AiPD: Autoinhibited Protein Database

Q9UHB9

Gene name	SRP68
Protein name	Signal recognition particle subunit SRP68
Names	SRP68, Signal recognition particle 68 kDa protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6730
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

9 structures for Q9UHB9

Entry ID	Method	Resolution	Chain	Position	Source
4P3E	X-ray	350 A	C	47-254	PDB
4P3F	X-ray	170 A	A/B	47-254	PDB
5M72	X-ray	160 A	B	546-614	PDB
5M73	X-ray	340 A	C/G	60-254	PDB
5WRV	X-ray	170 A	A	509-614	PDB
7NFX	EM	320 A	u	1-627	PDB
7QWQ	EM	283 A	v	1-627	PDB
8QVW	EM	300 A	A	52-627	PDB
AF-Q9UHB9-F1	Predicted				AlphaFoldDB

418 variants for Q9UHB9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA401090268 rs1228286844	2	A>V		No	ClinGen TOPMed
CA401090235 rs1387746109	3	A>G		No	ClinGen TOPMed gnomAD
rs982853222 CA294124244	4	E>D		No	ClinGen TOPMed gnomAD
CA401090224 rs1424012847	5	K>E		No	ClinGen gnomAD
rs745681553 CA294124227	6	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8780150 rs771810762	6	Q>R		No	ClinGen ExAC gnomAD
CA8780147 rs770923950	7	V>A		No	ClinGen ExAC gnomAD
rs778761206 CA8780148	7	V>I		No	ClinGen ExAC gnomAD
rs755696245 CA8780144	8	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	8	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777395419 CA8780145	8	P>S		No	ClinGen ExAC gnomAD
CA8780141 rs751979771	10	G>C		No	ClinGen ExAC TOPMed gnomAD
rs751979771 CA401090110	10	G>R		No	ClinGen ExAC TOPMed gnomAD
rs751979771 CA8780140	10	G>S		No	ClinGen ExAC TOPMed gnomAD
rs888245354 CA294124188	10	G>V		No	ClinGen TOPMed gnomAD
CA8780138 rs763571966	11	G>S		No	ClinGen ExAC
CA294124184 rs200964219	12	G>S		No	ClinGen Ensembl
CA401090032 rs1306845950	13	G>D		No	ClinGen gnomAD
CA8780134 rs765398337	14	G>S		No	ClinGen ExAC gnomAD
rs776861075 CA8780132	15	G>S		No	ClinGen ExAC TOPMed gnomAD
CA294124132 rs1041428323	16	S>C		No	ClinGen TOPMed
CA401089974 rs1041428323	16	S>G		No	ClinGen TOPMed
rs572529275 CA8780122	17	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1250333138 CA401089853	18	G>D		No	ClinGen gnomAD
CA8780120 rs770836109	18	G>S		No	ClinGen ExAC
CA401089841 rs1174920733	19	G>C		No	ClinGen TOPMed
CA401089658 rs377012082	22	S>C		No	ClinGen ESP TOPMed
TCGA novel	22	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8780108 rs377012082	22	S>R		No	ClinGen ESP TOPMed
rs1194959914 CA401089553	24	G>D		No	ClinGen TOPMed
rs777603456 CA8780104	24	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401089557 rs777603456	24	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747625446 CA8780101	25	G>D		No	ClinGen ExAC gnomAD
CA8780102 rs769298926	25	G>S		No	ClinGen ExAC
CA401089488 rs754741659	26	G>A		No	ClinGen ExAC TOPMed gnomAD
rs780927130 CA8780098	26	G>C		No	ClinGen ExAC TOPMed gnomAD
rs780927130 CA401089491	26	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8780097 rs754741659	26	G>V		No	ClinGen ExAC TOPMed gnomAD
rs751957574 CA8780093	27	S>G		No	ClinGen ExAC TOPMed
rs780614140 CA8780090	27	S>I		No	ClinGen ExAC gnomAD
CA8780089 rs758799435	27	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1281532095 CA401089415	28	G>D		No	ClinGen TOPMed
CA401089353 rs1457075717	30	G>E		No	ClinGen gnomAD
CA8780083 rs757301105	31	R>C		No	ClinGen ExAC gnomAD
CA401089315 rs1459207149	31	R>H		No	ClinGen gnomAD
CA8780080 rs760939812	33	A>G		No	ClinGen ExAC
rs766126111 CA8780078	34	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401089170 rs773145063	35	G>E		No	ClinGen ExAC TOPMed gnomAD
CA401089202 rs1189598998	35	G>R		No	ClinGen TOPMed gnomAD
CA8780076 rs773145063	35	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	36	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8780075 rs769624821	36	E>G		No	ClinGen ExAC gnomAD
