Q86U42
Gene name |
PABPN1 |
Protein name |
Polyadenylate-binding protein 2 |
Names |
PABP-2, Poly(A)-binding protein 2, Nuclear poly(A)-binding protein 1, Poly(A)-binding protein II, PABII, Polyadenylate-binding nuclear protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8106 |
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
4 structures for Q86U42
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3B4D | X-ray | 200 A | A | 167-254 | PDB |
| 3B4M | X-ray | 282 A | A/B/C/D | 167-254 | PDB |
| 3UCG | X-ray | 195 A | A | 167-254 | PDB |
| AF-Q86U42-F1 | Predicted | AlphaFoldDB |
224 variants for Q86U42
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000989181 rs1594987281 |
8 | A>missing | Oculopharyngeal muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989180 RCV000599541 rs193922941 |
8 | A>missing | Oculopharyngeal muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs193922941 RCV000851331 RCV000360117 |
9 | A>missing | Oculopharyngeal muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001268333 RCV001780224 rs1888252890 |
9 | A>missing | Oculopharyngeal muscular dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs104894466 CA254158 RCV000007793 |
12 | G>A | Oculopharyngeal muscular dystrophy Oculopharyngeal muscular dystrophy (opmd) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10603925 RCV003133205 rs886042198 RCV000392627 |
57 | P>S | Oculopharyngeal muscular dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1303888031 CA388966897 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA257773647 rs925400858 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388966921 rs1446975876 |
5 | A>V | No |
ClinGen gnomAD |
|
| VAR_018179 | 6 | A>AAAA | No | UniProt | |
|
CA388966924 rs1471120720 |
6 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388966934 rs1164675505 |
6 | A>V | No |
ClinGen TOPMed |
|
|
rs1888253108 RCV001092188 |
7 | A>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 8 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433496791 CA388966977 |
9 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1888255467 RCV001092189 |
9 | A>missing | No |
ClinVar dbSNP |
|
|
CA388966981 rs1220650804 |
10 | A>S | No |
ClinGen TOPMed |
|
|
rs193922941 RCV000288768 |
10 | A>missing | No |
ClinVar dbSNP |
|
|
CA388966987 rs1594987353 |
10 | A>V | No |
ClinGen Ensembl |
|
|
rs1045060319 CA388966993 |
11 | A>P | No |
ClinGen TOPMed |
|
|
CA257773659 rs1045060319 |
11 | A>S | No |
ClinGen TOPMed |
|
|
rs1374271994 CA388966999 |
11 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA388967020 rs1293492884 |
13 | A>P | No |
ClinGen TOPMed |
|
|
CA388967017 rs1293492884 |
13 | A>T | No |
ClinGen TOPMed |
|
|
rs1457043429 CA388967051 |
15 | G>D | No |
ClinGen TOPMed |
|
|
rs1157430457 CA388967041 |
15 | G>S | No |
ClinGen TOPMed |
|
|
CA388967057 rs1281542001 |
16 | G>C | No |
ClinGen gnomAD |
|
|
rs1481132195 CA388967073 |
17 | R>Q | No |
ClinGen TOPMed |
|
|
rs1176636805 CA388967070 |
17 | R>W | No |
ClinGen TOPMed |
|
|
CA10605810 rs886043674 RCV000301380 |
18 | G>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs886043674 CA388967079 |
18 | G>S | No |
ClinGen gnomAD |
|
|
CA388967097 rs1422393088 |
19 | S>A | No |
ClinGen TOPMed |
|
|
rs1272658842 CA388967114 |
20 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199259625 CA388967127 |
21 | P>Q | No |
ClinGen gnomAD |
|
|
CA388967151 rs1486180308 |
23 | R>W | No |
ClinGen TOPMed |
|
|
CA388967177 rs1206658925 |
25 | R>G | No |
ClinGen TOPMed |
|
|
CA257773676 rs1016310389 |
27 | L>F | No |
ClinGen TOPMed |
|
|
rs897635864 CA257773679 |
28 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1594987452 CA388967246 |
29 | P>S | No |
ClinGen Ensembl |
|
|
rs1439364113 CA388967287 |
32 | G>A | No |
ClinGen gnomAD |
|
|
CA388967283 rs1236561277 |
32 | G>R | No |
ClinGen gnomAD |
|
|
rs1177737587 CA388967316 |
34 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1300739575 CA388967312 |
34 | E>G | No |
ClinGen TOPMed |
|
|
CA388967305 rs1310540690 |
34 | E>K | No |
ClinGen TOPMed |
|
|
rs993310171 CA388967335 |
36 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs993310171 CA257773683 |
36 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1170742693 CA388967353 |
37 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388967339 rs1478934510 |
37 | E>K | No |
ClinGen gnomAD |
|
|
rs1401488248 CA388967362 |
38 | G>E | No |
ClinGen gnomAD |
|
|
CA388967367 rs1465677125 |
39 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA257773690 rs954638383 |
40 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388967393 rs1337013160 |
41 | G>E | No |
ClinGen TOPMed |
|
|
CA388967390 rs1445619553 |
41 | G>R | No |
ClinGen gnomAD |
|
|
CA7112525 rs752206181 |
