Descriptions

CENP-B Interacts with centromeric heterochromatin in chromosomes and binds to a specific 17 bp subset of alphoid satellite DNA, called the CENP-B box. This protein possesses intrinsically disordered regions (IDRs) with large negative charge, some of which involve a consecutive sequence of aspartate (D) or glutamate (E) residues, known as D/E repeats. These D/E repeats can cause autoinhibition through intramolecular electrostatic interaction with HMG boxes and modulate binding to DNA. This autoinhibited state can transition into the uninhibited complex with DNA through an electrostatically driven induced-fit process, which accelerates the target DNA search kinetics in the presence of non-functional high-affinity ligands ('decoys').

Autoinhibitory domains (AIDs)

Target domain

1-136 (DNA-binding domain)

Relief mechanism

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

5 structures for P07199

Entry ID Method Resolution Chain Position Source
1BW6 NMR - A 1-56 PDB
1HLV X-ray 250 A A 1-129 PDB
1UFI X-ray 165 A A/B/C/D 540-599 PDB
6KDR X-ray 211 A D/E 2-10 PDB
AF-P07199-F1 Predicted AlphaFoldDB

438 variants for P07199

Variant ID(s) Position Change Description Diseaes Association Provenance
rs768406404 3 P>R No ExAC
gnomAD
rs267605931 3 P>S No Ensembl
rs1237739956 11 R>Q No gnomAD
rs1265462304 11 R>W No gnomAD
rs1345240536 21 E>D No gnomAD
rs1407244321 22 E>D No gnomAD
rs780512777 22 E>K No ExAC
gnomAD
rs905224989 25 D>N No TOPMed
gnomAD
rs1347102548 27 R>L No gnomAD
TCGA novel 28 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs763387256 34 R>H No ExAC
gnomAD
rs1434795060 36 N>S No gnomAD
COSM4964654 46 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770909940 47 K>N No ExAC
gnomAD
TCGA novel 50 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1386081685 50 R>S No TOPMed
gnomAD
rs774130454 51 A>S No ExAC
gnomAD
rs1381090845 52 I>L No gnomAD
rs1321353770 54 A>V No gnomAD
COSM3799529 56 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs145734304 58 K>N No ESP
ExAC
gnomAD
TCGA novel 59 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1568495766 60 G>R No Ensembl
rs769595472 61 V>M No ExAC
gnomAD
rs745496146 62 A>P No ExAC
gnomAD
rs745496146 62 A>S No ExAC
gnomAD
rs756692439 63 S>P No ExAC
gnomAD
rs533106029 64 T>I No 1000Genomes
ExAC
gnomAD
rs202224991 64 T>P No ExAC
gnomAD
TCGA novel 69 N>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753269687 70 K>R No ExAC
gnomAD
rs1169850506 76 K>R No TOPMed
COSM723696 77 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1380781333 78 E>K No TOPMed
gnomAD
rs1380781333 78 E>Q No TOPMed
gnomAD
rs1338929899 79 G>S No gnomAD
COSM1471464 81 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1167131221 83 A>T No gnomAD
rs1168609954 88 I>M No gnomAD
rs1391956615 88 I>T No gnomAD
rs1443469427 89 R>L No gnomAD
rs867843060 94 P>A No gnomAD
rs1250192663 94 P>R No gnomAD
rs867843060 94 P>S No gnomAD
rs1367525260 96 K>R No TOPMed
rs1194468678 97 G>S No gnomAD
TCGA novel 99 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM723697 102 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 109 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745717178 113 M>L No ExAC
gnomAD
TCGA novel 118 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1372244679 121 G>D No gnomAD
rs1362864096 133 V>A No gnomAD
rs1362864096 133 V>G No gnomAD
rs748658170 136 S>G No ExAC
gnomAD
rs755273196 137 G>S No ExAC
gnomAD
rs531687996 139 A>P No 1000Genomes
rs766681316 139 A>V No ExAC
TOPMed
gnomAD
rs561079262 140 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs561079262 140 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1333215305 141 A>G No TOPMed