rs747691330 COSM437424 CA8780074	40	E>G	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	41	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768400729 CA401088914	42	E>*		No	ClinGen ExAC gnomAD
CA8780072 rs768400729	42	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8780071 rs746698013	42	E>V		No	ClinGen ExAC gnomAD
CA8780070 rs373040048	43	R>G		No	ClinGen ESP ExAC gnomAD
CA8780069 rs758737275	43	R>H		No	ClinGen ExAC gnomAD
CA294123946 rs868848227	46	A>V		No	ClinGen Ensembl
CA401088735 rs1322070523	47	G>E		No	ClinGen gnomAD
CA8780068 rs746229075	48	S>P		No	ClinGen ExAC gnomAD
rs776550722 CA8780066	51	N>H		No	ClinGen ExAC TOPMed gnomAD
CA8780065 rs753894919	53	E>G		No	ClinGen ExAC gnomAD
CA401088598 rs753894919	53	E>V		No	ClinGen ExAC gnomAD
rs764202545 CA8780064	54	F>S		No	ClinGen ExAC gnomAD
CA294123894 rs918205064	55	G>R		No	ClinGen TOPMed gnomAD
rs1470287869 CA401088540	57	S>R		No	ClinGen TOPMed
rs756221342 CA8780063	57	S>T		No	ClinGen ExAC gnomAD
TCGA novel	61	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248724090 CA401088446	62	I>L		No	ClinGen gnomAD
CA401087702 rs1163984978	65	I>V		No	ClinGen TOPMed gnomAD
rs759152561 CA8780033	66	I>V		No	ClinGen ExAC gnomAD
CA401087563 rs1366450661	70	Q>H		No	ClinGen gnomAD
CA294122376 rs913735678	73	H>R		No	ClinGen TOPMed
rs1330381530 CA401087504	73	H>Y		No	ClinGen TOPMed
rs1598272653 CA401087480	74	G>C		No	ClinGen Ensembl
CA8780031 rs771151407	76	R>Q		No	ClinGen ExAC gnomAD
CA8780032 rs774084915	76	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	79	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs939293655 CA294122363	80	F>C		No	ClinGen TOPMed
rs1202395010 CA401087275	82	R>G		No	ClinGen TOPMed gnomAD
CA401087204 rs1482618453	83	Y>*		No	ClinGen TOPMed
CA401086372 rs773628297	85	G>D		No	ClinGen ExAC TOPMed gnomAD
rs763306027 CA8780011	85	G>S		No	ClinGen ExAC
CA8780010 rs773628297	85	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8780007 rs777223002	89	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777223002 CA401086267	89	R>G		No	ClinGen ExAC TOPMed gnomAD
CA401086254 rs1222515803	89	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs768565696 CA8780006	92	R>K		No	ClinGen ExAC gnomAD
CA8780005 rs780073296	93	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8780004 rs780073296	93	R>G		No	ClinGen ExAC TOPMed gnomAD
rs149867603 CA8780003	93	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401086126 rs1390520157	94	L>I		No	ClinGen gnomAD
CA8780001 rs777753629	95	R>*		No	ClinGen ExAC gnomAD
rs756006076 COSM1227566 CA8780000	95	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8779998 rs767503692	97	T>I		No	ClinGen ExAC
CA8779999 rs376285977	97	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs546469786 CA8779997	98	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1393959836 CA401086006	99	N>S		No	ClinGen gnomAD
CA294117150 rs77806267	100	F>L		No	ClinGen Ensembl
TCGA novel	101	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401085978 rs1188756816	101	K>R		No	ClinGen gnomAD
CA294117141 rs199566111	103	G>S		No	ClinGen Ensembl
CA401085882 rs1333474694	107	K>T		No	ClinGen gnomAD
rs1446926784 CA401085841	109	T>A		No	ClinGen TOPMed gnomAD
CA8779996 rs751151274	109	T>I		No	ClinGen ExAC TOPMed gnomAD
CA294117134 rs772868823	113	V>M		No	ClinGen Ensembl
CA8779995 rs766005501	114	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8779994 rs762645949	117	L>P		No	ClinGen ExAC gnomAD
CA8779993 rs773532394	118	L>V		No	ClinGen ExAC TOPMed gnomAD
rs151318558 CA8779991	120	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294117080 rs939803958	121	N>D		No	ClinGen gnomAD
rs1414921539 CA401083850	123	Y>F		No	ClinGen gnomAD
rs1369731753 CA401083796	124	L>V		No	ClinGen Ensembl
CA401083701 rs1190582131	127	V>F		No	ClinGen gnomAD
TCGA novel	129	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185994319 CA401083571	130	D>V		No	ClinGen TOPMed