42 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333195182 CA388967427 |
44 | G>R | No |
ClinGen gnomAD |
|
|
CA388967452 rs1231617329 |
45 | D>V | No |
ClinGen gnomAD |
|
|
rs535276533 CA257773694 |
46 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA388967480 rs1594987536 |
47 | G>R | No |
ClinGen Ensembl |
|
|
CA388967512 rs1375547262 |
48 | N>K | No |
ClinGen TOPMed |
|
|
CA388967517 rs1174790932 |
49 | G>R | No |
ClinGen TOPMed |
|
|
rs1421635538 CA388967539 |
50 | L>P | No |
ClinGen TOPMed |
|
|
CA388967542 rs1256275055 |
51 | E>K | No |
ClinGen gnomAD |
|
|
rs1214566908 CA388967564 |
52 | S>A | No |
ClinGen gnomAD |
|
|
CA388967643 rs1243473731 |
57 | P>L | No |
ClinGen TOPMed |
|
|
rs986489999 CA257773701 |
59 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA388967707 rs1478129001 |
63 | E>D | No |
ClinGen gnomAD |
|
|
rs924369291 CA257773703 |
64 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748930859 CA7112528 |
65 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420857469 CA388967723 |
65 | E>K | No |
ClinGen gnomAD |
|
|
rs1394623996 CA388967748 |
67 | E>Q | No |
ClinGen TOPMed |
|
|
CA388967771 rs1411649143 |
68 | P>L | No |
ClinGen gnomAD |
|
|
rs1392510529 CA388967789 |
70 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1392510529 CA388967787 |
70 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388967797 rs1385436714 |
71 | E>K | No |
ClinGen gnomAD |
|
|
rs935460519 CA257773706 |
72 | E>G | No |
ClinGen TOPMed |
|
|
rs1323362259 CA388967834 |
73 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1276316872 CA388967885 |
76 | R>P | No |
ClinGen gnomAD |
|
|
CA388967883 rs1421817437 |
76 | R>W | No |
ClinGen TOPMed |
|
|
CA257773714 rs988289631 |
77 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA388967909 rs746197440 |
77 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7112531 rs746197440 |
77 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA388967901 rs988289631 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388967921 rs1594987701 |
78 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 78 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388967952 rs1204501680 |
80 | P>H | No |
ClinGen TOPMed |
|
|
CA388967954 rs1204501680 |
80 | P>L | No |
ClinGen TOPMed |
|
|
CA388967958 rs1207809520 |
81 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs912588128 CA257773722 |
81 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs912588128 CA388967972 |
81 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs912588128 CA388967968 |
81 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA388967960 rs1207809520 |
81 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1351926304 CA388968018 |
83 | A>V | No |
ClinGen TOPMed |
|
|
COSM3706193 CA388968031 rs1261029476 |
85 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA257773725 rs537399244 |
86 | P>L | No |
ClinGen 1000Genomes |
|
|
CA388968050 rs1164926833 |
86 | P>S | No |
ClinGen gnomAD |
|
|
rs1456099054 CA388968069 |
87 | G>E | No |
ClinGen gnomAD |
|
|
rs1305681414 CA388968090 |
89 | G>C | No |
ClinGen TOPMed |
|
|
rs949653857 CA257773726 |
90 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7112533 rs772490762 |
91 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388968148 rs1045766366 |
92 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1045766366 CA257773729 |
92 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs942675330 CA257773734 |
93 | P>L | No |
ClinGen Ensembl |
|
|
CA388968169 rs1396655065 |
94 | G>C | No |
ClinGen gnomAD |
|
|
CA7112536 rs768844162 |
95 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1249857209 CA388968199 |
96 | Q>H | No |
ClinGen TOPMed |
|
|
CA7112537 rs777032493 |
96 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388968222 rs1290678545 |
97 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 100 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762104467 CA388968316 CA7112539 |
101 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388968309 rs1354143353 |
101 | E>G | No |
ClinGen gnomAD |
|
|
CA7112540 rs765448940 |
102 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751341605 CA7112541 |
105 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7112542 rs759305760 |
107 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1208507044 CA388968448 |
109 | P>L | No |
ClinGen TOPMed |
|
|
rs1356131732 CA388968501 |
112 | G>S | No |
ClinGen TOPMed |
|
|
CA388968523 rs1241110428 |
113 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1380596363 CA388968532 |
113 | A>V | No |
ClinGen gnomAD |
|
|
CA388968598 rs1360412492 |
117 | P>Q | No |
ClinGen gnomAD |
|
|
rs1157277111 CA388968592 |
117 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs570708643 CA257774006 |
118 | E>K | No |
ClinGen Ensembl |
