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

2 structures for Q14847

Entry ID Method Resolution Chain Position Source
3I35 X-ray 140 A A 202-261 PDB
AF-Q14847-F1 Predicted AlphaFoldDB

169 variants for Q14847

Variant ID(s) Position Change Description Diseaes Association Provenance
rs775146501
CA8526712
3 P>S No ClinGen
ExAC
gnomAD
CA8526714
rs763719175
6 A>T No ClinGen
ExAC
gnomAD
CA398794397
rs1215161687
7 R>Q No ClinGen
TOPMed
rs773847283
CA8526715
9 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773847283
CA8526716
9 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs767991655
CA8526717
12 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8526718
rs750816831
14 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1266304412
CA398794684
17 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 22 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398797240
rs1397391463
31 H>R No ClinGen
TOPMed
TCGA novel 33 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398797258
rs1463495033
33 E>K No ClinGen
TOPMed
CA398797337
rs1338757796
38 T>I No ClinGen
gnomAD
rs1167673173
CA398797511
47 Y>S No ClinGen
TOPMed
rs745862833
CA8526744
48 E>K No ClinGen
ExAC
gnomAD
rs1219560733
CA398797651
53 C>S No ClinGen
gnomAD
rs201222670
CA8526745
54 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8526746
rs779939948
55 A>S No ClinGen
ExAC
gnomAD
CA398797691
rs779939948
55 A>T No ClinGen
ExAC
gnomAD
rs1450523315
CA398797705
COSM186116
55 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1598110043
CA398801346
65 V>A No ClinGen
Ensembl
CA8526774
rs746452006
69 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1367862145
CA398801398
73 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA290348517
rs191762190
75 K>R No ClinGen
1000Genomes
rs1567698458
CA398801416
76 Q>* No ClinGen
Ensembl
rs1351843364
CA398801447
80 L>I No ClinGen
TOPMed
rs1385782338
CA398801462
82 S>G No ClinGen
gnomAD
CA8526776
rs776937950
COSM417567
83 Q>* Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA398783495
rs950459854
85 R>C No ClinGen
gnomAD
rs950459854
CA290341037
85 R>G No ClinGen
gnomAD
rs1567700593
CA398783522
87 K>R No ClinGen
Ensembl
rs1334244431
CA398783543
88 E>V No ClinGen
TOPMed
rs1004237588
CA290341038
93 N>S No ClinGen
TOPMed
CA398783729
rs1382523808
97 G>C No ClinGen
TOPMed
rs1226333009
CA398783813
100 V>I No ClinGen
TOPMed
gnomAD
rs1280405349
CA398783846
101 V>E No ClinGen
gnomAD
rs1198134743
CA398783849
102 A>T No ClinGen
gnomAD
CA290341041
rs780162081
104 T>M No ClinGen
TOPMed
gnomAD
rs1237348127
CA398783983
106 E>K No ClinGen
gnomAD
rs1482520945
CA398784058
108 Q>* No ClinGen
gnomAD
rs1425393927
CA398784141
111 K>R No ClinGen
gnomAD
CA398784185
rs1477923925
113 T>A No ClinGen
gnomAD
rs1169460584
CA398784230
114 Q>L No ClinGen
gnomAD
CA290341060
rs999729187
115 D>Y No ClinGen
Ensembl
rs1395862785
CA398790705
120 I>L No ClinGen
TOPMed
gnomAD
TCGA novel 121 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398790751
rs1311412575
122 Y>H No ClinGen
gnomAD
CA398790772
rs1342730772
123 H>N No ClinGen
gnomAD
CA290355119
rs895231634
130 R>C No ClinGen
gnomAD
rs199579508
CA8526828
130 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8526829
rs749988404
131 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1209938913
CA398791053
133 P>L No ClinGen
gnomAD
rs755621366
CA290355132
134 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA290355139
rs755117655
CA398791116
135 G>R No ClinGen
TOPMed
gnomAD
rs779695951
CA8526831
136 G>C No ClinGen
ExAC
gnomAD
CA8526833
rs755476623
137 E>Q No ClinGen
ExAC
gnomAD
CA290355151
rs968078826
138 G>V No ClinGen
Ensembl
CA8526836
rs772214083
139 M>I No ClinGen
ExAC
gnomAD
rs201941467
CA290355167
139 M>R No ClinGen
Ensembl
CA8526835
rs151189344
139 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8526837
rs777903945
140 E>G No ClinGen
ExAC
gnomAD
rs1172266377
CA398791239
140 E>K No ClinGen
TOPMed
gnomAD
CA8526838
rs747103046
141 P>S No ClinGen
ExAC
gnomAD
rs776689372
CA8526840
143 R>C No ClinGen
ExAC
gnomAD
CA8526841
rs762918588
143 R>H No ClinGen
ExAC
gnomAD
CA8526843
rs768616192
144 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs761633094
CA8526844
144 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8526842
rs768616192
144 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8526845
rs61739902
145 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8526847
rs750041565
146 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs755457528
CA398792546
149 G>C No ClinGen
ExAC
gnomAD
CA8526851
rs755457528
149 G>S No ClinGen
ExAC
gnomAD
CA8526852
rs779434714
150 S>G No ClinGen
ExAC
gnomAD
rs1420751062
CA398792704
153 R>Q No ClinGen
TOPMed
gnomAD
rs372318670
CA8526853
153 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398792731
rs778100520
154 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8526855
rs778100520
154 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758729512
CA8526854
154 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771111886
CA8526857
155 P>A No ClinGen
ExAC
gnomAD
rs1398376554
CA398792891
158 Q>E No ClinGen
gnomAD
CA398792898
rs1301234050
158 Q>R No ClinGen
gnomAD
rs141965663
CA290355246
159 Q>* No ClinGen
ESP
TOPMed
CA8526859
rs781298203
160 Q>H No ClinGen
ExAC
gnomAD
CA290355252
rs909629195
161 P>S No ClinGen
Ensembl
CA8526860
rs745915600
