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0DIAP1_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
NameDIAPH1
DescriptionDiaphanous protein homolog 1 (diaphanous-related formin 1) (drf1).
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
GO0005102 receptor binding (NAS)
0007605 perception of sound (TAS)

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schematic display of those terms with internal associations, click the node and browse the corresponding GO term
Domain Architecture (Details)
InterPro domains unassigned to SynO:
Formin homology (FH) proteins play a crucial role in the reorganization of the actin cytoskeleton.hich mediates various functions of the cell cortex including motility.dhesion.nd cytokinesis . Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins.lthough some formins have been assigned functions within the nucleus. Formins are characterised by the presence of three FH domains (FH1.H2 and FH3).lthough members of the formin family do not necessarily contain all three domains . The proline-rich FH1 domain mediates interactions with a variety of proteins.ncluding the actin-binding protein profilin.H3 (Src homology 3) domain proteins.nd WW domain proteins. The FH2 domain is required for the self-association of formin proteins through the ability of FH2 domains to directly bind each other .nd may also act to inhibit actin polymerisation . The FH3 domain () is less well conserved and may be important for determining intracellular localisation of formin family proteins. In addition.ome formins can contain a GTPase-binding domain (GBD) () required for binding to Rho small GTPases.nd a C-terminal conserved Dia-autoregulatory domain (DAD).This entry represents the FH2 domain.hich was shown by X-ray crystallography to have an elongated.rescent shape containing three helical subdomains .
  IPR003104:Actin-binding FH2
Diaphanous-related formins (Drfs) are a family of formin homology (FH) proteins that act as effectors of Rho small GTPases during growth factor-induced cytoskeletal remodelling.tress fibre formation.nd cell division . Drf proteins are characterised by a variety of shared domains: an N-terminal GTPase-binding domain (GBD).ormin-homology domains FH1.H2 () and FH3 ().nd a C-terminal conserved Dia-autoregulatory domain (DAD) that binds the GBD.This entry represents the GBD.hich is a bifunctional autoinhibitory domain that interacts with and is regulated by activated Rho family members. Mammalian Drf3 contains a CRIB-like motif within its GBD for binding to Cdc42.hich is required for Cdc42 to activate and guide Drf3 towards the cell cortex where it remodels the actin skeleton .
  IPR010473:Diaphanous GTPase-binding
Formin homology (FH) proteins play a crucial role in the reorganization of the actin cytoskeleton.hich mediates various functions of the cell cortex including motility.dhesion.nd cytokinesis . Formins are multidomain proteins that interact with diverse signalling molecules and cytoskeletal proteins.lthough some formins have been assigned functions within the nucleus. Formins are characterised by the presence of three FH domains (FH1.H2 and FH3).lthough members of the formin family do not necessarily contain all three domains . The proline-rich FH1 domain mediates interactions with a variety of proteins.ncluding the actin-binding protein profilin.H3 (Src homology 3) domain proteins.nd WW domain proteins. The FH2 domain () is required to inhibit actin polymerisation. The FH3 domain is less well conserved and is required for directing formins to the correct intracellular location.uch the mitotic spindle .r the projection tip during conjugation . In addition.ome formins can contain a GTPase-binding domain (GBD) () required for binding to Rho small GTPases.nd a C-terminal conserved Dia-autoregulatory domain (DAD).This entry represents the FH3 domain.
  IPR010472:Diaphanous FH3
This region is found in some of the Diaphanous related formins (Drfs) . It consists of low complexity repeats of around 12 residues.
  IPR009408:Formin Homology 1
This domain is found in Diaphanous-related formins (Drfs). It binds the N-terminal GTPase-binding domain; this link is broken when GTP-bound Rho binds to the GBD and activates the protein. The addition of diaphanous activating domains (DAD) to mammalian cells induces actin filament formation.tabilises microtubules.nd activates serum-response mediated transcription .
