AiPD: Autoinhibited Protein Database

Q2TAY7

Gene name	SMU1
Protein name	WD40 repeat-containing protein SMU1
Names	Smu-1 suppressor of mec-8 and unc-52 protein homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55234
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

69-183 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

69-183 (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

7 structures for Q2TAY7

Entry ID	Method	Resolution	Chain	Position	Source
5O9Z	EM	450 A	L	1-513	PDB
6AHD	EM	380 A	Y	1-513	PDB
6Q8F	X-ray	190 A	A/B	2-513	PDB
6Q8I	X-ray	317 A	A/B/E/F/I/J/M/N	2-513	PDB
6Q8J	X-ray	180 A	A	2-196	PDB
8QO9	EM	529 A	v/w	1-513	PDB
AF-Q2TAY7-F1	Predicted				AlphaFoldDB

152 variants for Q2TAY7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA373186857 rs1405651905	8	S>L		No	ClinGen TOPMed gnomAD
rs755514676 CA5023525	9	D>H		No	ClinGen ExAC gnomAD
CA5023501 rs751139820	24	H>L		No	ClinGen ExAC gnomAD
rs751139820 CA373186555	24	H>R		No	ClinGen ExAC gnomAD
rs1340939120 CA373186557	24	H>Y		No	ClinGen TOPMed
rs1241310721 CA373186550	25	R>Q		No	ClinGen gnomAD
rs1564025861 CA373186542	26	A>V		No	ClinGen Ensembl
rs774944719 CA5023498	28	A>V		No	ClinGen ExAC gnomAD
COSM608725 rs764925690 CA5023497	36	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1037873605 CA192432977	42	D>E		No	ClinGen TOPMed gnomAD
rs1564025847 CA373186441	42	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5023495 rs537864362	42	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs770903254 CA5023494	44	I>V		No	ClinGen ExAC gnomAD
CA5023491 rs771989256	59	V>L		No	ClinGen ExAC gnomAD
rs1245450943 CA373186293	63	I>V		No	ClinGen gnomAD
rs755224688 CA5023488	69	P>S		No	ClinGen ExAC gnomAD
rs1342221466 CA373186231	72	T>A		No	ClinGen TOPMed
rs1446741656 CA373186229	72	T>N		No	ClinGen gnomAD
rs749722919 CA5023487	78	E>D		No	ClinGen ExAC TOPMed gnomAD
CA192431293 rs45509097	94	R>K		No	ClinGen Ensembl
CA192431279 rs866746026	102	P>S		No	ClinGen Ensembl
CA373186012 rs1344483229	103	M>V		No	ClinGen gnomAD
CA5023454 rs766003515	105	M>I		No	ClinGen ExAC gnomAD
rs760531089 CA5023453	108	Q>H		No	ClinGen ExAC gnomAD
rs1441222373 CA373185948	111	P>L		No	ClinGen TOPMed
CA373185888 rs1409892258	120	L>F		No	ClinGen gnomAD
rs767408086 CA5023451	120	L>H		No	ClinGen ExAC gnomAD
rs1170021217 CA373185876	122	A>S		No	ClinGen gnomAD
CA373185869 rs1243278069	123	R>T		No	ClinGen TOPMed
CA192431233 rs930415686	129	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	132	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1587712521 CA373185787	133	P>S		No	ClinGen Ensembl
CA5023439 rs747509692	134	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1417763292 CA373185778	134	D>V		No	ClinGen TOPMed
CA373185765 rs1481536413	136	S>N		No	ClinGen gnomAD
rs754542329 CA5023437	141	R>S		No	ClinGen ExAC gnomAD
rs371094119 CA192428961	143	A>T		No	ClinGen ESP
rs1291490169 CA373185705	145	I>V		No	ClinGen TOPMed
CA373185661 rs1460733632	151	G>V		No	ClinGen gnomAD
rs1205240197 CA373185654	152	E>D		No	ClinGen gnomAD
rs747621759 CA192428937	152	E>K		No	ClinGen Ensembl
CA5023434 rs755773572	159	S>F		No	ClinGen ExAC gnomAD