rs1369467816 141 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1333215305 141 A>V No TOPMed
rs761949795 142 R>C No ExAC
gnomAD
rs975691838 146 A>T No TOPMed
rs1352066935 147 A>S No gnomAD
rs1352066935 147 A>T No gnomAD
rs542584402 147 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs776448311 148 P>R No ExAC
gnomAD
rs1363667913 148 P>S No TOPMed
gnomAD
TCGA novel 149 R>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs773064269 149 R>C No ExAC
TOPMed
gnomAD
rs771677387 149 R>H No ExAC
TOPMed
gnomAD
TCGA novel 149 R>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs773064269 149 R>S No ExAC
TOPMed
gnomAD
rs747708976 150 T>P No ExAC
gnomAD
rs1413132890 151 P>S No gnomAD
rs1479704969 153 A>E No gnomAD
rs1248979638 155 A>S No gnomAD
rs1248979638 155 A>T No gnomAD
rs769161961 157 P>A No ExAC
gnomAD
rs572112095 157 P>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs756496687 159 A>E No ExAC
gnomAD
rs780404896 159 A>T No ExAC
gnomAD
rs1236440118 161 P>L No TOPMed
rs1257221408 162 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1268479257 163 E>K No gnomAD
rs894008394 166 G>D No TOPMed
gnomAD
rs781437027 167 G>E No ExAC
gnomAD
rs750641264 167 G>W No ExAC
gnomAD
rs201262188 168 S>G No ExAC
gnomAD
rs560373821 170 T>I No 1000Genomes
rs751590543 171 G>D No ExAC
gnomAD
rs751590543 171 G>V No ExAC
gnomAD
rs1329456527 172 W>C No TOPMed
gnomAD
rs1458443786 172 W>L No gnomAD
rs1388925961 173 R>L No gnomAD
rs759452919 174 A>P No ExAC
TOPMed
gnomAD
rs759452919 174 A>S No ExAC
TOPMed
gnomAD
rs753776622 175 R>Q No ExAC
gnomAD
rs200133266 177 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1192254824 177 E>Q No gnomAD
rs1240384473 179 P>R No gnomAD
rs878883694 180 P>L No TOPMed
rs1465463217 181 S>P No gnomAD
rs771798121 187 A>P No ExAC
gnomAD
COSM4098338 187 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1280523528 188 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs867023076 189 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1294681306 191 V>M No TOPMed
gnomAD
rs140102208 193 S>G No ESP
ExAC
TOPMed
gnomAD
rs773929504 193 S>N No ExAC
TOPMed
gnomAD
rs768060890 194 A>T No ExAC
gnomAD
rs749791585 194 A>V No ExAC
gnomAD
rs780496154 198 S>R No ExAC
gnomAD
TCGA novel 199 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 201 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1409852994 202 D>G No gnomAD
rs1309939310 203 F>L No TOPMed
rs369656252 203 F>Y No ESP
ExAC
TOPMed
gnomAD
rs1600367957 205 P>S No Ensembl
TCGA novel
rs1600367947
206 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs556461613 208 A>V No 1000Genomes
ExAC
gnomAD
rs1484388993 209 A>G No TOPMed
gnomAD
rs1181946654 209 A>S No TOPMed
gnomAD
rs1181946654 209 A>T No TOPMed
gnomAD
rs1484388993 209 A>V No TOPMed
gnomAD
rs777853235 213 G>V No ExAC
TOPMed
gnomAD
COSM1307379 216 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs897815576 218 P>L No TOPMed
gnomAD
rs897815576 218 P>R No TOPMed
gnomAD
rs1380923882 219 R>C No TOPMed
gnomAD
rs758472789 219 R>H No ExAC
TOPMed
gnomAD
rs758472789 219 R>P No ExAC
TOPMed
gnomAD
rs1380923882 219 R>S No TOPMed
gnomAD
rs1441954716 220 Q>P No gnomAD
rs753775625 221 A>D No ExAC
gnomAD
rs1369159816 221 A>P No TOPMed
gnomAD
rs1384665166 223 Q>K No TOPMed
gnomAD
rs766276108 224 R>L No ExAC
gnomAD
COSM4098337 225 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760710349 226 S>C No ExAC
gnomAD
rs750199272 226 S>R No ExAC
gnomAD
rs1178809396 231 A>T No gnomAD
COSM723698 234 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773929979 235 G>S No ExAC
gnomAD
rs763658114 238 K>R No ExAC
gnomAD
rs1323093092 240 P>A No gnomAD
rs1323093092 240 P>T No gnomAD
rs1348985910 241 P>L No gnomAD
rs1291791291 245 G>S No gnomAD
rs1568495268 246 K>R No Ensembl
