Q7LC44
Gene name |
ARC |
Protein name |
Activity-regulated cytoskeleton-associated protein |
Names |
hArc, Activity-regulated gene 3.1 protein homolog, ARC/ARG3.1, Arg3.1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23237 |
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
7 structures for Q7LC44
305 variants for Q7LC44
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1270568526 CA372384285 |
4 | D>E | No |
ClinGen gnomAD |
|
|
rs1426065219 CA372384266 |
6 | R>W | No |
ClinGen gnomAD |
|
|
rs587734255 CA372384227 |
8 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752423065 CA4903020 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965493850 CA187425665 |
11 | L>V | No |
ClinGen Ensembl |
|
|
CA372384133 rs1389428507 |
15 | P>L | No |
ClinGen TOPMed |
|
|
rs1249759779 CA372384103 |
17 | P>L | No |
ClinGen gnomAD |
|
|
CA4903018 rs756282396 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1340010362 CA372384101 |
18 | R>G | No |
ClinGen gnomAD |
|
|
rs750662635 CA4903017 |
18 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs767605928 CA4903016 |
19 | G>C | No |
ClinGen ExAC |
|
|
CA372384085 rs1230875412 |
19 | G>D | No |
ClinGen gnomAD |
|
|
CA372384080 rs1283578932 |
20 | G>R | No |
ClinGen gnomAD |
|
|
CA372384049 rs1587491909 |
21 | Q>L | No |
ClinGen Ensembl |
|
|
rs1587491901 CA372384034 |
22 | V>G | No |
ClinGen Ensembl |
|
|
rs752097434 CA4903014 |
22 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1229595790 CA372383979 |
26 | N>S | No |
ClinGen gnomAD |
|
|
CA372383964 rs1295390020 |
27 | V>M | No |
ClinGen TOPMed |
|
|
rs1033218604 CA187425653 |
28 | I>V | No |
ClinGen TOPMed |
|
|
CA372383912 rs1318506929 |
30 | Q>K | No |
ClinGen gnomAD |
|
|
CA4903011 rs775945249 |
37 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372383648 rs1428823666 |
38 | M>I | No |
ClinGen gnomAD |
|
|
CA372383678 rs1468616465 |
38 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA372383671 rs1468616465 |
38 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA187425633 rs1000029399 |
39 | L>R | No |
ClinGen TOPMed |
|
|
CA187425619 rs1010180504 |
40 | E>* | No |
ClinGen Ensembl |
|
|
CA372383561 rs1177372788 |
42 | V>M | No |
ClinGen gnomAD |
|
|
rs1438316775 CA372383507 |
44 | R>Q | No |
ClinGen gnomAD |
|
|
rs1181187493 CA372383515 |
44 | R>W | No |
ClinGen gnomAD |
|
|
CA372383481 rs1468904354 |
45 | T>M | No |
ClinGen TOPMed |
|
|
rs776211237 CA4903008 |
47 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372383453 rs776211237 |
47 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4903007 rs138879893 |
49 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4903004 rs771957879 |
53 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1278372103 CA372383336 |
54 | S>F | No |
ClinGen gnomAD |
|
|
rs1239211385 CA372383291 |
56 | Q>P | No |
ClinGen gnomAD |
|
|
CA4903003 rs748107047 |
57 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA372383253 rs1416639608 |
58 | E>G | No |
ClinGen TOPMed |
|
|
rs1451137469 CA372383229 COSM3698861 |
59 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4903001 rs754809780 |
65 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs371846206 CA187425564 |
65 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1470579436 CA372383095 |
66 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4902999 rs757517795 |
66 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1183323 CA372383071 rs1587491773 |
68 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1181633544 CA372383045 |
69 | G>A | No |
ClinGen gnomAD |
|
|
CA372383032 rs1443955798 |
70 | K>T | No |
ClinGen gnomAD |
|
|
CA4902997 rs751531647 |
72 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283180139 CA372382936 |
74 | N>D | No |
ClinGen gnomAD |
|
|
rs145645912 CA4902995 |
77 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372382871 rs764286977 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4902996 rs764286977 |
77 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372382833 rs1563776832 |
78 | Y>F | No |
ClinGen Ensembl |
|
|
CA372382857 rs1355135629 |
78 | Y>H | No |
ClinGen TOPMed |
|
|
CA4902993 rs765690457 |
79 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753294130 CA4902994 |
79 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4902992 rs759874303 |
81 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA372382750 rs1454966876 |
82 | S>R | No |
ClinGen gnomAD |
|
|
CA4902991 rs777065602 |
