UniProtKB - Q9NSV4 (DIAP3_HUMAN)
Protein diaphanous homolog 3
DIAPH3
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 similarityGO - Molecular functioni
- actin binding Source: InterPro
- cadherin binding Source: BHF-UCL
- small GTPase binding Source: InterPro
GO - Biological processi
- actin cytoskeleton organization Source: UniProtKB
- actin filament polymerization Source: UniProtKB
- cytoskeleton organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q9NSV4 |
Reactomei | R-HSA-5663220, RHO GTPases Activate Formins R-HSA-8980692, RHOA GTPase cycle R-HSA-9013026, RHOB GTPase cycle R-HSA-9013106, RHOC GTPase cycle R-HSA-9013148, CDC42 GTPase cycle R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013404, RAC2 GTPase cycle R-HSA-9013405, RHOD GTPase cycle R-HSA-9013406, RHOQ GTPase cycle R-HSA-9013408, RHOG GTPase cycle R-HSA-9013409, RHOJ GTPase cycle R-HSA-9013423, RAC3 GTPase cycle R-HSA-9035034, RHOF GTPase cycle |
SignaLinki | Q9NSV4 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein diaphanous homolog 3Alternative name(s): Diaphanous-related formin-3 Short name: DRF3 MDia2 |
Gene namesi | Name:DIAPH3 Synonyms:DIAP3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:15480, DIAPH3 |
MIMi | 614567, gene |
neXtProti | NX_Q9NSV4 |
VEuPathDBi | HostDB:ENSG00000139734 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Nucleus
- Nucleus By similarity
Note: During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis (PubMed:18755006, PubMed:19457867). Shuttles between the cytoplasm and the nucleus (By similarity).By similarity2 Publications
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Auditory neuropathy, autosomal dominant, 1 (AUNA1)1 Publication
Keywords - Diseasei
Deafness, Neuropathy, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 81624 |
MalaCardsi | DIAPH3 |
MIMi | 609129, phenotype |
OpenTargetsi | ENSG00000139734 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA27335 |
Miscellaneous databases
Pharosi | Q9NSV4, Tbio |
Genetic variation databases
BioMutai | DIAPH3 |
DMDMi | 158520000 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000194897 | 1 – 1193 | Protein diaphanous homolog 3Add BLAST | 1193 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 26 | PhosphoserineCombined sources | 1 | |
Modified residuei | 68 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 77 | PhosphoserineCombined sources | 1 | |
Modified residuei | 175 | PhosphoserineCombined sources | 1 | |
Modified residuei | 624 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1093 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1179 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9NSV4 |
jPOSTi | Q9NSV4 |
MassIVEi | Q9NSV4 |
MaxQBi | Q9NSV4 |
PaxDbi | Q9NSV4 |
PeptideAtlasi | Q9NSV4 |
PRIDEi | Q9NSV4 |
ProteomicsDBi | 82583 [Q9NSV4-3] 82584 [Q9NSV4-1] 82585 [Q9NSV4-2] 82586 [Q9NSV4-4] 82587 [Q9NSV4-5] 82588 [Q9NSV4-6] 82589 [Q9NSV4-7] |
PTM databases
GlyGeni | Q9NSV4, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NSV4 |
PhosphoSitePlusi | Q9NSV4 |
Expressioni
Developmental stagei
Gene expression databases
Bgeei | ENSG00000139734, Expressed in testis and 154 other tissues |
Genevisiblei | Q9NSV4, HS |
Organism-specific databases
HPAi | ENSG00000139734, Tissue enhanced (bone marrow, testis) |
Interactioni
GO - Molecular functioni
- actin binding Source: InterPro
- cadherin binding Source: BHF-UCL
- small GTPase binding Source: InterPro
Protein-protein interaction databases
BioGRIDi | 123559, 86 interactors |
IntActi | Q9NSV4, 27 interactors |
MINTi | Q9NSV4 |
STRINGi | 9606.ENSP00000383178 |
Miscellaneous databases
RNActi | Q9NSV4, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9NSV4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 114 – 476 | GBD/FH3PROSITE-ProRule annotationAdd BLAST | 363 | |
Domaini | 561 – 631 | FH1Add BLAST | 71 | |
Domaini | 636 – 1034 | FH2PROSITE-ProRule annotationAdd BLAST | 399 | |
Domaini | 1057 – 1087 | DADPROSITE-ProRule annotationAdd BLAST | 31 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 57 | DisorderedSequence analysisAdd BLAST | 57 | |
Regioni | 558 – 622 | DisorderedSequence analysisAdd BLAST | 65 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 497 – 554 | Sequence analysisAdd BLAST | 58 | |
Coiled coili | 1013 – 1056 | Sequence analysisAdd BLAST | 44 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 36 – 60 | Nuclear localization signalBy similarityAdd BLAST | 25 | |
Motifi | 1184 – 1193 | Nuclear export signalBy similarity | 10 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 573 – 621 | Pro residuesSequence analysisAdd BLAST | 49 |
Domaini
Sequence similaritiesi
Keywords - Domaini
Coiled coil, RepeatPhylogenomic databases
eggNOGi | KOG1924, Eukaryota |
GeneTreei | ENSGT00940000157767 |
HOGENOMi | CLU_002356_0_0_1 |
InParanoidi | Q9NSV4 |
OMAi | VTKMSIF |
PhylomeDBi | Q9NSV4 |
TreeFami | TF315383 |
Family and domain databases
Gene3Di | 1.10.20.40, 1 hit 1.20.58.2220, 1 hit 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR014767, DAD_dom IPR044933, DIA_GBD_sf IPR015425, FH2_Formin IPR042201, FH2_Formin_sf IPR010472, FH3_dom IPR027654, Formin_DIAPH3 IPR014768, GBD/FH3_dom IPR010473, GTPase-bd |
PANTHERi | PTHR45691:SF9, PTHR45691:SF9, 1 hit |
Pfami | View protein in Pfam PF06367, Drf_FH3, 1 hit PF06371, Drf_GBD, 1 hit PF02181, FH2, 1 hit |
SMARTi | View protein in SMART SM01139, Drf_FH3, 1 hit SM01140, Drf_GBD, 1 hit SM00498, FH2, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51231, DAD, 1 hit PS51444, FH2, 1 hit PS51232, GBD_FH3, 1 hit |
s (7)i Sequence
Sequence statusi: Complete.
