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

1 structures for Q8NEK8

Entry ID Method Resolution Chain Position Source
AF-Q8NEK8-F1 Predicted AlphaFoldDB

194 variants for Q8NEK8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10461436
rs747484824
2 S>F No ClinGen
ExAC
gnomAD
CA413742764
rs1180055460
7 T>I No ClinGen
TOPMed
CA10461438
rs777296127
8 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs17855533
CA331814065
10 T>A No ClinGen
Ensembl
CA413742787
rs1258045947
11 W>L No ClinGen
TOPMed
CA413742816
rs1180834617
15 I>V No ClinGen
gnomAD
CA413742823
rs1569376798
16 T>A No ClinGen
Ensembl
rs1412013907
CA413742826
16 T>R No ClinGen
gnomAD
TCGA novel 18 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461439
rs759757458
18 D>Y No ClinGen
ExAC
gnomAD
rs370538052
CA10461440
22 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1031757178
CA331814067
22 D>H No ClinGen
Ensembl
rs773874789
CA10461441
24 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1263083696
CA413742949
34 P>L No ClinGen
TOPMed
gnomAD
rs151135944
CA331814068
CA331814069
36 M>I No ClinGen
ESP
TOPMed
gnomAD
rs766993924
CA10461443
36 M>V No ClinGen
ExAC
gnomAD
rs749977497
CA10461444
37 E>D No ClinGen
ExAC
gnomAD
rs955765761
CA331814070
40 P>S No ClinGen
Ensembl
rs766257081
CA10461446
COSM3845458
42 D>Y Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA10461447
rs140244380
45 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1313284280
CA413743032
47 V>M No ClinGen
gnomAD
TCGA novel 49 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413743053
rs1243369308
50 Q>E No ClinGen
gnomAD
TCGA novel 52 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461448
rs375165939
53 G>E No ClinGen
ESP
ExAC
gnomAD
TCGA novel 54 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461451
rs368099663
57 I>M No ClinGen
ESP
ExAC
gnomAD
rs780229845
CA331814071
59 K>R No ClinGen
Ensembl
CA331814072
rs914512365
60 D>N No ClinGen
Ensembl
TCGA novel 60 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461455
rs137952753
67 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs746458461
CA10461456
73 A>E No ClinGen
ExAC
gnomAD
CA10461458
rs372407342
76 N>S No ClinGen
ESP
ExAC
gnomAD
rs1374230339
CA413743240
78 I>V No ClinGen
TOPMed
gnomAD
rs1428845173
CA413743249
79 S>N No ClinGen
gnomAD
CA10461459
rs375689010
80 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 83 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA331814074
rs992431399
COSM252500
85 V>I ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1292959702
CA413743298
86 I>S No ClinGen
gnomAD
rs1463001407
CA413743296
86 I>V No ClinGen
TOPMed
CA413743315
rs1368926663
88 G>D No ClinGen
gnomAD
TCGA novel 88 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201702381
CA10461461
93 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141007953
CA10461463
COSM1125786
95 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413743386
rs1263515934
COSM1125787
99 V>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 101 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461464
rs753705045
103 A>S No ClinGen
ExAC
gnomAD
CA331814076
rs113640425
104 V>A No ClinGen
Ensembl
rs754990371
CA10461465
105 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1188512085
CA413743431
106 D>A No ClinGen
TOPMed
CA331814077
rs186689398
108 L>P No ClinGen
1000Genomes
CA331814078
rs768827836
109 L>P No ClinGen
TOPMed
gnomAD
rs150129047
CA10461468
111 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 113 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs189602496
CA10461471
114 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs781393813
CA10461472
115 D>Y No ClinGen
ExAC
gnomAD
rs1422907488
CA413743508
117 K>N No ClinGen
gnomAD
CA10461475
rs780459324
119 E>G No ClinGen
ExAC
gnomAD
rs1459491585
CA413743533
121 L>I No ClinGen
TOPMed
gnomAD
rs1287697168
CA413743542
122 S>F No ClinGen
TOPMed
gnomAD
CA10461476
rs749617118
123 P>A No ClinGen
ExAC
gnomAD
CA10461477
rs769022513
123 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs779051485
CA10461478
125 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs374685215
CA413743585
128 D>E No ClinGen
ESP
TOPMed
gnomAD
rs1569376984
CA413743587
129 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10461480
rs188396741
131 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 132 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461482
rs758997189
137 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA331814082
rs765171207
139 N>K No ClinGen
ExAC
gnomAD
rs201318635
CA331814081
139 N>S No ClinGen
Ensembl
CA10461484
rs752587473
141 H>R No ClinGen
ExAC
gnomAD
rs1249626200
CA413743687
143 C>S No ClinGen
TOPMed
gnomAD
rs1443036303
CA413743703
145 S>N No ClinGen
gnomAD
TCGA novel 147 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA331814083
rs1008391005
153 T>A No ClinGen
gnomAD
rs1008391005
CA413743755
153 T>S No ClinGen
gnomAD
TCGA novel 154 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 160 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 161 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 167 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 171 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413743933
rs1569377031
178 I>V No ClinGen
Ensembl
rs750478659
CA10461490
179 V>F No ClinGen
ExAC
CA10461492
rs780554117
182 P>S No ClinGen
ExAC
gnomAD
rs749800137
CA10461493
183 M>V No ClinGen
ExAC
gnomAD
rs1113265
VAR_028980
CA10461495
185 D>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10461494
rs143862091
185 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 186 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461496
rs746631425
187 Y>C No ClinGen
ExAC
gnomAD
TCGA novel 190 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 191 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs140859426
CA10461497
193 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1285833898
CA413744041
193 K>R No ClinGen
gnomAD
TCGA novel 194 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461498
rs776167652
197 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA413744076
