9NSV4-6]
NP_001245298.1, NM_001258369.1 [Q9NSV4-7]
NP_001245299.1, NM_001258370.1 [Q9NSV4-2]
NP_112194.2, NM_030932.3 [Q9NSV4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000267215; ENSP00000267215; ENSG00000139734 [Q9NSV4-7]
ENST00000377908; ENSP00000367141; ENSG00000139734 [Q9NSV4-4]
ENST00000400319; ENSP00000383173; ENSG00000139734 [Q9NSV4-6]
ENST00000400320; ENSP00000383174; ENSG00000139734 [Q9NSV4-5]
ENST00000400324; ENSP00000383178; ENSG00000139734 [Q9NSV4-3]
ENST00000465066; ENSP00000478137; ENSG00000139734 [Q9NSV4-1]
ENST00000498416; ENSP00000479091; ENSG00000139734 [Q9NSV4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		81624

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:81624

UCSC genome browser

More...UCSCi		uc001vht.6 human [Q9NSV4-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY750055 mRNA Translation: AAW73254.1 Frameshift.
AY818645 mRNA Translation: AAW78862.1
AB244756 mRNA Translation: BAE96350.1
AB244757 mRNA Translation: BAE96351.1
AB244758 mRNA Translation: BAE96352.1
AL137718 mRNA Translation: CAB70890.1
BX649186 mRNA Translation: CAE46204.1
AL354829 Genomic DNA No translation available.
AL356502 Genomic DNA No translation available.
AL359266 Genomic DNA No translation available.
AL390878 Genomic DNA No translation available.
BC034952 mRNA Translation: AAH34952.1
BC048963 mRNA Translation: AAH48963.1
BC068504 mRNA Translation: AAH68504.1
AK092024 mRNA Translation: BAC03793.1
CCDSiCCDS41898.1 [Q9NSV4-3]
CCDS58294.1 [Q9NSV4-6]
CCDS58295.1 [Q9NSV4-5]
CCDS58296.1 [Q9NSV4-4]
CCDS58297.1 [Q9NSV4-7]
CCDS73579.1 [Q9NSV4-2]
CCDS73580.1 [Q9NSV4-1]
RefSeqiNP_001035982.1, NM_001042517.1 [Q9NSV4-3]
NP_001245295.1, NM_001258366.1 [Q9NSV4-4]
NP_001245296.1, NM_001258367.1 [Q9NSV4-5]
NP_001245297.1, NM_001258368.1 [Q9NSV4-6]
NP_001245298.1, NM_001258369.1 [Q9NSV4-7]
NP_001245299.1, NM_001258370.1 [Q9NSV4-2]
NP_112194.2, NM_030932.3 [Q9NSV4-1]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5UWPX-ray2.05D1179-1193[»]
SMRiQ9NSV4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123559, 36 interactors
IntActiQ9NSV4, 14 interactors
MINTiQ9NSV4
STRINGi9606.ENSP00000383178

PTM databases

iPTMnetiQ9NSV4
PhosphoSitePlusiQ9NSV4

Polymorphism and mutation databases

BioMutaiDIAPH3
DMDMi158520000

Proteomic databases

EPDiQ9NSV4
jPOSTiQ9NSV4
PaxDbiQ9NSV4
PeptideAtlasiQ9NSV4
PRIDEiQ9NSV4
ProteomicsDBi82583
82584 [Q9NSV4-1]
82585 [Q9NSV4-2]
82586 [Q9NSV4-4]
82587 [Q9NSV4-5]
82588 [Q9NSV4-6]
82589 [Q9NSV4-7]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000267215; ENSP00000267215; ENSG00000139734 [Q9NSV4-7]
ENST00000377908; ENSP00000367141; ENSG00000139734 [Q9NSV4-4]
ENST00000400319; ENSP00000383173; ENSG00000139734 [Q9NSV4-6]
ENST00000400320; ENSP00000383174; ENSG00000139734 [Q9NSV4-5]
ENST00000400324; ENSP00000383178; ENSG00000139734 [Q9NSV4-3]
ENST00000465066; ENSP00000478137; ENSG00000139734 [Q9NSV4-1]
ENST00000498416; ENSP00000479091; ENSG00000139734 [Q9NSV4-2]
GeneIDi81624
KEGGihsa:81624
UCSCiuc001vht.6 human [Q9NSV4-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		81624
DisGeNETi81624

GeneCards: human genes, protein and diseases

More...GeneCardsi		DIAPH3

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0037336
HGNCiHGNC:15480 DIAPH3
HPAiHPA032151
MalaCardsiDIAPH3
MIMi609129 phenotype
614567 gene
neXtProtiNX_Q9NSV4
OpenTargetsiENSG00000139734
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA27335

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1924 Eukaryota
ENOG410Y29H LUCA
GeneTreeiENSGT00940000157767
InParanoidiQ9NSV4
KOiK05745
OMAiFVTKMSI
OrthoDBi1204639at2759
PhylomeDBiQ9NSV4
TreeFamiTF315383

Enzyme and pathway databases

ReactomeiR-HSA-5663220 RHO GTPases Activate Formins

Miscellaneous databases

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

More...ChiTaRSi		DIAPH3 human

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

More...GenomeRNAii		81624

Protein Ontology

More...PROi		PR:Q9NSV4

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000139734 Expressed in 135 organ(s), highest expression level in testis
GenevisibleiQ9NSV4 HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR014767 DAD_dom
IPR010465 Drf_DAD
IPR015425 FH2_Formin
IPR010472 FH3_dom
IPR027654 Formin_DIAPH3
IPR014768 GBD/FH3_dom
IPR010473 GTPase-bd
PANTHERiPTHR45691:SF9 PTHR45691:SF9, 1 hit
PfamiView protein in Pfam
PF06345 Drf_DAD, 1 hit
PF06367 Drf_FH3, 1 hit
PF06371 Drf_GBD, 1 hit
PF02181 FH2, 1 hit
SMARTiView protein in SMART
SM01139 Drf_FH3, 1 hit
SM01140 Drf_GBD, 1 hit
SM00498 FH2, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS51231 DAD, 1 hit
PS51444 FH2, 1 hit
PS51232 GBD_FH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiDIAP3_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: Q9NSV4
Secondary accession number(s): A2A3B8
, A2A3B9, A2A3C0, Q18P99, Q18PA0, Q18PA1, Q2KPB6, Q3ZK23, Q5JTP8, Q5T2S7, Q5XKF6, Q6MZF0, Q6NUP0, Q86VS4, Q8NAV4
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: September 11, 2007
Last modified: May 8, 2019
This is version 180 of the entry and version 4 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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