|
|
CA388968800 rs1171417432 |
125 | R>* | No |
ClinGen gnomAD |
|
|
rs1464646568 CA388968889 |
131 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 138 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756722959 CA388969002 |
138 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278212105 CA388969142 |
147 | M>V | No |
ClinGen gnomAD |
|
|
CA388969215 rs1319392954 |
151 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780542932 CA7112570 |
152 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388969257 rs1339852651 |
153 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs183579627 CA7112571 |
153 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1434815340 CA388969262 |
154 | G>C | No |
ClinGen TOPMed |
|
|
rs1043282787 CA257774037 COSM75823 |
155 | N>S | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 157 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758090716 CA7112589 |
158 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7112590 rs766089676 |
158 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201354726 CA257774344 |
160 | I>T | No |
ClinGen 1000Genomes |
|
|
CA388969516 rs1159070981 |
161 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755335276 CA7112592 |
163 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7112593 rs781778407 |
165 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 165 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7112595 rs144896214 |
167 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388969670 rs1359244331 |
167 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388969821 rs1019200988 |
171 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1019200988 CA257774356 |
171 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1182247856 CA388969845 |
172 | R>H | No |
ClinGen gnomAD |
|
|
rs147957101 CA7112597 |
174 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA257774367 rs996174582 |
175 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7112600 rs201713476 |
178 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 187 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7112631 rs753139856 |
190 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7112634 rs116983161 |
195 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA7112635 rs757395524 |
200 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257774584 rs981278088 |
209 | S>N | No |
ClinGen TOPMed |
|
|
rs1267813667 CA388971582 |
211 | H>N | No |
ClinGen gnomAD |
|
|
rs751724696 CA7112662 |
216 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1354255824 CA388971900 |
218 | I>V | No |
ClinGen gnomAD |
|
|
RCV000178894 CA246085 rs794727719 |
221 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA388972051 rs1461189820 |
222 | D>E | No |
ClinGen Ensembl |
|
|
CA7112665 rs749040116 |
222 | D>G | No |
ClinGen ExAC |
|
|
rs1258958708 CA388972075 |
223 | K>R | No |
ClinGen gnomAD |
|
|
CA388972114 rs1337764696 |
225 | S>T | No |
ClinGen TOPMed |
|
|
CA257774977 rs376401654 |
239 | G>R | No |
ClinGen ESP |
|
| TCGA novel | 242 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469414245 CA388972622 |
245 | I>F | No |
ClinGen gnomAD |
|
|
CA257775047 rs1002922017 |
246 | P>A | No |
ClinGen TOPMed |
|
|
CA7112690 rs768225992 |
247 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1216576502 CA388972675 |
248 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388972854 rs1272585147 |
256 | T>I | No |
ClinGen TOPMed |
|
|
rs770139042 CA7112693 |
259 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7112692 rs748568880 |
259 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388972938 rs1311819635 |
260 | G>S | No |
ClinGen gnomAD |
|
|
CA7112694 rs367775939 |
261 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886044639 CA388973048 |
263 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA388973045 rs886044639 |
263 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771417165 CA7112696 |
263 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7112697 rs774324245 |
264 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143507010 CA7112698 |
265 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371234278 CA257775059 |
265 | R>H | No |
ClinGen ESP |
|
|
rs767869416 CA7112699 |
266 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7112700 rs368547431 |
267 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761771221 CA7112701 |
267 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs767498336 CA388973165 |
268 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421864106 CA388973159 COSM1562691 |
268 | A>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1421864106 CA388973153 |
268 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7112703 rs767498336 |