  IPR010465:DRF autoregulatory
IPR003104:FH2 
Evalue:-188.119186407719 
Location:748-1190IPR010473:Drf_GBD 
Evalue:-78.4318008422852 
Location:75-260IPR010472:Drf_FH3 
Evalue:-66.3565444946289 
Location:265-457IPR009408:Drf_FH1 
Evalue:-48.5686378479004 
Location:574-743
SequencesProtein: DIAP1_HUMAN (1248 aa)
mRNA: NM_005219
Local Annotation
Synapse Ontology
microtubules of the presynaptic compartment function as the tracks for the intense traffic of organelles from cell body to axon terminals and vice versa. It is generally excluded from the presynaptic vesicle cluster.Microtubules do not directly regulate synapse morphology or function
sdb:0087 microtubules  (Evidence:keywords)
KO assignmentK05740
  Level 3 annotation:
    diaphanous 1
  Level 2 annotation:
    Regulation of actin cytoskeleton
    Focal adhesion
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 663 residues, 140874772-140876759Exon2: 31 residues, 140883893-140883980Exon3: 47 residues, 140885788-140885924Exon4: 57 residues, 140886047-140886212Exon5: 43 residues, 140887323-140887448Exon6: 45 residues, 140888203-140888333Exon7: 82 residues, 140888452-140888692Exon8: 36 residues, 140888922-140889024Exon9: 33 residues, 140889353-140889448Exon10: 35 residues, 140894085-140894184Exon11: 40 residues, 140931676-140931791Exon12: 155 residues, 140933242-140933702Exon13: 75 residues, 140933738-140933959Exon14: 62 residues, 140934717-140934897Exon15: 23 residues, 140935980-140936045Exon16: 40 residues, 140936506-140936622Exon17: 41 residues, 140937225-140937342Exon18: 41 residues, 140937975-140938094Exon19: 39 residues, 140938265-140938376Exon20: 38 residues, 140938838-140938947Exon21: 48 residues, 140940494-140940634Exon22: 23 residues, 140942062-140942126Exon23: 31 residues, 140942956-140943043Exon24: 45 residues, 140943235-140943366Exon25: 36 residues, 140943874-140943976Exon26: 54 residues, 140946792-140946948Exon27: 49 residues, 140978548-140978691Exon28: 2 residues, -Jump to DIAP1_HUMAN  
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Loci Cluster (Details)Loci: 3481 140051201-140059073 ~-8K 29557(HARSL)(+)Loci: 3482 140146059-140372113 ~-226K 29559(PCDHA1)(+)Loci: 3483 140411162-140413696 ~-3K 29584(PCDHB1)(+)Loci: 3484 140454420-140457146 ~-3K 29585(PCDHB2)(+)Loci: 3485 140460417-140463589 ~-3K 29586(PCDHB3)(+)Loci: 3486 140481764-140485385 ~-4K 29587(PCDHB4)(+)Loci: 3487 140494983-140497887 ~-3K 29588(PCDHB5)(+)Loci: 3488 140510022-140513050 ~-3K 29589(PCDHB6)(+)Loci: 3489 140532426-140536140 ~-4K 29592(PCDHB7)(+)Loci: 3490 140541163-140545979 ~-5K 29593(PCDHB16)(+)Loci: 3491 140552135-140555397 ~-3K 29594(PCDHB10)(+)Loci: 3492 140559531-140562801 ~-3K 29596(PCDHB11)(+)Loci: 3493 140568474-140571880 ~-3K 29597(PCDHB12)(+)Loci: 3494 140573692-140577177 ~-3K 29598(PCDHB13)(+)Loci: 3495 140583261-140586042 ~-3K 29599(PCDHB14)(+)Loci: 3496 140605330-140607983 ~-3K 29601(PCDHB15)(+)Loci: 4735 140662380-140663796 ~-1K 29602(SLC25A2)(-)Loci: 3497 140690435-140872730 ~-182K 29604(PCDHGA1)(+)Loci: 4736 140874772-140978691 ~-104K 29642(DIAPH1)(-)Loci: 4737 141013153-141041984 ~-29K 29650(CENTD3)(-)Loci: 4734 140033674-140051155 ~-17K 29556(HARS)(-)Link out to UCSC