AiPD: Autoinhibited Protein Database

Q53EL6

Gene name	PDCD4 (H731)
Protein name	Programmed cell death protein 4
Names	Neoplastic transformation inhibitor protein, Nuclear antigen H731-like, Protein 197/15a
Species	Homo sapiens (Human)
KEGG Pathway	hsa:27250
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-177 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-177 (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

6 structures for Q53EL6

Entry ID	Method	Resolution	Chain	Position	Source
2GGF	NMR	-	A	327-450	PDB
2KZT	NMR	-	A	157-318	PDB
2RG8	X-ray	180 A	A/B	157-320	PDB
2ZU6	X-ray	280 A	B/E	163-469	PDB
3EIJ	X-ray	280 A	A/B	157-469	PDB
AF-Q53EL6-F1	Predicted				AlphaFoldDB

385 variants for Q53EL6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	4	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213229997 rs1042791585	5	N>D		No	ClinGen Ensembl
CA378368833 rs1357664180	5	N>K		No	ClinGen gnomAD
CA378368839 rs1276664552	6	E>G		No	ClinGen TOPMed
rs1313614902 CA378368846	7	Q>R		No	ClinGen gnomAD
CA5688830 rs567621997	9	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747952890 CA5688831	10	N>S		No	ClinGen ExAC gnomAD
rs758308338 CA5688832	11	V>E		No	ClinGen ExAC TOPMed gnomAD
CA5688833 rs777831270	12	N>H		No	ClinGen ExAC gnomAD
rs746965287 CA5688834	13	P>L		No	ClinGen ExAC gnomAD
CA378368886 rs1211587984	14	A>T		No	ClinGen gnomAD
rs750372044 CA5688872	16	P>R		No	ClinGen ExAC
CA5688874 rs760881155	17	D>G		No	ClinGen ExAC TOPMed
rs779547967 CA5688876	19	L>V		No	ClinGen ExAC gnomAD
rs1590729598 CA378370192	21	D>G		No	ClinGen Ensembl
CA213233675 rs748885694	22	S>A		No	ClinGen ExAC gnomAD
CA378370196 rs748885694	22	S>P		No	ClinGen ExAC gnomAD
rs748885694 CA5688877	22	S>T		No	ClinGen ExAC gnomAD
TCGA novel rs867172891 CA213233710	23	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1461480925 CA378370217	24	F>L		No	ClinGen TOPMed
CA5688880 rs748515325	26	G>C		No	ClinGen ExAC gnomAD
rs772371476 CA5688882	26	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748515325 CA378370245	26	G>R		No	ClinGen ExAC gnomAD
rs748515325 CA378370243	26	G>S		No	ClinGen ExAC gnomAD
rs772371476 CA5688881	26	G>V		No	ClinGen ExAC gnomAD
rs770975772 CA5688885	27	D>G		No	ClinGen ExAC gnomAD
CA5688884 rs770975772	27	D>V		No	ClinGen ExAC gnomAD
CA5688883 rs761116622	27	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5688886 rs759745491	28	E>D		No	ClinGen ExAC gnomAD
rs929481066 CA213233788	31	A>G		No	ClinGen Ensembl
CA5688888 rs765548604	32	G>R		No	ClinGen ExAC gnomAD
CA378370349 rs1239692318	35	E>K		No	ClinGen gnomAD
CA378370364 CA5688891 rs7081726	36	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_028901 CA5688890 rs7081726	36	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1449717787 CA378370474	43	N>K		No	ClinGen TOPMed
CA378370487 rs1467524808	44	W>*		No	ClinGen gnomAD
rs1396804919 CA378370553	47	A>V		No	ClinGen gnomAD
CA213233810 VAR_028902 rs11548765	48	S>Y		No	ClinGen UniProt Ensembl dbSNP
COSM3414686 rs754525539 CA5688896	52	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778515611 CA5688897	54	R>S		No	ClinGen ExAC TOPMed gnomAD
rs747779859 CA5688898	55	I>T		No	ClinGen ExAC gnomAD
CA378370728 rs1243557143	57	A>V		No	ClinGen gnomAD
CA378370736 rs1275158753	58	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA378370740 rs1344628987	58	K>T		No	ClinGen gnomAD
CA378370793 rs1309789467	61	R>T		No	ClinGen Ensembl
CA378370805 rs1198778956	62	R>*		No	ClinGen TOPMed gnomAD
CA5688899 rs753384652	62	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5688901 rs747489510	65	K>E		No	ClinGen ExAC gnomAD
