AiPD: Autoinhibited Protein Database

Q13243

Gene name	SRSF5 (HRS, SFRS5, SRP40)
Protein name	Serine/arginine-rich splicing factor 5
Names	Delayed-early protein HRS, Pre-mRNA-splicing factor SRP40, Splicing factor, arginine/serine-rich 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6430
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

180-266 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

180-266 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q13243

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13243-F1	Predicted				AlphaFoldDB

199 variants for Q13243

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7245472 rs368252076	2	S>N		No	ClinGen ESP ExAC gnomAD
rs199666297 CA7245473	4	C>W		No	ClinGen ExAC gnomAD
CA7245474 rs75518500	5	R>G		No	ClinGen ExAC gnomAD
CA390208946 rs75518500	5	R>W		No	ClinGen ExAC gnomAD
CA7245475 rs749244832	6	V>G		No	ClinGen ExAC gnomAD
rs1034262054 CA262974796	8	I>V		No	ClinGen TOPMed gnomAD
rs1594748327 CA390209033	10	R>G		No	ClinGen Ensembl
rs768687477 CA7245476	12	N>S		No	ClinGen ExAC gnomAD
rs1374126988 CA390209101	13	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778826668 CA7245477	14	A>S		No	ClinGen ExAC gnomAD
CA7245478 rs149960633	14	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466021855 CA390209128	15	A>V		No	ClinGen TOPMed gnomAD
CA390209154 rs1594748413	17	E>G		No	ClinGen Ensembl
CA262974824 rs888206883	18	K>E		No	ClinGen Ensembl
rs1594748445 CA390209181	19	D>G		No	ClinGen Ensembl
CA390209206 rs1594748474	20	V>G		No	ClinGen Ensembl
rs1329679455 CA390209191	20	V>L		No	ClinGen TOPMed
rs1594748481 CA390209225	21	E>G		No	ClinGen Ensembl
CA262974834 rs80169659 COSM1678087	26	G>*	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs80169659 CA262974832	26	G>R		No	ClinGen Ensembl
CA262974849 rs1013896791	29	R>Q		No	ClinGen TOPMed gnomAD
rs777232426 CA7245483	32	D>E		No	ClinGen ExAC TOPMed gnomAD
CA390209481 rs1329768425	32	D>G		No	ClinGen gnomAD
rs1006618537 CA262974852	33	I>T		No	ClinGen gnomAD
CA390209598 rs1210246912	38	G>S		No	ClinGen gnomAD
CA262975237 rs907871314	47	P>A		No	ClinGen TOPMed
CA7245525 rs770221793	47	P>R		No	ClinGen ExAC TOPMed gnomAD
CA390210013 rs1208396253	56	E>D		No	ClinGen TOPMed gnomAD
CA390210190 rs1594749508	64	S>N		No	ClinGen Ensembl
TCGA novel	65	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7245554 rs759207761	69	I>V		No	ClinGen ExAC gnomAD
rs375239004 CA7245555	71	H>R		No	ClinGen ESP ExAC gnomAD
rs1487221274 CA390210332	75	R>W		No	ClinGen TOPMed gnomAD
CA390210363 rs1393808147	77	R>L		No	ClinGen gnomAD
rs775353762 CA7245556	80	R>G		No	ClinGen ExAC gnomAD
CA7245557 rs762851170	80	R>I		No	ClinGen ExAC gnomAD
CA7245558 rs373582502	81	G>S		No	ClinGen ESP ExAC gnomAD
CA7245559 rs751573884	82	R>G		No	ClinGen ExAC gnomAD
rs761932526 CA7245560	84	R>G		No	ClinGen ExAC gnomAD
rs750508395 CA7245562	86	S>P		No	ClinGen ExAC gnomAD
rs1467710301 CA390210506	87	D>E		No	ClinGen TOPMed
rs564129276 CA7245563 COSM1370798	88	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs527958448 CA262975441	90	S>N		No	ClinGen Ensembl
rs754174307 CA7245565 COSM1242825	92	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754174307 CA390210579	92	R>G		No	ClinGen ExAC gnomAD
rs149440957 CA7245566	92	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1172221 rs1001493919 CA262975466	94	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1001493919 CA390210611	94	P>R		No	ClinGen gnomAD
rs1306101069 CA390210615	95	R>G		No	ClinGen TOPMed
rs1594750092 CA390210665	98	R>G		No	ClinGen Ensembl
rs1159744213 CA390210678	99	R>*		No	ClinGen gnomAD
CA7245617 rs141618226	101	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	102	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746899808 CA7245619	102	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390210731 rs1456169719	103	P>L		No	ClinGen gnomAD
rs996604039 CA262976015	104	V>I		No	ClinGen TOPMed gnomAD
CA390210748 rs1447408562	106	T>R		No	ClinGen gnomAD
TCGA novel	108	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM433299 rs1381655941 CA390210768	109	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs776691250 CA7245621	111	I>V		No	ClinGen ExAC gnomAD
TCGA novel	113	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	118	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1397445740 CA390212071	126	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	131	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390212224 rs1388529660	135	T>M		No	ClinGen gnomAD
CA7245655 rs759069069	137	A>V		No	ClinGen ExAC gnomAD
TCGA novel	140	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	141	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2148504 CA262976856	142	P>L		No	ClinGen Ensembl
rs1594753577 CA390212335	142	P>S		No	ClinGen Ensembl
CA390212368 rs777542840	143	K>N		No	ClinGen ExAC gnomAD
rs781493759 CA262976862	143	K>R		No	ClinGen Ensembl
TCGA novel	145	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773710569 CA7245697	148	V>G		No	ClinGen ExAC gnomAD
CA7245701 rs762334743	154	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs773770557 CA7245703	157	L>V		No	ClinGen ExAC TOPMed gnomAD
rs767212275 CA7245705	158	K>Q		No	ClinGen ExAC gnomAD
VAR_014713 rs1057683 CA262977370	160	A>S		No	ClinGen UniProt Ensembl dbSNP
CA262977371 rs771556081	161	I>V		No	ClinGen Ensembl
rs750159616 CA390213088	163	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1461859950 CA390213116	164	L>F		No	ClinGen TOPMed
rs1207123666 CA390213394	177	I>V		No	ClinGen TOPMed
rs754920463 CA7245710	180	S>G		No	ClinGen ExAC gnomAD
CA390213486 rs1181240884	181	K>R		No	ClinGen gnomAD
CA262977390 rs745579864	182	R>K		No	ClinGen Ensembl
rs1420874421 CA390213538	183	H>Q		No	ClinGen gnomAD
rs1249505415 CA390213521	183	H>Y		No	ClinGen gnomAD
CA7245740 rs781612280	189	R>K		No	ClinGen ExAC gnomAD
CA7245741 rs200493113	189	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs781612280 CA7245739	189	R>T		No	ClinGen ExAC gnomAD
CA7245742 rs373934670	191	R>*		No	ClinGen ESP ExAC gnomAD
rs747616404 CA7245743	191	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747616404 CA262977534	191	R>P		No	ClinGen ExAC TOPMed gnomAD
CA390213777 rs747616404	191	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771592153 CA7245744	192	S>Y		No	ClinGen ExAC gnomAD
CA7245746 rs760345318	193	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772758166 CA7245745	193	R>W		No	ClinGen ExAC TOPMed gnomAD
rs144700248 CA7245748	194	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA390213791 rs1367224838	195	R>G		No	ClinGen gnomAD