84 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1401531397 CA372382672 |
85 | Q>H | No |
ClinGen gnomAD |
|
|
rs1387167859 CA372382661 |
86 | R>C | No |
ClinGen gnomAD |
|
|
CA372382646 rs1335513085 |
87 | W>G | No |
ClinGen TOPMed |
|
|
rs770423305 CA4902990 |
89 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372382592 rs770423305 |
89 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937053011 CA187425509 |
90 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA372382562 rs1186822315 |
91 | I>V | No |
ClinGen TOPMed |
|
|
rs1474326952 CA372382513 |
93 | A>T | No |
ClinGen gnomAD |
|
|
CA372382493 rs1474056546 |
94 | C>R | No |
ClinGen TOPMed |
|
|
rs1193395488 CA372382416 |
97 | R>C | No |
ClinGen gnomAD |
|
|
CA372382412 rs1218485440 |
97 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1218485440 CA372382406 |
97 | R>L | No |
ClinGen TOPMed |
|
|
rs778496793 CA187425508 |
98 | C>S | No |
ClinGen Ensembl |
|
|
CA372382266 rs771620864 |
103 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4902987 rs771620864 |
103 | A>T | Variant assessed as Somatic; 5.501e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372382218 rs1359337112 |
106 | E>K | No |
ClinGen gnomAD |
|
|
CA372382181 rs587756427 |
107 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA187425491 rs587756427 |
107 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372382171 rs1248577625 |
107 | R>H | No |
ClinGen gnomAD |
|
|
CA4902986 rs587756427 |
107 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372382149 rs1360259714 |
108 | W>* | No |
ClinGen gnomAD |
|
|
rs1269999644 CA372381243 |
110 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343876488 CA372381228 |
111 | R>C | No |
ClinGen TOPMed |
|
|
CA4902985 COSM1455264 rs774341447 |
111 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA372381223 rs774341447 |
111 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902984 rs199521561 |
113 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1301368690 CA372381201 |
113 | M>K | No |
ClinGen gnomAD |
|
|
rs369013371 CA187425471 |
116 | W>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA372381117 rs1295306970 |
120 | F>V | No |
ClinGen TOPMed |
|
|
rs1356202934 CA372381094 |
121 | Y>C | No |
ClinGen TOPMed |
|
|
COSM1489064 CA372381048 rs1266406700 |
125 | R>C | Variant assessed as Somatic; 7.967e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1198036851 CA372381044 |
125 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372381015 rs1270448410 |
128 | D>N | No |
ClinGen gnomAD |
|
|
CA372380978 rs1279407742 |
133 | T>R | No |
ClinGen TOPMed |
|
|
CA187425425 rs1036190729 |
135 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372380961 rs1215593201 |
136 | K>R | No |
ClinGen gnomAD |
|
|
CA372380952 rs1469183116 |
137 | Y>C | No |
ClinGen TOPMed |
|
|
rs758614505 CA4902978 |
141 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758614505 CA372380930 |
141 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372380918 rs1223166061 |
142 | E>D | No |
ClinGen gnomAD |
|
|
rs753240952 CA4902977 |
143 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305047419 CA372380910 |
144 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372380909 rs1305047419 |
144 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372380904 rs867095273 |
145 | R>C | No |
ClinGen gnomAD |
|
|
CA372380900 rs1563776753 |
145 | R>L | No |
ClinGen Ensembl |
|
|
rs1563776753 CA372380901 |
145 | R>P | No |
ClinGen Ensembl |
|
|
CA187425384 rs867095273 |
145 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1563776747 CA372380896 |
146 | H>R | No |
ClinGen Ensembl |
|
|
rs765780465 CA4902976 |
146 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 147 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931618958 CA372380885 |
148 | V>F | No |
ClinGen gnomAD |
|
|
CA187425378 rs931618958 |
148 | V>I | No |
ClinGen gnomAD |
|
|
CA187425355 rs922561519 |
150 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1174978220 CA372380858 |
153 | G>W | No |
ClinGen gnomAD |
|
|
rs766788440 CA372380849 |
154 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766788440 CA4902973 |
154 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372380844 rs1563776740 |
155 | P>R | No |
ClinGen Ensembl |
|
|
rs1375598780 CA372380835 |
156 | E>D | No |
ClinGen TOPMed |
|
|
rs1240842464 CA372380829 |
157 | S>N | No |
ClinGen TOPMed |
|
|
CA4902970 rs767012127 |
158 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA372380794 rs1223072865 |
