Q9NSV4 (DIAP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein diaphanous homolog 3

Alternative name(s):
Diaphanous-related formin-3
Short name=DRF3
MDia2

Gene names

Name:	DIAPH3
Synonyms:	DIAP3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1193 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subcellular location	Cytoplasm › cytosol. Note: During mitosis, co-localizes with the actin-rich cleavage furrow and with the microtubule-rich central spindle during cytokinesis. Ref.9 Ref.10
Developmental stage	Increased expression in S phase and mitotic cells; levels decrease as cells enter in G0/G1 phase due to proteasomal degradation (at protein level). Ref.10
Domain	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.
Involvement in disease	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. 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 (Ref.11). Ref.11
Sequence similarities	Belongs to the formin homology family. Diaphanous subfamily. Contains 1 DAD (diaphanous autoregulatory) domain. Contains 1 FH1 (formin homology 1) domain. Contains 1 FH2 (formin homology 2) domain. Contains 1 GBD/FH3 (Rho GTPase-binding/formin homology 3) domain.
Sequence caution	The sequence AAW73254.1 differs from that shown. Reason: Frameshift at position 1147.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Neuropathy Non-syndromic deafness
Domain	Coiled coil Repeat
PTM	Isopeptide bond Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actin cytoskeleton organization Inferred from electronic annotation. Source: InterPro
Cellular_component	cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3 (identifier: Q9NSV4-3)

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.

Isoform 1 (identifier: Q9NSV4-1)

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

Isoform 2 (identifier: Q9NSV4-2)

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

Isoform 4 (identifier: Q9NSV4-4)

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

Isoform 5 (identifier: Q9NSV4-5)

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

Isoform 6 (identifier: Q9NSV4-6)