rs770151730 247 S>L No ExAC
TOPMed
gnomAD
rs112241514 247 S>P No Ensembl
rs771299910 251 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs879399143 251 R>H No gnomAD
rs1472837172 252 A>E No TOPMed
gnomAD
rs1184111498 252 A>S No gnomAD
rs747225829 253 G>R No ExAC
gnomAD
rs747225829 253 G>S No ExAC
gnomAD
rs758481653 255 A>V No ExAC
TOPMed
gnomAD
rs1026671116 256 G>A No Ensembl
TCGA novel 257 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748126240 257 L>R No ExAC
gnomAD
rs1214608347 258 P>L No gnomAD
COSM4098336 261 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs867769633 263 A>T No gnomAD
rs1299814146 265 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1299814146 265 S>Y No gnomAD
rs996878878 267 G>S No Ensembl
rs1368366384 270 T>I No gnomAD
rs1288385037 271 T>I No TOPMed
gnomAD
rs1433115280 273 A>V No gnomAD
rs909068515 275 A>G No TOPMed
rs372238704 276 K>N No ESP
ExAC
TOPMed
gnomAD
rs763706617 276 K>R No ExAC
gnomAD
rs774824085 279 K>R No ExAC
gnomAD
rs774824085 279 K>T No ExAC
gnomAD
rs1267382714 280 A>V No gnomAD
rs759981081 284 R>* No ExAC
gnomAD
rs759981081 284 R>G No ExAC
gnomAD
rs1209039813 286 A>V No gnomAD
rs1323237462 287 A>S No gnomAD
rs1448788680 287 A>V No TOPMed
rs1254676165 288 E>Q No gnomAD
rs781319502 290 R>C No gnomAD
COSM1681513
rs1372115231
291 R>W ovary [Cosmic] No cosmic curated
TOPMed
rs865816773 296 A>V No Ensembl
rs1367517935 297 G>S No gnomAD
rs555520508 298 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs868826693 298 R>H No gnomAD
rs868826693 298 R>L No gnomAD
rs1300889115 301 A>P No TOPMed
gnomAD
rs147156312 303 S>C No ESP
ExAC
gnomAD
rs147156312 303 S>Y No ESP
ExAC
gnomAD
rs1453532151 307 S>L No TOPMed
rs1447125625 308 G>D No gnomAD
rs1341362295 310 R>Q No gnomAD
rs1188777924 310 R>W No gnomAD
rs755165312 311 H>R No ExAC
gnomAD
rs1483829349 312 V>L No gnomAD
rs781321752 315 A>V No ExAC
gnomAD
rs368864621 316 F>L No ESP
TOPMed
gnomAD
rs751268082 316 F>S No ExAC
TOPMed
gnomAD
rs757098310 316 F>V No ExAC
TOPMed
gnomAD
rs763984128 318 P>L No ExAC
TOPMed
gnomAD
rs1245462924 318 P>S No gnomAD
rs1310234570 319 P>S No gnomAD
rs1402722094 320 G>A No TOPMed
gnomAD
rs1397577674 320 G>S No TOPMed
gnomAD
rs566480942 321 T>I No 1000Genomes
ExAC
gnomAD
rs1472220152 322 V>A No gnomAD
rs1168709421 322 V>L No gnomAD
rs1366364466 324 P>R No gnomAD
rs551434705 327 R>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs551434705 327 R>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs776871979 332 Q>K No ExAC
TOPMed
gnomAD
rs761275404 334 K>N No ExAC
TOPMed
gnomAD
rs1286164384 335 G>S No gnomAD
rs1245848725 338 R>C No gnomAD
rs1340821507 338 R>H No gnomAD
rs1407875814 340 A>T No gnomAD
rs967110721 343 L>P No TOPMed
rs1042265178 345 A>T No TOPMed
gnomAD
rs1458143967 346 M>V No gnomAD
rs1180514338 348 A>P No gnomAD
rs1198851115 350 E>D No gnomAD
rs749431418 354 P>S No ExAC
gnomAD
rs1292178121 356 G>S No gnomAD
rs770738210 357 L>P No ExAC
TOPMed
gnomAD
rs142777704 358 Q>H No 1000Genomes
TOPMed
rs746970763 360 G>D No ExAC
gnomAD
rs1226356877 361 L>F No gnomAD
rs1390088273 362 T>A No gnomAD
rs1235451933 366 H>Q No TOPMed
rs1328829291 366 H>Y No gnomAD
rs148399929 367 F>S No ESP
ExAC
TOPMed
gnomAD
rs1387461280 368 V>M No gnomAD
rs200811692 370 A>G No ExAC
gnomAD
rs1157325288 370 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM4098334 372 W>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1172481001 373 Q>R No gnomAD
rs1248486393 374 A>S No gnomAD
COSM3389743
rs753304095
376 E>K pancreas [Cosmic] No cosmic curated
ExAC
gnomAD
COSM288372 377 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761024900 377 P>S No ExAC
TOPMed
gnomAD
rs750992860 378 S>A No ExAC
gnomAD
