Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

15 structures for P20339

Entry ID Method Resolution Chain Position Source
1N6H X-ray 151 A A 15-184 PDB
1N6I X-ray 160 A A 15-184 PDB
1N6K X-ray 155 A A 15-184 PDB
1N6L X-ray 160 A A 15-184 PDB
1N6N X-ray 160 A A 15-184 PDB
1N6O X-ray 180 A A 15-184 PDB
1N6P X-ray 154 A A 15-184 PDB
1N6R X-ray 155 A A 15-184 PDB
1R2Q X-ray 105 A A 15-184 PDB
1TU3 X-ray 231 A A/B/C/D/E 15-184 PDB
1TU4 X-ray 220 A A/B/C/D 15-184 PDB
3MJH X-ray 203 A A/C 16-183 PDB
4Q9U X-ray 462 A B/F 15-184 PDB
7BL1 EM 980 A DDD 16-183 PDB
AF-P20339-F1 Predicted AlphaFoldDB

143 variants for P20339

Variant ID(s) Position Change Description Diseaes Association Provenance
CA351870721
rs1575065947
2 A>G No ClinGen
Ensembl
CA2283947
rs774566349
3 S>N No ClinGen
ExAC
gnomAD
rs200047397
CA351870756
4 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2283948
rs200047397
4 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351870768
rs1165832157
5 G>D No ClinGen
gnomAD
COSM2948363
rs144198452
CA2283950
6 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2283952
rs765282057
7 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs765282057
CA351870796
7 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA351870814
rs1279277845
8 R>G No ClinGen
TOPMed
rs1450539066
CA351870854
10 N>D No ClinGen
gnomAD
rs1336388627
CA351870861
10 N>S No ClinGen
TOPMed
gnomAD
CA70736027
rs139006514
11 G>E No ClinGen
1000Genomes
TOPMed
gnomAD
CA351870871
rs1247949373
CA351870876
11 G>R No ClinGen
TOPMed
gnomAD
CA351870944
rs1160737451
14 T>M No ClinGen
TOPMed
CA2283955
rs149206559
14 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781668564
CA2283958
15 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1007656246
CA70736031
15 G>R No ClinGen
TOPMed
rs1202465417
CA351871025
17 K>R No ClinGen
gnomAD
CA2283960
rs147139196
19 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351871064
rs147139196
19 C>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1175071032
CA351871072
19 C>Y No ClinGen
gnomAD
CA2283961
rs778287571
20 Q>E No ClinGen
ExAC
gnomAD
CA351871129
rs1418797273
22 K>R No ClinGen
gnomAD
TCGA novel 23 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 25 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2283967
rs772319638
37 V>A No ClinGen
ExAC
gnomAD
rs772319638
CA2283966
37 V>G No ClinGen
ExAC
gnomAD
CA351871486
rs1317673177
39 R>C No ClinGen
TOPMed
CA351871491
rs1559484871
39 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA351871533
rs1296605076
41 V>L No ClinGen
TOPMed
gnomAD
rs775197969
CA2283969
45 F>L No ClinGen
ExAC
gnomAD
rs773130913
CA2283970
46 H>N No ClinGen
ExAC
gnomAD
CA2283971
rs762827236
50 E>D No ClinGen
ExAC
gnomAD
rs1222784580
CA351871855
51 S>N No ClinGen
gnomAD
CA2283972
rs765895417
55 A>T No ClinGen
ExAC
gnomAD
rs372972286
CA2284006
62 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372972286
CA2284005
62 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749099814
CA2284007
63 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2284008
rs770773757
65 D>A No ClinGen
ExAC
gnomAD
CA351857481
rs770773757
65 D>G No ClinGen
ExAC
gnomAD
rs1468347379
CA351857514
67 T>A No ClinGen
gnomAD
rs745834147
CA351857576
70 K>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 74 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 75 D>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351857693
rs1458399542
76 T>I No ClinGen
gnomAD
rs1185033870
CA351857727
79 Q>E No ClinGen
TOPMed
CA351857725
rs1185033870
79 Q>K No ClinGen
TOPMed
CA351857732
rs1575076122
79 Q>P No ClinGen
Ensembl
rs1049089
CA70738526
81 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA70738530
rs969117779
COSM3365145
81 R>Q kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1452938110
CA351857801
83 H>R No ClinGen
gnomAD
CA70738532
rs371989994
87 P>L No ClinGen
ESP
TOPMed
rs760341655
CA2284013
88 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1440455566
CA351857855
91 R>K No ClinGen
gnomAD
rs1259412635
CA351857860
92 G>R No ClinGen
TOPMed
rs1198661606
CA351857870
93 A>G No ClinGen
TOPMed
CA70738540
rs896085692
94 Q>R No ClinGen
TOPMed
gnomAD
CA351857879
rs549562506
95 A>P No ClinGen
Ensembl
rs549562506
CA70738542
95 A>T No ClinGen
Ensembl
CA351857881
rs1229696502
95 A>V No ClinGen
TOPMed
rs762022235
CA2284016
97 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1010513577
CA70738546
99 V>L No ClinGen
TOPMed
rs1034793274
CA70738548
101 D>N No ClinGen
Ensembl
rs759467773 106 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1324344650
CA351857966
106 E>G No ClinGen
TOPMed
CA2284039
rs752124120
106 E>Q No ClinGen
ExAC
gnomAD
rs1559491993
