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

3 structures for Q99598

Entry ID Method Resolution Chain Position Source
3PJA X-ray 300 A J/K/L 1-290 PDB
3QB5 X-ray 295 A K 1-290 PDB
AF-Q99598-F1 Predicted AlphaFoldDB

182 variants for Q99598

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345341725
rs1227388030
7 S>L No ClinGen
gnomAD
rs1319462174
CA345341744
10 F>L No ClinGen
TOPMed
CA1453270
rs201535941
11 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1462181060
CA345341762
13 R>K No ClinGen
gnomAD
rs953094494
CA39313233
14 K>N No ClinGen
Ensembl
rs1056232468
CA39313234
15 H>R No ClinGen
TOPMed
rs1000997476
CA39313235
16 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
RCV000891355
CA1453272
rs144584692
17 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs781694916
CA1453274
19 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs748769707
CA1453275
20 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA39313237
rs11559026
22 Q>* No ClinGen
Ensembl
rs1380485002
CA345341828
22 Q>H No ClinGen
gnomAD
rs756734169
CA1453276
22 Q>R No ClinGen
ExAC
gnomAD
rs1558115664
CA345341829
23 R>G No ClinGen
Ensembl
CA345341857
rs1212399424
27 K>E No ClinGen
gnomAD
rs1283831955
CA345341867
28 D>Y No ClinGen
TOPMed
CA39313238
rs747020107
29 V>I No ClinGen
Ensembl
rs746984160
CA1453282
32 S>F No ClinGen
ExAC
gnomAD
rs746984160
CA345341895
32 S>Y No ClinGen
ExAC
gnomAD
CA1453284
rs199769657
34 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345341905
rs1215872911
34 P>S No ClinGen
TOPMed
rs1293399840
CA345341918
36 M>T No ClinGen
TOPMed
CA39313239
rs143038752
38 A>T No ClinGen
ESP
TOPMed
rs893818608 41 S>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs768442482
CA1453301
42 F>S No ClinGen
ExAC
gnomAD
CA39314186
rs1012297675
43 Q>R No ClinGen
TOPMed
gnomAD
CA1453302
rs183434354
48 A>E No ClinGen
1000Genomes
ExAC
gnomAD
CA39314187
rs183434354
48 A>G No ClinGen
1000Genomes
ExAC
gnomAD
rs371162355
CA39314188
50 H>R No ClinGen
Ensembl
rs773241491
CA1453305
51 D>G No ClinGen
ExAC
gnomAD
rs762977792
CA1453306
55 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA345342065
rs1301719579
55 R>I No ClinGen
gnomAD
CA345342063
rs1301719579
55 R>K No ClinGen
gnomAD
rs766607406
CA1453307
56 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1240407829
CA345342078
57 V>G No ClinGen
gnomAD
TCGA novel 58 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774496340
CA1453308
61 R>G No ClinGen
ExAC
gnomAD
rs774496340
CA1453309
61 R>W No ClinGen
ExAC
gnomAD
CA1453310
rs767919069
63 I>M No ClinGen
ExAC
gnomAD
TCGA novel 64 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 66 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345342135
rs1239568408
66 E>V No ClinGen
gnomAD
rs753202892
CA1453311
67 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA345342138
rs1292560195
67 S>R No ClinGen
gnomAD
CA1453312
rs753202892
67 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs764881773
CA1453313
69 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA1453315
rs757936141
71 I>M No ClinGen
ExAC
gnomAD
rs749986409
CA1453314
71 I>V No ClinGen
ExAC
gnomAD
TCGA novel 74 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345342193
rs1437711581
75 H>R No ClinGen
gnomAD
rs779867950
CA1453316
77 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA345342212
rs1385273685
78 T>S No ClinGen
TOPMed
gnomAD
CA345342219
rs1227246082
79 S>N No ClinGen
TOPMed
rs761382545
CA1453341
82 D>N No ClinGen
ExAC
gnomAD
CA1453342
rs375022282
83 M>T No ClinGen
ESP
ExAC
gnomAD
rs747164945
CA1453343
86 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1316664309
CA345340236
86 I>V No ClinGen
TOPMed
rs1572115636
CA345340251
88 T>I No ClinGen
Ensembl
rs369133346
CA345340277
92 I>F No ClinGen
ESP
TOPMed
gnomAD
CA1453345
rs771056384
92 I>T No ClinGen
ExAC
gnomAD
CA39314742
rs369133346
92 I>V No ClinGen
ESP
TOPMed
gnomAD
rs1263756207
CA345340291
94 L>* No ClinGen
gnomAD
rs1383353473
CA345340299
95 D>G No ClinGen
TOPMed
CA345340296
rs1403022385
95 D>N No ClinGen
TOPMed
CA1453346
rs372784677
96 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1453347
rs746117139
97 V>A No ClinGen
ExAC
gnomAD
rs1425326818
CA345340309
97 V>I No ClinGen
TOPMed
rs772372056
CA1453348
99 Q>E No ClinGen
ExAC
gnomAD
rs1428779847
CA345340324
99 Q>R No ClinGen
gnomAD
rs1558125382
CA345340332
100 K>R No ClinGen
Ensembl
rs892421074
CA39314743
101 I>L No ClinGen
Ensembl
rs761137587
CA1453350
102 F>L No ClinGen
ExAC
gnomAD
rs976727040
CA39314744
103 Q>R No ClinGen
TOPMed
rs769077257
CA1453351
105 A>V No ClinGen
ExAC
gnomAD
rs758918758
CA1453356
110 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1384152627
CA345340410
112 D>G No ClinGen
gnomAD
rs150826166
CA39314745
112 D>Y No ClinGen
ESP
rs752223523
CA1453358
113 M>I No ClinGen
ExAC
gnomAD
rs767211115
CA1453357
113 M>T No ClinGen
ExAC
gnomAD
rs763862746
CA1453360
114 H>Q No ClinGen
ExAC
gnomAD
CA1453359
rs755968071
114 H>Y No ClinGen
ExAC
gnomAD
CA1453361
rs753821248
115 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1572115834
CA345340433
115 Q>H No ClinGen
Ensembl
COSM210320
rs757155042
CA345340450
118 R>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs757155042
CA1453362
118 R>G No ClinGen
ExAC
gnomAD
rs1327306485
CA345340453
118 R>Q No ClinGen
gnomAD
rs757662645
CA39314746
120 I>F No ClinGen
Ensembl
rs778677444
CA1453363
122 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs745984318
CA1453364
122 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 123 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39316972
