F1LVW7

EV
Gene name
Diaph3
Protein name
Protein diaphanous homolog 3
Names
Diaphanous-related formin-3 , DRF3 , mDIA2
Species
Rattus norvegicus (Rat)
KEGG Pathway
rno:290396
EC number
Protein Class
SYNTENIN RELATED (PTHR12345)

Descriptions

Mint adaptor proteins bind to the amyloid precursor protein (APP) and regulate APP processing associated with Alzheimer’s disease. The Mint1 phosphotyrosine binding (PTB) domain that binds to APP is intramolecularly inhibited by the adjacent C-terminal linker region (the autoinhibitory helix) that folds back onto the core structure of the PTB domain and sterically hinders the APP binding site. This intramolecular interaction is disrupted by mutation of Tyr633 within Mint1 autoinhibitory helix, enhancing APP binding and β-amyloid production. As a result, Mint1 undergoes a conformational transition between a closed state that does not bind APP and an open state that involves APP binding and its proteolytic processing.

Autoinhibitory domains (AIDs)

149-394 (DID domain) SS

Target domain

94-277 (GBD domain)

Relief mechanism

Partner binding

Assay

1004-1064 (DAD domain) SS

Target domain

94-277 (GBD domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for F1LVW7

Entry ID Method Resolution Chain Position Source
AF-F1LVW7-F1 Predicted AlphaFoldDB

No variants for F1LVW7

Variant ID(s) Position Change Description Diseaes Association Provenance
No variants for F1LVW7

No associated diseases with F1LVW7

3 regional properties for F1LVW7

Type Name Position InterPro Accession
domain Homeobox domain 69 - 133 IPR001356
domain OAR domain 341 - 358 IPR003654
conserved_site Homeobox, conserved site 104 - 127 IPR017970

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, perinuclear region
  • Nucleus
  • Only a small proportion of the protein is nuclear
PANTHER Family PTHR12345 SYNTENIN RELATED
PANTHER Subfamily PTHR12345:SF14 AMYLOID-BETA A4 PRECURSOR PROTEIN-BINDING FAMILY A MEMBER 1
PANTHER Protein Class membrane trafficking regulatory protein
PANTHER Pathway Category Alzheimer disease-amyloid secretase pathway
X11alpha
Alzheimer disease-amyloid secretase pathway
Tip60

11 GO annotations of cellular component

Name Definition
actin filament A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane.
actin filament bundle An assembly of actin filaments that are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.
cleavage furrow The cleavage furrow is a plasma membrane invagination at the cell division site. The cleavage furrow begins as a shallow groove and eventually deepens to divide the cytoplasm.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
ESCRT I complex An endosomal sorting complex required for transport. It consists of the class E vacuolar protein sorting (Vps) proteins and interacts with ubiquitinated cargoes.
filamentous actin A two-stranded helical polymer of the protein actin.
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.
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.
ribbon synapse Type of synapse characterized by an electron-dense ribbon, lamella (bar) or spherical body in the presynaptic process cytoplasm.
spindle pole Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules.
stereocilia tip-link density An electron-dense plaque at either end of a stereocilia tip link that provides the anchor in the stereocilia membrane.

5 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
cytoskeletal protein binding Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton).
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
protein homodimerization activity Binding to an identical protein to form a homodimer.
small GTPase binding Binding to a small monomeric GTPase.