TCGA novel	65	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271345510 CA378370874	66	N>D		No	ClinGen TOPMed
TCGA novel	66	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378370916 rs1430624093	67	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs181745202 CA378370935	69	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184353935 CA5688904 COSM914769	69	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5688903 rs181745202	69	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1031562149 CA213233840	74	G>S		No	ClinGen Ensembl
rs1376671303 CA378371058	75	D>Y		No	ClinGen gnomAD
rs763092811 CA5688907	76	S>L		No	ClinGen ExAC gnomAD
CA378371131 rs1022370581	78	S>R		No	ClinGen TOPMed gnomAD
CA5688909 rs199962747	79	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	79	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA213233869 rs369195524	80	S>I		No	ClinGen ESP TOPMed gnomAD
rs1590729810 CA378371175	81	G>E		No	ClinGen Ensembl
CA213233872 rs200304334	83	D>G		No	ClinGen TOPMed
rs375978756 CA5688912	84	A>T	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs938868213 CA213233904	87	S>N		No	ClinGen TOPMed gnomAD
rs752326682 CA5688915	93	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5688916 rs757998140	95	P>L		No	ClinGen ExAC gnomAD
rs747327011 CA378371643	98	R>G		No	ClinGen ExAC gnomAD
rs781757524 CA5688921	98	R>S		No	ClinGen ExAC gnomAD
CA5688919 rs757733929	98	R>T		No	ClinGen ExAC gnomAD
TCGA novel	99	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289224158 CA378371681	101	D>N		No	ClinGen gnomAD
rs775450189 CA5688923	102	R>G		No	ClinGen ExAC TOPMed
rs749445123 CA5688924	102	R>K		No	ClinGen ExAC TOPMed
CA5688925 rs768759653	103	R>*		No	ClinGen ExAC gnomAD
CA378371759 COSM1345781 rs1384886007	103	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs774676407 CA5688926	105	R>I		No	ClinGen ExAC
CA5688927 rs760442992	106	S>P		No	ClinGen ExAC gnomAD
rs766183774 CA5688928	107	G>W		No	ClinGen ExAC gnomAD
CA378371966 rs1354656210	110	R>K		No	ClinGen TOPMed
CA378371970 rs1354656210	110	R>T		No	ClinGen TOPMed
TCGA novel	111	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5688929 rs776512326	114	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1265381193 CA378372150	115	K>N		No	ClinGen gnomAD
rs966049027 CA213233966	116	G>R		No	ClinGen gnomAD
CA5688949 rs759382340	117	G>V		No	ClinGen ExAC gnomAD
rs769612669 CA5688950	118	A>V		No	ClinGen ExAC TOPMed gnomAD
VAR_036375	120	G>R	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1354099961 CA378372502	121	K>R		No	ClinGen gnomAD
CA5688951 rs775535333	123	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1166185435 CA378372568	124	W>S		No	ClinGen TOPMed
CA378372588 rs1294447935	125	G>R		No	ClinGen gnomAD
rs762345099 CA5688952	125	G>V		No	ClinGen ExAC gnomAD
CA378372633 rs144931822	127	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5688954 rs144931822	127	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5688953 rs763678257	127	P>S		No	ClinGen ExAC gnomAD
rs138747298 CA378372671	129	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5688956 rs138747298	129	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA378372730 rs1254977470	131	Y>C		No	ClinGen gnomAD
CA5688957 rs750814638	132	D>H		No	ClinGen ExAC gnomAD
CA5688959 rs780404376	135	E>G		No	ClinGen ExAC gnomAD
rs1258168442 CA378372817	135	E>Q		No	ClinGen gnomAD
rs754393050 CA5688960	136	V>A		No	ClinGen ExAC gnomAD
CA5688961 rs754972985	137	D>N		No	ClinGen ExAC gnomAD
CA378372941 rs1449725238	140	D>G		No	ClinGen TOPMed