rs954489279
128 V>G No ClinGen
TOPMed
CA39316973
rs929212910
132 S>C No ClinGen
Ensembl
CA345340567
rs1335712167
134 Q>R No ClinGen
gnomAD
CA345340579
rs1165640475
136 F>I No ClinGen
gnomAD
CA1453383
rs756999364
137 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs765236626
CA1453384
139 T>A No ClinGen
ExAC
gnomAD
rs750263571
CA39316974
140 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750263571
CA1453385
140 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA345340607
rs758573869
140 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM3804325
COSM3804324
rs758573869
CA1453386
140 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 143 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779987602
CA1453387
144 S>N No ClinGen
ExAC
gnomAD
CA1453389
rs755278086
145 M>R No ClinGen
ExAC
gnomAD
CA345340676
rs1252203573
150 K>E No ClinGen
gnomAD
CA345340702
rs1445778412
153 I>M No ClinGen
TOPMed
gnomAD
CA1453394
rs773834413
153 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA39316975
rs367646519
154 F>S No ClinGen
ESP
COSM3724001
CA1453395
COSM3724002
rs760939212
155 T>M upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345340714
rs760939212
155 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA345340712
rs1445375967
155 T>S No ClinGen
gnomAD
CA39316976
rs947882979
157 E>K No ClinGen
TOPMed
CA1453398
rs145493559
159 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163829764
CA345340743
160 G>R No ClinGen
gnomAD
rs1558138779
CA345340765
163 N>H No ClinGen
Ensembl
rs768705359 164 K>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs372798782
CA39316977
165 T>N No ClinGen
ESP
CA345340781
rs1467136209
165 T>P No ClinGen
TOPMed
gnomAD
CA345340803
rs1276589577
166 P>T No ClinGen
gnomAD
CA1453440
rs776335200
168 S>A No ClinGen
ExAC
gnomAD
CA39317313
rs980900170
168 S>C No ClinGen
gnomAD
CA345340830
rs1445795951
170 A>V No ClinGen
TOPMed
rs769683037
CA1453442
176 G>D No ClinGen
ExAC
gnomAD
CA1453443
rs772856706
177 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1191266088
CA345340879
177 T>S No ClinGen
gnomAD
rs1422606447
CA345340892
179 R>K No ClinGen
gnomAD
CA345340907
rs1353064555
181 R>S No ClinGen
Ensembl
rs189489803
CA1453444
182 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766429793
CA1453445
184 P>L No ClinGen
ExAC
gnomAD
CA345340931
rs1289941262
186 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA345340939
rs1422953437
187 Y>N No ClinGen
gnomAD
CA39317314
rs949404482
190 G>E No ClinGen
TOPMed
rs767689300
CA1453448
192 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1453449
rs753011195
193 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756257776
CA1453450
197 E>A No ClinGen
ExAC
gnomAD
CA345341024
rs1346467821
200 R>Q No ClinGen
gnomAD
rs778015919
CA1453451
200 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 201 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 202 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1453452
rs754176844
203 I>F No ClinGen
ExAC
gnomAD
CA1453453
rs757585498
206 V>L No ClinGen
ExAC
gnomAD
CA39317316
rs181169848
208 N>D No ClinGen
1000Genomes
CA345341081
rs1344891056
208 N>I No ClinGen
gnomAD
CA1453454
rs779399170
211 I>T No ClinGen
ExAC
gnomAD
rs1558141216
CA345341113
213 T>A No ClinGen
Ensembl
rs1351825073
CA345341119
214 P>A No ClinGen
gnomAD
CA1453457
rs768216336
219 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA345341158
COSM3977194
rs1452025202
219 Q>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1453458
rs780661031
221 L>S No ClinGen
ExAC
gnomAD
rs769366885
CA1453461
222 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs762657262
CA1453462
222 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs769366885
CA1453460
222 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA1453463
rs770843314
223 Q>H No ClinGen
ExAC
gnomAD
CA345341182
rs1365088199
223 Q>R No ClinGen
gnomAD
CA345341190
rs1572155878
224 V>G No ClinGen
Ensembl
rs1451497711
CA345341196
225 Y>F No ClinGen
gnomAD
CA1453464
rs774485592
226 D>V No ClinGen
ExAC
gnomAD
TCGA novel 227 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1572155897
CA345341214
228 F>V No ClinGen
Ensembl
CA345341225
rs1157612542
229 S>L No ClinGen
gnomAD
rs1407481145
CA345341238
231 I>T No ClinGen
gnomAD
CA39317319
rs1048476383
235 G>R No ClinGen
TOPMed
gnomAD
CA345341280
rs1311562437
238 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 239 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39317320
rs781186877
247 K>T No ClinGen
Ensembl
TCGA novel 249 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs568025672
CA1453469
251 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1199114030
CA345341432
259 A>D No ClinGen
gnomAD
TCGA novel 260 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750966099
CA1453473
261 K>E No ClinGen
ExAC
gnomAD
CA1453475
rs780557987
269 K>Q No ClinGen
ExAC
gnomAD
rs770241132
CA1453476
270 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs777351433
CA1453478
271 M>T No ClinGen
ExAC
gnomAD
CA345341521
rs1466614815
272 L>S No ClinGen
gnomAD
rs1337184662
CA345341534
274 D>G No ClinGen
TOPMed
CA345341589
rs1398733775
282 M>K No ClinGen
gnomAD
rs1398733775
CA345341590
282 M>T No ClinGen
gnomAD
CA39317321
rs1039923749
284 D>A No ClinGen
TOPMed
gnomAD
CA345341605
rs1039923749
284 D>G No ClinGen
TOPMed
gnomAD
CA345341610
rs1355055944
COSM533214
285 Q>E lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1315792010
CA345341621
286 E>G No ClinGen
gnomAD
rs1231949062
CA345341641
289 I>F No ClinGen
Ensembl

