AiPD: Autoinhibited Protein Database

Q96I25

Gene name	RBM17 (SPF45)
Protein name	Splicing factor 45
Names	45 kDa-splicing factor, RNA-binding motif protein 17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84991
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

124-258 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

124-258 (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

5 structures for Q96I25

Entry ID	Method	Resolution	Chain	Position	Source
2PE8	X-ray	200 A	A	301-401	PDB
2PEH	X-ray	211 A	A/B	301-401	PDB
5LSO	X-ray	222 A	A/B	301-400	PDB
6HIP	X-ray	120 A	A/B	301-401	PDB
AF-Q96I25-F1	Predicted				AlphaFoldDB

177 variants for Q96I25

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5397597 rs778801739	5	D>G		No	ClinGen ExAC gnomAD
CA5397596 rs754791552	5	D>N		No	ClinGen ExAC gnomAD
TCGA novel	6	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA202315132 rs1022094848	8	G>R		No	ClinGen TOPMed gnomAD
rs369073008 CA202315137	11	T>P		No	ClinGen ESP
CA375926786 rs1305361184	12	S>N		No	ClinGen gnomAD
CA5397599 rs757842585	14	S>A		No	ClinGen ExAC gnomAD
rs1381861519 CA375926872	16	T>A		No	ClinGen gnomAD
TCGA novel	16	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	24	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375927108 rs1360102529	27	Q>E		No	ClinGen gnomAD
TCGA novel	28	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224695237 CA375927146	29	Q>H		No	ClinGen gnomAD
CA375927234 rs1269099008	36	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	42	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758301231 CA5397617	45	T>M		No	ClinGen ExAC gnomAD
COSM539503 rs746490028 CA5397619	48	S>G	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA375928273 rs1350046926	48	S>I		No	ClinGen TOPMed
CA5397622 rs780966136	60	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5397621 rs780966136	60	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5397623 rs780000465	63	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5397624 rs377370168	66	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176062063 CA375928556	66	R>W		No	ClinGen gnomAD
CA375928628 rs1329141411	70	D>G		No	ClinGen gnomAD
rs926591083 CA202318399	71	T>A		No	ClinGen Ensembl
rs926591083 CA375928643	71	T>P		No	ClinGen Ensembl
CA5397625 rs748535463	71	T>S		No	ClinGen ExAC gnomAD
rs773621306 CA5397627	72	P>L		No	ClinGen ExAC gnomAD
rs773621306 CA375928662	72	P>R		No	ClinGen ExAC gnomAD
CA5397630 rs373376643	73	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5397629 rs766411097	73	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1196243705 CA375928694	75	V>L		No	ClinGen gnomAD
CA5397632 rs765462755	79	L>R		No	ClinGen ExAC TOPMed
rs1192063358 CA375929744	81	D>N		No	ClinGen TOPMed
rs769966706 CA5397649	83	V>I		No	ClinGen ExAC gnomAD
rs775714728 CA5397650	84	P>H		No	ClinGen ExAC gnomAD
rs775714728 CA375929868	84	P>L		No	ClinGen ExAC gnomAD
CA375929860 rs1418880917	84	P>S		No	ClinGen gnomAD
rs762783739 CA5397651	85	S>G		No	ClinGen ExAC TOPMed gnomAD
rs762783739 CA375929871	85	S>R		No	ClinGen ExAC TOPMed gnomAD
CA375929891 rs1363675864	86	G>R		No	ClinGen gnomAD
TCGA novel	87	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375929926 rs1197634912	88	S>P		No	ClinGen TOPMed
rs763831757 CA5397652	89	A>S		No	ClinGen ExAC
rs751506838 CA5397653	91	E>Q		No	ClinGen ExAC gnomAD
rs761709664 CA5397654	92	V>L		No	ClinGen ExAC gnomAD
rs1489034509 CA375930070	95	P>H		No	ClinGen Ensembl
rs1251265656 CA375930078	96	L>I		No	ClinGen TOPMed
TCGA novel	99	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758786664 CA5397660	103	M>T		No	ClinGen ExAC gnomAD
rs753474883 CA5397659	103	M>V		No	ClinGen ExAC TOPMed gnomAD
CA202321030 rs377701497	104	F>L		No	ClinGen ESP TOPMed
CA202321029 rs200872049	104	F>L		No	ClinGen 1000Genomes
rs778058356 CA5397661 COSM919196	107	D>E	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375930466 rs1389206158	110	K>Q		No	ClinGen TOPMed
CA5397662 rs747414195	111	V>I		No	ClinGen ExAC gnomAD
rs771365351 CA5397663	112	V>L		No	ClinGen ExAC gnomAD
rs771365351 CA5397664	112	V>M		No	ClinGen ExAC gnomAD
rs1395120854 CA375930622	114	R>C		No	ClinGen TOPMed
CA5397666 rs770290110	114	R>H		No	ClinGen ExAC gnomAD
CA5397665 rs770290110	114	R>L		No	ClinGen ExAC gnomAD
TCGA novel	120	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201913283 CA5397668	121	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773958740 CA5397670	123	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA375930877 rs1386849054	125	L>M		No	ClinGen gnomAD
CA375931014 rs761703891	130	E>D		No	ClinGen ExAC gnomAD
rs767521350 CA5397672	132	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	134	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375931115 rs1345451823	135	E>G		No	ClinGen gnomAD
rs780062896 CA5397696	138	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5397697 rs775938505	142	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1230452797 CA375931626	144	A>V		No	ClinGen gnomAD
rs1261514695 CA375931640	145	S>G		No	ClinGen gnomAD
CA5397698 rs759121037	146	G>V		No	ClinGen ExAC TOPMed gnomAD
rs747217457 CA202321713	147	F>C		No	ClinGen Ensembl
CA5397699 rs764751483	148	A>T		No	ClinGen ExAC gnomAD
TCGA novel	150	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372728406 CA375931826	150	R>T		No	ClinGen TOPMed
rs1181047055 CA375931846	151	P>Q		No	ClinGen gnomAD
rs1233238047 CA375931875	153	P>A		No	ClinGen gnomAD
COSM465798 CA5397702 rs147926684	159	E>D	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA202321742 rs890179202	161	Y>D		No	ClinGen TOPMed gnomAD