rs1228884980
198 S>F No ClinGen
TOPMed
gnomAD
CA10461499
rs61755189
199 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10461501
rs775490438
201 V>A No ClinGen
ExAC
gnomAD
CA413744090
rs1198117082
201 V>I No ClinGen
gnomAD
CA10461502
rs763046111
203 V>A No ClinGen
ExAC
gnomAD
CA331814084
rs959936581
203 V>I No ClinGen
gnomAD
rs959936581
CA413744101
203 V>L No ClinGen
gnomAD
rs763963851
CA10461503
207 M>T No ClinGen
ExAC
gnomAD
rs139370296
CA331814085
207 M>V No ClinGen
ESP
CA413744139
rs1162047609
208 Y>F No ClinGen
gnomAD
TCGA novel 212 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs112952835
CA331814086
212 Q>R No ClinGen
Ensembl
rs1177167865
CA413744191
215 M>I No ClinGen
TOPMed
gnomAD
CA331814087
rs774402950
220 H>Q No ClinGen
1000Genomes
CA413744238
rs1442580536
222 L>I No ClinGen
TOPMed
rs1449721198
CA413744245
223 I>V No ClinGen
gnomAD
CA10461507
rs750626708
226 R>K No ClinGen
ExAC
gnomAD
TCGA novel 228 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1290197935
CA413744301
231 I>F No ClinGen
gnomAD
TCGA novel 237 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 238 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754320744
CA10461510
244 V>I No ClinGen
ExAC
gnomAD
CA413744450
rs1330089419
252 M>I No ClinGen
TOPMed
CA413744452
rs1279017345
253 S>P No ClinGen
gnomAD
CA10461511
rs755519479
COSM1558823
256 K>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA413744484
rs1177074819
257 N>T No ClinGen
gnomAD
CA413744505
rs1203339422
260 R>H No ClinGen
gnomAD
COSM1125790
CA413744552
rs1389660181
266 F>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 267 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413744562
rs1398521393
268 I>V No ClinGen
TOPMed
rs867317346
CA331814088
269 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs779425399
CA413744599
273 I>L No ClinGen
ExAC
gnomAD
rs779425399
CA10461512
273 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs908650103
CA331814089
277 Q>K No ClinGen
TOPMed
gnomAD
CA413744631
rs1465389705
277 Q>R No ClinGen
TOPMed
rs767337141
COSM1570012
CA10461513
278 K>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
rs1569377132
CA413744638
278 K>T No ClinGen
Ensembl
CA413744691
rs1375674137
285 H>Q No ClinGen
TOPMed
CA413744697
COSM1125791
rs1184424430
286 N>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 288 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413744757
rs1477950275
294 T>I No ClinGen
gnomAD
rs1602226737
CA413744823
303 H>R No ClinGen
Ensembl
rs1166375789
CA413744873
310 T>S No ClinGen
TOPMed
gnomAD
CA10461515
rs780828007
311 V>L No ClinGen
ExAC
CA413744897
rs770805267
314 M>R No ClinGen
gnomAD
rs770805267
CA331814091
314 M>T No ClinGen
gnomAD
rs745569596
CA10461516
316 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs745569596
CA331814092
316 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs1569377170
CA413744917
317 E>Q No ClinGen
Ensembl
CA10461519
rs749210548
324 L>R No ClinGen
ExAC
gnomAD
CA413744979
rs1275347687
326 T>A No ClinGen
TOPMed
gnomAD
CA413744980
rs1275347687
326 T>S No ClinGen
TOPMed
gnomAD
rs1369514964
CA413744992
327 M>I No ClinGen
gnomAD
CA10461521
COSM1558822
rs774454958
328 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
CA10461520
rs768676599
328 M>R No ClinGen
ExAC
gnomAD
rs369436155
CA10461524
340 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1200263892
CA413745077
341 N>D No ClinGen
gnomAD
CA10461526
rs766451023
341 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10461527
rs200280082
342 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA10461528
rs201641735
344 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 349 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413745145
CA413745146
rs1373395298
350 Q>H No ClinGen
TOPMed
TCGA novel 350 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461529
rs765671795
350 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs776148348
CA10461530
353 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1158108919
CA413745191
357 A>V No ClinGen
TOPMed
CA413745201
rs1302690239
359 A>S No ClinGen
gnomAD
rs1343731241
CA413745209
360 R>T No ClinGen
gnomAD
CA10461532
rs778054141
361 Y>H No ClinGen
ExAC
gnomAD
CA10461533
rs745515047
363 I>T No ClinGen
ExAC
gnomAD
CA331814095
rs765852551
364 Y>N No ClinGen
1000Genomes
rs1351532398
CA413745240
365 V>I No ClinGen
gnomAD
rs1225823486
CA413745258
368 E>K No ClinGen
gnomAD
TCGA novel 369 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779886301
CA10461537
370 P>L No ClinGen
ExAC
gnomAD
CA10461536
rs755766205
370 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA413745273
rs755766205
370 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs748762113
CA10461538
371 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs768296665
CA10461539
COSM1469579
372 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1284909928
CA413745289
373 S>N No ClinGen
TOPMed
CA10461540
rs774366777
373 S>R No ClinGen
ExAC
CA10461541
rs748101488
374 F>S No ClinGen
ExAC
gnomAD
rs376757382
CA10461542
377 Y>C No ClinGen
ESP
ExAC
gnomAD
CA413745314
rs1352237872
377 Y>H No ClinGen
TOPMed
CA10461543
rs772919719
378 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs760549896
CA10461544
378 H>Q No ClinGen
ExAC
gnomAD
CA413745323
rs1208526491
378 H>Y No ClinGen
gnomAD
rs17855532
CA331814096
382 F>L No ClinGen
Ensembl
rs776851281
CA413745352
382 F>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1558821
CA10461547
rs199636557
383 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10461548
rs765366405
383 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA413745353
rs199636557
383 R>S No ClinGen
ExAC
gnomAD
rs1163273853
CA413745360
384 G>E No ClinGen
gnomAD
rs538071284
CA331814097
385 S>L No ClinGen
Ensembl
CA10461549
rs759085757
385 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA10461550
rs763415283
386 N>S No ClinGen
ExAC
gnomAD
TCGA novel 387 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10461551
rs145427021
388 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413745400
rs1339554927
390 S>L No ClinGen
TOPMed