COSM6159748 378 S>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375897463 381 A>T No ESP
TOPMed
gnomAD
rs1218529101 381 A>V No gnomAD
rs774695747 382 A>T No ExAC
TOPMed
gnomAD
rs144459328 382 A>V No ESP
ExAC
TOPMed
gnomAD
rs763301814 383 C>R No ExAC
gnomAD
rs775648926 385 R>C No ExAC
gnomAD
rs1333958799 385 R>H No gnomAD
rs746909694 386 E>D No ExAC
gnomAD
rs769931259 386 E>K No ExAC
gnomAD
TCGA novel 387 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777835195 387 A>V No ExAC
gnomAD
rs1190725730 390 G>E No gnomAD
rs1388440344 390 G>R No gnomAD
rs1465534390 391 G>D No gnomAD
rs1258609909 393 P>S No gnomAD
rs754558450 395 A>D No ExAC
TOPMed
gnomAD
rs754558450 395 A>V No ExAC
TOPMed
gnomAD
rs1340808854 396 T>I No gnomAD
rs1211595908 396 T>P No gnomAD
rs1340808854 396 T>S No gnomAD
rs760761824 397 I>M No ExAC
TOPMed
gnomAD
rs1362231882 399 T>A No gnomAD
rs1261380621 403 S>G No TOPMed
rs1446255115 403 S>N No gnomAD
rs1600366842 403 S>R No Ensembl
rs779523200 405 G>E No ExAC
rs1313984335 407 E>K No gnomAD
rs1199745801 408 E>K No TOPMed
rs1429722527 409 E>V No gnomAD
rs1276441146 410 E>K No TOPMed
rs750862703 412 E>K No ExAC
gnomAD
rs757730302 413 E>D No ExAC
TOPMed
rs768121518 413 E>K No ExAC
TOPMed
gnomAD
rs1413367961 414 E>K No gnomAD
rs529107942 415 E>K No 1000Genomes
ExAC
gnomAD
rs754367212 415 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs529107942 415 E>Q No 1000Genomes
ExAC
gnomAD
rs1239031263 416 E>D No gnomAD
rs1465129765 417 E>K No TOPMed
rs191679255 419 E>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs759704025 420 G>D No ExAC
TOPMed
gnomAD
rs765228310 420 G>S No ExAC
gnomAD
rs1226292690 423 E>Q No gnomAD
rs748080776 425 E>D No ExAC
rs772004115 425 E>K No ExAC
gnomAD
rs774073734 426 E>K No ExAC
rs1273567897 427 E>D No TOPMed
rs1432276673 428 E>D No TOPMed
rs1600366625 428 E>G No Ensembl
rs768492671 429 G>E No ExAC
TOPMed
rs768492671 429 G>V No ExAC
TOPMed
rs1463870627 430 E>G No TOPMed
rs779792835 431 E>A No ExAC
TOPMed
rs779792835 431 E>G No ExAC
TOPMed
rs748930909 431 E>K No ExAC
gnomAD
rs1390246446 432 E>G No TOPMed
rs1328003800 433 E>A No TOPMed
rs1328003800 433 E>G No TOPMed
rs1162911059 433 E>K No gnomAD
rs1371827419 434 E>G No TOPMed
rs1407344480 434 E>K No gnomAD
rs1600366513 435 E>G No Ensembl
rs13042058 436 G>A No ExAC
TOPMed
gnomAD
rs13042058 436 G>E No ExAC
TOPMed
gnomAD
rs780602403 436 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
rs13042058 436 G>V No ExAC
TOPMed
gnomAD
rs560113368 437 G>E No 1000Genomes
rs748211874 438 E>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1600366446 438 E>G No Ensembl
rs144899160 438 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748211874
COSM5140684
438 E>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1249512778 439 G>E No gnomAD
rs1184338498 441 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1245669689 442 L>* No TOPMed
gnomAD
rs1480653341 442 L>V No TOPMed
gnomAD
rs1245669689 442 L>W No TOPMed
gnomAD
rs1323180072 443 G>R No gnomAD
rs1395251585 444 E>G No TOPMed
rs1274129101 444 E>K No gnomAD
rs752938535 447 E>D No ExAC
TOPMed
gnomAD
rs533227646 447 E>K No Ensembl
rs1327602524 448 V>E No TOPMed
gnomAD
rs1327602524 448 V>G No TOPMed
gnomAD
rs199992333 449 E>* No 1000Genomes
rs759706920 450 E>D No ExAC
gnomAD
rs138025965 451 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1472284168 451 E>Q No gnomAD
rs1206471984 452 G>V No gnomAD
rs761720824 453 D>N No ExAC
gnomAD
rs774335332 455 D>N No ExAC
gnomAD
rs768406399 457 D>G No ExAC
rs551419159 459 E>Q No ExAC
gnomAD
rs769450213 461 E>K No ExAC
gnomAD
rs1266004626 462 E>A No gnomAD
rs745514430 462 E>K No ExAC
rs756885952 463 D>G No ExAC
gnomAD
rs780699266 463 D>N No ExAC
gnomAD
rs747515195 464 E>K No ExAC
gnomAD
