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 Q9Y580

Entry ID Method Resolution Chain Position Source
2M8H NMR - A 6-94 PDB
5IQQ X-ray 252 A A/B/C/D/E 1-91 PDB
5LXR X-ray 200 A A 1-86 PDB
5LXY X-ray 285 A A/B/E/G/I/K/M 1-86 PDB
7S7B EM 406 A C/G 7-86 PDB
7S7C EM 362 A C 7-86 PDB
AF-Q9Y580-F1 Predicted AlphaFoldDB

185 variants for Q9Y580

Variant ID(s) Position Change Description Diseaes Association Provenance
rs774329256
CA6285805
2 G>R No ClinGen
ExAC
gnomAD
CA382679524
rs1203693799
3 A>P No ClinGen
TOPMed
gnomAD
CA382679529
rs1448072131
4 A>T No ClinGen
gnomAD
CA382679538
rs368320968
5 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368320968
CA6285809
5 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368320968
CA6285808
5 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6285810
rs775080859
6 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1233892762
CA382679548
7 E>G No ClinGen
TOPMed
rs1165949207
CA382679556
8 A>G No ClinGen
gnomAD
rs1267361877
CA382679560
9 D>H No ClinGen
gnomAD
rs376690569
CA6285812
10 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376690569
CA382679566
10 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA382679567
rs143550249
10 R>H No ClinGen
ESP
ExAC
gnomAD
rs143550249
CA6285814
10 R>L No ClinGen
ESP
ExAC
gnomAD
CA6285813
rs376690569
10 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs190030485
CA6285817
11 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs148035426
CA6285818
11 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs190030485
CA382679569
11 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA6285820
rs755231508
12 L>V No ClinGen
ExAC
gnomAD
rs11543047
CA228728258
13 F>L No ClinGen
Ensembl
CA228728262
rs1033738658
14 V>M No ClinGen
TOPMed
gnomAD
rs749095109
CA6285822
15 G>S No ClinGen
ExAC
gnomAD
rs770762090
CA6285823
18 E>D No ClinGen
ExAC
gnomAD
CA228728274
rs958509263
20 K>T No ClinGen
TOPMed
CA228728282
rs921940985
22 T>A No ClinGen
gnomAD
rs921940985
CA382679635
22 T>S No ClinGen
gnomAD
rs1298404811
CA382679740
35 P>S No ClinGen
gnomAD
rs1369700835
CA382679748
36 V>A No ClinGen
gnomAD
TCGA novel 38 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1246488532
CA382679768
38 K>Q No ClinGen
gnomAD
CA6285846
rs768095341
41 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA6285848
rs747825571
43 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1235710598
CA382679892
44 D>E No ClinGen
gnomAD
rs1367559410
CA382679889
44 D>V No ClinGen
TOPMed
rs1434378066
CA382679918
46 D>H No ClinGen
TOPMed
rs1305853073
CA382680000
50 K>N No ClinGen
gnomAD
rs1206633178
CA382680020
51 Q>H No ClinGen
gnomAD
rs1343958427
CA382680141
58 K>R No ClinGen
TOPMed
rs201324300
CA382680158
59 H>Q No ClinGen
TOPMed
gnomAD
CA6285850
rs766198070
65 Y>* No ClinGen
ExAC
gnomAD
CA382680269
COSM540903
rs1454517755
67 M>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA382680293
rs1185877114
68 N>S No ClinGen
gnomAD
CA228728714
rs534184694
74 K>R No ClinGen
1000Genomes
gnomAD
rs1025460990
CA228728717
75 L>F No ClinGen
gnomAD
CA382680371
rs1025460990
75 L>V No ClinGen
gnomAD
rs763477337
CA6285852
78 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA6285853
rs766894526
78 R>S No ClinGen
ExAC
gnomAD
VAR_082580 79 P>R found in a patient with a form of spinal muscular atrophy; unknown pathological significance [UniProt] No UniProt
rs774769202
CA6285854
81 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs981241452
CA228728724
85 R>S No ClinGen
Ensembl
rs767522434
CA382680444
86 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA6285856
rs767522434
86 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA6285875
rs775549354
88 S>N No ClinGen
ExAC
gnomAD
rs760804891
CA6285876
89 S>G No ClinGen
ExAC
gnomAD
CA6285877
rs764282163
90 H>R No ClinGen
ExAC
gnomAD
rs1223059411
CA382680802
92 P>L No ClinGen
gnomAD
TCGA novel 94 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758154213
COSM1351425
CA6285880
96 S>G large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA6285881
rs766110528
96 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1484407503
CA382680894
97 L>F No ClinGen
gnomAD
rs1256647768
CA382680889
97 L>W No ClinGen
gnomAD
CA382681039
rs1466543835
107 S>P No ClinGen
gnomAD
rs540109621
CA6285883
110 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA382681074
rs1406285510
112 T>I No ClinGen
gnomAD
rs1159796541
CA382681080
113 S>F No ClinGen
TOPMed
gnomAD
rs748979044
CA6285888
114 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs553325407
CA228730221
116 R>S No ClinGen
TOPMed
gnomAD
rs528528235
CA6285903
117 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs528528235
CA6285904
117 Y>N No ClinGen
1000Genomes
ExAC
gnomAD
CA6285907
rs756862051
118 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs753479874
CA6285906
118 E>K Variant assessed as Somatic; 4.788e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs547208464
CA6285910
119 R>S No ClinGen
1000Genomes
ExAC
gnomAD
CA382681723
rs1274758320
120 T>I No ClinGen
gnomAD
rs780501658
CA6285911
121 M>T No ClinGen
ExAC
gnomAD
CA228730269
rs777959689
121 M>V No ClinGen
Ensembl
rs1199713420
CA382681735
122 D>G No ClinGen
gnomAD
rs768664850
CA6285913
124 M>T No ClinGen
ExAC
gnomAD
rs1057166979
CA228730271
125 T>S No ClinGen
Ensembl
CA6285914
rs776697572
126 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA382681781
rs1475165030
129 Q>R No ClinGen
gnomAD
rs769897060
CA6285916
130 I>V No ClinGen
ExAC
gnomAD
rs1565261311
CA382681799
132 Q>E No ClinGen
Ensembl
CA382681826
rs1466312246
135 F>L No ClinGen
gnomAD
rs201717789
CA6285918
136 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382681835
rs1447977095
137 S>Y No ClinGen
TOPMed
COSM1561080
rs752632231
CA6285920
138 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs760698015
CA6285921
139 E>K No ClinGen
ExAC
gnomAD
rs1158677590
CA382681850
140 N>H No ClinGen
TOPMed
TCGA novel 142 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6285922
rs763627981
144 Q>R No ClinGen
ExAC
gnomAD
CA382681896
COSM540902
rs1197876807