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

Isoform 7 (identifier: Q9NSV4-7)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1193	1193	Protein diaphanous homolog 3		PRO_0000194897
Regions
	Domain	114 – 476	363	GBD/FH3
	Domain	561 – 631	71	FH1
	Domain	636 – 1034	399	FH2
	Domain	1057 – 1087	31	DAD
	Coiled coil	497 – 554	58	Potential
	Coiled coil	1013 – 1056	44	Potential
	Compositional bias	561 – 636	76	Pro-rich
Amino acid modifications
	Modified residue	624	1	Phosphoserine Ref.12
	Cross-link	139		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.8
Natural variations
	Alternative sequence	1 – 263	263	Missing in isoform 1 and isoform 2.		VSP_015958
	Alternative sequence	61 – 71	11	Missing in isoform 4, isoform 5 and isoform 6.		VSP_027774
	Alternative sequence	72 – 130	59	Missing in isoform 6.		VSP_027775
	Alternative sequence	131 – 165	35	Missing in isoform 5.		VSP_027776
	Alternative sequence	913 – 956	44	VSVET…KMSRF → GLCLFKKHFMALIFSAKRLK IIPFICMYFPLSHSVFIPNI SF in isoform 2.		VSP_001574
	Alternative sequence	957 – 1193	237	Missing in isoform 2.		VSP_001575
	Alternative sequence	1107 – 1112	6	ENQKVQ → GNKPYL in isoform 7 and isoform 1.		VSP_027777
	Alternative sequence	1113 – 1193	81	Missing in isoform 7 and isoform 1.		VSP_027778
	Natural variant	363	1	N → S. Corresponds to variant rs36084898 [ dbSNP | Ensembl ].		VAR_049097
	Natural variant	773	1	F → L. Corresponds to variant rs35579086 [ dbSNP | Ensembl ].		VAR_049098
	Natural variant	1041	1	E → G. Corresponds to variant rs7491389 [ dbSNP | Ensembl ].		VAR_049099
Experimental info
	Sequence conflict	55	1	E → G in BAE96352. Ref.3
	Sequence conflict	128	1	K → R in BAC03793. Ref.7
	Sequence conflict	274	1	A → V in AAH34952. Ref.6
	Sequence conflict	330	1	L → P in BAE96351. Ref.3
	Sequence conflict	588	1	P → L in BAC03793. Ref.7
	Sequence conflict	613	1	P → L in BAE96351. Ref.3
	Sequence conflict	669	1	N → K in CAE46204. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 3 [UniParc]. Last modified September 11, 2007. Version 4. Checksum: ABCA4E859873F9E7	FASTA	1,193	136,926
	10 20 30 40 50 60 MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF 70 80 90 100 110 120 HLNIRTLTDD MLDKFASIRI PGSKKERPPL PNLKTAFASS DCSAAPLEMM ENFPKPLSEN 130 140 150 160 170 180 ELLELFEKMM EDMNLNEDKK APLREKDFSI KKEMVMQYIN TASKTGSLKR SRQISPQEFI 190 200 210 220 230 240 HELKMGSADE RLVTCLESLR VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK 250 260 270 280 290 300 KNQHKVIQCL KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE 310 320 330 340 350 360 ESILEEVLEA LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT SPDDLDFRLH 370 380 390 400 410 420 IRNEFMRCGL KEILPNLKCI KNDGLDIQLK VFDEHKEEDL FELSHRLEDI RAELDEAYDV 430 