rs759703530 CA8779968	132	E>D		No	ClinGen ExAC gnomAD
rs769689934 CA294114623	133	R>G		No	ClinGen gnomAD
rs774648889 CA8779967	134	A>P		No	ClinGen ExAC gnomAD
CA294114615 rs774648889	134	A>S		No	ClinGen ExAC gnomAD
CA401083309 rs1204046009	138	A>S		No	ClinGen TOPMed gnomAD
CA401083314 rs1204046009	138	A>T		No	ClinGen TOPMed gnomAD
rs1395046669 CA401083298	139	M>V		No	ClinGen TOPMed
rs1322595991 CA401083074	144	E>G		No	ClinGen gnomAD
rs370884129 CA8779965	147	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs140122208 CA294114585	148	E>A		No	ClinGen ESP TOPMed gnomAD
rs781093453 CA8779964	149	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8779963 rs768450844	150	R>*		No	ClinGen ExAC gnomAD
COSM173158 CA8779962 rs746905444	150	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778532040 CA8779958 COSM984592	152	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8779959 rs749936481	152	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1351321932 CA401082652	154	H>Y		No	ClinGen gnomAD
CA294114544 rs144290534	156	L>S		No	ClinGen ESP
CA8779957 rs202164432	158	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs764559057 CA8779955	160	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401082477 rs1160494460	160	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8779953 rs753200088	163	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401082349 rs1176738782	165	H>P		No	ClinGen gnomAD
TCGA novel	167	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8779950 rs144739272	171	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs771040745 CA8779949	171	R>H		No	ClinGen ExAC TOPMed gnomAD
rs144739272 CA8779951	171	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401082038 rs1268549017	174	E>D		No	ClinGen gnomAD
rs763278696 CA8779948	175	S>N		No	ClinGen ExAC gnomAD
rs763278696 CA401082017	175	S>T		No	ClinGen ExAC gnomAD
rs773341186 CA8779947	177	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200003470 CA8779946	177	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA294114452 rs1055404586	178	V>M		No	ClinGen gnomAD
rs941884846 CA294114443	183	K>R		No	ClinGen gnomAD
TCGA novel	185	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297382144 CA401081683	186	A>T		No	ClinGen gnomAD
rs1390272750 CA401081652	187	Q>R		No	ClinGen TOPMed
CA8779925 rs771974589	190	T>I		No	ClinGen ExAC gnomAD
CA401080364 rs1171890777	191	A>T		No	ClinGen gnomAD
rs1424245362 CA401080335	192	Y>H		No	ClinGen TOPMed
rs1477743526 CA401080238	196	M>L		No	ClinGen TOPMed
CA8779922 rs770417994	196	M>T		No	ClinGen ExAC gnomAD
CA8779921 rs748755372	198	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8779920 rs777477411	198	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1427551873 CA401080098	200	E>G		No	ClinGen TOPMed
rs1486635307 CA401080051	201	H>Q		No	ClinGen gnomAD
rs904537990 CA294111924	201	H>R		No	ClinGen TOPMed gnomAD
CA401080005 rs1297786826	203	E>G		No	ClinGen TOPMed
CA401079878 rs1277544984	207	A>V		No	ClinGen gnomAD
CA401079868 rs1342426334	208	I>V		No	ClinGen gnomAD
rs1271506890 CA401079755	210	A>V		No	ClinGen TOPMed gnomAD
rs748504706 CA8779918	211	F>S		No	ClinGen ExAC gnomAD
CA8779917 rs781721284	213	K>N		No	ClinGen ExAC gnomAD
CA401079653 rs1567934094	215	K>E		No	ClinGen Ensembl
rs757110630 CA14488431	215	K>R		No	ClinGen TOPMed
rs1336386658 CA401079495	218	Y>C		No	ClinGen gnomAD
CA8779901 rs377303615	219	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375954134 CA294111674	224	A>G		No	ClinGen ESP
CA8779900 rs781017054	226	T>I		No	ClinGen ExAC gnomAD
rs1435528649 CA401079082	227	E>G		No	ClinGen TOPMed gnomAD
rs1459130324 CA401078847	233	Y>C		No	ClinGen TOPMed
CA8779898 rs141509827	236	R>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1415410418 CA401078693	236	R>H		No	ClinGen gnomAD