161 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4902969 rs761373281 |
161 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303498205 CA372380791 |
162 | A>E | No |
ClinGen gnomAD |
|
|
rs773867649 CA4902968 |
162 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs2234911 CA372380782 |
163 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1372504701 CA372380788 |
163 | D>N | No |
ClinGen gnomAD |
|
|
CA4902967 rs768517487 |
163 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403566740 CA372380779 |
164 | G>C | No |
ClinGen gnomAD |
|
|
rs1436919893 CA372380778 |
164 | G>D | No |
ClinGen TOPMed |
|
|
rs769666928 CA4902965 |
165 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4902963 rs747190210 |
166 | D>G | No |
ClinGen ExAC |
|
|
CA372380768 rs1201978742 |
166 | D>N | No |
ClinGen TOPMed |
|
|
rs1469934532 CA372380757 |
167 | Y>S | No |
ClinGen gnomAD |
|
|
rs868521724 CA187425233 |
168 | T>I | No |
ClinGen Ensembl |
|
|
rs587657838 CA187425251 |
168 | T>P | No |
ClinGen 1000Genomes |
|
|
CA4902960 rs748171375 |
169 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1178233108 CA372380720 |
173 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA372380722 rs1178233108 |
173 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372380717 rs1436849056 |
173 | A>V | No |
ClinGen gnomAD |
|
|
CA372380707 rs1442100907 |
175 | T>N | No |
ClinGen gnomAD |
|
|
rs865823047 CA187425185 |
175 | T>P | No |
ClinGen Ensembl |
|
|
rs779165064 CA4902959 |
176 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4902958 rs755391698 |
177 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766622368 CA4902957 |
178 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs766622368 CA4902956 |
178 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262375538 CA372380683 |
180 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372380684 rs1262375538 |
180 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA372380678 rs1316368950 |
181 | G>S | No |
ClinGen gnomAD |
|
|
CA4902952 rs761462672 |
182 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199735061 CA4902948 |
185 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286798419 CA372380630 |
188 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1286798419 CA372380628 |
188 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA372380627 rs1345207161 |
189 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372380621 rs1160664504 |
190 | E>K | No |
ClinGen gnomAD |
|
|
CA187425149 rs969355649 |
194 | Y>C | No |
ClinGen Ensembl |
|
|
CA372380582 rs1422057886 |
195 | Q>* | No |
ClinGen gnomAD |
|
|
rs199916173 CA372380564 |
196 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199916173 CA4902946 |
196 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372380569 rs1383993121 |
196 | P>S | No |
ClinGen gnomAD |
|
|
rs1258733125 CA372380547 |
197 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485671243 CA372380518 |
200 | G>D | No |
ClinGen gnomAD |
|
|
CA4902945 rs776582573 |
200 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902944 rs140481166 |
202 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA372380482 CA187425133 rs372418087 |
203 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs748412721 CA4902943 |
204 | Q>E | No |
ClinGen ExAC |
|
|
rs1250593894 CA372380465 |
204 | Q>H | No |
ClinGen TOPMed |
|
|
CA4902942 rs768828786 |
204 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4902941 rs768828786 |
204 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA372380448 rs1291008401 |
205 | P>L | No |
ClinGen gnomAD |
|
|
CA187425119 rs749743916 |
207 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902940 rs749743916 |
207 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372380406 rs1336602149 |
209 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4902937 rs750725106 |
210 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4902936 rs781555606 |
212 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372380323 rs1421830302 |
215 | E>* | No |
ClinGen TOPMed |
|
|
rs751266915 CA4902934 |
217 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs763502872 CA4902933 |
218 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372380218 rs1370501987 |
223 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM205523 rs368167896 CA372380142 |
229 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4902930 rs201562490 |
231 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA372380118 rs1392343612 |