440 450 460 470 480 YNMVWSTVKE TRAEGYFISI LQHLLLIRND YFIRQQYFKL IDECVSQIVL HRDGMDPDFT 490 500 510 520 530 540 YRKRLDLDLT QFVDICIDQA KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL 550 560 570 580 590 600 QAELQAFKSQ FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP 610 620 630 640 650 660 GMRMPFSGPV PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN WLKIRPHEMT 670 680 690 700 710 720 ENCFWIKVNE NKYENVDLLC KLENTFCCQQ KERREEEDIE EKKSIKKKIK ELKFLDSKIA 730 740 750 760 770 780 QNLSIFLSSF RVPYEEIRMM ILEVDETRLA ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL 790 800 810 820 830 840 CEPEQFVVVM SNVKRLRPRL SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL 850 860 870 880 890 900 ELVLLMGNYM NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF 910 920 930 940 950 960 VDDLEPLDKA SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV TKMSRFVISA 970 980 990 1000 1010 1020 KEQYETLSKL HENMEKLYQS IIGYYAIDVK KVSVEDFLTD LNNFRTTFMQ AIKENIKKRE 1030 1040 1050 1060 1070 1080 AEEKEKRVRI AKELAERERL ERQQKKKRLL EMKTEGDETG VMDNLLEALQ SGAAFRDRRK 1090 1100 1110 1120 1130 1140 RTPMPKDVRQ SLSPMSQRPV LKVCNHENQK VQLTEGSRSH YNINCNSTRT PVAKELNYNL 1150 1160 1170 1180 1190 DTHTSTGRIK AAEKKEACNV ESNRKKETEL LGSFSKNESV PEVEALLARL RAL
	Isoform 1 [UniParc]. Checksum: 5CE99DEE93AC833C	FASTA	849	98,140
	10 20 30 40 50 60 MSEERSLSLL AKAVDPRHPN MMTDVVKLLS AVCIVGEESI LEEVLEALTS AGEEKKIDRF 70 80 90 100 110 120 FCIVEGLRHN SVQLQVACMQ LINALVTSPD DLDFRLHIRN EFMRCGLKEI LPNLKCIKND 130 140 150 160 170 180 GLDIQLKVFD EHKEEDLFEL SHRLEDIRAE LDEAYDVYNM VWSTVKETRA EGYFISILQH 190 200 210 220 230 240 LLLIRNDYFI RQQYFKLIDE CVSQIVLHRD GMDPDFTYRK RLDLDLTQFV DICIDQAKLE 250 260 270 280 290 300 EFEEKASELY KKFEKEFTDH QETQAELQKK EAKINELQAE LQAFKSQFGA LPADCNIPLP 310 320 330 340 350 360 PSKEGGTGHS ALPPPPPLPS GGGVPPPPPP PPPPPLPGMR MPFSGPVPPP PPLGFLGGQN 370 380 390 400 410 420 SPPLPILPFG LKPKKEFKPE ISMRRLNWLK IRPHEMTENC FWIKVNENKY ENVDLLCKLE 430 440 450 460 470 480 NTFCCQQKER REEEDIEEKK SIKKKIKELK FLDSKIAQNL SIFLSSFRVP YEEIRMMILE 490 500 510 520 530 540 VDETRLAESM IQNLIKHLPD QEQLNSLSQF KSEYSNLCEP EQFVVVMSNV KRLRPRLSAI 550 560 570 580 590 600 LFKLQFEEQV NNIKPDIMAV STACEEIKKS KSFSKLLELV LLMGNYMNAG SRNAQTFGFN 610 620 630 640 650 660 LSSLCKLKDT KSADQKTTLL HFLVEICEEK YPDILNFVDD LEPLDKASKV SVETLEKNLR 670 680 690 700 710 720 QMGRQLQQLE KELETFPPPE DLHDKFVTKM SRFVISAKEQ YETLSKLHEN MEKLYQSIIG 730 740 750 760 770 780 YYAIDVKKVS VEDFLTDLNN FRTTFMQAIK ENIKKREAEE KEKRVRIAKE LAERERLERQ 790 800 810 820 830 840 QKKKRLLEMK TEGDETGVMD NLLEALQSGA AFRDRRKRTP MPKDVRQSLS PMSQRPVLKV CNHGNKPYL
	Isoform 2 [UniParc]. Checksum: CDFF84D86D4B66DF	FASTA	691	79,445