rs779056168 CA5688962	141	P>A		No	ClinGen ExAC gnomAD
rs748311371 CA5688963	142	N>D		No	ClinGen ExAC gnomAD
rs772268671 CA5688964	143	Y>*		No	ClinGen ExAC gnomAD
CA213234886 rs886553790	143	Y>C		No	ClinGen Ensembl
CA5688965 rs778035152	144	D>H		No	ClinGen ExAC TOPMed gnomAD
CA213234898 rs112160079	145	D>G		No	ClinGen Ensembl
CA378373744 rs1429034519	147	Q>P		No	ClinGen TOPMed gnomAD
rs754232081 CA5688980	148	E>G		No	ClinGen ExAC TOPMed gnomAD
rs892568940 CA378374109	148	E>K		No	ClinGen TOPMed gnomAD
rs892568940 CA213235971	148	E>Q		No	ClinGen TOPMed gnomAD
rs1286276842 CA378374152	149	N>Y		No	ClinGen gnomAD
rs755520898 CA5688981	150	C>R		No	ClinGen ExAC gnomAD
rs779453915 CA5688982	150	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA5688983 rs537255147	152	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1365379379 CA378374313	156	V>A		No	ClinGen TOPMed
rs758512409 CA5688984	157	L>W		No	ClinGen ExAC gnomAD
rs200942827 CA378374345	158	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1303330432 CA378374356	158	P>L		No	ClinGen TOPMed
CA5688985 rs200942827	158	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5688987 rs769434043	160	D>G		No	ClinGen ExAC gnomAD
rs1426142880 CA378374444	162	R>S		No	ClinGen TOPMed
CA378374486 rs1160752097	164	F>L		No	ClinGen gnomAD
CA5688988 rs779900905	165	E>G		No	ClinGen ExAC TOPMed gnomAD
CA213236022 rs1015868493	167	T>S		No	ClinGen Ensembl
rs1167414733 CA378374577	169	T>A		No	ClinGen TOPMed
CA378374589 rs1391814352	169	T>I		No	ClinGen TOPMed gnomAD
CA378374582 rs1391814352	169	T>K		No	ClinGen TOPMed gnomAD
CA378374652 rs1189408052	173	Q>K		No	ClinGen TOPMed
CA5688995 rs772960063	177	E>G		No	ClinGen ExAC gnomAD
CA378374797 rs1269356174	178	H>Q		No	ClinGen TOPMed
rs1351374271 CA378374785 COSM1345784	178	H>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs766595732 CA5688997	180	D>H		No	ClinGen ExAC gnomAD
CA378374817 rs766595732	180	D>N		No	ClinGen ExAC gnomAD
CA5688998 rs777039009	183	E>V		No	ClinGen ExAC gnomAD
rs200393046 CA5688999	185	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1003396354 CA378376202 CA213237068	187	M>I		No	ClinGen TOPMed gnomAD
CA5689018 rs201623242	188	L>*		No	ClinGen 1000Genomes ExAC
rs41292600 CA5689019	189	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378376260 rs1311189203	190	D>V		No	ClinGen TOPMed
CA378376273 rs1396521321	191	L>F		No	ClinGen TOPMed gnomAD
CA5689020 rs763452587	193	L>F		No	ClinGen ExAC gnomAD
CA213237077 rs959239636	194	G>R		No	ClinGen TOPMed gnomAD
CA5689022 rs764099903	198	S>N		No	ClinGen ExAC
rs376917609 CA5689023	200	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447381821 CA378376416	201	P>L		No	ClinGen TOPMed
rs757323188 CA5689024	201	P>T		No	ClinGen ExAC TOPMed gnomAD
rs767761336 CA5689025	203	L>V		No	ClinGen ExAC TOPMed gnomAD
CA378376461 rs1397258170	206	S>P		No	ClinGen gnomAD
COSM348182 CA213237108 rs969840522	207	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs750636925 CA5689026	208	A>G		No	ClinGen ExAC gnomAD
rs1177095959 CA378376472	208	A>T		No	ClinGen TOPMed
TCGA novel	210	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754782069 CA5689027	210	E>G		No	ClinGen ExAC
rs778856470 CA5689028	211	G>E		No	ClinGen ExAC gnomAD
rs1434931936 CA378376498	212	K>*		No	ClinGen TOPMed
TCGA novel	213	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378376511 rs1378529994	214	S>G		No	ClinGen TOPMed
CA5689029 rs748042810	214	S>T		No	ClinGen ExAC gnomAD
CA213237133 rs758398677	215	H>D		No	ClinGen ExAC
CA5689031 rs1554849129	215	H>Q		No	ClinGen Ensembl
CA5689030 rs758398677	215	H>Y		No	ClinGen ExAC
