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

1 structures for P31150

Entry ID Method Resolution Chain Position Source
AF-P31150-F1 Predicted AlphaFoldDB

153 variants for P31150

Variant ID(s) Position Change Description Diseaes Association Provenance
rs121434608
CA121621
RCV000012393
70 R>* Intellectual disability, X-linked 41 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001797587
rs121434607
CA121620
VAR_008130
RCV000012392
92 L>P Intellectual disability, X-linked 41 XLID41; causes reduced binding and recycling of RAB3A [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs369835365
RCV002315277
CA10562961
128 A>G Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1375956716
CA415203243
RCV000624361
138 R>W Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs782755945
RCV001260618
CA415203994
193 R>L Intellectual disability [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2068750338
RCV001253206
263 G>missing Intellectual disability, X-linked 41 [ClinVar] Yes ClinVar
dbSNP
RCV002316815
CA415206952
rs1569553456
289 D>H Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001252003
rs2068755805
354 S>missing Intellectual disability, X-linked 41 [ClinVar] Yes ClinVar
dbSNP
RCV001253739
RCV001255375
rs2068757385
392 D>T* Intellectual disability Intellectual disability, X-linked 41 [ClinVar] Yes ClinVar
dbSNP
rs398122814
RCV000022824
396 S>missing Intellectual disability, X-linked 41 [ClinVar] Yes ClinVar
dbSNP
RCV000012394
CA121623
rs121434609
VAR_008131
423 R>P Intellectual disability, X-linked 41 XLID41 [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA16621261
rs1064796588
RCV001197554
RCV000478709
428 A>V Intellectual disability, X-linked 41 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs782709055
CA10562843
2 D>N No ClinGen
ExAC
gnomAD
TCGA novel 5 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781939489
CA10562844
8 I>V No ClinGen
ExAC
gnomAD
TCGA novel 9 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 12 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557197975
CA415198739
13 G>S No ClinGen
gnomAD
TCGA novel 17 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 24 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415201323
rs1426513830
37 P>H No ClinGen
TOPMed
CA10562894
rs782638600
41 G>A No ClinGen
ExAC
gnomAD
CA10562896
rs372327910
46 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA415201540
rs782473016
49 L>V No ClinGen
ExAC
rs782571802
CA10562924
54 K>Q No ClinGen
ExAC
gnomAD
rs782192899
CA10562925
55 R>H No ClinGen
ExAC
gnomAD
rs1557198301
CA415201939
61 G>E No ClinGen
gnomAD
CA10562926
rs199816411
63 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1483016125
CA415202015
64 E>G No ClinGen
TOPMed
CA16621260
RCV000482246
rs1064796769
65 S>L No ClinGen
ClinVar
dbSNP
gnomAD
TCGA novel 65 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415202035
RCV000503006
rs1557198307
65 S>T No ClinGen
ClinVar
Ensembl
dbSNP
rs1064796769
CA415202042
65 S>W No ClinGen
gnomAD
rs1236930706
CA415202105
68 R>G No ClinGen
TOPMed
CA10562929
rs782398267
69 G>S No ClinGen
ExAC
gnomAD
TCGA novel 71 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373515131
CA10562931
RCV000514221
76 L>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1232151642
CA415202311
78 P>S No ClinGen
TOPMed
rs1330317228
CA415202416
84 N>D No ClinGen
TOPMed
rs1557198351 85 G>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 86 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781969088
CA10562953
92 L>V No ClinGen
ExAC
gnomAD
CA415202751
rs1206505446
111 Y>C No ClinGen
TOPMed
CA10562957
rs782779627
112 K>E No ClinGen
ExAC
gnomAD
rs1557198365
RCV000499956
CA415202768
113 G>E No ClinGen
ClinVar
dbSNP
gnomAD
TCGA novel
rs782485883
CA10562959
114 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA10562958
rs781873561
114 G>C No ClinGen
ExAC
gnomAD
CA337298506
rs887682009
115 K>R No ClinGen
TOPMed
rs1557198533
CA415203206
133 G>A No ClinGen
gnomAD
CA415203225
rs1557198535
135 F>L No ClinGen
gnomAD
rs1557198536
CA415203227
136 E>Q No ClinGen
gnomAD
CA415203248
rs1557198539
139 R>C No ClinGen
gnomAD
rs782153547
CA415203264
141 R>H No ClinGen
ExAC
gnomAD
rs782153547
CA10562994
141 R>L No ClinGen
ExAC
gnomAD
CA415203314
rs1419794378
149 N>D No ClinGen
TOPMed
gnomAD
rs1419794378
CA415203313
149 N>H No ClinGen
TOPMed
gnomAD
CA415203319
rs1557198545
149 N>K No ClinGen
gnomAD
CA415203322
rs1557198548
150 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA415203345
rs1557198552
152 E>G No ClinGen
gnomAD
CA415203359
rs1180730896
153 N>S No ClinGen
TOPMed
TCGA novel 157 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA415203415
rs1557198562
157 T>S No ClinGen
gnomAD
CA415203436
RCV000498377
rs1557198566
158 F>S No ClinGen
ClinVar
Ensembl
dbSNP
CA415203472
rs782515310
161 V>F No ClinGen
ExAC
gnomAD
CA10563003
rs782515310
161 V>I No ClinGen
ExAC
gnomAD
CA415203470
rs782515310
161 V>L No ClinGen
ExAC
gnomAD
CA337299078
rs959323773
164 Q>H No ClinGen
Ensembl
rs1032352955
CA337299076
164 Q>P No ClinGen
TOPMed
CA10563005
rs782218380
165 T>A No ClinGen
ExAC
gnomAD
