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Q9NSV4

- DIAP3_HUMAN

UniProt

Q9NSV4 - DIAP3_HUMAN

Protein

Protein diaphanous homolog 3

Gene

DIAPH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 4 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    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. It is required for cytokinesis, stress fiber formation, and transcriptional activation of the serum response factor. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics By similarity.By similarity

    GO - Biological processi

    1. actin cytoskeleton organization Source: InterPro
    2. spermatogenesis Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein diaphanous homolog 3
    Alternative name(s):
    Diaphanous-related formin-3
    Short name:
    DRF3
    MDia2
    Gene namesi
    Name:DIAPH3
    Synonyms:DIAP3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:15480. DIAPH3.

    Subcellular locationi

    Cytoplasmcytosol 2 Publications
    Note: During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis.

    GO - Cellular componenti

    1. cytosol Source: UniProtKB-SubCell
    2. nucleus Source: Ensembl

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    Auditory neuropathy, autosomal dominant, 1 (AUNA1) [MIM:609129]: A 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.1 Publication
    Note: 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 (PubMed:20624953).1 Publication

    Keywords - Diseasei

    Deafness, Neuropathy, Non-syndromic deafness

    Organism-specific databases

    MIMi609129. phenotype.
    Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBiPA27335.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11931193Protein diaphanous homolog 3PRO_0000194897Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki139 – 139Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)2 Publications
    Modified residuei624 – 6241Phosphoserine1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    MaxQBiQ9NSV4.
    PaxDbiQ9NSV4.
    PRIDEiQ9NSV4.

    PTM databases

    PhosphoSiteiQ9NSV4.

    Expressioni

    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

    ArrayExpressiQ9NSV4.
    BgeeiQ9NSV4.
    CleanExiHS_DIAPH3.
    GenevestigatoriQ9NSV4.

    Organism-specific databases

    HPAiHPA004917.
    HPA032151.
    HPA032152.

    Interactioni

    Protein-protein interaction databases

    BioGridi123559. 14 interactions.
    IntActiQ9NSV4. 5 interactions.
    MINTiMINT-1195088.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NSV4.
    SMRiQ9NSV4. Positions 710-1030.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini114 – 476363GBD/FH3PROSITE-ProRule annotationAdd
    BLAST
    Domaini561 – 63171FH1Add
    BLAST
    Domaini636 – 1034399FH2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1057 – 108731DADPROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili497 – 55458Sequence AnalysisAdd
    BLAST
    Coiled coili1013 – 105644Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi561 – 63676Pro-richAdd
    BLAST

    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.By similarity

    Sequence similaritiesi

    Contains 1 DAD (diaphanous autoregulatory) domain.PROSITE-ProRule annotation
    Contains 1 FH2 (formin homology 2) domain.PROSITE-ProRule annotation
    Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Repeat

    Phylogenomic databases

    eggNOGiNOG149898.
    HOVERGENiHBG051357.
    InParanoidiQ9NSV4.
    KOiK05745.
    OMAiKQMGRQL.
    OrthoDBiEOG7G1V5D.
    PhylomeDBiQ9NSV4.
    TreeFamiTF315383.

    Family and domain databases

    InterProiIPR016024. ARM-type_fold.
    IPR014767. Diaphanous_autoregulatory.
    IPR010465. Drf_DAD.
    IPR015425. FH2_Formin.
    IPR010472. FH3_dom.
    IPR027654. Formin_DIAPH3.
    IPR010473. GTPase-bd.
    IPR014768. GTPase-bd/formin_homology_3.
    [Graphical view]
    PANTHERiPTHR23213:SF198. PTHR23213:SF198. 1 hit.
    PfamiPF06345. Drf_DAD. 1 hit.
    PF06367. Drf_FH3. 1 hit.
    PF06371. Drf_GBD. 1 hit.
    PF02181. FH2. 1 hit.
    [Graphical view]
    SMARTiSM00498. FH2. 1 hit.
    [Graphical view]
    SUPFAMiSSF48371. SSF48371. 1 hit.
    PROSITEiPS51231. DAD. 1 hit.
    PS51444. FH2. 1 hit.
    PS51232. GBD_FH3. 1 hit.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    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

    MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP     50
    EEPGEKRPKF HLNIRTLTDD MLDKFASIRI PGSKKERPPL PNLKTAFASS 100
    DCSAAPLEMM ENFPKPLSEN ELLELFEKMM EDMNLNEDKK APLREKDFSI 150
    KKEMVMQYIN TASKTGSLKR SRQISPQEFI HELKMGSADE RLVTCLESLR 200
    VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK KNQHKVIQCL 250
    KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE 300
    ESILEEVLEA LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT 350
    SPDDLDFRLH IRNEFMRCGL KEILPNLKCI KNDGLDIQLK VFDEHKEEDL 400
    FELSHRLEDI RAELDEAYDV YNMVWSTVKE TRAEGYFISI LQHLLLIRND 450
    YFIRQQYFKL IDECVSQIVL HRDGMDPDFT YRKRLDLDLT QFVDICIDQA 500
    KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL QAELQAFKSQ 550
    FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP 600
    GMRMPFSGPV PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN 650
    WLKIRPHEMT ENCFWIKVNE NKYENVDLLC KLENTFCCQQ KERREEEDIE 700
    EKKSIKKKIK ELKFLDSKIA QNLSIFLSSF RVPYEEIRMM ILEVDETRLA 750
    ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL CEPEQFVVVM SNVKRLRPRL 800
    SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL ELVLLMGNYM 850
    NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF 900
    VDDLEPLDKA SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV 950
    TKMSRFVISA KEQYETLSKL HENMEKLYQS IIGYYAIDVK KVSVEDFLTD 1000
    LNNFRTTFMQ AIKENIKKRE AEEKEKRVRI AKELAERERL ERQQKKKRLL 1050
    EMKTEGDETG VMDNLLEALQ SGAAFRDRRK RTPMPKDVRQ SLSPMSQRPV 1100
    LKVCNHENQK VQLTEGSRSH YNINCNSTRT PVAKELNYNL DTHTSTGRIK 1150
    AAEKKEACNV ESNRKKETEL LGSFSKNESV PEVEALLARL RAL 1193
    Length:1,193
    Mass (Da):136,926
    Last modified:September 11, 2007 - v4
    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

    Sequence cautioni

    The sequence AAW73254.1 differs from that shown. Reason: Frameshift at position 1147.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti55 – 551E → G in BAE96352. 1 PublicationCurated
    Sequence conflicti128 – 1281K → R in BAC03793. (PubMed:14702039)Curated
    Sequence conflicti274 – 2741A → V in AAH34952. (PubMed:15489334)Curated
    Sequence conflicti330 – 3301L → P in BAE96351. 1 PublicationCurated
    Sequence conflicti588 – 5881P → L in BAC03793. (PubMed:14702039)Curated
    Sequence conflicti613 – 6131P → L in BAE96351. 1 PublicationCurated
    Sequence conflicti669 – 6691N → K in CAE46204. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti363 – 3631N → S.
    Corresponds to variant rs36084898 [ dbSNP | Ensembl ].
    VAR_049097
    Natural varianti773 – 7731F → L.
    Corresponds to variant rs35579086 [ dbSNP | Ensembl ].
    VAR_049098
    Natural varianti1041 – 10411E → G.
    Corresponds to variant rs7491389 [ dbSNP | Ensembl ].
    VAR_049099

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 263263Missing in isoform 1 and isoform 2. 2 PublicationsVSP_015958Add
    BLAST
    Alternative sequencei61 – 7111Missing in isoform 4, isoform 5 and isoform 6. 1 PublicationVSP_027774Add
    BLAST
    Alternative sequencei72 – 13059Missing in isoform 6. 1 PublicationVSP_027775Add
    BLAST
    Alternative sequencei131 – 16535Missing in isoform 5. 1 PublicationVSP_027776Add
    BLAST
    Alternative sequencei913 – 95644VSVET…KMSRF → GLCLFKKHFMALIFSAKRLK IIPFICMYFPLSHSVFIPNI SF in isoform 2. 1 PublicationVSP_001574Add
    BLAST
    Alternative sequencei957 – 1193237Missing in isoform 2. 1 PublicationVSP_001575Add
    BLAST
    Alternative sequencei1107 – 11126ENQKVQ → GNKPYL in isoform 7 and isoform 1. 2 PublicationsVSP_027777
    Alternative sequencei1113 – 119381Missing in isoform 7 and isoform 1. 2 PublicationsVSP_027778Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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
    , AL356502, AL359266, AL390878 Genomic DNA. Translation: CAI39756.2.
    AL354829, AL356502, AL390878 Genomic DNA. Translation: CAI39757.2.
    AL354829
    , AL356502, AL359266, AL390878 Genomic DNA. Translation: CAM14265.1.
    AL354829
    , AL356502, AL359266, AL390878 Genomic DNA. Translation: CAM14266.1.
    AL354829
    , AL356502, AL359266, AL390878 Genomic DNA. Translation: CAM14267.1.
    AL356502
    , AL354829, AL359266, AL390878 Genomic DNA. Translation: CAI14102.2.
    AL356502, AL354829, AL390878 Genomic DNA. Translation: CAM19398.1.
    AL356502
    , AL354829, AL359266, AL390878 Genomic DNA. Translation: CAM19399.1.
    AL356502
    , AL354829, AL359266, AL390878 Genomic DNA. Translation: CAM19400.1.
    AL356502
    , AL354829, AL359266, AL390878 Genomic DNA. Translation: CAM19401.1.
    AL359266
    , AL354829, AL356502, AL390878 Genomic DNA. Translation: CAM15403.1.
    AL359266
    , AL354829, AL356502, AL390878 Genomic DNA. Translation: CAM15404.1.
    AL359266
    , AL354829, AL356502, AL390878 Genomic DNA. Translation: CAM15405.1.
    AL359266
    , AL354829, AL356502, AL390878 Genomic DNA. Translation: CAM15406.1.
    AL390878
    , AL354829, AL356502, AL359266 Genomic DNA. Translation: CAI14158.2.
    AL390878, AL354829, AL356502 Genomic DNA. Translation: CAM19738.1.
    AL390878
    , AL354829, AL356502, AL359266 Genomic DNA. Translation: CAM19739.1.
    AL390878
    , AL354829, AL356502, AL359266 Genomic DNA. Translation: CAM19740.1.
    AL390878
    , AL354829, AL356502, AL359266 Genomic DNA. Translation: CAM19741.1.
    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]
    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]
    UniGeneiHs.283127.