CA378376522 rs1347179253	216	R>G		No	ClinGen gnomAD
rs756620076 CA213237156	218	M>L		No	ClinGen TOPMed gnomAD
rs777636393 CA5689033	219	T>I		No	ClinGen ExAC gnomAD
CA5689036 rs780848195	222	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780848195 CA378376565	222	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1590733652 CA378376574	223	L>P		No	ClinGen Ensembl
rs745534774 CA5689037	224	S>A		No	ClinGen ExAC gnomAD
CA378376579 rs1390441443	224	S>C		No	ClinGen gnomAD
CA5689038 rs770073462	225	D>G		No	ClinGen ExAC gnomAD
rs770073462 CA378376584	225	D>V		No	ClinGen ExAC gnomAD
rs769124369 CA5689041	231	M>L		No	ClinGen ExAC TOPMed gnomAD
rs769124369 CA378376621	231	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5689042 rs144940985	233	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378376659 rs1382434729	234	T>I		No	ClinGen gnomAD
rs1240317987 CA378376677	235	D>V		No	ClinGen TOPMed
CA5689043 rs761908977	237	E>K		No	ClinGen ExAC gnomAD
rs1378950716 CA378376715	238	K>E		No	ClinGen TOPMed
rs767528747 CA378376732	238	K>N		No	ClinGen ExAC gnomAD
CA213237193 rs865934261	239	S>L		No	ClinGen Ensembl
rs750593071 CA5689045	240	F>C		No	ClinGen ExAC gnomAD
CA5689047 rs766768166	241	D>E		No	ClinGen ExAC gnomAD
CA5689046 rs760992270	241	D>N		No	ClinGen ExAC gnomAD
rs1206135326 CA378376816	243	L>F		No	ClinGen gnomAD
CA5689049 rs752537911	245	K>E		No	ClinGen ExAC gnomAD
CA213237200 rs754289029	246	D>V		No	ClinGen gnomAD
CA5689051 rs777743234	248	P>L		No	ClinGen ExAC gnomAD
rs751472771 CA5689052	249	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1312844894 CA378376901	249	E>Q		No	ClinGen TOPMed
rs1158979152 CA596112406	250	L>*		No	ClinGen gnomAD
CA378376988 rs1394007923	254	T>S		No	ClinGen gnomAD
CA378377003 rs1438896262	255	P>L		No	ClinGen gnomAD
rs780567877 CA5689054	257	A>G		No	ClinGen ExAC gnomAD
CA5689053 rs756748410	257	A>T		No	ClinGen ExAC gnomAD
rs780567877 CA213237221	257	A>V		No	ClinGen ExAC gnomAD
rs1304423355 CA378377047	258	P>L		No	ClinGen TOPMed
rs1390927597 CA378377053	259	Q>*		No	ClinGen gnomAD
CA213238397 rs748913599	260	L>*		No	ClinGen Ensembl
CA5689082 rs755673044	260	L>F		No	ClinGen ExAC gnomAD
rs1564683988 CA378377878	260	L>V		No	ClinGen Ensembl
rs1189865825 CA378377905	261	V>L		No	ClinGen gnomAD
rs1057259812 CA213238407	262	G>D		No	ClinGen TOPMed
CA378378010 rs895581330	264	F>L		No	ClinGen TOPMed
rs1428214433 CA378378036	265	I>T		No	ClinGen gnomAD
rs964246467 CA213238414	266	A>P		No	ClinGen gnomAD
CA5689083 rs779635916	267	R>G		No	ClinGen ExAC TOPMed gnomAD
rs375591447 CA213238419	267	R>T		No	ClinGen ESP TOPMed
CA378378240 rs1430507077	270	G>E		No	ClinGen gnomAD
TCGA novel	270	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5689085 rs755307065	271	D>N		No	ClinGen ExAC gnomAD
rs1416985285 CA378378384	275	C>F		No	ClinGen gnomAD
CA5689086 rs779160464	276	N>T		No	ClinGen ExAC gnomAD
rs1590734982 CA378378409	277	T>I		No	ClinGen Ensembl
rs772454958 CA5689088	278	Y>F		No	ClinGen ExAC gnomAD
CA5689090 rs544209088	283	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378378583 rs1279499972	286	V>I		No	ClinGen gnomAD
CA378378585 rs1279499972	286	V>L		No	ClinGen gnomAD
rs368436688 CA213238486	287	D>Y		No	ClinGen ESP TOPMed
rs776952437 CA5689092	288	C>F		No	ClinGen ExAC TOPMed gnomAD
CA378378630 rs776952437	288	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs532996701 CA213238534	289	V>L		No	ClinGen ExAC TOPMed gnomAD
rs532996701 CA5689093	289	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5689094 rs372001367	290	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	291	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184949067 CA378378695	291	A>G		No	ClinGen gnomAD