CA415203537
rs1346713482
165 T>S No ClinGen
TOPMed
rs1557198579
CA415203580
168 M>T No ClinGen
gnomAD
rs782493570
CA10563006
171 V>I No ClinGen
ExAC
gnomAD
CA415203626
rs1253930257
173 R>Q No ClinGen
TOPMed
rs782575041
COSM457113
CA10563007
173 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 178 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1557198588
CA415203727
179 Q>H No ClinGen
Ensembl
rs1557198592
CA415203754
181 V>I No ClinGen
gnomAD
CA10563012
rs782341404
182 I>T No ClinGen
ExAC
gnomAD
TCGA novel 188 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782348055
CA10563017
192 Y>C No ClinGen
1000Genomes
ExAC
rs1334602482
CA415203978
193 R>C No ClinGen
TOPMed
gnomAD
CA10563018
rs782755945
193 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA415204006
rs1557198602
194 T>N No ClinGen
gnomAD
rs782322629
CA10563037
205 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1326048690
CA415204523
206 V>I No ClinGen
TOPMed
gnomAD
rs868992491
COSM457114
CA415204601
208 R>H Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs782096197
CA10563039
212 Y>C No ClinGen
ExAC
CA10563040
rs782724839
218 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 219 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781868282
CA10563041
224 Y>C No ClinGen
ExAC
gnomAD
CA337299437
rs112686555
225 L>V No ClinGen
Ensembl
TCGA novel 240 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 248 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs11549300
CA10563062
256 D>N No ClinGen
ExAC
gnomAD
CA337300044
rs11549300
256 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 259 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10563064
rs782553556
260 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs782353238
CA337300052
263 G>S No ClinGen
Ensembl
rs1324100712
CA415206389
264 K>R No ClinGen
TOPMed
rs781807551
CA10563066
266 V>L No ClinGen
ExAC
gnomAD
CA10563087
rs782477424
276 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10563088
rs367767418
278 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10563089
rs781848542
287 I>V No ClinGen
ExAC
gnomAD
rs782594873
CA10563091
288 P>L No ClinGen
ExAC
gnomAD
rs1214056877
CA415206942
288 P>S No ClinGen
TOPMed
CA415206962
rs1557198938
289 D>G No ClinGen
gnomAD
CA415206976
rs1345871844
290 R>H No ClinGen
TOPMed
rs782607768
CA10563094
292 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs782493730
CA10563093
292 R>W No ClinGen
ExAC
gnomAD
rs1557198952
CA415207116
299 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs782030587
CA10563097
299 R>S No ClinGen
ExAC
CA415207257
rs1557198956
308 I>V No ClinGen
gnomAD
CA10563100
rs781917575
313 D>N No ClinGen
ExAC
gnomAD
rs868908537
CA415207377
314 A>D No ClinGen
Ensembl
rs782128887
CA10563102
314 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 327 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs782169795
CA415207758
336 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs782169795
CA10563127
336 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1557199031
CA415207793
337 I>M No ClinGen
gnomAD
CA337300778
rs983015889
339 Y>C No ClinGen
Ensembl
rs1458210975
CA415207916
345 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1557199037
CA415207923
345 A>V No ClinGen
gnomAD
CA10563131
rs782606377
350 I>V No ClinGen
ExAC
gnomAD
rs781819035
CA10563132
355 T>S No ClinGen
ExAC
gnomAD
CA10563133
rs150955632
360 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10563134
rs782629762
360 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs782289676
CA10563135
361 D>N No ClinGen
ExAC
gnomAD
CA415209793
rs1557199054
369 A>V No ClinGen
gnomAD
TCGA novel 370 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10563138
rs782346555
377 D>V No ClinGen
ExAC
gnomAD
rs782600356
CA10563154
381 V>M No ClinGen
ExAC
gnomAD
CA10563155
rs782263053
383 I>V No ClinGen
ExAC
gnomAD
CA337300988
rs782655354
387 Y>F No ClinGen
1000Genomes
gnomAD
CA415210146
rs1557199100
387 Y>H No ClinGen
gnomAD
CA415210198
rs1557199102
390 I>V No ClinGen
gnomAD
CA337301126
rs375181856
409 H>Q No ClinGen
ESP
TOPMed
rs1569553475
RCV000782056
CA415210632
413 T>A No ClinGen
ClinVar
Ensembl
dbSNP
CA415210661
rs1395798124
415 N>D No ClinGen
TOPMed
rs1557199126
CA415210683
416 D>N No ClinGen
gnomAD
rs1471022308
CA415210816
424 M>V No ClinGen
TOPMed
CA415210825
rs1557199133
425 A>T No ClinGen
gnomAD
CA415210836
rs1557199134
425 A>V No ClinGen
gnomAD
rs138939602
CA10563180
RCV001818897
RCV000930319
427 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA10563182
rs781915148
428 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1365920642
CA415210931
430 D>Y No ClinGen
TOPMed
CA10563183
rs782090801
434 M>V No ClinGen
ExAC
gnomAD
CA415211056
rs1603385587
435 K>N No ClinGen
Ensembl
CA337301188
rs1016702150
440 D>N No ClinGen
Ensembl
CA10563185
rs368376382
440 D>V No ClinGen
ESP
ExAC
gnomAD
rs1557199147
CA415211157
441 V>I No ClinGen
gnomAD
CA10563187
rs782788866
442 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA10563188
rs781807167
446 E>V No ClinGen
ExAC
gnomAD
rs1462312464
CA415211263
447 Q>* No ClinGen
TOPMed