This entry describes 7 produced by isoformsialternative splicing. AlignAdd to basketThis isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 55 | E → G in BAE96352 (Ref. 3) Curated | 1 | |
Sequence conflicti | 128 | K → R in BAC03793 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 274 | A → V in AAH34952 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 330 | L → P in BAE96351 (Ref. 3) Curated | 1 | |
Sequence conflicti | 588 | P → L in BAC03793 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 613 | P → L in BAE96351 (Ref. 3) Curated | 1 | |
Sequence conflicti | 669 | N → K in CAE46204 (PubMed:17974005).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049097 | 363 | N → S. Corresponds to variant dbSNP:rs36084898EnsemblClinVar. | 1 | |
Natural variantiVAR_049098 | 773 | F → L. Corresponds to variant dbSNP:rs35579086EnsemblClinVar. | 1 | |
Natural variantiVAR_049099 | 1041 | E → G. Corresponds to variant dbSNP:rs7491389Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_015958 | 1 – 263 | Missing in isoform 1 and isoform 2. 2 PublicationsAdd BLAST | 263 | |
Alternative sequenceiVSP_027774 | 61 – 71 | Missing in isoform 4, isoform 5 and isoform 6. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_027775 | 72 – 130 | Missing in isoform 6. 1 PublicationAdd BLAST | 59 | |
Alternative sequenceiVSP_027776 | 131 – 165 | Missing in isoform 5. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_001574 | 913 – 956 | VSVET…KMSRF → GLCLFKKHFMALIFSAKRLK IIPFICMYFPLSHSVFIPNI SF in isoform 2. 1 PublicationAdd BLAST | 44 | |
Alternative sequenceiVSP_001575 | 957 – 1193 | Missing in isoform 2. 1 PublicationAdd BLAST | 237 | |
Alternative sequenceiVSP_027777 | 1107 – 1112 | ENQKVQ → GNKPYL in isoform 7 and isoform 1. 2 Publications | 6 | |
Alternative sequenceiVSP_027778 | 1113 – 1193 | Missing in isoform 7 and isoform 1. 2 PublicationsAdd BLAST | 81 |
Sequence databases
Genome annotation databases
Ensembli | ENST00000267215; ENSP00000267215; ENSG00000139734 [Q9NSV4-7] ENST00000377908; ENSP00000367141; ENSG00000139734 [Q9NSV4-4] ENST00000400319; ENSP00000383173; ENSG00000139734 [Q9NSV4-6] ENST00000400320; ENSP00000383174; ENSG00000139734 [Q9NSV4-5] ENST00000400324; ENSP00000383178; ENSG00000139734 ENST00000465066; ENSP00000478137; ENSG00000139734 [Q9NSV4-1] ENST00000498416; ENSP00000479091; ENSG00000139734 [Q9NSV4-2] |
GeneIDi | 81624 |
KEGGi | hsa:81624 |
MANE-Selecti | ENST00000400324.9; ENSP00000383178.3; NM_001042517.2; NP_001035982.1 |
UCSCi | uc001vht.6, human [Q9NSV4-3] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5UWP | X-ray | 2.05 | D | 1179-1193 | [»] | |
6X2Y | X-ray | 2.30 | D | 1183-1193 | [»] | |
SMRi | Q9NSV4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 123559, 86 interactors |
IntActi | Q9NSV4, 27 interactors |
MINTi | Q9NSV4 |
STRINGi | 9606.ENSP00000383178 |
PTM databases
GlyGeni | Q9NSV4, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q9NSV4 |
PhosphoSitePlusi | Q9NSV4 |
Genetic variation databases
BioMutai | DIAPH3 |
DMDMi | 158520000 |
Proteomic databases
EPDi | Q9NSV4 |
jPOSTi | Q9NSV4 |
MassIVEi | Q9NSV4 |
MaxQBi | Q9NSV4 |
PaxDbi | Q9NSV4 |
PeptideAtlasi | Q9NSV4 |
PRIDEi | Q9NSV4 |
ProteomicsDBi | 82583 [Q9NSV4-3] 82584 [Q9NSV4-1] 82585 [Q9NSV4-2] 82586 [Q9NSV4-4] 82587 [Q9NSV4-5] 82588 [Q9NSV4-6] 82589 [Q9NSV4-7] |
