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

4 structures for Q15907

Entry ID Method Resolution Chain Position Source
2F9L X-ray 155 A A 8-205 PDB
2F9M X-ray 195 A A 8-205 PDB
4OJK X-ray 266 A A/B 8-205 PDB
AF-Q15907-F1 Predicted AlphaFoldDB

140 variants for Q15907

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV000523787
VAR_080598
CA403709616
rs1555690779
22 V>M Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter NDAGSCW [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA403711179
RCV001052890
rs1555690804
VAR_080599
RCV000520305
68 A>T Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter NDAGSCW [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1971454639
RCV001329826
195 V>M Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [ClinVar] Yes ClinVar
dbSNP
rs1358098381
CA403706964
2 G>R No ClinGen
gnomAD
CA9156252
rs768804811
3 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA304970140
rs1039303139
3 T>N No ClinGen
Ensembl
CA304970160
rs920560749
4 R>Q No ClinGen
Ensembl
rs763624059
CA9156257
5 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA9156256
rs773651562
5 D>N No ClinGen
ExAC
gnomAD
CA9156258
CA403707068
rs766981683
7 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1047798308
CA304970180
7 E>K No ClinGen
gnomAD
CA403707078
rs1353087352
8 Y>F No ClinGen
gnomAD
CA403709477
rs1568228630
18 G>R No ClinGen
Ensembl
rs770191495
CA9156289
34 N>S No ClinGen
ExAC
gnomAD
CA403710117
rs1258251137
36 F>V No ClinGen
TOPMed
rs778110677
CA9156290
37 N>I No ClinGen
ExAC
gnomAD
CA403710383
rs1599687403
43 T>P No ClinGen
Ensembl
rs1216134182
CA403710417
44 I>V No ClinGen
gnomAD
rs1487229487
CA403710475
45 G>S No ClinGen
gnomAD
TCGA novel 48 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403710713
rs1300751200
51 R>H No ClinGen
gnomAD
rs951143696
CA304975074
52 S>G No ClinGen
Ensembl
CA403710859
rs760153019
54 Q>H No ClinGen
ExAC
gnomAD
rs1347989637
CA403710883
55 V>A No ClinGen
gnomAD
rs754448304
CA304975084
55 V>L No ClinGen
Ensembl
CA304975087
rs866295821
57 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA9156299
rs753519320
57 G>S No ClinGen
ExAC
gnomAD
rs1342650519
CA403710981
59 T>N No ClinGen
gnomAD
CA403710988
rs1374571760
60 I>L No ClinGen
gnomAD
rs761405279
CA9156300
62 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA403711327
rs1288425927
74 R>C No ClinGen
gnomAD
CA9156303
rs541363844
74 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1260781681
CA403711371
76 I>N No ClinGen
gnomAD
rs992140697
CA304975119
79 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA403711785
rs1599688387
80 Y>D No ClinGen
Ensembl
CA403711813
rs1345334664
82 R>S No ClinGen
gnomAD
CA403711845
rs1276015885
84 A>V No ClinGen
gnomAD
rs1199026573
CA403711863
86 G>D No ClinGen
gnomAD
CA403711871
rs1456363974
87 A>T No ClinGen
gnomAD
rs1247388215
CA403711884
88 L>M No ClinGen
gnomAD
rs1171043031
CA403711932
92 D>N No ClinGen
gnomAD
rs1250398546
CA403711961
COSM1169356
94 A>T Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA403712002
rs1173266627
96 H>Y No ClinGen
gnomAD
TCGA novel 97 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1599688430
CA403712031
97 L>P No ClinGen
Ensembl
CA884315612
rs1347024677
99 Y>* No ClinGen
TOPMed
rs780413163
CA9156332
99 Y>C No ClinGen
ExAC
gnomAD
CA403712220
rs1437902263
102 V>L No ClinGen
gnomAD
rs1437902263
CA403712211
102 V>M No ClinGen
gnomAD
rs1404756675
CA403712262
103 E>Q No ClinGen
TOPMed
rs1272779232
CA403712327
104 R>H No ClinGen
gnomAD
TCGA novel 105 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403712534
rs1329829240
110 R>Q No ClinGen
TOPMed
CA9156335
rs776189936
110 R>W No ClinGen
ExAC
gnomAD
CA304976878
rs886597469
111 D>E No ClinGen
TOPMed
gnomAD
rs769527918
CA9156337
113 A>T No ClinGen
ExAC
gnomAD
CA403712710
rs1290426255
114 D>G No ClinGen
gnomAD
rs375511185
CA9156338
115 S>N No ClinGen
ExAC
gnomAD
rs375511185
CA304976902
115 S>T No ClinGen
ExAC
gnomAD
CA9156339
rs762618124
117 I>V No ClinGen
ExAC
gnomAD
rs868743721
CA304976907
118 V>I No ClinGen
TOPMed
gnomAD
CA9156342
rs759616082
119 I>V No ClinGen
ExAC
gnomAD
CA304976939
rs1022889829
120 M>L No ClinGen
TOPMed
TCGA novel 120 M>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1393502140
CA403713015
121 L>P No ClinGen
gnomAD
CA304976942
rs11556319
122 V>L No ClinGen
Ensembl
TCGA novel 123 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403714516
rs1599688528
127 D>A No ClinGen
Ensembl
rs1599688536
CA403714553
129 R>S No ClinGen
Ensembl
CA9156345
rs757250564
130 H>Q No ClinGen
ExAC
gnomAD
rs765316562
CA9156346
132 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1279655419
CA403714646
133 A>S No ClinGen
gnomAD
CA9156347
rs750629022
134 V>L No ClinGen
ExAC
gnomAD