1 associated diseases with P31150

[MIM: 300849]: Intellectual developmental disorder, X-linked 41 (XLID41)

A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:9620768, ECO:0000269|PubMed:9668174}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269|PubMed:9620768, ECO:0000269|PubMed:9668174}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P31150

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P31150

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Golgi apparatus, trans-Golgi network
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
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.
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.
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.
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.
myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system.
neuronal cell body The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

4 GO annotations of molecular function

Name Definition
GDP-dissociation inhibitor activity Prevents the dissociation of GDP from a GTPase, thereby preventing GTP from binding.
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
Rab GDP-dissociation inhibitor activity Prevents the dissociation of GDP from the small GTPase Rab, thereby preventing GTP from binding.
small GTPase binding Binding to a small monomeric GTPase.

8 GO annotations of biological process

Name Definition
negative regulation of axonogenesis Any process that stops, prevents, or reduces the frequency, rate or extent of axonogenesis.
negative regulation of protein targeting to membrane Any process that decreases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein.
positive regulation of axon extension Any process that activates or increases the frequency, rate or extent of axon extension.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
Rab protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Rab family of proteins switching to a GTP-bound active state.
response to calcium ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
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.

13 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P39958 GDI1 Rab GDP-dissociation inhibitor Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
P50397 GDI2 Rab GDP dissociation inhibitor beta Bos taurus (Bovine) PR
P21856 GDI1 Rab GDP dissociation inhibitor alpha Bos taurus (Bovine) PR
P60028 GDI1 Rab GDP dissociation inhibitor alpha Pan troglodytes (Chimpanzee) PR
O97555 GDI1 Rab GDP dissociation inhibitor alpha Canis lupus familiaris (Dog) (Canis familiaris) PR
P50395 GDI2 Rab GDP dissociation inhibitor beta Homo sapiens (Human) PR
Q61598 Gdi2 Rab GDP dissociation inhibitor beta Mus musculus (Mouse) PR
P50396 Gdi1 Rab GDP dissociation inhibitor alpha Mus musculus (Mouse) PR
P50398 Gdi1 Rab GDP dissociation inhibitor alpha Rattus norvegicus (Rat) PR
P50399 Gdi2 Rab GDP dissociation inhibitor beta Rattus norvegicus (Rat) PR
O24653 GDI2 Guanosine nucleotide diphosphate dissociation inhibitor 2 Arabidopsis thaliana (Mouse-ear cress) PR
Q9LXC0 At5g09550 Guanosine nucleotide diphosphate dissociation inhibitor At5g09550 Arabidopsis thaliana (Mouse-ear cress) PR
Q96254 GDI1 Guanosine nucleotide diphosphate dissociation inhibitor 1 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDEEYDVIVL GTGLTECILS GIMSVNGKKV LHMDRNPYYG GESSSITPLE ELYKRFQLLE
70 80 90 100 110 120
GPPESMGRGR DWNVDLIPKF LMANGQLVKM LLYTEVTRYL DFKVVEGSFV YKGGKIYKVP
130 140 150 160 170 180
STETEALASN LMGMFEKRRF RKFLVFVANF DENDPKTFEG VDPQTTSMRD VYRKFDLGQD
190 200 210 220 230 240
VIDFTGHALA LYRTDDYLDQ PCLETVNRIK LYSESLARYG KSPYLYPLYG LGELPQGFAR
250 260 270 280 290 300
LSAIYGGTYM LNKPVDDIIM ENGKVVGVKS EGEVARCKQL ICDPSYIPDR VRKAGQVIRI
310 320 330 340 350 360
ICILSHPIKN TNDANSCQII IPQNQVNRKS DIYVCMISYA HNVAAQGKYI AIASTTVETT
370 380 390 400 410 420
DPEKEVEPAL ELLEPIDQKF VAISDLYEPI DDGCESQVFC SCSYDATTHF ETTCNDIKDI
430 440
YKRMAGTAFD FENMKRKQND VFGEAEQ