	10 20 30 40 50 60 MSEERSLSLL AKAVDPRHPN MMTDVVKLLS AVCIVGEESI LEEVLEALTS AGEEKKIDRF 70 80 90 100 110 120 FCIVEGLRHN SVQLQVACMQ LINALVTSPD DLDFRLHIRN EFMRCGLKEI LPNLKCIKND 130 140 150 160 170 180 GLDIQLKVFD EHKEEDLFEL SHRLEDIRAE LDEAYDVYNM VWSTVKETRA EGYFISILQH 190 200 210 220 230 240 LLLIRNDYFI RQQYFKLIDE CVSQIVLHRD GMDPDFTYRK RLDLDLTQFV DICIDQAKLE 250 260 270 280 290 300 EFEEKASELY KKFEKEFTDH QETQAELQKK EAKINELQAE LQAFKSQFGA LPADCNIPLP 310 320 330 340 350 360 PSKEGGTGHS ALPPPPPLPS GGGVPPPPPP PPPPPLPGMR MPFSGPVPPP PPLGFLGGQN 370 380 390 400 410 420 SPPLPILPFG LKPKKEFKPE ISMRRLNWLK IRPHEMTENC FWIKVNENKY ENVDLLCKLE 430 440 450 460 470 480 NTFCCQQKER REEEDIEEKK SIKKKIKELK FLDSKIAQNL SIFLSSFRVP YEEIRMMILE 490 500 510 520 530 540 VDETRLAESM IQNLIKHLPD QEQLNSLSQF KSEYSNLCEP EQFVVVMSNV KRLRPRLSAI 550 560 570 580 590 600 LFKLQFEEQV NNIKPDIMAV STACEEIKKS KSFSKLLELV LLMGNYMNAG SRNAQTFGFN 610 620 630 640 650 660 LSSLCKLKDT KSADQKTTLL HFLVEICEEK YPDILNFVDD LEPLDKASKG LCLFKKHFMA 670 680 690 LIFSAKRLKI IPFICMYFPL SHSVFIPNIS F
	Isoform 4 [UniParc]. Checksum: 9169ACD33B8FB00D	FASTA	1,182	135,615
	10 20 30 40 50 60 MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF 70 80 90 100 110 120 LDKFASIRIP GSKKERPPLP NLKTAFASSD CSAAPLEMME NFPKPLSENE LLELFEKMME 130 140 150 160 170 180 DMNLNEDKKA PLREKDFSIK KEMVMQYINT ASKTGSLKRS RQISPQEFIH ELKMGSADER 190 200 210 220 230 240 LVTCLESLRV SLTSNPVSWV ESFGHEGLGL LLDILEKLIS GKIQEKVVKK NQHKVIQCLK 250 260 270 280 290 300 ALMNTQYGLE RIMSEERSLS LLAKAVDPRH PNMMTDVVKL LSAVCIVGEE SILEEVLEAL 310 320 330 340 350 360 TSAGEEKKID RFFCIVEGLR HNSVQLQVAC MQLINALVTS PDDLDFRLHI RNEFMRCGLK 370 380 390 400 410 420 EILPNLKCIK NDGLDIQLKV FDEHKEEDLF ELSHRLEDIR AELDEAYDVY NMVWSTVKET 430 440 450 460 470 480 RAEGYFISIL QHLLLIRNDY FIRQQYFKLI DECVSQIVLH RDGMDPDFTY RKRLDLDLTQ 490 500 510 520 530 540 FVDICIDQAK LEEFEEKASE LYKKFEKEFT DHQETQAELQ KKEAKINELQ AELQAFKSQF 550 560 570 580 590 600 GALPADCNIP LPPSKEGGTG HSALPPPPPL PSGGGVPPPP PPPPPPPLPG MRMPFSGPVP 610 620 630 640 650 660 PPPPLGFLGG QNSPPLPILP FGLKPKKEFK PEISMRRLNW LKIRPHEMTE NCFWIKVNEN 670 680 690 700 710 720 KYENVDLLCK LENTFCCQQK ERREEEDIEE KKSIKKKIKE LKFLDSKIAQ NLSIFLSSFR 730 740 750 760 770 780 VPYEEIRMMI LEVDETRLAE SMIQNLIKHL PDQEQLNSLS QFKSEYSNLC EPEQFVVVMS 790 800 810 820 830 840 NVKRLRPRLS AILFKLQFEE QVNNIKPDIM AVSTACEEIK KSKSFSKLLE LVLLMGNYMN 850 860 870 880 890 900 AGSRNAQTFG FNLSSLCKLK DTKSADQKTT LLHFLVEICE EKYPDILNFV DDLEPLDKAS 910 920 930 940 950 960 KVSVETLEKN LRQMGRQLQQ LEKELETFPP PEDLHDKFVT KMSRFVISAK EQYETLSKLH 970 980 990 1000 1010 1020 ENMEKLYQSI IGYYAIDVKK VSVEDFLTDL NNFRTTFMQA IKENIKKREA EEKEKRVRIA 1030 1040 1050 1060 1070 1080 KELAERERLE RQQKKKRLLE MKTEGDETGV MDNLLEALQS GAAFRDRRKR TPMPKDVRQS 1090 1100 1110 1120 1130 1140 LSPMSQRPVL KVCNHENQKV QLTEGSRSHY NINCNSTRTP VAKELNYNLD THTSTGRIKA 1150 1160 1170 1180 AEKKEACNVE SNRKKETELL GSFSKNESVP EVEALLARLR AL