    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]
    GeneIDi81624.
    KEGGihsa:81624.
    UCSCiuc001vht.4. human. [Q9NSV4-3]
    uc001vhu.3. human. [Q9NSV4-1]
    uc001vhv.4. human. [Q9NSV4-2]
    uc001vhw.2. human. [Q9NSV4-4]
    uc010aed.2. human. [Q9NSV4-5]
    uc010aee.2. human. [Q9NSV4-6]
    uc031qlw.1. human. [Q9NSV4-7]

    Polymorphism databases

    DMDMi158520000.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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
    , AL356502 , AL359266 , AL390878 Genomic DNA. Translation: CAI39756.2 .
    AL354829 , AL356502 , AL390878 Genomic DNA. Translation: CAI39757.2 .
    AL354829
    , AL356502 , AL359266 , AL390878 Genomic DNA. Translation: CAM14265.1 .
    AL354829
    , AL356502 , AL359266 , AL390878 Genomic DNA. Translation: CAM14266.1 .
    AL354829
    , AL356502 , AL359266 , AL390878 Genomic DNA. Translation: CAM14267.1 .
    AL356502
    , AL354829 , AL359266 , AL390878 Genomic DNA. Translation: CAI14102.2 .
    AL356502 , AL354829 , AL390878 Genomic DNA. Translation: CAM19398.1 .
    AL356502
    , AL354829 , AL359266 , AL390878 Genomic DNA. Translation: CAM19399.1 .
    AL356502
    , AL354829 , AL359266 , AL390878 Genomic DNA. Translation: CAM19400.1 .
    AL356502
    , AL354829 , AL359266 , AL390878 Genomic DNA. Translation: CAM19401.1 .
    AL359266
    , AL354829 , AL356502 , AL390878 Genomic DNA. Translation: CAM15403.1 .
    AL359266
    , AL354829 , AL356502 , AL390878 Genomic DNA. Translation: CAM15404.1 .
    AL359266
    , AL354829 , AL356502 , AL390878 Genomic DNA. Translation: CAM15405.1 .
    AL359266
    , AL354829 , AL356502 , AL390878 Genomic DNA. Translation: CAM15406.1 .
    AL390878
    , AL354829 , AL356502 , AL359266 Genomic DNA. Translation: CAI14158.2 .
    AL390878 , AL354829 , AL356502 Genomic DNA. Translation: CAM19738.1 .
    AL390878
    , AL354829 , AL356502 , AL359266 Genomic DNA. Translation: CAM19739.1 .
    AL390878
    , AL354829 , AL356502 , AL359266 Genomic DNA. Translation: CAM19740.1 .
    AL390878
    , AL354829 , AL356502 , AL359266 Genomic DNA. Translation: CAM19741.1 .
    BC034952 mRNA. Translation: AAH34952.1 .
    BC048963 mRNA. Translation: AAH48963.1 .
    BC068504 mRNA. Translation: AAH68504.1 .
    AK092024 mRNA. Translation: BAC03793.1 .
    CCDSi CCDS41898.1. [Q9NSV4-3 ]
    CCDS58294.1. [Q9NSV4-6 ]
    CCDS58295.1. [Q9NSV4-5 ]
    CCDS58296.1. [Q9NSV4-4 ]
    CCDS58297.1. [Q9NSV4-7 ]
    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 ]
    UniGenei Hs.283127.