rs1485427378 CA378378684	291	A>T		No	ClinGen TOPMed gnomAD
CA378378703 rs1421951482	292	R>G		No	ClinGen gnomAD
rs1435285762 CA378378904	292	R>S		No	ClinGen gnomAD
CA5689110 rs746014894	296	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378379047 rs1312253949	297	K>R		No	ClinGen gnomAD
rs1438023901 CA378379084	299	T>N		No	ClinGen gnomAD
CA5689111 rs147480610	299	T>P		No	ClinGen ESP ExAC
rs767334928 CA5689114	300	V>A		No	ClinGen ExAC gnomAD
rs367566735 CA5689113	300	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1564684394 CA378379181	303	S>G		No	ClinGen Ensembl
CA378379188 rs1392496609	303	S>N		No	ClinGen TOPMed
CA378379218 rs1269860775	304	M>T		No	ClinGen gnomAD
CA5689115 rs371329972	306	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA378379289 rs1271539499	307	G>D		No	ClinGen gnomAD
rs139917275 CA5689116	307	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378379312 rs1416053062	308	G>E		No	ClinGen TOPMed
rs531616594 CA5689117	308	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5689119 rs374836268	310	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5689120 rs550404806 COSM1474346	310	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378379365 rs550404806	310	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5689121 rs752414435	311	K>E		No	ClinGen ExAC gnomAD
CA5689122 rs758648222	312	D>E		No	ClinGen ExAC gnomAD
CA5689123 rs778286423	313	S>C		No	ClinGen ExAC gnomAD
rs778286423 CA378379426	313	S>G		No	ClinGen ExAC gnomAD
rs1163715434 CA378379431	313	S>N		No	ClinGen gnomAD
CA378379486 rs1391890758	314	V>L		No	ClinGen gnomAD
rs1391890758 CA378379459	314	V>M		No	ClinGen gnomAD
rs376713943 CA5689126	315	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA213239109 rs887854410	319	G>D		No	ClinGen TOPMed gnomAD
rs745902660 CA5689127	319	G>S		No	ClinGen ExAC gnomAD
rs143809858 CA5689128	322	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376398898 CA5689130	323	S>F		No	ClinGen ESP ExAC gnomAD
rs772978175 CA5689132	325	N>K		No	ClinGen ExAC gnomAD
CA5689131 rs771800757	325	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5689134 rs760531189	326	H>N		No	ClinGen ExAC gnomAD
CA5689133 rs760531189	326	H>Y		No	ClinGen ExAC gnomAD
CA378379858 rs1272293316	327	L>R		No	ClinGen gnomAD
rs1436162730 CA378379861	328	V>I		No	ClinGen TOPMed gnomAD
CA213239131 rs1015425056	330	E>G		No	ClinGen TOPMed
rs374848737 CA213241148	331	I>T		No	ClinGen ESP TOPMed gnomAD
CA5689146 rs780200316	331	I>V		No	ClinGen ExAC
CA5689149 rs768862705	333	M>I		No	ClinGen ExAC gnomAD
rs1186333996 CA378382163	333	M>R		No	ClinGen TOPMed
rs749390244 CA5689148	333	M>V		No	ClinGen ExAC gnomAD
CA378382255 rs1590737621	335	L>P		No	ClinGen Ensembl
rs762304760 CA5689147	336	K>I		No	ClinGen ExAC gnomAD
rs369217017 CA213241162	336	K>T		No	ClinGen ESP
CA5689152 rs770737625	340	L>P		No	ClinGen ExAC gnomAD
rs1261901307 CA378382448	341	S>F		No	ClinGen TOPMed
rs140003204 CA5689154	341	S>P		No	ClinGen ESP ExAC gnomAD
rs1206764549 CA378382545	344	I>V		No	ClinGen TOPMed
CA5689156 rs775048388	347	A>G		No	ClinGen ExAC TOPMed gnomAD
rs149843890 CA5689158	349	H>Q		No	ClinGen ESP ExAC gnomAD
CA5689157 rs376545464	349	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA378382923 rs1324959451	351	L>R		No	ClinGen gnomAD
CA378383006 rs1437354350	353	E>V		No	ClinGen gnomAD
CA5689160 rs751303419	357	P>A		No	ClinGen ExAC
CA378383140 rs1428971586	357	P>R		No	ClinGen TOPMed
CA378383160 rs1453582771	358	H>N		No	ClinGen TOPMed gnomAD