rs371677234 CA5397703	163	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5397704 rs756550580	164	E>D		No	ClinGen ExAC gnomAD
rs868650171 CA202323680	170	M>I		No	ClinGen Ensembl
CA375932394 rs1290758182	171	G>S		No	ClinGen gnomAD
rs1211208175 CA375932400	172	G>R		No	ClinGen gnomAD
rs1588349851 CA375932407	173	A>P		No	ClinGen Ensembl
rs754980855 CA5397728	176	A>P		No	ClinGen ExAC
TCGA novel	177	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186620181 CA375932433	177	P>Q		No	ClinGen Ensembl
rs141782513 CA5397729	178	P>S		No	ClinGen ESP ExAC
CA375932443 rs1487877996	179	T>A		No	ClinGen gnomAD
rs1193303686 CA375932445	179	T>N		No	ClinGen gnomAD
rs1270572026 CA375932509	184	K>R		No	ClinGen gnomAD
rs1162294223 CA375932540	186	K>E		No	ClinGen gnomAD
rs368547331 CA202323706	186	K>R		No	ClinGen ESP TOPMed gnomAD
rs983923087 CA202323711	187	E>A		No	ClinGen TOPMed gnomAD
CA5397747 rs752785300	189	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5397749 rs778122809	190	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA375933410 rs1359552132	192	F>C		No	ClinGen TOPMed
CA5397750 rs751873508	192	F>I		No	ClinGen ExAC gnomAD
CA202324841 rs947729942	198	S>L		No	ClinGen Ensembl
CA375933629 rs1239297665	200	P>S		No	ClinGen gnomAD
rs1303376462 CA375933646	201	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA375933668 rs1216764713	202	S>T		No	ClinGen gnomAD
rs1588350605 CA375933733	205	S>P		No	ClinGen Ensembl
CA5397753 rs149022692	206	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5397754 rs769701493	207	A>P		No	ClinGen ExAC gnomAD
CA375933798 rs1162057643	209	I>V		No	ClinGen TOPMed
TCGA novel	210	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375933825 rs1462452198	211	P>T		No	ClinGen TOPMed
rs1191285298 CA375933847	212	P>A		No	ClinGen TOPMed
rs1219598528 CA375933851	212	P>R		No	ClinGen gnomAD
CA375933877 rs1418879722	215	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs538717999 CA202324892	216	E>G		No	ClinGen 1000Genomes
CA202324887 rs372850758	216	E>K		No	ClinGen ESP
CA375933916 rs1183088534	220	P>A		No	ClinGen TOPMed gnomAD
CA5397757 rs768204127	220	P>L		No	ClinGen ExAC gnomAD
CA375933918 rs768204127	220	P>Q		No	ClinGen ExAC gnomAD
CA5397759 rs376906335	224	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1028936023 CA202324912	224	T>S		No	ClinGen TOPMed gnomAD
CA375933949 rs1296437390	226	P>T		No	ClinGen gnomAD
TCGA novel	227	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375933967 rs1391765461	228	N>S		No	ClinGen gnomAD
CA375933991 rs1343278771	232	A>T		No	ClinGen gnomAD
TCGA novel	234	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375934260 rs1247515202	239	A>V		No	ClinGen gnomAD
CA5397784 rs776141370	244	Q>R		No	ClinGen ExAC gnomAD
rs1045914645 CA202326377	251	G>S		No	ClinGen Ensembl
CA202326404 rs1054619341	262	S>I		No	ClinGen TOPMed
TCGA novel	264	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766228705 CA5397792	272	K>R		No	ClinGen ExAC gnomAD
CA5397793 rs753761759	273	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1244464792 CA375934736	273	R>H		No	ClinGen gnomAD
rs757896052 CA5397797	279	V>M		No	ClinGen ExAC TOPMed gnomAD
CA202326483 rs1045876438 COSM458812	281	D>N	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs770273356 COSM179406 CA5397800	282	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs569161504 CA5397801	283	T>A		No	ClinGen ExAC TOPMed gnomAD
CA375934890 rs1241583167	284	E>V		No	ClinGen gnomAD
rs1564570186 CA375935147	287	A>G		No	ClinGen Ensembl
rs1337341378 CA375935138	287	A>T		No	ClinGen gnomAD
rs778274713 CA5397843	291	S>A		No	ClinGen ExAC gnomAD
rs372269055 CA5397844	291	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA375935260 rs1219714754 COSM1348485	295	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1451629420 CA375935268	296	L>P		No	ClinGen gnomAD
CA375935301 rs1200347780	299	I>V		No	ClinGen gnomAD
CA5397846 rs145588908	302	C>R		No	ClinGen ESP ExAC TOPMed
CA375935351 rs1239904191	302	C>W		No	ClinGen gnomAD
rs138018241 CA202327253	304	T>S		No	ClinGen ESP
CA5397848 rs770072476	310	R>T		No	ClinGen ExAC gnomAD
TCGA novel	312	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382796754 CA375936080 COSM919199	315	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA375936246 rs1441979070	324	V>A		No	ClinGen TOPMed
CA375936294 rs1367243449	327	K>R		No	ClinGen gnomAD
rs1450412964 CA375936370	331	E>D		No	ClinGen gnomAD
CA5397875 rs775801085	335	K>R		No	ClinGen ExAC gnomAD
CA5397876 rs775801085	335	K>T		No	ClinGen ExAC gnomAD
rs1246465657 CA375936427	336	V>I		No	ClinGen gnomAD
rs1258584207 CA375936506	342	F>S		No	ClinGen gnomAD
CA375936512 rs1327817103	343	E>Q		No	ClinGen gnomAD
rs772094602 CA5397898	346	G>S		No	ClinGen ExAC TOPMed gnomAD
CA375936567 rs1554836026	349	D>E		No	ClinGen Ensembl
rs770542588 CA5397901	352	A>T		No	ClinGen ExAC gnomAD
TCGA novel	368	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs76409649 CA202328700	372	L>F		No	ClinGen Ensembl
rs1588353632 CA375936762	376	Y>D		No	ClinGen Ensembl
TCGA novel	376	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375936798 rs1588353635	381	V>G		No	ClinGen Ensembl
rs200401715 CA202328714	386	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1015437090 CA202328715	388	N>S		No	ClinGen Ensembl
CA375936902 rs1396291010	393	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs966114911 CA202328717	394	V>F		No	ClinGen Ensembl
rs750879262 CA5397928	395	L>F		No	ClinGen ExAC gnomAD
rs1467325100 CA375936980	399	E>Q		No	ClinGen TOPMed
TCGA novel	401	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375937023 rs1411440263	402	V>S		No	ClinGen gnomAD