	Isoform 5 [UniParc]. Checksum: 4286EEB6F00A3F01	FASTA	1,147	131,487
	10 20 30 40 50 60 MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF 70 80 90 100 110 120 LDKFASIRIP GSKKERPPLP NLKTAFASSD CSAAPLEMME NFPKPLSENE LLELFEKMMG 130 140 150 160 170 180 SLKRSRQISP QEFIHELKMG SADERLVTCL ESLRVSLTSN PVSWVESFGH EGLGLLLDIL 190 200 210 220 230 240 EKLISGKIQE KVVKKNQHKV IQCLKALMNT QYGLERIMSE ERSLSLLAKA VDPRHPNMMT 250 260 270 280 290 300 DVVKLLSAVC IVGEESILEE VLEALTSAGE EKKIDRFFCI VEGLRHNSVQ LQVACMQLIN 310 320 330 340 350 360 ALVTSPDDLD FRLHIRNEFM RCGLKEILPN LKCIKNDGLD IQLKVFDEHK EEDLFELSHR 370 380 390 400 410 420 LEDIRAELDE AYDVYNMVWS TVKETRAEGY FISILQHLLL IRNDYFIRQQ YFKLIDECVS 430 440 450 460 470 480 QIVLHRDGMD PDFTYRKRLD LDLTQFVDIC IDQAKLEEFE EKASELYKKF EKEFTDHQET 490 500 510 520 530 540 QAELQKKEAK INELQAELQA FKSQFGALPA DCNIPLPPSK EGGTGHSALP PPPPLPSGGG 550 560 570 580 590 600 VPPPPPPPPP PPLPGMRMPF SGPVPPPPPL GFLGGQNSPP LPILPFGLKP KKEFKPEISM 610 620 630 640 650 660 RRLNWLKIRP HEMTENCFWI KVNENKYENV DLLCKLENTF CCQQKERREE EDIEEKKSIK 670 680 690 700 710 720 KKIKELKFLD SKIAQNLSIF LSSFRVPYEE IRMMILEVDE TRLAESMIQN LIKHLPDQEQ 730 740 750 760 770 780 LNSLSQFKSE YSNLCEPEQF VVVMSNVKRL RPRLSAILFK LQFEEQVNNI KPDIMAVSTA 790 800 810 820 830 840 CEEIKKSKSF SKLLELVLLM GNYMNAGSRN AQTFGFNLSS LCKLKDTKSA DQKTTLLHFL 850 860 870 880 890 900 VEICEEKYPD ILNFVDDLEP LDKASKVSVE TLEKNLRQMG RQLQQLEKEL ETFPPPEDLH 910 920 930 940 950 960 DKFVTKMSRF VISAKEQYET LSKLHENMEK LYQSIIGYYA IDVKKVSVED FLTDLNNFRT 970 980 990 1000 1010 1020 TFMQAIKENI KKREAEEKEK RVRIAKELAE RERLERQQKK KRLLEMKTEG DETGVMDNLL 1030 1040 1050 1060 1070 1080 EALQSGAAFR DRRKRTPMPK DVRQSLSPMS QRPVLKVCNH ENQKVQLTEG SRSHYNINCN 1090 1100 1110 1120 1130 1140 STRTPVAKEL NYNLDTHTST GRIKAAEKKE ACNVESNRKK ETELLGSFSK NESVPEVEAL LARLRAL
	Isoform 6 [UniParc]. Checksum: 4623CCC9C5D433C6	FASTA	1,123	128,994
	10 20 30 40 50 60 MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF 70 80 90 100 110 120 EDMNLNEDKK APLREKDFSI KKEMVMQYIN TASKTGSLKR SRQISPQEFI HELKMGSADE 130 140 150 160 170 180 RLVTCLESLR VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK KNQHKVIQCL 190 200 210 220 230 240 KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE ESILEEVLEA 250 260 270 280 290 300 LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT SPDDLDFRLH IRNEFMRCGL 310 320 330 340 350 360 KEILPNLKCI KNDGLDIQLK VFDEHKEEDL FELSHRLEDI RAELDEAYDV YNMVWSTVKE 370 380 390 400 410 420 TRAEGYFISI LQHLLLIRND YFIRQQYFKL IDECVSQIVL HRDGMDPDFT YRKRLDLDLT 430 440 450 460 470 480 QFVDICIDQA KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL QAELQAFKSQ 490 500 510 520 530 540 FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP GMRMPFSGPV 550 560 570 580 590 600 PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN WLKIRPHEMT ENCFWIKVNE 610 620 630 640 650 660 NKYENVDLLC KLENTFCCQQ KERREEEDIE EKKSIKKKIK ELKFLDSKIA QNLSIFLSSF 670 680 690 700 710 720 RVPYEEIRMM ILEVDETRLA ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL CEPEQFVVVM 730 740 750 760 770 780 SNVKRLRPRL SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL ELVLLMGNYM 790 800 810 820 830 840 NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF VDDLEPLDKA 850 860 870 880 890 900 SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV TKMSRFVISA KEQYETLSKL 910 920 930 940 950 960 HENMEKLYQS IIGYYAIDVK KVSVEDFLTD LNNFRTTFMQ AIKENIKKRE AEEKEKRVRI 970 980 990 1000 1010 1020 AKELAERERL ERQQKKKRLL EMKTEGDETG VMDNLLEALQ SGAAFRDRRK RTPMPKDVRQ 1030 1040 1050 1060 1070 1080 SLSPMSQRPV LKVCNHENQK VQLTEGSRSH YNINCNSTRT PVAKELNYNL DTHTSTGRIK 1090 1100 1110 1120 AAEKKEACNV ESNRKKETEL LGSFSKNESV PEVEALLARL RAL
	Isoform 7 [UniParc]. Checksum: DCB5192396280A30	FASTA	1,112	127,856
	10 20 30 40 50 60 MERHQPRLHH PAQGSAAGTP YPSSASLRGC RESKMPRRKG PQHPPPPSGP EEPGEKRPKF 70 80 90 100 110 120 HLNIRTLTDD MLDKFASIRI PGSKKERPPL PNLKTAFASS DCSAAPLEMM ENFPKPLSEN 130 140 150 160 170 180 ELLELFEKMM EDMNLNEDKK APLREKDFSI KKEMVMQYIN TASKTGSLKR SRQISPQEFI 190 200 210 220 230 240 HELKMGSADE RLVTCLESLR VSLTSNPVSW VESFGHEGLG LLLDILEKLI SGKIQEKVVK 250 260 270 280 290 300 KNQHKVIQCL KALMNTQYGL ERIMSEERSL SLLAKAVDPR HPNMMTDVVK LLSAVCIVGE 310 320 330 340 350 360 ESILEEVLEA LTSAGEEKKI DRFFCIVEGL RHNSVQLQVA CMQLINALVT SPDDLDFRLH 370 380 390 400 410 420 IRNEFMRCGL KEILPNLKCI KNDGLDIQLK VFDEHKEEDL FELSHRLEDI RAELDEAYDV 430 440 450 460 470 480 YNMVWSTVKE TRAEGYFISI LQHLLLIRND YFIRQQYFKL IDECVSQIVL HRDGMDPDFT 490 500 510 520 530 540 YRKRLDLDLT QFVDICIDQA KLEEFEEKAS ELYKKFEKEF TDHQETQAEL QKKEAKINEL 550 560 570 580 590 600 QAELQAFKSQ FGALPADCNI PLPPSKEGGT GHSALPPPPP LPSGGGVPPP PPPPPPPPLP 610 620 630 640 650 660 GMRMPFSGPV PPPPPLGFLG GQNSPPLPIL PFGLKPKKEF KPEISMRRLN WLKIRPHEMT 670 680 690 700 710 720 ENCFWIKVNE NKYENVDLLC KLENTFCCQQ KERREEEDIE EKKSIKKKIK ELKFLDSKIA 730 740 750 760 770 780 QNLSIFLSSF RVPYEEIRMM ILEVDETRLA ESMIQNLIKH LPDQEQLNSL SQFKSEYSNL 790 800 810 820 830 840 CEPEQFVVVM SNVKRLRPRL SAILFKLQFE EQVNNIKPDI MAVSTACEEI KKSKSFSKLL 850 860 870 880 890 900 ELVLLMGNYM NAGSRNAQTF GFNLSSLCKL KDTKSADQKT TLLHFLVEIC EEKYPDILNF 910 920 930 940 950 960 VDDLEPLDKA SKVSVETLEK NLRQMGRQLQ QLEKELETFP PPEDLHDKFV TKMSRFVISA 970 980 990 1000 1010 1020 KEQYETLSKL HENMEKLYQS IIGYYAIDVK KVSVEDFLTD LNNFRTTFMQ AIKENIKKRE 1030 1040 1050 1060 1070 1080 AEEKEKRVRI AKELAERERL ERQQKKKRLL EMKTEGDETG VMDNLLEALQ SGAAFRDRRK 1090 1100 1110 RTPMPKDVRQ SLSPMSQRPV LKVCNHGNKP YL