COSM3799528 465 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs373678745
COSM1200731
468 S>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373678745 468 S>W No ESP
ExAC
TOPMed
gnomAD
TCGA novel 469 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1041906979 472 E>V No Ensembl
rs1299209466 473 A>G No gnomAD
rs1299209466 473 A>V No gnomAD
rs1157017690 477 A>S No TOPMed
rs945775228 477 A>V No TOPMed
rs947501798 479 G>R No Ensembl
rs912922404 480 V>A No TOPMed
rs1433226896 480 V>L No TOPMed
gnomAD
rs1386115334 481 V>M No gnomAD
rs893394617 484 G>D No Ensembl
rs760780474 484 G>S No ExAC
TOPMed
gnomAD
rs140633295 487 F>S No ESP
ExAC
TOPMed
gnomAD
rs199738908 488 G>R No 1000Genomes
TOPMed
gnomAD
rs762912299 489 A>S No ExAC
gnomAD
rs1187517907 489 A>V No gnomAD
rs928661373 490 Y>S No TOPMed
gnomAD
rs769493561 491 G>S No ExAC
gnomAD
rs759217770 492 A>S No ExAC
gnomAD
rs1255957529 493 Q>H No TOPMed
rs940799141 494 E>Q No Ensembl
rs746568860 496 A>V No ExAC
gnomAD
rs748676791 497 Q>R No ExAC
gnomAD
rs1485000639 498 C>W No TOPMed
rs748614679 500 T>S No ExAC
TOPMed
gnomAD
rs772638786 500 T>S No ExAC
gnomAD
rs149144936 503 F>S No ESP
ExAC
TOPMed
gnomAD
rs1180295262 508 E>K No TOPMed
rs1456930774 514 S>G No TOPMed
gnomAD
rs1600365941 515 E>D No Ensembl
COSM443807 515 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1436558526 518 D>G No gnomAD
rs1600365916 519 D>E No Ensembl
rs1167453032 519 D>H No TOPMed
gnomAD
rs1167453032 519 D>N No TOPMed
gnomAD
rs1600365904 520 E>D No Ensembl
rs566794290 522 E>K No ExAC
gnomAD
rs866979432 523 D>G No Ensembl
rs1423568101 523 D>N No gnomAD
rs752634687 526 D>G No ExAC
gnomAD
rs1223826972 528 D>N No TOPMed
COSM258766
rs765081320
529 D>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1341635347 530 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs141704389 532 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770661500 532 D>N No ExAC
gnomAD
COSM3363242
rs1600365773
533 E>D kidney [Cosmic] No cosmic curated
Ensembl
rs771761547 536 G>S No ExAC
gnomAD
rs779328212 539 V>L No ExAC
gnomAD
rs749565823 541 V>I No ExAC
gnomAD
rs746104845 548 M>I No ExAC
gnomAD
rs1395407026 549 A>S No TOPMed
rs1054138522 550 Y>C No TOPMed
rs1428909856 552 A>V No TOPMed
rs1223829356 553 M>V No gnomAD
rs1011315880 555 K>R No Ensembl
TCGA novel 560 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs935629273 560 S>Y No TOPMed
rs374655035 561 F>L No ESP
ExAC
TOPMed
gnomAD
rs200421015 562 P>R No ExAC
TOPMed
gnomAD
rs1251401829 562 P>S No gnomAD
TCGA novel 563 I>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1600365629 564 D>A No Ensembl
rs1341846872 565 D>E No TOPMed
rs893331913 565 D>G No Ensembl
rs754967941 566 R>C No ExAC
gnomAD
rs754967941 566 R>G No ExAC
gnomAD
rs753648407 566 R>H No ExAC
TOPMed
gnomAD
rs760386998 570 H>N No ExAC
gnomAD
rs773062211 572 L>F No ExAC
gnomAD
rs1407973640 573 H>R No gnomAD
TCGA novel 574 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs557225624 576 H>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs775776155 579 V>I No ExAC
TOPMed
gnomAD
rs770202423 580 H>Y No ExAC
gnomAD
rs1469896763 581 V>G No TOPMed
rs1411743980 581 V>L No gnomAD
rs746086964 582 T>A No ExAC
gnomAD
rs368775626 583 R>G No ESP
TOPMed
rs757341919 587 A>T No ExAC
gnomAD
rs1165926755 590 A>S No TOPMed
COSM3713308
rs747014298
590 A>V upper_aerodigestive_tract [Cosmic] No cosmic curated
ExAC
gnomAD
rs754812338 593 R>* No ExAC
gnomAD
rs753881816 593 R>Q No ExAC
TOPMed
gnomAD
TCGA novel 594 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3546275 595 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766268613 596 G>A No ExAC
gnomAD
rs1279570028 598 Q>* No gnomAD
rs750078348 599 S>N No ExAC
rs767027838 600 S>S No ExAC
gnomAD

