Q3B7L5

PR
Gene name
FLCN
Protein name
Folliculin
Names
Species
Bos taurus (Bovine)
KEGG Pathway
bta:526652
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

10-114 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q3B7L5

Entry ID Method Resolution Chain Position Source
AF-Q3B7L5-F1 Predicted AlphaFoldDB

149 variants for Q3B7L5

Variant ID(s) Position Change Description Diseaes Association Provenance
rs461501014 13 L>R No EVA
rs476853719 14 H>N No EVA
rs443865661 16 P>S No EVA
rs459221501 17 R>H No EVA
rs477788645 21 C>Y No EVA
rs447586204 23 E>* No EVA
rs459626749 23 E>G No EVA
rs481271586 26 H>Q No EVA
rs448511403 29 L>R No EVA
rs449840111 31 Q>R No EVA
rs465261158 33 A>G No EVA
rs453681340 34 G>V No EVA
rs436040223 35 S>G No EVA
rs454645266 35 S>N No EVA
rs476334334 35 S>R No EVA
rs452659764 37 D>E No EVA
rs471298961 39 A>P No EVA
rs459551013 40 G>S No EVA
rs441998769 41 R>* No EVA
rs463854097 41 R>P No EVA
rs447598005 47 E>G No EVA
rs465735157 49 E>* No EVA
rs435952552 49 E>G No EVA
rs454557493 53 Q>H No EVA
rs469887257 54 M>L No EVA
rs436923024 54 M>R No EVA
rs452629411 56 S>I No EVA
rs441441382 57 R>C No EVA
rs453463641 58 I>F No EVA
rs441961741 66 G>A No EVA
rs482324287 67 A>S No EVA
rs439700951 71 S>T No EVA
rs458713416 72 S>T No EVA
rs466048836 77 K>E No EVA
rs481352511 80 D>A No EVA
rs476888850 87 S>A No EVA
rs458739104 90 A>E No EVA
rs477231243 96 I>L No EVA
rs441194957 129 L>R No EVA
rs435367605 135 P>T No EVA
rs457022628 138 E>A No EVA
rs475462138 139 G>A No EVA
rs451166344 140 P>A No EVA
rs451166344 140 P>S No EVA
rs473054150 142 F>V No EVA
rs440018820 151 V>A No EVA
rs461839645 174 A>P No EVA
rs473947327 175 I>L No EVA
rs444622958 179 R>C No EVA
rs463153160 180 I>L No EVA
rs478461687 190 L>V No EVA
rs445577373 197 I>L No EVA
rs479039113 199 E>D No EVA
rs460870961 199 E>V No EVA
rs459132121 202 G>D No EVA
rs449232086 202 G>R No EVA
rs457795964 207 V>E No EVA
rs480036809 208 F>L No EVA
rs447044267 209 E>A No EVA
rs462449490 210 A>G No EVA
rs480915717 211 E>* No EVA
rs450876241 224 T>A No EVA
rs456699985 271 E>V No EVA
rs471953076 275 E>A No EVA
rs432594053 275 E>D No EVA
rs472980466 279 T>S No EVA
rs461189064 280 E>K No EVA
rs476474843 281 D>A No EVA
rs459077975 282 T>P No EVA
rs459077975 282 T>S No EVA
rs445070297 284 V>A No EVA
rs460401177 286 M>I No EVA
rs478959096 288 Q>R No EVA
rs464865223 293 E>G No EVA
rs434775039 297 E>K No EVA
rs465240837 299 W>* No EVA
rs468627925 311 P>H No EVA
rs435690982 316 G>A No EVA
rs454694191 317 A>G No EVA
rs476380521 318 E>G No EVA
rs437016780 320 R>G No EVA
rs452372873 321 E>* No EVA
rs470921701 321 E>A No EVA
rs459194130 322 L>P No EVA
rs440744017 322 L>V No EVA
rs474476552 323 T>P No EVA
rs441688441 325 C>G No EVA
rs463314870 327 A>G No EVA
rs458398284 328 E>G No EVA
rs439838029 328 E>K No EVA
rs480180460 329 S>A No EVA
rs446826673 329 S>C No EVA
rs468589135 331 L>V No EVA
rs436988911 334 D>A No EVA
rs452218616 335 C>R No EVA
rs464425372 335 C>W No EVA
rs434663319 336 G>E No EVA
rs434663319 336 G>V No EVA
rs452765204 337 A>D No EVA
rs452765204 337 A>G No EVA
rs441602770 338 W>R No EVA
rs456869325 339 Q>E No EVA
rs475510142 339 Q>H No EVA
rs456869325 339 Q>K No EVA
rs458288846 342 K>Q No EVA
rs480118791 346 F>L No EVA
rs440718420 348 S>W No EVA
rs462478181 352 M>R No EVA
rs480602122 354 Q>H No EVA
rs465553445 370 M>R No EVA
rs468715877 403 I>T No EVA
rs466637306 406 S>T No EVA
rs433672332 412 A>D No EVA
rs454650403 429 H>L No EVA
rs718280448 433 S>P No EVA
rs468010586 435 F>L No EVA
rs438308258 439 V>L No EVA
rs135529351 440 E>A No EVA
rs135529351 440 E>G No EVA
rs471595596 442 H>P No EVA
rs136846837 443 T>P No EVA
rs454029918 444 A>T No EVA
rs440157718 445 T>N No EVA
rs472512399 445 T>P No EVA
rs480501528 446 R>G No EVA
rs444304270 446 R>L No EVA
rs477795969 450 H>P No EVA
rs477795969 450 H>R No EVA
rs444853044 452 V>F No EVA
rs478720985 454 C>G No EVA
rs449369874 455 E>A No EVA
rs467971815 457 E>K No EVA
rs438222636 461 S>G No EVA
rs450355545 463 Y>N No EVA
rs465499423 465 F>V No EVA
rs438383133 478 V>D No EVA
rs478677342 479 G>R No EVA
rs448953143 479 G>V No EVA
rs801114214 486 M>T No EVA
rs461046858 497 V>A No EVA
rs461046858 497 V>G No EVA
rs134875130 499 V>G No EVA
rs483205590 511 W>G No EVA
rs452008551 514 K>R No EVA
rs470481830 515 V>G No EVA
rs453018190 524 V>G No EVA
rs466772276 524 V>M No EVA
rs475201299 528 P>A No EVA
rs463978386 537 S>G No EVA

