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 Q13242

Entry ID Method Resolution Chain Position Source
AF-Q13242-F1 Predicted AlphaFoldDB

119 variants for Q13242

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1186390648
CA386584253
2 S>W No ClinGen
gnomAD
rs779113084
CA6828572
3 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs757706169
CA6828571
5 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA6828570
rs375455136
5 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1319557272
CA386584211
6 D>A No ClinGen
TOPMed
rs936740323
CA244480304
6 D>E No ClinGen
TOPMed
gnomAD
rs926657643
CA244480296
7 E>V No ClinGen
TOPMed
gnomAD
rs761268364
CA6828568
8 R>P No ClinGen
ExAC
gnomAD
rs1565918414
CA386584181
9 G>D No ClinGen
Ensembl
CA386584161
rs1592994299
11 E>K No ClinGen
Ensembl
CA6828565
rs762674115
12 G>A No ClinGen
ExAC
gnomAD
CA6828566
rs528772255
12 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA6828560
rs768537684
19 G>V No ClinGen
ExAC
gnomAD
TCGA novel 20 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1167746878
CA386584032
22 P>L No ClinGen
gnomAD
rs374780024
CA6828558
25 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6828557
rs772176841
26 R>C No ClinGen
ExAC
gnomAD
rs1197713806
CA386583990
27 E>K No ClinGen
gnomAD
rs1197713806
CA386583988
27 E>Q No ClinGen
gnomAD
CA386583969
rs1250789428
28 K>R No ClinGen
gnomAD
CA386583971
rs1250789428
28 K>T No ClinGen
gnomAD
CA386583943
rs1336838568
30 L>F No ClinGen
gnomAD
rs1293906218
CA386583934
31 E>G No ClinGen
gnomAD
rs1367454528
CA386583939
31 E>Q No ClinGen
gnomAD
CA6828551
rs200055366
32 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6828553
rs754164143
32 D>N No ClinGen
ExAC
gnomAD
TCGA novel 35 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145350287
CA6828548
35 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1397316277
CA386583868
37 Y>H No ClinGen
gnomAD
rs764890661
CA386583845
39 R>H No ClinGen
ExAC
gnomAD
CA6828546
rs764890661
39 R>P No ClinGen
ExAC
gnomAD
rs1592994218
CA386583840
40 I>V No ClinGen
Ensembl
rs1017747664
CA244480206
41 R>C No ClinGen
TOPMed
CA6828545
rs761380426
42 E>Q No ClinGen
ExAC
gnomAD
rs1184462290
CA386583808
43 I>V No ClinGen
gnomAD
CA6828539
rs745901220
48 R>P No ClinGen
ExAC
gnomAD
rs745901220
CA386583743
48 R>Q No ClinGen
ExAC
gnomAD
CA6828541
rs11548262
48 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA6828537
rs771143682
53 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs749494544
CA6828536
57 V>L No ClinGen
ExAC
gnomAD
rs1304498175
CA386583647
58 R>C No ClinGen
gnomAD
CA6828535
rs756587823
61 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1461341163
CA386583595
63 R>G No ClinGen
gnomAD
rs748662220
CA6828533
63 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773441188
CA6828483
66 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1445525577
CA386582486
78 G>V No ClinGen
TOPMed
rs368613719
CA6828480
81 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA386582384
rs1191247439
83 R>L No ClinGen
gnomAD
CA386582344
rs1485838742
85 E>A No ClinGen
gnomAD
rs766309580
CA244477275
87 P>S No ClinGen
Ensembl
CA386582296
rs1256559379
88 R>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA6828478
rs749575527
90 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs748728409
CA6828476
93 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs748728409
CA6828475
93 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778110680
CA244477252
93 R>W No ClinGen
Ensembl
rs1565917169
CA386582220
94 G>S No ClinGen
Ensembl
CA386582173
rs1339292774
96 W>* No ClinGen
gnomAD
CA386582176
rs1339292774
96 W>C No ClinGen
gnomAD
rs1276932808
CA386582150
98 R>C No ClinGen
gnomAD
rs372846202
CA6828474
98 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA6828473
rs755713912
99 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA244477231
rs755713912
99 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs781010036
CA6828471
102 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA6828470
rs754798032
104 P>T No ClinGen
ExAC
gnomAD
rs751502897
CA6828469
109 S>T No ClinGen
ExAC
gnomAD
rs1404129514
CA386581259
120 P>L No ClinGen
TOPMed
rs1408867312
CA386581239
121 S>L No ClinGen
gnomAD
rs199677891
CA244476194
125 Q>* No ClinGen
1000Genomes
CA6828446
rs762055178
137 V>I No ClinGen
ExAC
gnomAD
rs1338319321
CA386580978
140 A>V No ClinGen
Ensembl
rs200633374
CA244476140
143 Q>R No ClinGen
1000Genomes
CA244476132
rs368340216
144 K>N No ClinGen
ExAC
gnomAD
CA244476135
rs1039523251
144 K>Q No ClinGen
Ensembl
CA6828442
rs775678993
145 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA6828441
rs767909905
147 V>M No ClinGen
ExAC
gnomAD
rs760013988
CA6828440
149 M>I No ClinGen
ExAC
gnomAD
rs1262147988
CA386580841
150 V>A No ClinGen
TOPMed
CA244476095
rs909022001
154 R>T No ClinGen
Ensembl
rs1291650108
CA386580719
158 M>V No ClinGen
gnomAD
rs752594381
CA244476090
159 E>D No ClinGen
Ensembl
CA386580636
rs1158142117
163 R>H No ClinGen
gnomAD
rs776216215
CA6828436
167 D>E No ClinGen
ExAC
gnomAD
TCGA novel 167 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201631930
CA6828434
171 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA6828433
rs374865867
171 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1334997585
CA386579858
179 Y>H No ClinGen
TOPMed
CA244474588
rs749288623
181 R>* No ClinGen
ExAC
gnomAD
rs777693373
CA6828405
181 R>Q No ClinGen
ExAC
gnomAD
CA386579796
rs1170525466
184 P>S No ClinGen
gnomAD
CA244474577
rs148192217
190 Y>C No ClinGen
ESP
TOPMed
CA6828402
rs201844994
192 Y>* No ClinGen
ExAC
gnomAD
CA386579714
rs1423438628
192 Y>C No ClinGen
gnomAD
rs752857364
CA6828403
192 Y>H No ClinGen
ExAC
gnomAD
rs1592989913
CA386579692
194 R>P No ClinGen
Ensembl
CA6828401
rs755203606
195 S>A No ClinGen
ExAC
rs1179019404
CA386579674
196 R>Q No ClinGen
gnomAD
rs1592989898
CA386579662
197 S>A No ClinGen
Ensembl
CA386579642
rs1592989889
199 S>A No ClinGen
Ensembl
rs1459351343
CA386579621
201 G>S No ClinGen
TOPMed
CA6828399
rs766758485
202 R>C No ClinGen
ExAC
gnomAD
CA6828398
rs139360328
COSM430510
202 R>H Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA386579564
rs1273558571
206 Y>N No ClinGen
gnomAD
rs750984394
CA6828397
208 S>N No ClinGen
ExAC
gnomAD
CA386579524
rs1256013029
209 R>G No ClinGen
TOPMed
CA386579522
rs1338335039
209 R>K No ClinGen
gnomAD
CA386579519
rs1338335039
209 R>M No ClinGen
gnomAD
rs763511362
CA6828396
209 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA6828394
rs775156072
210 G>D No ClinGen
ExAC
gnomAD
CA6828395
rs760167949
210 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs759295143
CA6828392
212 P>S No ClinGen
ExAC
gnomAD
rs774258544
CA6828391
213 H>Q No ClinGen
ExAC
gnomAD
CA244474475
rs940710190
213 H>R No ClinGen
TOPMed
gnomAD
CA6828389
rs370436477
215 F>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA244474462
rs776930825
216 S>C No ClinGen
gnomAD
CA244474451
rs776930825
216 S>F No ClinGen
gnomAD
CA386579427
rs1419929391
218 F>V No ClinGen
gnomAD
CA6828387
rs769622746
220 P>L No ClinGen
ExAC
gnomAD
rs1253624010
CA386579385
221 Y>* No ClinGen
TOPMed
gnomAD
rs748166545
CA6828386
222 Y>W No ClinGen
ExAC
gnomAD

