Protein detail

DIAP1

Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)

Entry name DIAP1	UniProt ID O60610	EVMP confidence score 0.50
Supporting publications (n) 2	Transmembrane count	Protein classification Cancer-related genesDisease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteins

EVMP confidence score

Annotation confidence score; open for threshold definitions.

Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40

Basic Information11

Protein Names

Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)

Protein Class (5)

Cancer-related genesDisease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteins

Protein Function (5)

Human disease related genes:Cardiovascular diseases:Hematologic diseases
Predicted intracellular proteins
Cancer-related genes:Mutated cancer genes
Disease related genes
Human disease related genes:Nervous system diseases:Ear disease

Ensembl

ENSG00000131504

Entrez Gene Symbol

DIAPH1

Gene Synonym (4)

DFNA1hDIA1LFHL1mDia1

Gene Description

Diaphanous related formin 1

Chromosome

Position

141515016-141619055

Supporting publications (n)

EVMP confidence score

0.50

Fluorescence & Localization3

Tissue Specificbone marrowCell SpecificcDCSingle-Nuclei Brain SpecificCGE interneuron

Function & Pathway7

Protein Function (5)

Human disease related genes:Cardiovascular diseases:Hematologic diseases
Predicted intracellular proteins
Cancer-related genes:Mutated cancer genes
Disease related genes
Human disease related genes:Nervous system diseases:Ear disease

Cellular Component (10)

Molecular Function (6)

Biological Process (3)

KEGG (5)

Reactome (16)

Page 1 of 2

Mediation Categories (4)

Fusion and delivery mediationImmune mediationMetabolism mediationReceptor-signaling mediation

Relations & Evidence17

Enzyme-Mediated Modification (1)

1 record.

Substrate Gene Symbol	Enzyme Gene Symbol	Enzyme UniProt ID	Residue Type	Residue Offset	Modification	Database	References
DIAPH1	CDK1	P06493	T	768	phosphorylation	PhosphoSite_MIMPMIMPProtMapperPhosphoSitePhosphoSite_ProtMapper

Ligand-Receptor Signaling (7)

7 records.

Category	Parent	Database	Transmitter	Receiver	Secreted	Plasma Membrane (Transmembrane)	Plasma Membrane (Peripheral)
intracellular	intracellular	LOCATE	No	No	No	No	No
intracellular	intracellular	ComPPI	No	No	No	No	No
intracellular	intracellular	GO_Intercell	No	No	No	No	No
intracellular	intracellular	UniProt_location	No	No	No	No	No
intracellular	intracellular	OmniPath	No	No	No	No	No
plasma_membrane	plasma_membrane	UniProt_location	No	No	No	No	No
plasma_membrane	plasma_membrane	OmniPath	No	No	No	No	No

Regulatory Interaction Network (4)

4 records.

Source Protein Symbol	Source UniProt ID	Target Protein Symbol	Target UniProt ID	Is Directed	Is Stimulation	Is Inhibition	Database	References
RHOA	P61586	DIAP1	O60610	Yes	Yes	No	WangSIGNORHPRDCui2007HINTIntActSPIKE_LCLit-BM-17SPIKE	SPIKE:16109481 IntAct:18218625 SPIKE:15864301 HINT:12773565 SPIKE_LC:16109481 HPRD:15864301 SIGNOR:22820501 HINT:18218625 SPIKE_LC:15864301 Lit-BM-17:12773565 HPRD:16109481
CDK1	P06493	DIAP1	O60610	Yes	No	Yes	PhosphoSite_MIMPMIMPPhosphoSite_norefSIGNORiPTMnetProtMapperPhosphoSite_ProtMapper	SIGNOR:30816115
CHK1	O14757	DIAP1	O60610	Yes	No	Yes	SIGNOR	SIGNOR:28697335
DIAP1	O60610	CADH4	P55283	Yes	Yes	No	SIGNOR	SIGNOR:22820501

Protein Complex Composition (4)

4 records.

Component Gene Symbols	Component UniProt ID	Stoichiometry	Database	Database IDs
DIAPH1 SOWAHC UBA6	A0AVT1 O60610 Q53LP3	0:0:0	hu.MAP
DIAPH1	O60610	2	PDB	PDB:8fg1
DCAF7 DIAPH1 SOWAHC	O60610 P61962 Q53LP3	0:0:0	hu.MAP2
DIAPH1 SOWAHC	O60610 Q53LP3	0:0	hu.MAPhu.MAP2

Isolation & Detection Technology (1)

1 record.

EV Isolation Method	Detection Method	Number of References	References
Differential Ultracentrifugation	Mass spectrometry	1	31805958

Sequence, Structure & Domains15

Sequences

Length

1,272

Mass

141,347

Sequence

MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS

Alternative Products

Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O60610-1; Sequence=Displayed; Name=2; IsoId=O60610-2; Sequence=VSP_035870, VSP_035871, VSP_035872; Name=3; IsoId=O60610-3; Sequence=VSP_035870

Alternative Sequence

40..48; Missing (in isoform 2 and isoform 3); 621..632; Missing (in isoform 2); 826..828; Missing (in isoform 2)

3D Structural Models

Turn

153..155; 272..274

Helix

145..152; 158..174; 177..200; 203..205; 210..224; 228..235; 240..246; 253..267; 275..289; 296..299; 308..322; 328..340; 343..350; 356..377; 1198..1207; 1210..1212

3D Structure

NMR spectroscopy (1)

Domain & Motif Annotations

Compositional Bias

1..12; Gly residues; 44..65; Basic and acidic residues; 67..84; Polar residues; 574..589; Pro residues; 596..622; Pro residues; 640..658; Pro residues; 659..674; Low complexity; 675..753; Pro residues

Coiled Coil

468..572; 1039..1196

Domain (CC)

The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain (By similarity). This autoinhibition is released upon competitive binding of an activated GTPase (By similarity). The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity).

Domain (FT)

84..449; GBD/FH3; 583..764; FH1; 769..1171; FH2; 1194..1222; DAD

Region

1..84; Disordered; 573..755; Disordered

Protein Families (2)

Formin homology family
Diaphanous subfamily

Sequence Similarities

Belongs to the formin homology family. Diaphanous subfamily.

Clinical Relevance5

Disease Involvement (5)

Cancer-related genesDeafnessDisease variantEpilepsyNon-syndromic deafness

Antibody (2)

HPA004916 HPA076913

Interaction Protein (4)

ENSG00000067560ENSG00000155366ENSG00000173156ENSG00000198142

Interaction Count

Interaction Dataset (2)

intact_biogridbiogrid_opencell

Supporting Publications2

PMID	Title	Abstract
31753726	Serum extracellular vesicles contain SPARC and LRG1 as biomarkers of colon cancer and differ by tumour primary location.	No abstract available
36028467	Plasma exosomal DOK3 reflects immunological states in lung tumor and predicts prognosis of gefitinib treatment.	No abstract available