References

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[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]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Mammary cancer.
[9]	"Filopodia formation induced by active mDia2/Drf3." Block J., Stradal T.E., Hanisch J., Geffers R., Kostler S.A., Urban E., Small J.V., Rottner K., Faix J. J. Microsc. 231:506-517(2008) [PubMed] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[13]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00655865. IPI00747250. IPI00789805. IPI00791213. IPI00791794. IPI00794752. IPI00855715.
RefSeq	NP_001035982.1. NM_001042517.1. NP_001245295.1. NM_001258366.1. NP_001245296.1. NM_001258367.1. NP_001245297.1. NM_001258368.1. NP_001245298.1. NM_001258369.1. NP_001245299.1. NM_001258370.1. NP_112194.2. NM_030932.3.
UniGene	Hs.283127.
3D structure databases
ProteinModelPortal	Q9NSV4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9NSV4. 1 interaction.
MINT	MINT-1195088.
PTM databases
PhosphoSite	Q9NSV4.
Polymorphism databases
DMDM	158520000.
Proteomic databases
PaxDb	Q9NSV4.
PRIDE	Q9NSV4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000267215; ENSP00000267215; ENSG00000139734. ENST00000377908; ENSP00000367141; ENSG00000139734. ENST00000400319; ENSP00000383173; ENSG00000139734. ENST00000400320; ENSP00000383174; ENSG00000139734. ENST00000400324; ENSP00000383178; ENSG00000139734.
GeneID	81624.
KEGG	hsa:81624.
UCSC	uc001vht.3. human. uc001vhu.3. human. uc001vhv.3. human.
Organism-specific databases
CTD	81624.
GeneCards	GC13M060239.
H-InvDB	HIX0037336.
HGNC	HGNC:15480. DIAPH3.
HPA	HPA032152.
MIM	609129. phenotype. 614567. gene.
neXtProt	NX_Q9NSV4.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKB	PA27335.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG149898.
HOVERGEN	HBG051357.
InParanoid	Q9NSV4.
KO	K05745.
OMA	KQMGRQL.
OrthoDB	EOG461437.
Gene expression databases
ArrayExpress	Q9NSV4.
Bgee	Q9NSV4.
CleanEx	HS_DIAPH3.
Genevestigator	Q9NSV4.
GermOnline	ENSG00000139734. Homo sapiens.
Family and domain databases
InterPro	IPR003104. Actin-bd_FH2/DRF_autoreg. IPR016024. ARM-type_fold. IPR014767. Diaphanous_autoregulatory. IPR010465. Drf_DAD. IPR010472. Drf_FH3. IPR010473. Drf_GTPase-bd. IPR015425. FH2_actin-bd. IPR014768. GTPase-bd/formin_homology_3. [Graphical view]
Pfam	PF06345. Drf_DAD. 1 hit. PF06367. Drf_FH3. 1 hit. PF06371. Drf_GBD. 1 hit. PF02181. FH2. 1 hit. [Graphical view]
SMART	SM00498. FH2. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit. SSF101447. FH2_actin_bd. 1 hit.
PROSITE	PS51231. DAD. 1 hit. PS51444. FH2. 1 hit. PS51232. GBD_FH3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DIAPH3. human.
GenomeRNAi	81624.
NextBio	71996.
SOURCE	Search...

Entry information

Entry name

DIAP3_HUMAN

Accession

Primary (citable) accession number: Q9NSV4
Secondary accession number(s): A2A3B8 , A2A3B9, A2A3C0, Q18P99, Q18PA0, Q18PA1, Q2KPB6, Q3ZK23, Q5JTP8, Q5T2S7, Q5XKF6, Q6MZF0, Q6NUP0, Q86VS4, Q8NAV4

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	September 11, 2007
Last modified:	May 1, 2013
This is version 125 of the entry and version 4 of the sequence. [Complete history]

Entry status

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.