No associated diseases with Q13242

4 regional properties for Q13242

Type Name Position InterPro Accession
domain RNA recognition motif domain 14 - 89 IPR000504-1
domain RNA recognition motif domain 111 - 187 IPR000504-2
domain SRSF9, RNA recognition motif 1 15 - 86 IPR034503
domain SRSF9, RNA recognition motif 2 104 - 186 IPR034995

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Cellular stresses such as heat shock may induce localization to discrete nuclear bodies termed SAM68 nuclear bodies (SNBs), HAP bodies, or stress bodies
  • Numerous splicing factors including SRSF1/SFRS1/SF2, SRSF7/SFRS7, SAFB and KHDRBS1/SAM68 accumulate at these structures, which may participate in the post-transcriptional regulation of mRNAs in stressed cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.

2 GO annotations of molecular function

Name Definition
protein domain specific binding Binding to a specific domain of a protein.
RNA binding Binding to an RNA molecule or a portion thereof.

7 GO annotations of biological process

Name Definition
alternative mRNA splicing, via spliceosome The process of generating multiple mRNA molecules from a given set of exons by differential use of exons from the primary transcript(s) to form multiple mature mRNAs that vary in their exon composition.
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.
mRNA splice site selection Selection of a splice site by components of the assembling spliceosome.
mRNA splicing, via spliceosome The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
negative regulation of mRNA splicing, via spliceosome Any process that stops, prevents or reduces the rate or extent of mRNA splicing via a spliceosomal mechanism.
response to alkaloid Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an alkaloid stimulus. Alkaloids are a large group of nitrogenous substances found in naturally in plants, many of which have extracts that are pharmacologically active.
response to toxic substance Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9D0B0 Srsf9 Serine/arginine-rich splicing factor 9 Mus musculus (Mouse) PR
Q5PPI1 Srsf9 Serine/arginine-rich splicing factor 9 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSGWADERGG EGDGRIYVGN LPTDVREKDL EDLFYKYGRI REIELKNRHG LVPFAFVRFE
70 80 90 100 110 120
DPRDAEDAIY GRNGYDYGQC RLRVEFPRTY GGRGGWPRGG RNGPPTRRSD FRVLVSGLPP
130 140 150 160 170 180
SGSWQDLKDH MREAGDVCYA DVQKDGVGMV EYLRKEDMEY ALRKLDDTKF RSHEGETSYI
190 200 210 220
RVYPERSTSY GYSRSRSGSR GRDSPYQSRG SPHYFSPFRP Y