rs1196663586 CA401078681	237	V>M		No	ClinGen TOPMed
rs1567933906 CA401078616	238	E>V		No	ClinGen Ensembl
TCGA novel	241	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164068261 CA401078430	243	N>D		No	ClinGen gnomAD
rs780602963 CA8779897	245	R>C		No	ClinGen ExAC gnomAD
CA401078380 rs780602963	245	R>G		No	ClinGen ExAC gnomAD
TCGA novel	245	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	248	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8779896 rs758883117	248	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401078252 rs1179108206	248	A>V		No	ClinGen gnomAD
CA294111657 rs993307263	249	Y>F		No	ClinGen TOPMed
CA401077187 rs1349984560	252	G>E		No	ClinGen gnomAD
rs372152760 CA8779877	254	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs563879201 CA8779876	258	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8779874 rs757269204	260	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401076996 rs1397045387	261	M>I		No	ClinGen TOPMed
rs1316079943 CA401077015	261	M>T		No	ClinGen gnomAD
CA8779872 rs777961118	262	Q>K		No	ClinGen ExAC gnomAD
CA8779870 rs575036031	268	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8779869 rs150793464	270	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201735400 CA8779867	272	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8779866 rs765266237	272	G>D		No	ClinGen ExAC gnomAD
TCGA novel	272	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401076718 rs1402990988	273	L>V		No	ClinGen TOPMed
CA401076685 rs138822586	274	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8779864 rs768329856	275	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1213180559 CA401076679	275	A>T		No	ClinGen gnomAD
rs768329856 CA8779863	275	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8779859 rs746256799	279	E>G		No	ClinGen ExAC gnomAD
rs1286981207 CA401076425	280	A>G		No	ClinGen TOPMed gnomAD
CA401076416 rs1213843818	281	L>F		No	ClinGen gnomAD
CA401076384 rs1273037478	284	Q>R		No	ClinGen TOPMed
CA8779844 rs774947036	286	R>*		No	ClinGen ExAC TOPMed gnomAD
rs767203079 CA401076360	286	R>L		No	ClinGen ExAC gnomAD
CA8779843 rs767203079	286	R>Q		No	ClinGen ExAC gnomAD
CA401076336 rs1567932207	288	K>R		No	ClinGen Ensembl
CA8779842 rs759881233	291	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771398172 CA8779840	293	M>V		No	ClinGen ExAC gnomAD
rs749757006 CA8779839	296	V>M		No	ClinGen ExAC gnomAD
CA8779838 COSM1386128 rs200168660	302	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1167903961 CA401076075	306	K>N		No	ClinGen TOPMed
rs142178082 CA8779834	307	I>N		No	ClinGen ESP ExAC gnomAD
rs142178082 CA8779835	307	I>T		No	ClinGen ESP ExAC gnomAD
rs745633872 CA8779833	308	D>A		No	ClinGen ExAC gnomAD
CA8779832 rs778889146	310	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8779831 rs757149057	311	R>C		No	ClinGen ExAC gnomAD
rs753777388 CA8779830	311	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	315	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401075866 rs1231345263	317	L>V		No	ClinGen gnomAD
rs143508929 CA8779826	321	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370539839 CA401075647	324	I>V		No	ClinGen gnomAD
rs1345508248 CA401075623	325	V>F		No	ClinGen gnomAD
CA401141695 rs1261166667	327	A>P		No	ClinGen gnomAD
CA8779814 CA294154964 rs148814451	329	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777566753 CA8779812	330	E>A		No	ClinGen ExAC gnomAD
CA401141675 rs1307934481	330	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	331	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199545005 CA294154947	332	T>A		No	ClinGen 1000Genomes
rs752117551 CA8779810 COSM1386127	335	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1227565 CA8779809 rs780715550	335	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs752117551 CA401141638	335	R>S		No	ClinGen ExAC TOPMed gnomAD