No associated diseases with Q3B7L5

4 regional properties for Q3B7L5

Type Name Position InterPro Accession
domain FAD-binding 8 442 - 543 IPR013112
domain Ferric reductase, NAD binding domain 550 - 691 IPR013121
domain Ferric reductase transmembrane component-like domain 288 - 403 IPR013130
domain FAD-binding domain, ferredoxin reductase-type 412 - 546 IPR017927

Functions

Description
EC Number
Subcellular Localization
  • Lysosome membrane
  • Cytoplasm, cytosol
  • Cell projection, cilium
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Cytoplasm, cytoskeleton, spindle
  • Nucleus
  • Localizes to lysosome membrane in amino acid-depleted conditions and relocalizes to the cytosol upon refeeding
  • Colocalizes with FNIP1 and FNIP2 in the cytoplasm
  • Also localizes to motile and non-motile cilia, centrosomes and the mitotic spindle
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

10 GO annotations of cellular component

Name Definition
cell-cell contact zone Extended zone of intimate apposition between two cells containing one or more types of intercellular junctions, e.g., the intercalated disk of muscle.
centrosome A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
lysosomal membrane The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
midbody A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
mitotic spindle A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules.
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.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name Definition
enzyme binding Binding to an enzyme, a protein with catalytic activity.
enzyme inhibitor activity Binds to and stops, prevents or reduces the activity of an enzyme.
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
protein-containing complex binding Binding to a macromolecular complex.