rs746574236 CA262977554	195	R>T		No	ClinGen Ensembl
rs1463542262 CA390213798	196	S>G		No	ClinGen gnomAD
rs1289597990 CA390213809	197	S>F		No	ClinGen Ensembl
rs759265261 CA7245749	197	S>P		No	ClinGen ExAC gnomAD
rs1387926232 CA390213816	199	R>G		No	ClinGen TOPMed gnomAD
rs147893895 CA7245750	201	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs879099126 COSM1188854 CA262977576	201	R>H	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs879099126 CA262977579	201	R>L		No	ClinGen TOPMed
rs763081161 CA7245753	203	R>L		No	ClinGen ExAC gnomAD
rs763081161 COSM957342 CA7245752	203	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA390213852 rs1332582034	205	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA390213850 rs1332582034	205	R>G		No	ClinGen TOPMed gnomAD
rs141668513 CA7245754	205	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141668513 CA390213857	205	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7245756 rs757484947	207	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757484947 CA7245755	207	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1707504 CA262977594 rs916711770	207	R>H	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA390213872 rs757484947	207	R>S		No	ClinGen ExAC TOPMed gnomAD
CA390213898 rs1594755099	208	S>R		No	ClinGen Ensembl
CA7245757 rs549213868	209	R>C		No	ClinGen ExAC TOPMed gnomAD
rs549213868 CA7245758	209	R>G		No	ClinGen ExAC TOPMed gnomAD
rs780489147 CA7245759	209	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390213900 rs549213868	209	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7245760 rs749771691	210	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1265006691 CA390213937	211	S>C		No	ClinGen TOPMed
rs1594755138 CA390213946	212	Y>S		No	ClinGen Ensembl
CA7245763 rs201759888	214	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs981843005 CA390213983	214	R>L		No	ClinGen TOPMed
CA262977648 rs981843005	214	R>Q		No	ClinGen TOPMed
CA7245762 rs201759888	214	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7245769 rs770560916	216	R>S		No	ClinGen ExAC TOPMed
rs375993522 CA390214072	220	R>G		No	ClinGen ESP TOPMed
CA7245776 rs759338362	222	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7245775 rs199730353	222	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201625721 CA262977697	224	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7245778 rs775479132	224	R>Q		No	ClinGen ExAC gnomAD
rs201625721 CA7245777	224	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390214151 rs1477181147	225	S>N		No	ClinGen TOPMed
CA7245779 rs762956881	226	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs371196399 CA7245780	227	S>C		No	ClinGen ESP ExAC gnomAD
rs371196399 CA262977716	227	S>F		No	ClinGen ESP ExAC gnomAD
CA7245782 rs751597035	228	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7245783 rs751597035	228	R>G		No	ClinGen ExAC TOPMed gnomAD
CA262977733 rs944123566	228	R>H		No	ClinGen TOPMed gnomAD
CA390214193 rs944123566	228	R>L		No	ClinGen TOPMed gnomAD
CA7245781 rs751597035	228	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756406477 CA7245785	229	S>A		No	ClinGen ExAC gnomAD
CA390214211 rs1316997326	230	V>I		No	ClinGen gnomAD
TCGA novel	231	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766697535 CA7245786	234	P>L		No	ClinGen ExAC TOPMed gnomAD
rs142745234 CA7245789	235	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7245788 rs142745234	235	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA390214332 rs1179020394	238	K>E		No	ClinGen gnomAD
rs769614996 CA7245794	238	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7245793 rs745489527	238	K>R		No	ClinGen ExAC gnomAD
CA262977776 rs888384310	239	S>N		No	ClinGen TOPMed
CA262977781 rs200485730	239	S>R		No	ClinGen Ensembl
CA7245795 rs141092744	240	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs141092744 CA7245796	240	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs768645508 CA7245797	240	Q>R		No	ClinGen ExAC gnomAD
CA390214396 rs1313309637	242	R>C		No	ClinGen gnomAD
COSM1225476 CA7245798 rs774183630	242	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA390214400 rs774183630	242	R>P		No	ClinGen ExAC gnomAD
rs761901235 CA7245799	246	S>G		No	ClinGen ExAC TOPMed gnomAD
rs372075917 CA7245800	246	S>I		No	ClinGen ESP ExAC gnomAD
CA390214455 rs372075917	246	S>N		No	ClinGen ESP ExAC gnomAD
CA390214472 rs773380718	247	R>S		No	ClinGen ExAC TOPMed gnomAD
CA390214467 rs1412890780	247	R>T		No	ClinGen TOPMed
CA262977803 rs765005080	248	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7245802 rs765005080	248	S>F		No	ClinGen ExAC TOPMed gnomAD
CA390214484 rs765005080	248	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1274454012 CA390214495	249	K>E		No	ClinGen gnomAD
rs1207169348 CA390214527	250	S>C		No	ClinGen gnomAD
rs200697483 CA7245806	251	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA262977854 rs1003610562	252	A>T		No	ClinGen TOPMed
TCGA novel	253	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7245807 rs374041886	255	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	255	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454913064 CA390214586	255	D>G		No	ClinGen gnomAD
rs375411132 CA262977855	255	D>Y		No	ClinGen gnomAD
rs199600880 CA7245808	256	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7245809 rs758996473	256	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA390214597 rs758996473	256	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1355083558 CA390214608	257	Q>R		No	ClinGen TOPMed gnomAD
CA390214649 rs1323380187	259	S>C		No	ClinGen gnomAD
CA7245814 rs191376708	260	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188021188 CA7245812	260	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs866134831 CA262977881	261	S>F		No	ClinGen Ensembl
CA7245817 rs371988941	262	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	262	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768604986 CA7245818	262	R>Q		No	ClinGen ExAC gnomAD
CA390214700 rs1382199508	264	R>K		No	ClinGen TOPMed
CA262977904 rs748013818	266	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772106154 CA7245821	266	R>I		No	ClinGen ExAC gnomAD
CA7245822 rs773160960	268	V>A		No	ClinGen ExAC gnomAD
CA390214813 rs1156691497	271	G>D		No	ClinGen TOPMed
CA7245825 rs145814413	272	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7245827 rs765484731	272	N>I		No	ClinGen ExAC gnomAD
CA262977950 rs765484731	272	N>S		No	ClinGen ExAC gnomAD
CA7245826 rs145814413	272	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q13243