CA351857972
107 S>T No ClinGen
Ensembl
CA2284041
rs373073333
109 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1184774975
CA351858009
111 A>T No ClinGen
gnomAD
rs1344123730
CA351858023
112 K>E No ClinGen
gnomAD
TCGA novel 113 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351858125
rs1488785493
119 Q>E No ClinGen
gnomAD
rs756454883
CA2284043
119 Q>R No ClinGen
ExAC
gnomAD
CA2284046
rs181298476
123 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779797281
CA2284047
124 P>A No ClinGen
ExAC
gnomAD
rs1451771428
CA351858199
124 P>L No ClinGen
TOPMed
gnomAD
rs1451771428
CA351858201
124 P>R No ClinGen
TOPMed
gnomAD
rs1383291378
CA351858204
125 N>D No ClinGen
TOPMed
rs140005569
CA2284048
125 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA70738655
rs375086132
125 N>S No ClinGen
ESP
gnomAD
CA2284049
rs754401679
126 I>T No ClinGen
ExAC
gnomAD
rs1458883312
CA351858219
126 I>V No ClinGen
gnomAD
rs1575076324
CA351858253
128 I>M No ClinGen
Ensembl
rs1382973577
CA351858263
129 A>G No ClinGen
gnomAD
rs1321527286
CA351858289
131 S>L No ClinGen
TOPMed
gnomAD
CA351858309
rs1450671486
133 N>S No ClinGen
gnomAD
CA70738663
rs550288787
135 A>G No ClinGen
gnomAD
CA2284054
rs749601586
136 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs760110691
CA2284057
138 A>S No ClinGen
ExAC
gnomAD
rs760110691
CA2284058
138 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2284059
rs775680725
142 A>G No ClinGen
ExAC
gnomAD
rs1459723987
CA351858423
142 A>T No ClinGen
gnomAD
CA2284082
rs764274481
148 A>P No ClinGen
ExAC
gnomAD
rs200242114
CA2284083
148 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201422065
CA2284084
149 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs766063435
CA2284085
151 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1341285683
CA351859243
151 Y>H No ClinGen
TOPMed
CA351859272
rs1274095230
152 A>G No ClinGen
gnomAD
CA351859268
rs1254575777
152 A>S No ClinGen
gnomAD
rs1190653315
CA351859282
153 D>A No ClinGen
TOPMed
gnomAD
CA351859284
rs1190653315
153 D>G No ClinGen
TOPMed
gnomAD
rs751408634
CA2284086
153 D>H No ClinGen
ExAC
gnomAD
CA351859334
rs1435148044
155 N>S No ClinGen
gnomAD
CA351859403
rs1369719292
160 M>K No ClinGen
gnomAD
CA70739377
rs147085379
CA2284087
160 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA351859400
rs147085379
160 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772699440
CA2284088
161 E>K No ClinGen
ExAC
gnomAD
CA2284091
rs777286944
164 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs753467909
CA2284092
167 S>* No ClinGen
ExAC
gnomAD
rs998497699
CA70739387
167 S>T No ClinGen
Ensembl
rs575707256
CA2284093
168 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA351859532
rs1413976208
169 N>K No ClinGen
TOPMed
CA351859556
rs1559492752
171 N>I No ClinGen
Ensembl
CA351859607
rs1212448971
175 M>V No ClinGen
gnomAD
TCGA novel 176 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2284094
rs779142398
177 I>V No ClinGen
ExAC
gnomAD
TCGA novel 180 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA351860488
rs1190693269
180 K>R No ClinGen
TOPMed
gnomAD
rs1472341323
CA351860502
182 P>R No ClinGen
TOPMed
gnomAD
CA2284114
rs758749672
184 N>S No ClinGen
ExAC
gnomAD
rs780583803
CA2284115
185 E>K No ClinGen
ExAC
gnomAD
CA2284116
rs747492893
186 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1157810705
CA351860552
189 P>L No ClinGen
gnomAD
rs781415431
CA2284118
191 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs748204519
CA2284119
193 S>F No ClinGen
ExAC
gnomAD
CA2284120
rs769770592
194 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs55823411
CA70741468
195 R>G No ClinGen
Ensembl
rs1285345308
CA351860584
195 R>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1382009772
CA351860604
198 G>E No ClinGen
gnomAD
CA351860607
rs1227048864
199 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA351860608
rs1227048864
199 V>L No ClinGen
gnomAD
rs150383454
CA70741471
203 E>D No ClinGen
ESP
CA2284123
rs771833104
203 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs775305902
CA2284124
205 T>I No ClinGen
ExAC
gnomAD
CA2284126
rs764079310
207 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA351860680
rs761318666
210 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA2284128
rs761318666
210 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 211 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA70741493
rs764684048
211 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA351860686
rs1249748048
211 Q>P No ClinGen
TOPMed
CA351860707
rs1265203602
214 S>G No ClinGen
TOPMed
TCGA novel 215 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758032572
CA2284131
216 N>Q No ClinGen
ExAC
gnomAD