No associated diseases with Q99598

No regional properties for Q99598

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q99598

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, perinuclear region
  • Golgi apparatus
  • Nucleus
  • Accumulate in the Golgi complex of mid-late pachytene spermatocytes (By similarity)
  • Expressed in the cytoplasm in the presence of TSN
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
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.
endoribonuclease complex A protein complex which is capable of endoribonuclease activity.
Golgi apparatus A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.

8 GO annotations of molecular function

Name Definition
A2A adenosine receptor binding Binding to an A2A adenosine receptor.
DNA binding Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
endoribonuclease activity Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks.
metal ion binding Binding to a metal ion.
protein-containing complex binding Binding to a macromolecular complex.
RNA binding Binding to an RNA molecule or a portion thereof.
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.
single-stranded DNA binding Binding to single-stranded DNA.

3 GO annotations of biological process

Name Definition
cell differentiation The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
siRNA processing A process leading to the generation of a functional small interfering RNA (siRNA). Includes the cleavage of double-stranded RNA to form small interfering RNA molecules (siRNAs) of 21-23 nucleotides. May also include amplification of the siRNA by RNA-directed RNA polymerase.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9QZE7 Tsnax Translin-associated protein X Mus musculus (Mouse) PR
10 20 30 40 50 60
MSNKEGSGGF RKRKHDNFPH NQRREGKDVN SSSPVMLAFK SFQQELDARH DKYERLVKLS
70 80 90 100 110 120
RDITVESKRT IFLLHRITSA PDMEDILTES EIKLDGVRQK IFQVAQELSG EDMHQFHRAI
130 140 150 160 170 180
TTGLQEYVEA VSFQHFIKTR SLISMDEINK QLIFTTEDNG KENKTPSSDA QDKQFGTWRL
190 200 210 220 230 240
RVTPVDYLLG VADLTGELMR MCINSVGNGD IDTPFEVSQF LRQVYDGFSF IGNTGPYEVS
250 260 270 280
KKLYTLKQSL AKVENACYAL KVRGSEIPKH MLADVFSVKT EMIDQEEGIS