rs1599688560
CA403714689
135 P>L No ClinGen
Ensembl
rs758588165
CA9156348
136 T>I No ClinGen
ExAC
gnomAD
CA403714761
rs1208175024
138 E>* No ClinGen
gnomAD
rs1208175024
CA403714758
138 E>K No ClinGen
gnomAD
rs747366868
CA9156350
140 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374943563
CA9156351
140 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374943563
CA403714838
140 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9156353
rs373086696
141 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 141 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403714920
rs1263418323
142 F>Y No ClinGen
TOPMed
CA403714965
rs772721088
143 A>S No ClinGen
ExAC
gnomAD
CA9156355
rs772721088
143 A>T No ClinGen
ExAC
gnomAD
rs1054368041
CA304976991
143 A>V No ClinGen
gnomAD
TCGA novel 144 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA403714981
rs1163141402
144 E>K No ClinGen
gnomAD
TCGA novel 145 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1171216764
CA403715233
146 N>K No ClinGen
gnomAD
rs1402360969
CA403715258
147 N>S No ClinGen
gnomAD
rs756581801
CA9156372
149 S>F No ClinGen
ExAC
gnomAD
CA403715288
rs1434285419
149 S>P No ClinGen
gnomAD
rs937126014
CA403715419
151 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1393998917
CA403715424
152 E>K No ClinGen
TOPMed
gnomAD
rs1393998917
CA403715426
152 E>Q No ClinGen
TOPMed
gnomAD
rs748820048
CA9156374
157 D>E No ClinGen
ExAC
gnomAD
rs893032942
CA304977190
157 D>N No ClinGen
Ensembl
rs770759610
CA403715693
COSM715632
160 N>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9156376
rs778674562
161 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs372364290
CA304977217
163 E>G No ClinGen
ESP
TOPMed
gnomAD
rs11556321
CA304977224
167 N>D No ClinGen
Ensembl
CA304977228
rs1022148424
167 N>S No ClinGen
TOPMed
CA304977231
rs1041662391
169 L>P No ClinGen
TOPMed
rs553410398
CA9156378
170 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA403716333
rs754387016
173 Y>C No ClinGen
ExAC
gnomAD
CA9156413
rs754387016
173 Y>F No ClinGen
ExAC
gnomAD
CA9156415
rs764840955
174 R>C No ClinGen
ExAC
gnomAD
rs749947672
CA9156416
174 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs749947672
CA403716356
174 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs921864727
CA304978319
176 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 182 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9156420
rs150053146
182 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1166765790
CA403716491
182 A>V No ClinGen
gnomAD
CA403716495
rs1348235869
183 D>H No ClinGen
gnomAD
CA403716517
rs1299045693
184 R>C No ClinGen
TOPMed
gnomAD
rs202233072
CA9156423
185 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA403716563
rs1471606469
186 A>V No ClinGen
TOPMed
rs371272699
CA403716592
187 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1599689234
CA403716623
189 E>K No ClinGen
Ensembl
CA9156428
rs760756275
190 S>C No ClinGen
ExAC
gnomAD
CA9156430
rs776791936
191 P>L No ClinGen
ExAC
gnomAD
CA403716845
rs1483430107
197 D>A No ClinGen
gnomAD
rs1599689260
CA403716892
199 S>T No ClinGen
Ensembl
COSM3404810
CA9156437
rs754522300
200 V>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA403716950
rs1226766733
201 P>L No ClinGen
TOPMed
CA403716969
rs1382440837
202 P>L No ClinGen
gnomAD
CA403716996
rs1418126002
203 T>I No ClinGen
TOPMed
gnomAD
rs377033835
COSM3773236
CA9156439
204 T>M Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142408908
CA9156442
206 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs564037425
CA9156443
209 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 210 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775370486
CA9156444
210 N>K No ClinGen
ExAC
gnomAD
rs1355161342
CA403717211
211 K>R No ClinGen
gnomAD
rs747256929
CA9156445
212 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA403717236
rs1283032090
212 L>P No ClinGen
gnomAD
rs552481060
CA304978446
213 Q>R No ClinGen
gnomAD
CA9156446
rs768753557
217 N>D No ClinGen
ExAC
gnomAD
CA403717385
rs1599689296
217 N>T No ClinGen
Ensembl
rs1599689299
CA403717419
219 L>C No ClinGen
Ensembl

1 associated diseases with Q15907

[MIM: 617807]: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW)

An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem. {ECO:0000269|PubMed:29106825}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant neurodevelopmental disorder apparent in infancy and characterized by severe intellectual disability with absent speech, epilepsy, and hypotonia. Additionally, visual problems, musculoskeletal abnormalities, and microcephaly can be present. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem. {ECO:0000269|PubMed:29106825}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q15907