No associated diseases with P20339

1 regional properties for P20339

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 21 - 176 IPR005225

Functions

Description
EC Number 3.6.5.2 Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization
  • Cell membrane ; Lipid-anchor ; Cytoplasmic side
  • Early endosome membrane ; Lipid-anchor
  • Melanosome
  • Cytoplasmic vesicle
  • Cell projection, ruffle
  • Membrane
  • Cytoplasm, cytosol
  • Cytoplasmic vesicle, phagosome membrane
  • Endosome membrane
  • Enriched in stage I melanosomes (PubMed:17081065)
  • Alternates between membrane-bound and cytosolic forms (Probable)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

29 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
anchored component of synaptic vesicle membrane The component of the synaptic vesicle membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping.
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
axon terminus Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
clathrin-coated endocytic vesicle membrane The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of early endosome membrane The side (leaflet) of the early endosome membrane that faces the cytoplasm.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
early endosome A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
early endosome membrane The lipid bilayer surrounding an early endosome.
early phagosome A membrane-bounded intracellular vesicle as initially formed upon the ingestion of particulate material by phagocytosis.
endocytic vesicle A membrane-bounded intracellular vesicle formed by invagination of the plasma membrane around an extracellular substance. Endocytic vesicles fuse with early endosomes to deliver the cargo for further sorting.
endosome A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane The lipid bilayer surrounding an endosome.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
melanosome A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells.
membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
phagocytic vesicle A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
phagocytic vesicle membrane The lipid bilayer surrounding a phagocytic vesicle.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic early endosome An early endosome of the postsynapse. It acts as the major sorting station on the endocytic pathway, targeting neurotransmitter receptors for degregation or recycling.
ruffle Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.
somatodendritic compartment The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon.
synaptic vesicle A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane.
terminal bouton Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.