    3D structure databases

    ProteinModelPortali Q9NSV4.
    SMRi Q9NSV4. Positions 710-1030.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123559. 14 interactions.
    IntActi Q9NSV4. 5 interactions.
    MINTi MINT-1195088.

    PTM databases

    PhosphoSitei Q9NSV4.

    Polymorphism databases

    DMDMi 158520000.

    Proteomic databases

    MaxQBi Q9NSV4.
    PaxDbi Q9NSV4.
    PRIDEi Q9NSV4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    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 . [Q9NSV4-3 ]
    GeneIDi 81624.
    KEGGi hsa:81624.
    UCSCi uc001vht.4. human. [Q9NSV4-3 ]
    uc001vhu.3. human. [Q9NSV4-1 ]
    uc001vhv.4. human. [Q9NSV4-2 ]
    uc001vhw.2. human. [Q9NSV4-4 ]
    uc010aed.2. human. [Q9NSV4-5 ]
    uc010aee.2. human. [Q9NSV4-6 ]
    uc031qlw.1. human. [Q9NSV4-7 ]

    Organism-specific databases

    CTDi 81624.
    GeneCardsi GC13M060239.
    H-InvDB HIX0037336.
    HGNCi HGNC:15480. DIAPH3.
    HPAi HPA004917.
    HPA032151.
    HPA032152.
    MIMi 609129. phenotype.
    614567. gene.
    neXtProti NX_Q9NSV4.
    Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
    PharmGKBi PA27335.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG149898.
    HOVERGENi HBG051357.
    InParanoidi Q9NSV4.
    KOi K05745.
    OMAi KQMGRQL.
    OrthoDBi EOG7G1V5D.
    PhylomeDBi Q9NSV4.
    TreeFami TF315383.

    Miscellaneous databases

    ChiTaRSi DIAPH3. human.
    GenomeRNAii 81624.
    NextBioi 71996.
    PROi Q9NSV4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9NSV4.
    Bgeei Q9NSV4.
    CleanExi HS_DIAPH3.
    Genevestigatori Q9NSV4.

    Family and domain databases

    InterProi IPR016024. ARM-type_fold.
    IPR014767. Diaphanous_autoregulatory.
    IPR010465. Drf_DAD.
    IPR015425. FH2_Formin.
    IPR010472. FH3_dom.
    IPR027654. Formin_DIAPH3.
    IPR010473. GTPase-bd.
    IPR014768. GTPase-bd/formin_homology_3.
    [Graphical view ]
    PANTHERi PTHR23213:SF198. PTHR23213:SF198. 1 hit.
    Pfami PF06345. Drf_DAD. 1 hit.
    PF06367. Drf_FH3. 1 hit.
    PF06371. Drf_GBD. 1 hit.
    PF02181. FH2. 1 hit.
    [Graphical view ]
    SMARTi SM00498. FH2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF48371. SSF48371. 1 hit.
    PROSITEi PS51231. DAD. 1 hit.
    PS51444. FH2. 1 hit.
    PS51232. GBD_FH3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Homo sapiens diaphanous homolog 3 (DIAPH3) mRNA."
      Mao M., Ward T., Schimmack G., Linsley P.S.
      Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
    2. "Identification and analysis of DIAPH3 as an EGF-dependent lipid raft complex in LNCaP prostate cancer cells."
      Khoury J., Freeman M.R.
      Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7).
    3. "Control of mitotic spindle orientation by mDia-mediated actin fibers."
      Yasuda S., Narumiya S.
      Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4; 5 AND 6).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-669 (ISOFORM 3).
      Tissue: Testis.
    5. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Testis.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-699 (ISOFORM 3).
      Tissue: Mesangial cell.
    8. "Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
      Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
      Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-139.
      Tissue: Mammary cancer.
    9. Cited for: SUBCELLULAR LOCATION.
    10. "Ubiquitin-mediated degradation of the formin mDia2 upon completion of cell division."
      DeWard A.D., Alberts A.S.
      J. Biol. Chem. 284:20061-20069(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, UBIQUITINATION, DEVELOPMENTAL STAGE.
    11. "Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila."
      Schoen C.J., Emery S.B., Thorne M.C., Ammana H.R., Sliwerska E., Arnett J., Hortsch M., Hannan F., Burmeister M., Lesperance M.M.
      Proc. Natl. Acad. Sci. U.S.A. 107:13396-13401(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN AUNA1.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-624, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiDIAP3_HUMAN
    AccessioniPrimary (citable) accession number: Q9NSV4
    Secondary accession number(s): A2A3B8
    , A2A3B9, A2A3C0, Q18P99, Q18PA0, Q18PA1, Q2KPB6, Q3ZK23, Q5JTP8, Q5T2S7, Q5XKF6, Q6MZF0, Q6NUP0, Q86VS4, Q8NAV4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 137 of the entry and version 4 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3