Type Name Position InterPro Accession
domain Small GTP-binding protein domain 10 - 168 IPR005225

Functions

Description
EC Number 3.6.5.2 Acting on GTP; involved in cellular and subcellular movement
Subcellular Localization
  • Recycling endosome membrane ; Lipid-anchor ; Cytoplasmic side
  • Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Lipid-anchor ; Cytoplasmic side
  • Cytoplasmic vesicle, phagosome membrane ; Lipid-anchor ; Cytoplasmic side
  • Recruited to phagosomes containing S
  • aureus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome A vacuole to which materials ingested by endocytosis are delivered.
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.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
recycling endosome An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
recycling endosome membrane The lipid bilayer surrounding a recycling endosome.
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.
synaptic vesicle membrane The lipid bilayer surrounding a synaptic vesicle.

6 GO annotations of molecular function

Name Definition
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
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.
myosin V binding Binding to a class V myosin; myosin V is a dimeric molecule involved in intracellular transport.

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.
cellular response to acidic pH 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 pH stimulus with pH < 7. pH is a measure of the acidity or basicity of an aqueous solution.
constitutive secretory pathway A process of exocytosis found in all eukaryotic cells, in which transport vesicles destined for the plasma membrane leave the trans-Golgi network in a steady stream. Upon exocytosis, the membrane proteins and lipids in these vesicles provide new components for the plasma membrane, and the soluble proteins inside the vesicles are released into the extracellular space.
endocytic recycling The directed movement of membrane-bounded vesicles from endosomes back to the plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins.
establishment of protein localization to membrane The directed movement of a protein to a specific location in a membrane.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
insulin secretion involved in cellular response to glucose stimulus The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus.
melanosome transport The directed movement of melanosomes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
receptor recycling The process that results in the return of receptor molecules to an active state and an active cellular location after they have been stimulated by a ligand. An active state is when the receptor is ready to receive a signal.
regulated exocytosis A process of exocytosis in which soluble proteins and other substances are initially stored in secretory vesicles for later release. It is found mainly in cells that are specialized for secreting products such as hormones, neurotransmitters, or digestive enzymes rapidly on demand.
regulation of anion transport Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of endocytic recycling Any process that modulates the frequency, rate or extent of endocytic recycling.
regulation of protein localization to cell surface Any process that modulates the frequency, rate or extent of protein localization to the cell surface.
transferrin transport The directed movement of transferrin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
vesicle-mediated transport A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2TA29 RAB11A Ras-related protein Rab-11A Bos taurus (Bovine) PR
Q3MHP2 RAB11B Ras-related protein Rab-11B Bos taurus (Bovine) PR
Q5ZJN2 RAB11A Ras-related protein Rab-11A Gallus gallus (Chicken) PR
P62490 RAB11A Ras-related protein Rab-11A Canis lupus familiaris (Dog) (Canis familiaris) PR
Q8WUD1 RAB2B Ras-related protein Rab-2B Homo sapiens (Human) PR
P61019 RAB2A Ras-related protein Rab-2A Homo sapiens (Human) PR
P20338 RAB4A Ras-related protein Rab-4A Homo sapiens (Human) PR
P61018 RAB4B Ras-related protein Rab-4B Homo sapiens (Human) PR
P62491 RAB11A Ras-related protein Rab-11A Homo sapiens (Human) PR
P62492 Rab11a Ras-related protein Rab-11A Mus musculus (Mouse) PR
P46638 Rab11b Ras-related protein Rab-11B Mus musculus (Mouse) PR
Q52NJ1 RAB11A Ras-related protein Rab-11A Sus scrofa (Pig) PR
P62494 Rab11a Ras-related protein Rab-11A Rattus norvegicus (Rat) PR
O35509 Rab11b Ras-related protein Rab-11B Rattus norvegicus (Rat) PR
O04486 RABA2A Ras-related protein RABA2a Arabidopsis thaliana (Mouse-ear cress) PR
Q9FE79 RABA4C Ras-related protein RABA4c Arabidopsis thaliana (Mouse-ear cress) PR
Q9LH50 RABA4D Ras-related protein RABA4d Arabidopsis thaliana (Mouse-ear cress) PR
Q9LNK1 RABA3 Ras-related protein RABA3 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LNW1 RABA2B Ras-related protein RABA2b Arabidopsis thaliana (Mouse-ear cress) PR
O49513 RABA1E Ras-related protein RABA1e Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MGTRDDEYDY LFKVVLIGDS GVGKSNLLSR FTRNEFNLES KSTIGVEFAT RSIQVDGKTI
70 80 90 100 110 120
KAQIWDTAGQ ERYRAITSAY YRGAVGALLV YDIAKHLTYE NVERWLKELR DHADSNIVIM
130 140 150 160 170 180
LVGNKSDLRH LRAVPTDEAR AFAEKNNLSF IETSALDSTN VEEAFKNILT EIYRIVSQKQ
190 200 210
IADRAAHDES PGNNVVDISV PPTTDGQKPN KLQCCQNL