No associated diseases with P07199

No regional properties for P07199

Type Name Position InterPro Accession
No domain, repeats, and functional sites for P07199

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome, centromere
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
chromosome, centromeric region The region of a chromosome that includes the centromeric DNA and associated proteins. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
condensed chromosome, centromeric region The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome.
nuclear body Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
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.
pericentric heterochromatin Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3).

5 GO annotations of molecular function

Name Definition
centromeric DNA binding Binding to a centromere, a region of chromosome where the spindle fibers attach during mitosis and meiosis.
chromatin binding Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
satellite DNA binding Binding to satellite DNA, the many tandem repeats (identical or related) of a short basic repeating unit; many have a base composition or other property different from the genome average that allows them to be separated from the bulk (main band) genomic DNA.
sequence-specific DNA binding Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6B0B8 TIGD3 Tigger transposable element-derived protein 3 Homo sapiens (Human) PR
10 20 30 40 50 60
MGPKRRQLTF REKSRIIQEV EENPDLRKGE IARRFNIPPS TLSTILKNKR AILASERKYG
70 80 90 100 110 120
VASTCRKTNK LSPYDKLEGL LIAWFQQIRA AGLPVKGIIL KEKALRIAEE LGMDDFTASN
130 140 150 160 170 180
GWLDRFRRRH GVVSCSGVAR ARARNAAPRT PAAPASPAAV PSEGSGGSTT GWRAREEQPP
190 200 210 220 230 240
SVAEGYASQD VFSATETSLW YDFLPDQAAG LCGGDGRPRQ ATQRLSVLLC ANADGSEKLP
250 260 270 280 290 300
PLVAGKSAKP RAGQAGLPCD YTANSKGGVT TQALAKYLKA LDTRMAAESR RVLLLAGRLA
310 320 330 340 350 360
AQSLDTSGLR HVQLAFFPPG TVHPLERGVV QQVKGHYRQA MLLKAMAALE GQDPSGLQLG
370 380 390 400 410 420
LTEALHFVAA AWQAVEPSDI AACFREAGFG GGPNATITTS LKSEGEEEEE EEEEEEEEEG
430 440 450 460 470 480
EGEEEEEEGE EEEEEGGEGE ELGEEEEVEE EGDVDSDEEE EEDEESSSEG LEAEDWAQGV
490 500 510 520 530 540
VEAGGSFGAY GAQEEAQCPT LHFLEGGEDS DSDSEEEDDE EEDDEDEDDD DDEEDGDEVP
550 560 570 580 590
VPSFGEAMAY FAMVKRYLTS FPIDDRVQSH ILHLEHDLVH VTRKNHARQA GVRGLGHQS