Protocols and materials databases
Antibodypediai | 24286, 263 antibodies from 30 providers |
DNASUi | 81624 |
Genome annotation databases
Ensembli | ENST00000267215; ENSP00000267215; ENSG00000139734 [Q9NSV4-7] ENST00000377908; ENSP00000367141; ENSG00000139734 [Q9NSV4-4] ENST00000400319; ENSP00000383173; ENSG00000139734 [Q9NSV4-6] ENST00000400320; ENSP00000383174; ENSG00000139734 [Q9NSV4-5] ENST00000400324; ENSP00000383178; ENSG00000139734 ENST00000465066; ENSP00000478137; ENSG00000139734 [Q9NSV4-1] ENST00000498416; ENSP00000479091; ENSG00000139734 [Q9NSV4-2] |
GeneIDi | 81624 |
KEGGi | hsa:81624 |
MANE-Selecti | ENST00000400324.9; ENSP00000383178.3; NM_001042517.2; NP_001035982.1 |
UCSCi | uc001vht.6, human [Q9NSV4-3] |
Organism-specific databases
CTDi | 81624 |
DisGeNETi | 81624 |
GeneCardsi | DIAPH3 |
HGNCi | HGNC:15480, DIAPH3 |
HPAi | ENSG00000139734, Tissue enhanced (bone marrow, testis) |
MalaCardsi | DIAPH3 |
MIMi | 609129, phenotype 614567, gene |
neXtProti | NX_Q9NSV4 |
OpenTargetsi | ENSG00000139734 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA27335 |
VEuPathDBi | HostDB:ENSG00000139734 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1924, Eukaryota |
GeneTreei | ENSGT00940000157767 |
HOGENOMi | CLU_002356_0_0_1 |
InParanoidi | Q9NSV4 |
OMAi | VTKMSIF |
PhylomeDBi | Q9NSV4 |
TreeFami | TF315383 |
Enzyme and pathway databases
PathwayCommonsi | Q9NSV4 |
Reactomei | R-HSA-5663220, RHO GTPases Activate Formins R-HSA-8980692, RHOA GTPase cycle R-HSA-9013026, RHOB GTPase cycle R-HSA-9013106, RHOC GTPase cycle R-HSA-9013148, CDC42 GTPase cycle R-HSA-9013149, RAC1 GTPase cycle R-HSA-9013404, RAC2 GTPase cycle R-HSA-9013405, RHOD GTPase cycle R-HSA-9013406, RHOQ GTPase cycle R-HSA-9013408, RHOG GTPase cycle R-HSA-9013409, RHOJ GTPase cycle R-HSA-9013423, RAC3 GTPase cycle R-HSA-9035034, RHOF GTPase cycle |
SignaLinki | Q9NSV4 |
Miscellaneous databases
BioGRID-ORCSi | 81624, 54 hits in 1055 CRISPR screens |
ChiTaRSi | DIAPH3, human |
GenomeRNAii | 81624 |
Pharosi | Q9NSV4, Tbio |
PROi | PR:Q9NSV4 |
RNActi | Q9NSV4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000139734, Expressed in testis and 154 other tissues |
Genevisiblei | Q9NSV4, HS |
Family and domain databases
Gene3Di | 1.10.20.40, 1 hit 1.20.58.2220, 1 hit 1.25.10.10, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR014767, DAD_dom IPR044933, DIA_GBD_sf IPR015425, FH2_Formin IPR042201, FH2_Formin_sf IPR010472, FH3_dom IPR027654, Formin_DIAPH3 IPR014768, GBD/FH3_dom IPR010473, GTPase-bd |
PANTHERi | PTHR45691:SF9, PTHR45691:SF9, 1 hit |
Pfami | View protein in Pfam PF06367, Drf_FH3, 1 hit PF06371, Drf_GBD, 1 hit PF02181, FH2, 1 hit |
SMARTi | View protein in SMART SM01139, Drf_FH3, 1 hit SM01140, Drf_GBD, 1 hit SM00498, FH2, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS51231, DAD, 1 hit PS51444, FH2, 1 hit PS51232, GBD_FH3, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DIAP3_HUMAN | |
Accessioni | Q9NSV4Primary (citable) accession number: Q9NSV4 Secondary accession number(s): A2A3B8 Q8NAV4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | September 11, 2007 | |
Last modified: | February 23, 2022 | |
This is version 196 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families