50 GO annotations of biological process

Name Definition
cell proliferation involved in kidney development The multiplication or reproduction of cells, resulting in the expansion of the population in the kidney.
cell-cell junction assembly The aggregation, arrangement and bonding together of a set of components to form a junction between cells.
cellular response to amino acid starvation 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 deprivation of amino acids.
cellular response to starvation 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 deprivation of nourishment.
energy homeostasis Any process involved in the balance between food intake (energy input) and energy expenditure.
epithelial cell proliferation The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances.
ERK1 and ERK2 cascade An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
hemopoiesis The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates.
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.
intrinsic apoptotic signaling pathway The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP).
lysosome localization Any process in which a lysosome is transported to, and/or maintained in, a specific location.
negative regulation of ATP biosynthetic process Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process.
negative regulation of brown fat cell differentiation Any process that stops, prevents or reduces the frequency, rate or extent of brown fat cell differentiation.
negative regulation of cell growth Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell proliferation involved in kidney development Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation involved in kidney development.
negative regulation of cellular respiration Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration.
negative regulation of cold-induced thermogenesis Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis.
negative regulation of epithelial cell proliferation Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation.
negative regulation of ERK1 and ERK2 cascade Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
negative regulation of gene expression Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of glycolytic process Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis.
negative regulation of mitochondrial DNA metabolic process Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process.
negative regulation of mitochondrion organization Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion.
negative regulation of muscle tissue development Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development.
negative regulation of post-translational protein modification Any process that stops, prevents or reduces the frequency, rate or extent of post-translational protein modification.
negative regulation of protein kinase B signaling Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
negative regulation of protein localization to nucleus Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus.
negative regulation of Rho protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction.
negative regulation of TOR signaling Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
negative regulation of transcription by RNA polymerase II Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of apoptotic process Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of autophagy Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of cell adhesion Any process that activates or increases the frequency, rate or extent of cell adhesion.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
positive regulation of intrinsic apoptotic signaling pathway Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway.
positive regulation of protein phosphorylation Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein.
positive regulation of TOR signaling Any process that activates or increases the frequency, rate or extent of TOR signaling.
positive regulation of TORC1 signaling Any process that activates or increases the frequency, rate or extent of TORC1 signaling.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transforming growth factor beta receptor signaling pathway Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity.
protein kinase B signaling A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
regulation of cytokinesis Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of histone acetylation Any process that modulates the frequency, rate or extent of the addition of an acetyl group to a histone protein.
regulation of pro-B cell differentiation Any process that modulates the frequency, rate or extent of pro-B cell differentiation.
regulation of protein phosphorylation Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein.
regulation of Ras protein signal transduction Any process that modulates the frequency, rate or extent of Ras protein signal transduction.
regulation of TOR signaling Any process that modulates the frequency, rate or extent of TOR signaling.
TOR signaling The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors.
transforming growth factor beta receptor signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P53237 LST7 Protein LST7 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q8NFG4 FLCN Folliculin Homo sapiens (Human) PR
Q8QZS3 Flcn Folliculin Mus musculus (Mouse) PR
Q76JQ2 Flcn Folliculin Rattus norvegicus (Rat) PR
Q5M7Q1 flcn Folliculin Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGAGSGDGAG RGEPADEEEG GIQMSSRIRA
70 80 90 100 110 120
HSPAEGASAE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPNHPQLFSI
130 140 150 160 170 180
VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIIAIMMDRI
190 200 210 220 230 240
YLINSWPFLL GKIRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS
250 260 270 280 290 300
LTSLTNDDSL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEQLA ELEEESESWD
310 320 330 340 350 360
NSEAEEEEKG PALPEGAEGR ELTKCPAESS LLSDCGAWQP RKLSVFKSLR HMRQVLGAPS
370 380 390 400 410 420
FRTLAWHVLM GNQVIWKSRD SDLVHSAFEV LRTMLPVGCV RVIPYSSQYE EAYRCNFLGL
430 440 450 460 470 480
SPHVQIPPHV LASEFAVVVE VHTATRSSLH AVGCESEQPL SKYEFVVTSG SPVAADRVGP
490 500 510 520 530 540
TILNKMEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG
550 560 570
ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTALEPRN