Q14847
Gene name |
LASP1 (MLN50) |
Protein name |
LIM and SH3 domain protein 1 |
Names |
LASP-1, Metastatic lymph node gene 50 protein, MLN 50 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3927 |
EC number |
|
Protein Class |
|
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 |
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 |