231 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324081004 CA372380091 |
233 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 239 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4902926 rs201238711 |
240 | S>A | No |
ClinGen ExAC |
|
|
rs74348901 CA187425012 |
240 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 240 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4902925 rs774691009 |
241 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA372379981 rs1489426720 |
241 | Q>R | No |
ClinGen gnomAD |
|
|
CA372379928 rs1428311753 |
245 | H>Y | No |
ClinGen TOPMed |
|
|
CA187425006 rs112306578 |
248 | G>E | No |
ClinGen gnomAD |
|
|
rs1361680452 CA372379883 |
248 | G>R | No |
ClinGen gnomAD |
|
|
CA372379670 rs1221342648 |
261 | V>L | No |
ClinGen gnomAD |
|
|
rs1221342648 CA372379674 |
261 | V>M | No |
ClinGen gnomAD |
|
|
CA372379640 rs1344266287 |
262 | K>N | No |
ClinGen gnomAD |
|
|
CA4902920 rs746402173 |
263 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781518844 CA4902919 |
272 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902915 rs758002181 |
276 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751211937 CA4902917 |
276 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1479586907 CA372379387 |
277 | G>D | No |
ClinGen gnomAD |
|
|
rs370545261 CA4902914 |
277 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563776587 CA372379372 |
278 | T>M | No |
ClinGen Ensembl |
|
|
CA372379309 rs1191566837 |
284 | I>N | No |
ClinGen TOPMed |
|
|
CA372379286 rs988806388 |
286 | R>G | No |
ClinGen gnomAD |
|
|
rs1480815830 CA372379283 |
286 | R>H | No |
ClinGen gnomAD |
|
|
rs988806388 COSM1096848 CA187424934 |
286 | R>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1201319514 CA372379269 |
287 | E>G | No |
ClinGen gnomAD |
|
|
CA4902908 rs772885468 |
289 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA4902909 rs760612016 |
289 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763103743 CA4902906 |
291 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372379186 rs1468425944 |
294 | Q>E | No |
ClinGen gnomAD |
|
|
rs746365444 CA4902903 |
294 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA372379138 rs1587491153 |
297 | P>L | No |
ClinGen Ensembl |
|
|
CA372379147 rs1479069599 |
297 | P>T | No |
ClinGen gnomAD |
|
|
CA372379125 rs1180933281 |
299 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 301 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 303 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758031109 CA4902898 |
304 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372379057 rs587767434 |
304 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA187424796 rs587767434 |
304 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1320110923 CA372379044 |
305 | K>R | No |
ClinGen TOPMed |
|
|
CA372379036 rs1460591873 |
306 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 307 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 310 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372378932 rs1171388183 |
314 | V>A | No |
ClinGen Ensembl |
|
|
rs753822447 CA4902895 |
314 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753822447 CA4902894 |
314 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs587711195 CA372378911 |
315 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs756131769 CA4902892 |
316 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4902890 rs767244388 |
317 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs887722830 CA187424744 |
318 | E>K | No |
ClinGen Ensembl |
|
|
rs763198702 CA372378738 |
324 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372378713 rs1203872774 |
326 | V>L | No |
ClinGen TOPMed |
|
|
rs1563776532 CA372378690 |
327 | G>D | No |
ClinGen Ensembl |
|
|
rs1288649487 CA372378619 |
331 | P>L | No |
ClinGen TOPMed |
|
|
CA372378632 rs1382268510 |
331 | P>T | No |
ClinGen gnomAD |
|
|
rs775636351 CA372378588 |
333 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775636351 CA4902888 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902886 rs759548098 |
335 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA187424728 rs776707820 |
335 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4902885 rs776707820 |
335 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902887 rs759548098 |
335 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs202009326 COSM50582 CA4902882 |
338 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4902881 rs754781408 |