No associated diseases with Q96I25

4 regional properties for Q96I25

Type	Name	Position	InterPro Accession
domain	G-patch domain	233 - 279	IPR000467
domain	RNA recognition motif domain	328 - 383	IPR000504
domain	RNA recognition motif domain, eukaryote	306 - 385	IPR003954
domain	SPF45, RNA recognition motif	303 - 397	IPR034653

Functions

		Description
EC Number
Subcellular Localization	Nucleus
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.
spliceosomal complex	Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

3 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 cis splicing, via spliceosome	The joining together, after removal of an intervening sequence composed of one or more introns, of two segments of the same RNA molecule via spliceosomal catalysis to produce an mRNA composed only of exon sequences that all came from the same primary transcript.
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.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MSLYDDLGVE	TSDSKTEGWS	KNFKLLQSQL	QVKKAALTQA	KSQRTKQSTV	LAPVIDLKRG
70	80	90	100	110	120
GSSDDRQIVD	TPPHVAAGLK	DPVPSGFSAG	EVLIPLADEY	DPMFPNDYEK	VVKRQREERQ
130	140	150	160	170	180
RQRELERQKE	IEEREKRRKD	RHEASGFARR	PDPDSDEDED	YERERRKRSM	GGAAIAPPTS
190	200	210	220	230	240
LVEKDKELPR	DFPYEEDSRP	RSQSSKAAIP	PPVYEEQDRP	RSPTGPSNSF	LANMGGTVAH
250	260	270	280	290	300
KIMQKYGFRE	GQGLGKHEQG	LSTALSVEKT	SKRGGKIIVG	DATEKDASKK	SDSNPLTEIL
310	320	330	340	350	360
KCPTKVVLLR	NMVGAGEVDE	DLEVETKEEC	EKYGKVGKCV	IFEIPGAPDD	EAVRIFLEFE
370	380	390	400
RVESAIKAVV	DLNGRYFGGR	VVKACFYNLD	KFRVLDLAEQ	V