CA401141621 COSM562430 rs1407704953	338	E>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA401141603 rs1455836866	340	M>I		No	ClinGen gnomAD
CA8779808 rs754507116	340	M>V		No	ClinGen ExAC gnomAD
rs1343475289 CA401141599	341	L>V		No	ClinGen gnomAD
rs1567929228 CA401141575	344	C>Y		No	ClinGen Ensembl
rs766028128 CA8779806	345	R>W		No	ClinGen ExAC
rs750854248 CA8779804	347	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401141552 rs1287782451	348	I>V		No	ClinGen TOPMed
rs1432320620 CA401141536	350	V>M		No	ClinGen gnomAD
rs762419835 CA8779802	352	R>Q		No	ClinGen ExAC gnomAD
CA8779803 rs765636266	352	R>W		No	ClinGen ExAC gnomAD
CA8779801 rs777031913	353	E>K		No	ClinGen ExAC gnomAD
CA401141510 rs145478645 CA8779799	354	E>D		No	ClinGen ESP ExAC gnomAD
rs1323770653 CA401141505	355	L>P		No	ClinGen TOPMed
CA401141417 rs1230165173	365	I>T		No	ClinGen TOPMed gnomAD
CA401141406 rs1445132721	367	E>A		No	ClinGen TOPMed
CA401141402 rs775769675	367	E>D		No	ClinGen ExAC TOPMed gnomAD
rs772393796 CA8779780	368	G>A		No	ClinGen ExAC TOPMed gnomAD
rs866200871 CA294152870	373	V>L		No	ClinGen Ensembl
rs1415957990 CA401141362	374	S>P		No	ClinGen gnomAD
CA401141319 rs1332315946	380	H>D		No	ClinGen gnomAD
CA401141317 rs1395659288	380	H>R		No	ClinGen gnomAD
CA401141150 rs1331083026	384	T>I		No	ClinGen TOPMed gnomAD
rs779576471 CA8779769	390	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401141094 rs757875266	390	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8779768 rs757875266	390	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1484205299 CA401141081	392	I>F		No	ClinGen TOPMed
rs995509999 CA294151753	392	I>T		No	ClinGen TOPMed gnomAD
rs778442479 CA8779766	394	R>C		No	ClinGen ExAC gnomAD
rs201759768 CA8779765	394	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1173180073 CA401141017	398	M>T		No	ClinGen TOPMed
CA401141019 rs1179171543	398	M>V		No	ClinGen gnomAD
rs1428738626 CA401141005	399	A>D		No	ClinGen gnomAD
CA401141009 rs1567927232	399	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8779763 rs764685294	400	K>E		No	ClinGen ExAC gnomAD
CA401141001 rs764685294	400	K>Q		No	ClinGen ExAC gnomAD
CA401140986 rs1237930618	401	G>D		No	ClinGen gnomAD
TCGA novel	402	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294151745 rs1058617	403	Q>H		No	ClinGen Ensembl
CA8779762 rs532891814	403	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8779761 rs753288281	405	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1351442694 CA401140935	407	L>P		No	ClinGen gnomAD
rs1464871698 CA401140926	408	Q>L		No	ClinGen gnomAD
CA401140920 rs1298062276	409	Q>*		No	ClinGen TOPMed
CA8779759 rs759551219	410	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs766579454 CA8779756	415	S>N		No	ClinGen ExAC gnomAD
CA8779754 rs143880770	417	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377369805 CA8779753	417	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8779755 rs143880770	417	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294151694 rs56276889	418	S>P		No	ClinGen gnomAD
CA401140815 rs1567927162	419	P>H		No	ClinGen Ensembl
CA8779752 rs746905246	419	P>T		No	ClinGen ExAC gnomAD
rs745371890 CA8779749	420	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200440391 COSM247599 CA8779750	420	R>W	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA401140766 rs1313661999	425	I>F		No	ClinGen TOPMed
rs778621143 CA8779748	426	R>Q		No	ClinGen ExAC gnomAD
COSM1386123 CA401140735 rs1211586857	428	Y>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA401140715 rs1479184154	431	I>V		No	ClinGen TOPMed gnomAD
CA401140649 rs1212468380	438	L>F		No	ClinGen gnomAD
rs758492125 CA8779721	440	Q>H		No	ClinGen ExAC gnomAD
CA8779720 rs750584215	442	P>S		No	ClinGen ExAC gnomAD
