Q13242
Gene name |
SRSF9 (SFRS9, SRP30C) |
Protein name |
Serine/arginine-rich splicing factor 9 |
Names |
KP43, Killer cell lectin-like receptor subfamily D member 1, NK cell receptor, Pre-mRNA-splicing factor SRp30C, Splicing factor, arginine/serine-rich 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8683 |
EC number |
|
Protein Class |
|
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
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. |
| 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 |