COSM376662
162 H>Y lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8526861
rs768510382
163 H>N No ClinGen
ExAC
gnomAD
rs774280750
CA8526862
163 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs774280750
CA8526863
163 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266195752
CA398793066
165 P>A No ClinGen
gnomAD
CA8526864
rs771967177
165 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1240622860
CA398793095
166 T>A No ClinGen
gnomAD
CA398793128
rs1440812116
166 T>I No ClinGen
TOPMed
gnomAD
CA398793120
rs1440812116
166 T>S No ClinGen
TOPMed
gnomAD
rs189899021
CA8526866
169 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398793638
rs1598122900
172 Q>R No ClinGen
Ensembl
rs746812416
CA8526904
174 P>T No ClinGen
ExAC
gnomAD
rs145728465
CA8526905
178 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1327225752
COSM560531
CA398793845
180 A>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1327225752
CA398793843
180 A>T No ClinGen
TOPMed
gnomAD
rs1214385228
CA398793866
181 Q>* No ClinGen
TOPMed
rs1430153450
CA398793872
181 Q>R No ClinGen
gnomAD
CA8526908
rs570515212
183 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs775089350
CA8526909
184 G>D No ClinGen
ExAC
gnomAD
CA398793932
rs1320783445
184 G>S No ClinGen
TOPMed
gnomAD
CA290355783
rs933341626
185 G>D No ClinGen
Ensembl
rs1598122959
CA919837211
186 Y>* No ClinGen
Ensembl
rs764593162
CA8526911
186 Y>* No ClinGen
ExAC
CA290355790
rs1050836075
187 K>Q No ClinGen
Ensembl
rs1346244264
CA398794041
187 K>R No ClinGen
gnomAD
rs1598122967
CA398794091
188 E>G No ClinGen
Ensembl
CA8526912
rs774786306
190 A>T No ClinGen
ExAC
gnomAD
CA398794191
rs1447188951
191 A>P No ClinGen
TOPMed
gnomAD
CA290355798
rs889386404
191 A>V No ClinGen
Ensembl
CA398794235
rs1239885165
193 V>A No ClinGen
gnomAD
CA398794237
rs1194193321
194 S>P No ClinGen
gnomAD
CA8526913
rs762297618
194 S>Y No ClinGen
ExAC
gnomAD
rs767994718
CA8526914
195 I>L No ClinGen
ExAC
gnomAD
rs149423570
CA8526916
195 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767994718
CA8526915
195 I>V No ClinGen
ExAC
gnomAD
CA8526917
rs150234754
197 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8526918
rs753952992
197 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs779122230
CA8526920
199 A>T No ClinGen
ExAC
gnomAD
rs751612653
CA8526921
200 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs751612653
CA398794413
200 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1369405563
CA398794432
201 G>S No ClinGen
TOPMed
gnomAD
rs757228800
CA8526922
202 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA398794520
CA398794525
rs1350353736
204 G>R No ClinGen
TOPMed
gnomAD
CA290357701
rs975363624
206 R>Q No ClinGen
Ensembl
CA398797734
rs1325306453
208 R>H No ClinGen
gnomAD
COSM1195558
CA290357731
rs998335975
209 A>V lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs17856397
CA290357752
210 V>A No ClinGen
Ensembl
CA398797783
rs1320968178
210 V>L No ClinGen
TOPMed
CA290357763
rs1048609858
212 D>N No ClinGen
TOPMed
CA398797964
rs1338054828
214 S>I No ClinGen
TOPMed
CA290357771
rs371774517
216 A>V No ClinGen
ESP
TOPMed
rs1426740416
COSM436475
CA398798070
217 D>A Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA398798095
rs910068298
217 D>E No ClinGen
TOPMed
gnomAD
rs1261144597
COSM978513
CA398798060
217 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA398798101
rs766205981
218 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8526964
rs766205981
218 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA290357796
rs17850916
220 E>A No ClinGen
Ensembl
CA8526965
rs753578708
221 V>I No ClinGen
ExAC
gnomAD
rs1362797661
CA398798294
222 S>F No ClinGen
gnomAD
CA398798503
rs1380025676
227 D>V No ClinGen
gnomAD
TCGA novel 227 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1305612413
CA398798544
228 T>A No ClinGen
gnomAD
CA8526970
rs367911500
230 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398798687
rs747508790
231 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1243601222
CA398798682
231 N>S No ClinGen
TOPMed
TCGA novel 234 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1338240925
CA398798902
236 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1260357693
CA398798956
237 D>N No ClinGen
TOPMed
gnomAD
CA398798996
rs1215608849
238 G>S No ClinGen
gnomAD
rs1254220401
CA398799075
240 M>L No ClinGen
gnomAD
CA8526975
rs770146375
240 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA290357845
rs1002551655
243 T>M No ClinGen
gnomAD
CA8526979
rs199894168
246 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs375075155
CA8526980
246 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766261412
CA8526981
248 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8526983
rs754705774
249 D>N No ClinGen
ExAC
gnomAD
CA8526985
rs752358552
250 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs765000625
CA8526984
250 T>S No ClinGen
ExAC
gnomAD
rs1315315803
CA398800166
251 G>E No ClinGen
gnomAD
TCGA novel 251 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 252 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146092528
CA8526988
254 P>L No ClinGen
ESP
ExAC
gnomAD
CA398800386
rs746248272
258 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8526991
rs746248272
258 V>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 259 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q14847

