O08808

EV
Gene name
Diaph1 (Diap1)
Protein name
Protein diaphanous homolog 1
Names
Diaphanous-related formin-1, DRF1, p140mDIA, mDIA1
Species
Mus musculus (Mouse)
KEGG Pathway
mmu:13367
EC number
Protein Class
PROTEIN DIAPHANOUS (PTHR45691)

Descriptions

Protein diaphanous homolog 1 (Diaph1, mDia1) is a Rho effector protein involved in the regulation of the actin cytoskeleton and plays a crucial role in cell migration, adhesion, and morphogenesis. Binding of the diaphanous autoregulatory domain (DAD) segment to the diaphanous inhibitory domain (DID) domain inhibits the actin assembly activity of Diaph1. Rho GTPase binding to the N-terminal GTPase-binding domain induces a conformational change in Diaph1 to release its autoinhibited state.

Autoinhibitory domains (AIDs)

1177-1205 (Diaphanous autoregulatory, DAD domain) EV

Target domain

131-377 (Diaphanous inhibitory, DID domain)

Relief mechanism

Partner binding

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

11 structures for O08808

Entry ID Method Resolution Chain Position Source
1V9D X-ray 260 A A/B/C/D 826-1163 PDB
1Z2C X-ray 300 A B/D 69-451 PDB
2BAP X-ray 330 A PDB
2BNX X-ray 240 A A/B 131-516 PDB
2F31 X-ray 210 A PDB
2V8F X-ray 110 A C 635-655 PDB
3EG5 X-ray 270 A B/D 69-451 PDB
3O4X X-ray 320 A PDB
3OBV X-ray 275 A PDB
4UWX X-ray 165 A A/B 135-369 PDB
AF-O08808-F1 Predicted AlphaFoldDB

10 variants for O08808

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1132489998 93 D>Y No Ensembl
rs1133959615 94 M>I No Ensembl
rs235054169 602 S>P No Ensembl
rs217471489 604 P>S No Ensembl
rs252727994 631 G>V No Ensembl
rs580167898 645 A>T No Ensembl
rs586033558 646 S>A No Ensembl
rs238272030 792 N>D No Ensembl
rs31757019 955 N>S No Ensembl
rs212584221 1013 D>H No Ensembl

No associated diseases with O08808

3 regional properties for O08808

Type Name Position InterPro Accession
domain Cation-transporting P-type ATPase, N-terminal 17 - 89 IPR004014
ptm P-type ATPase, phosphorylation site 333 - 339 IPR018303
domain P-type ATPase, haloacid dehalogenase domain 313 - 641 IPR044492

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane
  • Cell projection, ruffle membrane
  • Cytoplasm, cytoskeleton
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, spindle
  • Cytoplasm
  • Nucleus
  • Membrane ruffles, especially at the tip of ruffles, of motile cells
PANTHER Family PTHR45691 PROTEIN DIAPHANOUS
PANTHER Subfamily PTHR45691:SF4 PROTEIN DIAPHANOUS HOMOLOG 1
PANTHER Protein Class cytoskeletal protein
PANTHER Pathway Category Cytoskeletal regulation by Rho GTPase
mDia

7 GO annotations of cellular component

Name Definition
brush border The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
microtubule organizing center An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
mitotic spindle A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
ruffle membrane The portion of the plasma membrane surrounding a ruffle.

5 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
identical protein binding Binding to an identical protein or proteins.
profilin binding Binding to profilin, an actin-binding protein that forms a complex with G-actin and prevents it from polymerizing to form F-actin.
small GTPase binding Binding to a small monomeric GTPase.
transmembrane transporter binding Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

13 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin filament polymerization Assembly of actin filaments by the addition of actin monomers to a filament.
brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cellular response to histamine Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a histamine stimulus. Histamine, the biogenic amine 2-(1H-imidazol-4-yl)ethanamine, is involved in local immune responses as well as regulating physiological function in the gut and acting as a neurotransmitter.
cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
neuron projection development The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
positive regulation of cell migration Any process that activates or increases the frequency, rate or extent of cell migration.
protein localization to microtubule A process in which a protein is transported to, or maintained at, a microtubule.
regulation of cell shape Any process that modulates the surface configuration of a cell.
regulation of cytoskeleton organization Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures.
regulation of microtubule-based process Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton.
regulation of release of sequestered calcium ion into cytosol Any process that modulates the frequency, rate or extent of the release into the cytosolic compartment of calcium ions sequestered in the endoplasmic reticulum or mitochondria.
sensory perception of sound The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