rs866865953 COSM3765450 CA192428915	160	R>C	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA192428907 rs79227130	160	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	163	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5023433 rs750210590	165	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1184469675 CA373185107	168	A>S		No	ClinGen gnomAD
CA373185099 rs1486652540	169	L>R		No	ClinGen gnomAD
rs780866174 CA5023409	173	Q>E		No	ClinGen ExAC gnomAD
CA192423759 rs796362881	173	Q>L		No	ClinGen Ensembl
rs796947857 CA192423754	175	Q>*		No	ClinGen Ensembl
TCGA novel	178	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373185009 rs1421604950	182	M>I		No	ClinGen TOPMed
rs201686974 CA192423753	182	M>V		No	ClinGen 1000Genomes
CA373185002 rs1290277193	183	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373184969 rs1295283908	188	R>Q		No	ClinGen gnomAD
rs1319081546 CA373184940	193	V>I		No	ClinGen Ensembl
CA373184859 rs1388530155	204	Q>E		No	ClinGen TOPMed
rs375123428 CA192423743	204	Q>L		No	ClinGen ESP
CA373184847 rs1364356726	206	S>G		No	ClinGen gnomAD
CA373184811 rs1363757338	210	K>N		No	ClinGen gnomAD
CA5023389 rs769292838	213	Q>R		No	ClinGen ExAC gnomAD
CA5023387 rs780962825	220	A>G		No	ClinGen ExAC gnomAD
CA5023386 rs763537701	221	R>Q		No	ClinGen ExAC gnomAD
CA5023382 rs752613555	240	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5023379 rs753832537	250	K>R		No	ClinGen ExAC gnomAD
rs1408425458 CA373184205	252	L>V		No	ClinGen TOPMed
TCGA novel	255	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764707269 CA5023352	258	D>A		No	ClinGen ExAC gnomAD
CA373184157 rs538564093	258	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5023350 rs776234785	261	M>V		No	ClinGen ExAC TOPMed gnomAD
CA373184125 rs1188575517	262	M>I		No	ClinGen gnomAD
rs765920904 CA5023349	263	M>I		No	ClinGen ExAC TOPMed
rs1355768965 CA373184105	265	D>H		No	ClinGen TOPMed
rs760415476 CA5023348	270	M>T		No	ClinGen ExAC gnomAD
rs200292288 CA5023347	276	T>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	277	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192421354 rs112341772	278	M>I		No	ClinGen Ensembl
CA5023346 rs376079944	279	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373183993 rs1291006854	280	A>V		No	ClinGen gnomAD
TCGA novel	283	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773968747 CA5023344	287	K>R		No	ClinGen ExAC gnomAD
TCGA novel	293	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373183559 rs1348402185	294	Q>L		No	ClinGen TOPMed
rs774201482 CA5023320	296	G>R		No	ClinGen ExAC gnomAD
CA5023317 rs775475727	305	A>G		No	ClinGen ExAC gnomAD
rs749100840 CA5023318	305	A>T		No	ClinGen ExAC gnomAD
rs912555089 CA192416467	307	S>G		No	ClinGen TOPMed gnomAD
rs1197401945 CA373183388	307	S>N		No	ClinGen gnomAD
rs74393879 CA192416465	308	K>T		No	ClinGen Ensembl
rs1247270973 CA373183317	313	L>I		No	ClinGen gnomAD
CA192416462 rs781195040	314	S>N		No	ClinGen ExAC TOPMed
rs781195040 CA5023314	314	S>T		No	ClinGen ExAC TOPMed
CA373183235 rs1359458959	319	S>N		No	ClinGen TOPMed
TCGA novel	324	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778211977 CA5023311	331	I>V		No	ClinGen ExAC gnomAD