CA401140611 rs1341229876	443	G>C		No	ClinGen TOPMed gnomAD
CA401140614 rs1341229876	443	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	444	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146630780 CA8779719	445	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1598258741 CA401140585	446	E>K		No	ClinGen Ensembl
rs61742607 CA294151078	447	D>A		No	ClinGen Ensembl
rs1195293080 CA401140559	448	K>Q		No	ClinGen TOPMed
rs752545548 CA8779717	448	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8779716 rs767466878	449	A>T		No	ClinGen ExAC gnomAD
CA401140521 rs144469138	451	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA8779715 rs575649482	454	I>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8779714 rs575649482	454	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1426259009 CA401140403	464	Y>H		No	ClinGen gnomAD
CA8779684 rs745924652	468	F>S		No	ClinGen ExAC gnomAD
rs1284387574 CA401139953	471	Q>R		No	ClinGen TOPMed gnomAD
CA401139944 rs1233384417	472	S>T		No	ClinGen TOPMed
CA401139927 rs1278300460	473	Y>C		No	ClinGen TOPMed
CA401139912 rs1374270682	474	V>E		No	ClinGen gnomAD
rs79782892 CA8779682	474	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8779681 rs749412951	477	K>R		No	ClinGen ExAC gnomAD
rs1295762372 CA401139826	480	S>G		No	ClinGen gnomAD
rs778060675 CA8779680	480	S>N		No	ClinGen ExAC gnomAD
rs751426983 CA8779679	480	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1374813561 CA401139809	481	E>K		No	ClinGen TOPMed gnomAD
rs199927539 CA8779676	486	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs764787527 CA8779674	487	D>E		No	ClinGen ExAC gnomAD
CA401139708 rs1269234033	488	R>T		No	ClinGen TOPMed gnomAD
CA294149911 rs866713891	491	K>Q		No	ClinGen Ensembl
CA401139668 rs1436010342	492	Y>C		No	ClinGen TOPMed
CA401139646 rs1260788909	494	N>I		No	ClinGen gnomAD
TCGA novel	494	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401139631 rs1334454423	496	V>I		No	ClinGen TOPMed
rs115675693 CA8779671	497	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294149895 rs759300590	500	A>G		No	ClinGen Ensembl
rs150844153 CA8779669	502	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234612735 CA401139525	506	S>T		No	ClinGen gnomAD
rs1338477330 CA401139409	512	D>V		No	ClinGen gnomAD
CA294147960 rs968446364	513	V>A		No	ClinGen Ensembl
rs1285895509 CA401139404	513	V>M		No	ClinGen gnomAD
CA401139394 rs1396810490	514	Q>L		No	ClinGen gnomAD
rs1301321075 CA401139381	516	L>F		No	ClinGen gnomAD
CA401139374 rs1598256059	517	I>T		No	ClinGen Ensembl
CA294147958 rs1021716893	517	I>V		No	ClinGen Ensembl
rs760417069 CA8779652	520	V>A		No	ClinGen ExAC gnomAD
rs775156164 CA401139352	521	R>G		No	ClinGen ExAC gnomAD
CA8779650 rs767821341	521	R>L		No	ClinGen ExAC gnomAD
rs767821341 COSM216406 CA294147942	521	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775156164 COSM1386121 CA8779651	521	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA401139345 COSM1303367 rs1314294204	522	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8779648 rs142359874	524	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8779642 rs781574834	530	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8779643 rs781574834	530	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	531	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401139285 rs1455798090	532	I>V		No	ClinGen gnomAD
rs267605058 CA294147861	533	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA401139259 rs1285789612	534	D>V		No	ClinGen TOPMed
rs577371998 CA8779617	535	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8779616 rs755645051	536	N>D		No	ClinGen ExAC TOPMed gnomAD
rs780799771 CA8779614	537	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8779612 rs75353721	538	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1387920439 CA401139227	539	H>R		No	ClinGen gnomAD