4 GO annotations of molecular function

Name Definition
G protein activity A molecular function regulator that cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular processes. Intrinsic GTPase activity returns the G protein to its GDP-bound state. The return to the GDP-bound state can be accelerated by the action of a GTPase-activating protein (GAP).
GDP binding Binding to GDP, guanosine 5'-diphosphate.
GTP binding Binding to GTP, guanosine triphosphate.
GTPase activity Catalysis of the reaction: GTP + H2O = GDP + H+ + phosphate.

15 GO annotations of biological process

Name Definition
amyloid-beta clearance by transcytosis The process in which amyloid-beta is removed from extracellular brain regions by cell surface receptor-mediated endocytosis, followed by transcytosis across the blood-brain barrier.
early endosome to late endosome transport The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs.
endocytosis A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
intracellular protein transport The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
modulation by host of viral process A process in which a host organism modulates the frequency, rate or extent of any of a process being mediated by a virus with which it is infected.
phagocytosis A vesicle-mediated transport process that results in the engulfment of external particulate material by phagocytes and their delivery to the lysosome. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles.
positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis.
receptor internalization involved in canonical Wnt signaling pathway A receptor internalization process that contributes to canonical Wnt signaling pathway.
regulation of autophagosome assembly Any process that modulates the frequency, rate or extent of autophagosome assembly.
regulation of endocytosis Any process that modulates the frequency, rate or extent of endocytosis.
regulation of endosome size Any process that modulates the volume of an endosome, a membrane-bounded organelle that carries materials newly ingested by endocytosis.
regulation of filopodium assembly Any process that modulates the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
regulation of long-term neuronal synaptic plasticity A process that modulates long-term neuronal synaptic plasticity, the ability of neuronal synapses to change long-term as circumstances require. Long-term neuronal synaptic plasticity generally involves increase or decrease in actual synapse numbers.
regulation of synaptic vesicle exocytosis Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis.
synaptic vesicle recycling The trafficking of synaptic vesicles from the pre-synaptic membrane so the vesicle can dock and prime for another round of exocytosis and neurotransmitter release. Recycling occurs after synaptic vesicle exocytosis, and is necessary to replenish presynaptic vesicle pools, sustain transmitter release and preserve the structural integrity of the presynaptic membrane. Recycling can occur following transient fusion with the presynaptic membrane (kiss and run), or via endocytosis of presynaptic membrane.

7 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P38146 YPT10 GTP-binding protein YPT10 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q9NRW1 RAB6B Ras-related protein Rab-6B Homo sapiens (Human) PR
Q5JT25 RAB41 Ras-related protein Rab-41 Homo sapiens (Human) PR
P20340 RAB6A Ras-related protein Rab-6A Homo sapiens (Human) PR
Q9NP72 RAB18 Ras-related protein Rab-18 Homo sapiens (Human) PR
A4D1S5 RAB19 Ras-related protein Rab-19 Homo sapiens (Human) PR
Q9ULC3 RAB23 Ras-related protein Rab-23 Homo sapiens (Human) PR
10 20 30 40 50 60
MASRGATRPN GPNTGNKICQ FKLVLLGESA VGKSSLVLRF VKGQFHEFQE STIGAAFLTQ
70 80 90 100 110 120
TVCLDDTTVK FEIWDTAGQE RYHSLAPMYY RGAQAAIVVY DITNEESFAR AKNWVKELQR
130 140 150 160 170 180
QASPNIVIAL SGNKADLANK RAVDFQEAQS YADDNSLLFM ETSAKTSMNV NEIFMAIAKK
190 200 210
LPKNEPQNPG ANSARGRGVD LTEPTQPTRN QCCSN