8 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P48608 dia Protein diaphanous Drosophila melanogaster (Fruit fly) EV
O60879 DIAPH2 Protein diaphanous homolog 2 Homo sapiens (Human) SS
Q9NSV4 DIAPH3 Protein diaphanous homolog 3 Homo sapiens (Human) SS
O60610 DIAPH1 Protein diaphanous homolog 1 Homo sapiens (Human) SS
O70566 Diaph2 Protein diaphanous homolog 2 Mus musculus (Mouse) SS
Q9Z207 Diaph3 Protein diaphanous homolog 3 Mus musculus (Mouse) SS
F1LVW7 Diaph3 Protein diaphanous homolog 3 Rattus norvegicus (Rat) SS
F1M775 Diaph1 Protein diaphanous homolog 1 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MEPSGGGLGP GRGTRDKKKG RSPDELPATG GDGGKHKKFL ERFTSMRIKK EKEKPNSAHR
70 80 90 100 110 120
NSSASYGDDP TAQSLQDISD EQVLVLFEQM LVDMNLNEEK QQPLREKDIV IKREMVSQYL
130 140 150 160 170 180
HTSKAGMNQK ESSRSAMMYI QELRSGLRDM HLLSCLESLR VSLNNNPVSW VQTFGAEGLA
190 200 210 220 230 240
SLLDILKRLH DEKEETSGNY DSRNQHEIIR CLKAFMNNKF GIKTMLETEE GILLLVRAMD
250 260 270 280 290 300
PAVPNMMIDA AKLLSALCIL PQPEDMNERV LEAMTERAEM DEVERFQPLL DGLKSGTSIA
310 320 330 340 350 360
LKVGCLQLIN ALITPAEELD FRVHIRSELM RLGLHQVLQE LREIENEDMK VQLCVFDEQG
370 380 390 400 410 420
DEDFFDLKGR LDDIRMEMDD FGEVFQIILN TVKDSKAEPH FLSILQHLLL VRNDYEARPQ
430 440 450 460 470 480
YYKLIEECVS QIVLHKNGTD PDFKCRHLQI DIERLVDQMI DKTKVEKSEA KATELEKKLD
490 500 510 520 530 540
SELTARHELQ VEMKKMENDF EQKLQDLQGE KDALDSEKQQ ITAQKQDLEA EVSKLTGEVA
550 560 570 580 590 600
KLSKELEDAK NEMASLSAVV VAPSVSSSAA VPPAPPLPGD SGTVIPPPPP PPPLPGGVVP
610 620 630 640 650 660
PSPPLPPGTC IPPPPPLPGG ACIPPPPQLP GSAAIPPPPP LPGVASIPPP PPLPGATAIP
670 680 690 700 710 720
PPPPLPGATA IPPPPPLPGG TGIPPPPPPL PGSVGVPPPP PLPGGPGLPP PPPPFPGAPG
730 740 750 760 770 780
IPPPPPGMGV PPPPPFGFGV PAAPVLPFGL TPKKVYKPEV QLRRPNWSKF VAEDLSQDCF
790 800 810 820 830 840
WTKVKEDRFE NNELFAKLTL AFSAQTKTSK AKKDQEGGEE KKSVQKKKVK ELKVLDSKTA
850 860 870 880 890 900
QNLSIFLGSF RMPYQEIKNV ILEVNEAVLT ESMIQNLIKQ MPEPEQLKML SELKEEYDDL
910 920 930 940 950 960
AESEQFGVVM GTVPRLRPRL NAILFKLQFS EQVENIKPEI VSVTAACEEL RKSENFSSLL
970 980 990 1000 1010 1020
ELTLLVGNYM NAGSRNAGAF GFNISFLCKL RDTKSADQKM TLLHFLAELC ENDHPEVLKF
1030 1040 1050 1060 1070 1080
PDELAHVEKA SRVSAENLQK SLDQMKKQIA DVERDVQNFP AATDEKDKFV EKMTSFVKDA
1090 1100 1110 1120 1130 1140
QEQYNKLRMM HSNMETLYKE LGDYFVFDPK KLSVEEFFMD LHNFRNMFLQ AVKENQKRRE
1150 1160 1170 1180 1190 1200
TEEKMRRAKL AKEKAEKERL EKQQKREQLI DMNAEGDETG VMDSLLEALQ SGAAFRRKRG
1210 1220 1230 1240 1250
PRQVNRKAGC AVTSLLASEL TKDDAMAPGP VKVPKKSEGV PTILEEAKEL VGRAS