338 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202009326 CA372378494 |
338 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747822194 CA4902880 |
339 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 341 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748747847 CA4902877 |
343 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs926055055 CA187424702 |
348 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 348 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372378329 rs1452919121 |
349 | I>N | No |
ClinGen Ensembl |
|
|
rs776073711 CA4902874 |
353 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1359107496 CA372378256 |
353 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040102351 CA187424689 |
354 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372378186 rs1450390676 |
356 | Q>* | No |
ClinGen gnomAD |
|
|
CA372378172 rs1310712023 |
357 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372378014 rs1396235029 |
363 | A>V | No |
ClinGen TOPMed |
|
|
COSM2867622 CA4902869 rs759778933 |
364 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4902868 rs753876529 |
365 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4902867 rs373236073 |
365 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA187424652 rs373236073 |
365 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772479980 CA4902864 |
367 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372377955 rs1439783366 |
367 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4902863 rs762016127 |
369 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488960239 CA372377883 |
371 | P>L | No |
ClinGen gnomAD |
|
|
CA4902859 rs779675780 |
372 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4902860 rs376687795 |
372 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376687795 CA187424627 |
372 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4902858 rs769231970 |
373 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs372892204 CA4902857 |
374 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4902856 rs780927796 |
376 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1466266396 CA372377786 |
379 | L>F | No |
ClinGen TOPMed |
|
|
rs371921712 CA372377780 |
380 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs371921712 CA187424595 |
380 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs371921712 CA372377778 |
380 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4902854 rs375709912 |
380 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777576732 CA4902853 |
381 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4902850 rs766434970 |
382 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766434970 CA372377762 |
382 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766434970 CA4902851 |
382 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902849 rs760732074 |
382 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750521419 CA4902848 |
383 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4902846 rs1478604335 |
384 | N>D | No |
ClinGen gnomAD |
|
|
rs1426502315 CA372377736 |
384 | N>K | No |
ClinGen gnomAD |
|
|
CA372377728 rs1198142862 |
385 | S>N | No |
ClinGen gnomAD |
|
|
CA372377706 rs1224200466 |
386 | E>D | No |
ClinGen gnomAD |
|
|
CA372377716 rs1247856381 |
386 | E>K | No |
ClinGen gnomAD |
|
|
CA4902843 rs774812713 |
388 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA372377679 rs1320277133 |
389 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA372377680 rs1320277133 |
389 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775336464 CA372377636 |
392 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs775336464 CA4902840 |
392 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4902841 COSM4006857 rs762668132 |
392 | R>W | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372377612 rs1276499964 |
394 | Q>R | No |
ClinGen gnomAD |
|
|
CA4902839 rs769495014 |
395 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA187424556 rs917971005 |
395 | P>T | No |
ClinGen gnomAD |
|
|
rs1466856033 CA372377595 |
396 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA187424544 rs111386954 |
397 | E>K | No |
ClinGen Ensembl |
No associated diseases with Q7LC44
1 regional properties for Q7LC44
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GPCR, rhodopsin-like, 7TM | 85 - 544 | IPR017452 |
Functions