CA294147430 rs200920342 COSM3937572	539	H>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	542	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162187356 CA401139208	542	E>Q		No	ClinGen TOPMed gnomAD
CA294147406 rs112912450	546	S>P		No	ClinGen Ensembl
rs1438170130 CA401139153	550	D>V		No	ClinGen gnomAD
CA8779606 rs761975458	551	N>S		No	ClinGen ExAC TOPMed gnomAD
rs762787380 CA8779583	555	V>G		No	ClinGen ExAC gnomAD
CA8779584 rs767689952	555	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769606132 CA8779581	557	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8779582 rs140566396	557	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	558	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8779579 rs776560523	563	L>V		No	ClinGen ExAC TOPMed gnomAD
CA401139050 rs1598255354	564	D>A		No	ClinGen Ensembl
CA8779578 rs376006756	565	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376006756 CA8779577	565	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8779576 rs779747555	569	T>I		No	ClinGen ExAC gnomAD
CA401139024 rs1598255340	569	T>P		No	ClinGen Ensembl
CA294147102 rs997501607	572	A>T		No	ClinGen Ensembl
rs1180254232 CA401138976	576	H>Y		No	ClinGen TOPMed
rs1359311603 CA401138962	578	P>A		No	ClinGen gnomAD
CA401138955 rs758039068	579	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8779575 rs758039068	579	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8779574 rs746215653	580	G>D		No	ClinGen ExAC gnomAD
CA294147082 rs964640826	582	Q>H		No	ClinGen TOPMed gnomAD
CA8779573 rs368302170	583	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401138919 rs1478464430	585	P>T		No	ClinGen TOPMed gnomAD
rs1425851936 CA401138907	586	C>Y		No	ClinGen gnomAD
CA401138874 rs1367730040	589	L>S		No	ClinGen TOPMed gnomAD
CA8779572 rs375515786 COSM285358	590	F>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	592	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	594	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401138825 rs1475125881	594	A>T		No	ClinGen gnomAD
CA8779571 rs199952983	595	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212537967 CA401138804	596	N>S		No	ClinGen gnomAD
rs368075300 CA294147061	597	H>P		No	ClinGen ESP
CA401138788 rs1304815390	597	H>Q		No	ClinGen TOPMed
CA401138793 rs368075300	597	H>R		No	ClinGen ESP
rs1440440687 CA401138787	598	V>M		No	ClinGen gnomAD
CA8779570 rs532879908	601	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1598255234 CA401138746	602	P>R		No	ClinGen Ensembl
CA8779569 rs756248465	602	P>S		No	ClinGen ExAC gnomAD
CA294147047 rs184600542	603	L>F		No	ClinGen 1000Genomes
CA401138726 rs1337425333	604	E>D		No	ClinGen TOPMed
rs1320001350 CA401138722	605	D>N		No	ClinGen TOPMed gnomAD
CA8779568 rs752769300	606	K>E		No	ClinGen ExAC gnomAD
rs1011402533 CA294147037	606	K>N		No	ClinGen Ensembl
rs1017979136 CA294147038	606	K>R		No	ClinGen Ensembl
CA294147035 rs544057031	609	Q>K		No	ClinGen 1000Genomes gnomAD
CA8779567 rs767746849	610	K>E		No	ClinGen ExAC gnomAD
CA8779566 rs759635517	611	T>S		No	ClinGen ExAC TOPMed gnomAD
rs751826261 CA8779565	616	T>S		No	ClinGen ExAC TOPMed gnomAD
rs764952505 CA8779564	617	G>R		No	ClinGen ExAC TOPMed gnomAD
rs528838856 CA294147022	617	G>V		No	ClinGen Ensembl
rs1030439731 CA294147021	619	I>V		No	ClinGen TOPMed
rs763861096 CA294147020	623	F>S		No	ClinGen Ensembl

No associated diseases with Q9UHB9

1 regional properties for Q9UHB9

Type	Name	Position	InterPro Accession
domain	Signal recognition particle subunit SRP68, RNA-binding domain	61 - 249	IPR034652

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus, nucleolus Endoplasmic reticulum
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
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.