146 V>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1192298489
CA382681993
147 M>I No ClinGen
TOPMed
CA382681982
rs1340620326
147 M>L No ClinGen
gnomAD
rs760609996
CA6285943
150 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA6285944
rs565722182
154 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA382682130
rs1180690440
155 S>P No ClinGen
TOPMed
rs776672227
CA6285945
156 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA382682207
rs1257810143
160 F>L No ClinGen
TOPMed
CA6285946
rs761192208
162 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA6285947
rs764829483
162 S>Y No ClinGen
ExAC
gnomAD
rs1203923609
CA382682241
164 P>L No ClinGen
gnomAD
CA382682252
rs1398698243
166 D>E No ClinGen
gnomAD
rs758051944
CA382682248
166 D>N No ClinGen
ExAC
gnomAD
rs758051944
CA6285949
166 D>Y No ClinGen
ExAC
gnomAD
rs1425755491
CA382682335
172 P>L No ClinGen
gnomAD
rs1188042796
CA382682356
174 V>I No ClinGen
TOPMed
gnomAD
rs1188042796
CA382682358
174 V>L No ClinGen
TOPMed
gnomAD
CA382682398
rs1363040917
176 S>* No ClinGen
gnomAD
TCGA novel 178 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA382682459
rs1160238585
179 H>Q No ClinGen
gnomAD
rs781519121
CA6285954
179 H>R No ClinGen
ExAC
gnomAD
CA382682463
rs1361017270
180 S>G No ClinGen
gnomAD
rs368476669
CA6285955
182 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6285956
rs756098040
183 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1310520341
CA382682526
183 Q>R No ClinGen
gnomAD
COSM125795
CA228731108
rs944272961
184 S>F upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1415539423
CA382682592
187 S>Y No ClinGen
TOPMed
CA6285958
rs749400330
188 Q>R No ClinGen
ExAC
gnomAD
rs771270717
COSM923297
CA6285959
190 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs79339992
CA6285960
190 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376442758
CA228731123
193 T>I No ClinGen
ESP
TOPMed
gnomAD
rs537118955
CA6285961
194 P>S No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 195 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6285962
rs200274481
197 Q>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA382682711
rs1278240694
197 Q>R No ClinGen
gnomAD
rs761823586
CA6285965
198 R>C No ClinGen
ExAC
TOPMed
gnomAD
COSM295184
CA6285966
rs772778246
198 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772778246
CA382682717
198 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs761823586
CA6285964
198 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs765997028
CA6285968
200 V>L No ClinGen
ExAC
gnomAD
rs1188201858
CA382682733
201 R>* No ClinGen
TOPMed
CA6285970
rs748265184
201 R>S No ClinGen
ExAC
gnomAD
CA6285972
rs753084134
206 P>S No ClinGen
ExAC
gnomAD
CA382682782
rs1254683898
208 L>V No ClinGen
TOPMed
CA382682787
rs1393867281
209 A>T No ClinGen
gnomAD
CA228731170
rs767285454
209 A>V No ClinGen
Ensembl
rs3781986
CA6285976
212 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs778209684
CA6285975
212 H>Y No ClinGen
ExAC
CA6285978
rs779238918
215 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs142687993
CA6285977
215 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 216 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369282205
CA6285980
217 Q>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 217 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6285981
rs11543050
218 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772286712
CA6285982
218 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA228731201
rs11543050
218 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs539783045
CA6285983
220 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs111474125
CA228731216
221 D>G No ClinGen
Ensembl
CA6285984
rs371576672
222 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA382682880
rs376078417
223 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376078417
CA6285985
223 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773941198
CA6285987
225 D>E No ClinGen
ExAC
gnomAD
RCV001091033
rs1946284961
226 H>R No ClinVar
dbSNP
CA382682907
rs1427093587
227 H>R No ClinGen
gnomAD
rs759196426
CA6285988
228 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1169112946
CA382682930
230 G>V No ClinGen
gnomAD
rs1466838369
CA382682935
231 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 232 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6285990
rs369732805
232 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel
CA382682968
rs1478294996
235 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
gnomAD
CA6285991
rs753101100
237 Y>C No ClinGen
ExAC
gnomAD
CA382682981
rs753101100
237 Y>S No ClinGen
ExAC
gnomAD
CA382682990
rs879029123
238 E>D No ClinGen
gnomAD
rs777999213
CA6285992
239 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 241 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA6285994
rs764638996
242 H>R No ClinGen
ExAC
gnomAD
CA6285996
rs757365374
243 D>H No ClinGen
ExAC
gnomAD
CA382683030
rs1220718696
244 D>Y No ClinGen
gnomAD
TCGA novel 246 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474651341
CA382683057
247 H>R No ClinGen
TOPMed
CA382683073
rs1467869611
249 Y>C No ClinGen
gnomAD
rs750607699
CA382683082
250 D>E No ClinGen
ExAC
gnomAD
CA6285997
rs779148823
250 D>N No ClinGen
ExAC
gnomAD
TCGA novel 251 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758645695
CA6285999
252 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs758645695
CA382683094
252 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs747955530
CA6286001
256 S>G No ClinGen
ExAC
gnomAD
CA382683124
rs1241512547
256 S>T No ClinGen
TOPMed
rs769519996
CA6286002
261 W>G No ClinGen
ExAC
gnomAD
CA6286003
rs373571346
262 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749242719
CA6286004
262 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA382683174
rs1273539978
263 S>L No ClinGen
TOPMed
rs541868847
CA6286005
264 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA382683185
rs1352159220
265 R>* No ClinGen
gnomAD
rs199909173
CA228731292
COSM923298
265 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD

No associated diseases with Q9Y580

2 regional properties for Q9Y580

Type Name Position InterPro Accession
domain RNA recognition motif domain 10 - 87 IPR000504
domain RBM7, RNA recognition motif 9 - 83 IPR034500

Functions

Description
EC Number
Subcellular Localization
  • Nucleus, nucleoplasm
  • Nucleus
  • Excluded from the nucleolus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
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.

5 GO annotations of molecular function

Name Definition
14-3-3 protein binding Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins.
pre-mRNA intronic binding Binding to an intronic sequence of a pre-messenger RNA (pre-mRNA).
RNA binding Binding to an RNA molecule or a portion thereof.
single-stranded RNA binding Binding to single-stranded RNA.
snRNA binding Binding to a small nuclear RNA (snRNA).

3 GO annotations of biological process

Name Definition
meiotic cell cycle Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
regulation of alternative mRNA splicing, via spliceosome Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
snRNA catabolic process The chemical reactions and pathways resulting in the breakdown of snRNA, small nuclear RNA, low-molecular-mass RNA molecules found in the eukaryotic nucleus as components of the small nuclear ribonucleoprotein.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9CQT2 Rbm7 RNA-binding protein 7 Mus musculus (Mouse) PR
10 20 30 40 50 60
MGAAAAEADR TLFVGNLETK VTEELLFELF HQAGPVIKVK IPKDKDGKPK QFAFVNFKHE
70 80 90 100 110 120
VSVPYAMNLL NGIKLYGRPI KIQFRSGSSH APQDVSLSYP QHHVGNSSPT STSPSRYERT
130 140 150 160 170 180
MDNMTSSAQI IQRSFSSPEN FQRQAVMNSA LRQMSYGGKF GSSPLDQSGF SPSVQSHSHS
190 200 210 220 230 240
FNQSSSSQWR QGTPSSQRKV RMNSYPYLAD RHYSREQRYT DHGSDHHYRG KRDDFFYEDR
250 260
NHDDWSHDYD NRRDSSRDGK WRSSRH