CA373183053 rs1480805784	335	G>S		No	ClinGen TOPMed
rs1328928646 CA373183007	341	T>I		No	ClinGen TOPMed gnomAD
rs769740534 CA5023299	346	R>H		No	ClinGen ExAC TOPMed gnomAD
rs201033994 CA192416314	352	V>A		No	ClinGen 1000Genomes
rs1387703323 CA373182917	355	A>T		No	ClinGen TOPMed
CA373182910 rs1211758093	356	T>A		No	ClinGen TOPMed gnomAD
CA373182900 rs1170289933	357	F>C		No	ClinGen TOPMed
CA373182857 rs1221516090	363	Y>C		No	ClinGen gnomAD
CA373182719 rs1420656056	381	T>A		No	ClinGen TOPMed
rs759482316 CA5023280	382	E>D		No	ClinGen ExAC gnomAD
rs867659133 CA192415680	383	C>F		No	ClinGen Ensembl
rs1166655789 CA373182631	394	A>T		No	ClinGen gnomAD
TCGA novel	397	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA192415673 rs762103267	400	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs145996733 CA192415671	401	N>S		No	ClinGen ESP
CA192415669 rs934656069	402	S>G		No	ClinGen Ensembl
CA373182580 rs1324285924	402	S>N		No	ClinGen TOPMed
rs1191021152 CA373182562	405	L>I		No	ClinGen gnomAD
rs1306951886 CA373182532	409	N>I		No	ClinGen TOPMed
rs866247778 CA192415663	410	P>S		No	ClinGen gnomAD
CA5023273 rs779435806	415	V>L		No	ClinGen ExAC gnomAD
CA5023272 rs769203919	417	N>S		No	ClinGen ExAC gnomAD
CA373182452 rs1353831260	421	T>A		No	ClinGen TOPMed
rs1342512833 CA373182447	421	T>M		No	ClinGen gnomAD
TCGA novel	422	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs986295998 CA192415654	422	V>M		No	ClinGen TOPMed gnomAD
CA5023268 rs751049620	423	V>I		No	ClinGen ExAC gnomAD
rs538011443 CA5023267	425	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA373182405 rs1290001414	427	M>I		No	ClinGen TOPMed
rs1052691996 CA192414398	434	S>N		No	ClinGen Ensembl
CA373182332 rs1306922214	436	S>N		No	ClinGen gnomAD
TCGA novel	437	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	437	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373182304 rs1448787281	440	R>K		No	ClinGen gnomAD
CA192414394 rs935146382	442	G>D		No	ClinGen Ensembl
TCGA novel	443	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	444	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5023240 rs372926186	448	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373182239 rs1335755144	449	A>V		No	ClinGen gnomAD
rs750052117 CA192414384	450	L>F		No	ClinGen Ensembl
rs976675742 CA192414379	451	S>C		No	ClinGen Ensembl
rs1306717255 CA373182221	453	R>G		No	ClinGen TOPMed
rs1452382335 CA373182167	460	V>I		No	ClinGen gnomAD
CA192414367 rs897034442	466	L>F		No	ClinGen TOPMed
CA5023235 rs764437910	474	G>D		No	ClinGen ExAC gnomAD
CA373181795 rs1426722440	489	G>C		No	ClinGen TOPMed
rs1207865272 CA373181787	490	I>T		No	ClinGen gnomAD
CA373181790 rs1169652792	490	I>V		No	ClinGen TOPMed
rs753017552 CA5023216	491	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5023215 rs765371310	491	A>V		No	ClinGen ExAC TOPMed gnomAD
CA192414159 rs139150841	493	H>Q		No	ClinGen ESP
rs146185445 CA5023213	499	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5023214 rs759983891	499	I>T		No	ClinGen ExAC gnomAD
CA373181717 rs1229686838	501	T>S		No	ClinGen TOPMed gnomAD
CA373181674 rs1350827322	507	L>V		No	ClinGen gnomAD
rs761103565 CA5023211	508	L>V		No	ClinGen ExAC gnomAD