268 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140804809 CA7112705 |
269 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs758290474 CA7112704 |
269 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7112706 rs751037301 |
270 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA257775086 rs559247359 |
272 | N>S | No |
ClinGen 1000Genomes |
|
|
CA7112708 rs754497019 |
273 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1408639932 CA388973250 |
273 | Y>H | No |
ClinGen TOPMed |
|
|
rs770189815 CA7112711 |
277 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778129238 CA7112712 |
277 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322681096 CA388973400 |
278 | S>P | No |
ClinGen gnomAD |
|
|
CA7112714 rs201001377 COSM3377368 |
279 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1470037838 CA388973418 |
279 | R>Q | No |
ClinGen TOPMed |
|
|
CA7112715 rs774866651 |
281 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774866651 CA7112716 |
281 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217365026 CA388973505 |
282 | S>R | No |
ClinGen gnomAD |
|
|
CA388973662 rs1474513454 |
288 | P>L | No |
ClinGen gnomAD |
|
|
CA7112717 rs772278345 |
288 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA388973679 rs760957465 |
289 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7112719 rs760957465 |
289 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA257775131 rs371919339 |
289 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388973705 rs1165283571 |
291 | R>C | No |
ClinGen gnomAD |
|
|
CA388973711 rs1363598356 COSM954674 |
291 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs762744505 CA7112722 |
292 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7112721 rs750353883 |
292 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428112128 CA388973748 |
293 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1317226440 CA388974171 |
295 | G>S | No |
ClinGen TOPMed |
|
|
CA388974184 rs1173802358 |
296 | R>Q | No |
ClinGen gnomAD |
|
|
rs1470706211 CA388974181 |
296 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA257775722 rs200293075 |
297 | A>T | No |
ClinGen 1000Genomes |
|
|
rs199716577 CA257775729 |
297 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1404969478 CA388974236 |
299 | A>P | No |
ClinGen gnomAD |
|
|
CA7112755 rs746186777 |
299 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1376751675 CA388974335 |
303 | Y>C | No |
ClinGen TOPMed |
|
|
CA388974420 rs1594991955 |
306 | Y>* | No |
ClinGen Ensembl |
|
|
rs1594991957 CA388974425 |
307 | Y>K | No |
ClinGen Ensembl |
1 associated diseases with Q86U42
[MIM: 164300]: Oculopharyngeal muscular dystrophy (OPMD)
A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. {ECO:0000269|PubMed:12673802}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. {ECO:0000269|PubMed:12673802}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q86U42
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | RNA recognition motif domain | 172 - 249 | IPR000504 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nuclear inclusion body | An intranuclear focus at which aggregated proteins have been sequestered. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase binding | Binding to an RNA polymerase molecule or complex. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to lipopolysaccharide | 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| MAPK cascade | An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
| poly(A)+ mRNA export from nucleus | The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm. |
| positive regulation of polynucleotide adenylyltransferase activity | Any process that activates or increases the frequency, rate or extent of polynucleotide adenylyltransferase activity. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28165 | PABPN1 | Polyadenylate-binding protein 2 | Bos taurus (Bovine) | PR |
| Q5XFR0 | Pabpn1l | Embryonic polyadenylate-binding protein 2 | Mus musculus (Mouse) | PR |
| Q8CCS6 | Pabpn1 | Polyadenylate-binding protein 2 | Mus musculus (Mouse) | PR |
| B0BNE4 | Pabpn1l | Embryonic polyadenylate-binding protein 2 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAAAAAA | AGAAGGRGSG | PGRRRHLVPG | AGGEAGEGAP | GGAGDYGNGL | ESEELEPEEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLEPEPEPEP | EEEPPRPRAP | PGAPGPGPGS | GAPGSQEEEE | EPGLVEGDPG | DGAIEDPELE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AIKARVREME | EEAEKLKELQ | NEVEKQMNMS | PPPGNAGPVI | MSIEEKMEAD | ARSIYVGNVD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YGATAEELEA | HFHGCGSVNR | VTILCDKFSG | HPKGFAYIEF | SDKESVRTSL | ALDESLFRGR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QIKVIPKRTN | RPGISTTDRG | FPRARYRART | TNYNSSRSRF | YSGFNSRPRG | RVYRGRARAT |
| SWYSPY |