5 regional properties for Q14847

Type Name Position InterPro Accession
repeat Nebulin repeat 61 - 95 IPR000900-1
repeat Nebulin repeat 97 - 131 IPR000900-2
domain SH3 domain 202 - 261 IPR001452
domain Zinc finger, LIM-type 3 - 63 IPR001781
domain Lasp1, SH3 domain 203 - 261 IPR035630

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cell cortex
  • Cytoplasm, cytoskeleton
  • Associated with the F-actin rich cortical cytoskeleton
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).

4 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
cadherin binding Binding to cadherin, a type I membrane protein involved in cell adhesion.
ion transmembrane transporter activity Enables the transfer of an ion from one side of a membrane to the other.
metal ion binding Binding to a metal ion.

1 GO annotations of biological process

Name Definition
ion transport The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

4 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3B7M5 LASP1 LIM and SH3 domain protein 1 Bos taurus (Bovine) PR
Q61792 Lasp1 LIM and SH3 domain protein 1 Mus musculus (Mouse) PR
Q99MZ8 Lasp1 LIM and SH3 domain protein 1 Rattus norvegicus (Rat) PR
P34416 F42H10.3 LIM and SH3 domain protein F42H10.3 Caenorhabditis elegans PR
10 20 30 40 50 60
MNPNCARCGK IVYPTEKVNC LDKFWHKACF HCETCKMTLN MKNYKGYEKK PYCNAHYPKQ
70 80 90 100 110 120
SFTMVADTPE NLRLKQQSEL QSQVRYKEEF EKNKGKGFSV VADTPELQRI KKTQDQISNI
130 140 150 160 170 180
KYHEEFEKSR MGPSGGEGME PERRDSQDGS SYRRPLEQQQ PHHIPTSAPV YQQPQQQPVA
190 200 210 220 230 240
QSYGGYKEPA APVSIQRSAP GGGGKRYRAV YDYSAADEDE VSFQDGDTIV NVQQIDDGWM
250 260
YGTVERTGDT GMLPANYVEA I