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Q9NSV4

- DIAP3_HUMAN

UniProt

Q9NSV4 - DIAP3_HUMAN

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Protein

Protein diaphanous homolog 3

Gene

DIAPH3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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
Complete GO annotation...

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. cytoplasm Source: UniProtKB-KW
  2. nucleus Source: Ensembl
Complete GO annotation...

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 non-syndromic 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)1 Publication
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

BgeeiQ9NSV4.
CleanExiHS_DIAPH3.
GenevestigatoriQ9NSV4.

Organism-specific databases

HPAiHPA004917.
HPA032151.
HPA032152.

Interactioni

Protein-protein interaction databases

BioGridi123559. 20 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.
GeneTreeiENSGT00760000118986.
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

        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
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. Curated

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:
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
, 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]
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]
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]
ENST00000465066; ENSP00000478137; ENSG00000139734. [Q9NSV4-1]
ENST00000498416; ENSP00000479091; ENSG00000139734. [Q9NSV4-2]
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:
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
, 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 ]
CCDS73579.1. [Q9NSV4-2 ]
CCDS73580.1. [Q9NSV4-1 ]
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. 20 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 ]
ENST00000465066 ; ENSP00000478137 ; ENSG00000139734 . [Q9NSV4-1 ]
ENST00000498416 ; ENSP00000479091 ; ENSG00000139734 . [Q9NSV4-2 ]
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 non-syndromic sensorineural deafness type DFNA.
PharmGKBi PA27335.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149898.
GeneTreei ENSGT00760000118986.
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

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

« Hide 'large scale' publications
  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 29, 2014
This is version 138 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