No associated diseases with Q8NEK8

No regional properties for Q8NEK8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8NEK8

Functions

Description
EC Number 2.7.7.19 Nucleotidyltransferases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

2 GO annotations of molecular function

Name Definition
polynucleotide adenylyltransferase activity Catalysis of the template-independent extension of the 3'- end of an RNA or DNA strand by addition of one adenosine molecule at a time. Cannot initiate a chain 'de novo'. The primer, depending on the source of the enzyme, may be an RNA or DNA fragment, or oligo(A) bearing a 3'-OH terminal group.
RNA adenylyltransferase activity Catalysis of the template-independent extension of the 3'- end of an RNA strand by addition of one adenosine molecule at a time. Cannot initiate a chain 'de novo'. The primer, depending on the source of the enzyme, may be an RNA, or oligo(A) bearing a 3'-OH terminal group.

1 GO annotations of biological process

Name Definition
mRNA stabilization Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MSEIRFTNLT WDQVITLDQV LDEVIPIHGK GNFPTMEVKP KDIIHVVKDQ LIGQGIIVKD
70 80 90 100 110 120
ARLNGSVASY ILASHNGISY KDLDVIFGVE LPGNEEFQVV KDAVLDCLLD FLPKDVKKEK
130 140 150 160 170 180
LSPDIMKDAY VQKLVKVCNG HDCWSLISLS NNTGKNLELK FVSSLRRQFE FSVDSFQIVL
190 200 210 220 230 240
DPMLDFYSDK NAKLTKESYP VVVAESMYGD FQEAMTHLQH KLICTRKPEE IRGGGLLKYC
250 260 270 280 290 300
SLLVHGFKPA CMSEIKNLER YMCSRFFIDF PHIEEQQKKI ESYLHNHFIG EGMTKYDYLM
310 320 330 340 350 360
TLHGVVNEST VCLMSYERRQ ILHLITMMAL KVLGELNILP NTQKVTCFYQ PAPYFAAEAR
370 380
YPIYVIPEPP PVSFQPYHPL HFRGSNGMS