No associated diseases with Q2TAY7

11 regional properties for Q2TAY7

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	202 - 251	IPR001680-1
repeat	WD40 repeat	253 - 426	IPR001680-2
repeat	WD40 repeat	428 - 470	IPR001680-3
repeat	WD40 repeat	473 - 513	IPR001680-4
domain	LIS1 homology motif	6 - 38	IPR006594
domain	CTLH, C-terminal LisH motif	40 - 92	IPR006595
conserved_site	WD40 repeat, conserved site	229 - 243	IPR019775-1
conserved_site	WD40 repeat, conserved site	364 - 378	IPR019775-2
repeat	G-protein beta WD-40 repeat	229 - 243	IPR020472-1
repeat	G-protein beta WD-40 repeat	279 - 293	IPR020472-2
repeat	G-protein beta WD-40 repeat	364 - 378	IPR020472-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus Nucleus speckle	Colocalizes with SRSF1 in nuclear speckles
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of a preassembled U5-containing tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the associated snRNPs.
U2-type precatalytic spliceosome	A spliceosomal complex that is formed by the recruitment of the preassembled U4/U6.U5 tri-snRNP to the prespliceosome. Although all 5 snRNPs are present, the precatalytic spliceosome is catalytically inactive. The precatalytic spliceosome includes many proteins in addition to those found in the U1, U2 and U4/U6.U5 snRNPs.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
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.
regulation of alternative mRNA splicing, via spliceosome	Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2TBS9	SMU1	WD40 repeat-containing protein SMU1	Bos taurus (Bovine)	PR
Q5ZME8	SMU1	WD40 repeat-containing protein SMU1	Gallus gallus (Chicken)	PR
Q3UKJ7	Smu1	WD40 repeat-containing protein SMU1	Mus musculus (Mouse)	PR
Q99M63	Smu1	WD40 repeat-containing protein SMU1	Rattus norvegicus (Rat)	PR
Q8W117	SMU1	Suppressor of mec-8 and unc-52 protein homolog 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7ZVA0	smu1	WD40 repeat-containing protein SMU1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSIEIESSDV	IRLIMQYLKE	NSLHRALATL	QEETTVSLNT	VDSIESFVAD	INSGHWDTVL
70	80	90	100	110	120
QAIQSLKLPD	KTLIDLYEQV	VLELIELREL	GAARSLLRQT	DPMIMLKQTQ	PERYIHLENL
130	140	150	160	170	180
LARSYFDPRE	AYPDGSSKEK	RRAAIAQALA	GEVSVVPPSR	LMALLGQALK	WQQHQGLLPP
190	200	210	220	230	240
GMTIDLFRGK	AAVKDVEEEK	FPTQLSRHIK	FGQKSHVECA	RFSPDGQYLV	TGSVDGFIEV
250	260	270	280	290	300
WNFTTGKIRK	DLKYQAQDNF	MMMDDAVLCM	CFSRDTEMLA	TGAQDGKIKV	WKIQSGQCLR
310	320	330	340	350	360
RFERAHSKGV	TCLSFSKDSS	QILSASFDQT	IRIHGLKSGK	TLKEFRGHSS	FVNEATFTQD
370	380	390	400	410	420
GHYIISASSD	GTVKIWNMKT	TECSNTFKSL	GSTAGTDITV	NSVILLPKNP	EHFVVCNRSN
430	440	450	460	470	480
TVVIMNMQGQ	IVRSFSSGKR	EGGDFVCCAL	SPRGEWIYCV	GEDFVLYCFS	TVTGKLERTL
490	500	510
TVHEKDVIGI	AHHPHQNLIA	TYSEDGLLKL	WKP