29 GO annotations of biological process

Name Definition
actin crosslink formation The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes.
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 bundle assembly The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness.
actin filament 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. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
actin filament polymerization Assembly of actin filaments by the addition of actin monomers to a filament.
actin nucleation The initial step in the formation of an actin filament, in which actin monomers combine to form a new filament. Nucleation is slow relative to the subsequent addition of more monomers to extend the filament.
autophagosome-lysosome fusion The process in which autophagosomes, double-membraned vesicles containing cytoplasmic material, fuse with a vacuole (yeast) or lysosome (e.g. mammals and insects). In the case of yeast, inner membrane-bounded structures (autophagic bodies) appear in the vacuole. Fusion provides an acidic environment and digestive function to the interior of the autophagosome.
cell projection organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon.
chromosome segregation The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles.
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.
endosomal transport The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane.
erythrocyte differentiation The process in which a myeloid precursor cell acquires specializes features of an erythrocyte.
erythrocyte enucleation The process in which nucleated precursor cells lose their nucleus during erythrocyte maturation.
establishment of cell polarity The specification and formation of anisotropic intracellular organization or cell growth patterns.
gene expression The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
head development The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
inner ear receptor cell differentiation The process in which relatively unspecialized cells, acquire specialized structural and/or functional features of inner ear receptor cells. Inner ear receptor cells are mechanorecptors found in the inner ear responsible for transducing signals involved in balance and sensory perception of sound.
integrin-mediated signaling pathway The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
macrophage differentiation The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage.
microtubule 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 microtubules and their associated proteins.
microtubule polymerization The addition of tubulin heterodimers to one or both ends of a microtubule.
negative regulation of microtubule depolymerization Any process that stops, prevents, or reduces the frequency, rate or extent of microtubule depolymerization; prevention of depolymerization of a microtubule can result from binding by 'capping' at the plus end (e.g. by interaction with another cellular protein of structure) or by exposing microtubules to a stabilizing drug such as taxol.
neuron differentiation The process in which a relatively unspecialized cell acquires specialized features of a neuron.
organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane.
podosome assembly The aggregation, arrangement and bonding together of a set of components to form a podosome, an actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell.
protein-containing complex remodeling The acquisition, loss, or modification of macromolecules within a complex, resulting in the alteration of an existing complex.
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.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

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
O60610 DIAPH1 Protein diaphanous homolog 1 Homo sapiens (Human) SS
Q9NSV4 DIAPH3 Protein diaphanous homolog 3 Homo sapiens (Human) SS
O08808 Diaph1 Protein diaphanous homolog 1 Mus musculus (Mouse) EV
O70566 Diaph2 Protein diaphanous homolog 2 Mus musculus (Mouse) SS
Q9Z207 Diaph3 Protein diaphanous homolog 3 Mus musculus (Mouse) SS
F1M775 Diaph1 Protein diaphanous homolog 1 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MNHLEGSAEV EVADEAPGGE VNESVEADLE HPEVEEEQQP SPPPPAGHAP EDHRAHPAPP
70 80 90 100 110 120
PPPPPQEEEE ERGECLARSA STESGFHNHT DTAEGDVLAA ARDGYEAERA QDADDESAYA
130 140 150 160 170 180
VQYRPEAEEY TEQAEAEHAE AAQRRALPNH LHFHSLEHEE AMNAAYSGYV YTHRLFHRAE
190 200 210 220 230 240
DEPYAEPYAD YGGLQEHVYE EIGDAPELEA RDGLRLYERE RDEAAAYRQE ALGARLHHYD
250 260 270 280 290 300
ERSDGESDSP EKEAEFAPYP RMDSYEQEED IDQIVAEVKQ SMSSQSLDKA AEDMPEAEQD
310 320 330 340 350 360
LERAPTPGGG HPDSPGLPAP AGQQQRVVGT PGGSEVGQRY SKEKRDAISL AIKDIKEAIE
370 380 390 400 410 420
EVKTRTIRSP YTPDEPKEPI WVMRQDISPT RDCDDQRPVD GDSPSPGSSS PLGAESSITP
430 440 450 460 470 480
LHPGDPTEAS TNKESRKSLA SFPTYVEVPG PCDPEDLIDG IIFAANYLGS TQLLSDKTPS
490 500 510 520 530 540
KNVRMMQAQE AVSRIKTAQK LAKSRKKAPE GESQPMTEVD LFISTQRIKV LNADTQEPMM
550 560 570 580 590 600
DHPLRTISYI ADIGNIVVLM ARRRMPRSNS QENVEASHPS QDAKRQYKMI CHVFESEDAQ
610 620 630 640 650 660
LIAQSIGQAF SVAYQEFLRA NGINPEDLSQ KEYSDLLNTQ DMYNDDLIHF SKSENCKDVF
670 680 690 700 710 720
IEKQKGEILG VVIVESGWGS ILPTVIIANM MHGGPAEKSG KLNIGDQIMS INGTSLVGLP
730 740 750 760 770 780
LSTCQSIIKG LKNQSRVKLN IVRCPPVTTV LIRRPDLRYQ LGFSVQNGII CSLMRGGIAE
790 800 810 820 830
RGGVRVGHRI IEINGQSVVA TPHEKIVHIL SNAVGEIHMK TMPAAMYRLL TAQEQPVYI