2 regional properties for Q13243

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	4 - 74	IPR000504-1
domain	RNA recognition motif domain	108 - 181	IPR000504-2

Functions

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

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

3 GO annotations of molecular function

Name	Definition
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
protein kinase B binding	Binding to protein kinase B, an intracellular kinase that is important in regulating glucose metabolism.
RNA binding	Binding to an RNA molecule or a portion thereof.

7 GO annotations of biological process

Name	Definition
cellular response to insulin stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
liver regeneration	The regrowth of lost or destroyed liver.
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.
positive regulation of RNA splicing	Any process that activates or increases the frequency, rate or extent of RNA splicing.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MSGCRVFIGR	LNPAAREKDV	ERFFKGYGRI	RDIDLKRGFG	FVEFEDPRDA	DDAVYELDGK
70	80	90	100	110	120
ELCSERVTIE	HARARSRGGR	GRGRYSDRFS	SRRPRNDRRN	APPVRTENRL	IVENLSSRVS
130	140	150	160	170	180
WQDLKDFMRQ	AGEVTFADAH	RPKLNEGVVE	FASYGDLKNA	IEKLSGKEIN	GRKIKLIEGS
190	200	210	220	230	240
KRHSRSRSRS	RSRTRSSSRS	RSRSRSRSRK	SYSRSRSRSR	SRSRSKSRSV	SRSPVPEKSQ
250	260	270
KRGSSSRSKS	PASVDRQRSR	SRSRSRSVDS	GN