ribosome	An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.
signal recognition particle	A complex of protein and RNA which facilitates translocation of proteins across membranes.
signal recognition particle, endoplasmic reticulum targeting	A ribonucleoprotein particle of 325 kDa composed of a 7S (300 nucleotide) RNA molecule and a complex of six different polypeptides. This binds both to the N-terminal signal peptide for proteins destined for the endoplasmic reticulum as they emerge from the large ribosomal subunit and also to the ribosome. This binding arrests further translation thereby preventing the proteins from being released into the cytosol. The SRP-ribosome complex then diffuses to the endoplasmic reticulum where it is bound to the signal recognition particle receptor, which allows resumption of protein synthesis and facilitates the passage of the growing polypeptide chain through the translocon. Through a process involving GTP hydrolysis, the SRP-SRP receptor complex dissociates and SRP returns to the cytosol. Of the six polypeptides of SRP the 54 kDa subunit (SRP54) is the central player. It contains an N-terminal GTPase domain and a C-terminal domain that binds directly to the signal peptide and the SRP RNA. Examples of this component are found in Mus musculus, Saccharomyces cerevisiae and Arabidopsis thaliana.

5 GO annotations of molecular function

Name	Definition
7S RNA binding	Binding to a 7S RNA, the RNA component of the signal recognition particle (SRP).
endoplasmic reticulum signal peptide binding	Binding to an endoplasmic reticulum signal peptide, a specific peptide sequence that acts as a signal to localize the protein within the endoplasmic reticulum.
protein domain specific binding	Binding to a specific domain of a protein.
RNA binding	Binding to an RNA molecule or a portion thereof.
signal recognition particle binding	Binding to a signal recognition particle.

2 GO annotations of biological process

Name	Definition
response to xenobiotic stimulus	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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
SRP-dependent cotranslational protein targeting to membrane	The targeting of proteins to a membrane that occurs during translation and is dependent upon two key components, the signal-recognition particle (SRP) and the SRP receptor. SRP is a cytosolic particle that transiently binds to the endoplasmic reticulum (ER) signal sequence in a nascent protein, to the large ribosomal unit, and to the SRP receptor in the ER membrane.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAAEKQVPGG	GGGGGSGGGG	GSGGGGSGGG	RGAGGEENKE	NERPSAGSKA	NKEFGDSLSL
70	80	90	100	110	120
EILQIIKESQ	QQHGLRHGDF	QRYRGYCSRR	QRRLRKTLNF	KMGNRHKFTG	KKVTEELLTD
130	140	150	160	170	180
NRYLLLVLMD	AERAWSYAMQ	LKQEANTEPR	KRFHLLSRLR	KAVKHAEELE	RLCESNRVDA
190	200	210	220	230	240
KTKLEAQAYT	AYLSGMLRFE	HQEWKAAIEA	FNKCKTIYEK	LASAFTEEQA	VLYNQRVEEI
250	260	270	280	290	300
SPNIRYCAYN	IGDQSAINEL	MQMRLRSGGT	EGLLAEKLEA	LITQTRAKQA	ATMSEVEWRG
310	320	330	340	350	360
RTVPVKIDKV	RIFLLGLADN	EAAIVQAESE	ETKERLFESM	LSECRDAIQV	VREELKPDQK
370	380	390	400	410	420
QRDYILEGEP	GKVSNLQYLH	SYLTYIKLST	AIKRNENMAK	GLQRALLQQQ	PEDDSKRSPR
430	440	450	460	470	480
PQDLIRLYDI	ILQNLVELLQ	LPGLEEDKAF	QKEIGLKTLV	FKAYRCFFIA	QSYVLVKKWS
490	500	510	520	530	540
EALVLYDRVL	KYANEVNSDA	GAFKNSLKDL	PDVQELITQV	RSEKCSLQAA	AILDANDAHQ
550	560	570	580	590	600
TETSSSQVKD	NKPLVERFET	FCLDPSLVTK	QANLVHFPPG	FQPIPCKPLF	FDLALNHVAF
610	620
PPLEDKLEQK	TKSGLTGYIK	GIFGFRS