16 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| 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. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| neuronal ribonucleoprotein granule | A ribonucleoprotein complex that is found in the cytoplasm of axons and dendrites, and transports translationally silenced mRNAs to dendritic synapses, where they are released and translated in response to specific exogenous stimuli. |
| 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 density membrane | The membrane component of the postsynaptic density. This is the region of the postsynaptic membrane in which the population of neurotransmitter receptors involved in synaptic transmission are concentrated. |
| postsynaptic endosome | An endosomal compartment that is part of the post-synapse. Only early and recycling endosomes are typically present in the postsynapse. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| anterior/posterior pattern specification | The regionalization process in which specific areas of cell differentiation are determined along the anterior-posterior axis. The anterior-posterior axis is defined by a line that runs from the head or mouth of an organism to the tail or opposite end of the organism. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| dendritic spine morphogenesis | The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| 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. |
| endoderm development | The process whose specific outcome is the progression of the endoderm over time, from its formation to the mature structure. The endoderm is the innermost germ layer that develops into the gastrointestinal tract, the lungs and associated tissues. |
| learning | Any process in an organism in which a relatively long-lasting adaptive behavioral change occurs as the result of experience. |
| long-term memory | The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation. |
| long-term synaptic potentiation | A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse. |
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| mRNA transport | The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| positive regulation of AMPA receptor activity | Any process that activates or increases the frequency, rate or extent of AMPA selective glutamate receptor activity. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of cell morphogenesis | Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. |
| regulation of dendritic spine morphogenesis | Any process that modulates the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| regulation of long-term synaptic depression | Any process that modulates the frequency, rate or extent of long term synaptic depression. |
| regulation of long-term synaptic potentiation | Any process that modulates the frequency, rate or extent of long-term synaptic potentiation. |
| regulation of neuronal synaptic plasticity | A process that modulates neuronal synaptic plasticity, the ability of neuronal synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| regulation of postsynaptic neurotransmitter receptor internalization | Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse. |
| vesicle-mediated intercellular transport | A cellular transport process in which transported substances are moved in extracellular vesicles between cells; transported substances are enclosed in the vesicle lumen or located in the extracellular vesicle membrane. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8AWC3 | ARC | Activity-regulated cytoskeleton-associated protein | Gallus gallus (Chicken) | PR |
| Q9WV31 | Arc | Activity-regulated cytoskeleton-associated protein | Mus musculus (Mouse) | PR |
| Q63053 | Arc | Activity-regulated cytoskeleton-associated protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MELDHRTSGG | LHAYPGPRGG | QVAKPNVILQ | IGKCRAEMLE | HVRRTHRHLL | AEVSKQVERE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKGLHRSVGK | LESNLDGYVP | TSDSQRWKKS | IKACLCRCQE | TIANLERWVK | REMHVWREVF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YRLERWADRL | ESTGGKYPVG | SESARHTVSV | GVGGPESYCH | EADGYDYTVS | PYAITPPPAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GELPGQEPAE | AQQYQPWVPG | EDGQPSPGVD | TQIFEDPREF | LSHLEEYLRQ | VGGSEEYWLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QIQNHMNGPA | KKWWEFKQGS | VKNWVEFKKE | FLQYSEGTLS | REAIQRELDL | PQKQGEPLDQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FLWRKRDLYQ | TLYVDADEEE | IIQYVVGTLQ | PKLKRFLRHP | LPKTLEQLIQ | RGMEVQDDLE |
| 370 | 380 | 390 | |||
| QAAEPAGPHL | PVEDEAETLT | PAPNSESVAS | DRTQPE |