CA378383171 rs1384367918	358	H>P		No	ClinGen TOPMed
CA378383258 rs1389241432	360	H>L		No	ClinGen TOPMed
rs1232670290 CA378383311	361	H>R		No	ClinGen TOPMed gnomAD
CA378383377 rs1590737726	362	E>A		No	ClinGen Ensembl
CA378383360 rs1425664029	362	E>K		No	ClinGen TOPMed
rs972670523 CA213241234	363	L>F		No	ClinGen Ensembl
rs750840584 CA378383440	364	V>I		No	ClinGen ExAC gnomAD
CA5689163 rs750840584 CA378383455	364	V>L		No	ClinGen ExAC gnomAD
CA378383507 rs756635108	365	Y>C		No	ClinGen ExAC gnomAD
rs756635108 CA5689164	365	Y>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378383570 rs1260593375	366	E>V		No	ClinGen gnomAD
rs1269363476 CA378383779	368	I>V		No	ClinGen TOPMed gnomAD
CA378383847 rs1433771389	369	I>M		No	ClinGen gnomAD
rs761574880 CA5689180	370	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5689181 rs530829510	371	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA213241355 rs888942231	372	L>F		No	ClinGen TOPMed
rs144787375 CA5689182	375	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5689183 rs760985930	375	T>S		No	ClinGen ExAC gnomAD
rs766888430 CA5689184	378	S>G		No	ClinGen ExAC gnomAD
CA213241370 rs1051077978	379	T>A		No	ClinGen TOPMed
rs1334162593 CA378384182	379	T>I		No	ClinGen gnomAD
CA378384243 rs1459927671	381	K>R		No	ClinGen TOPMed gnomAD
CA213241374 rs1018737801	382	M>K		No	ClinGen Ensembl
CA5689186 rs755013174	388	K>N		No	ClinGen ExAC TOPMed gnomAD
rs752856164 CA5689189	393	S>F		No	ClinGen ExAC gnomAD
CA5689192 rs777919101	395	T>A		No	ClinGen ExAC TOPMed gnomAD
CA378384922 rs1249568853	398	V>I		No	ClinGen gnomAD
rs146453067 CA213241415 CA5689194	399	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA378384959 rs1473433434	399	D>G		No	ClinGen TOPMed gnomAD
CA378384976 rs41292604	400	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5689195 rs41292604	400	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	400	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5689196 rs41292604	400	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201057391 CA5689197	401	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201057391 CA378385027	401	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1460161552 CA378385041	402	K>Q		No	ClinGen TOPMed
rs773986613 CA5689198	402	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1261069819 CA378385084	403	R>*		No	ClinGen gnomAD
rs771508745 CA5689221	406	E>*		No	ClinGen ExAC gnomAD
CA378386378 rs771508745	406	E>K		No	ClinGen ExAC gnomAD
COSM1219912 rs1304191314 CA378386417	407	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA378386440 rs1381157237	408	I>N		No	ClinGen gnomAD
CA378386450 rs1294681278	409	Y>N		No	ClinGen gnomAD
CA5689222 rs777444760	410	N>S		No	ClinGen ExAC gnomAD
CA213242834 rs199762223	411	E>G		No	ClinGen gnomAD
CA213242821 rs374546633	411	E>Q		No	ClinGen ESP TOPMed
TCGA novel	412	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143151331 CA5689224	413	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378386576 rs1365873367	414	D>N		No	ClinGen gnomAD
CA213242846 rs1056452207	415	I>M		No	ClinGen gnomAD
CA5689227 rs368052826	415	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378386625 rs1249918283	416	N>I		No	ClinGen gnomAD
CA5689228 rs776025596	418	D>H		No	ClinGen ExAC gnomAD
CA213242864 rs776025596	418	D>N		No	ClinGen ExAC gnomAD
rs763039400 CA5689229	418	D>V		No	ClinGen ExAC gnomAD
CA378386668 rs1473372461	419	V>I		No	ClinGen gnomAD
rs1423734676 CA378386681	420	P>A		No	ClinGen gnomAD
rs1432966036 CA378386744	423	Y>*		No	ClinGen TOPMed
rs764110867 CA5689230	423	Y>F		No	ClinGen ExAC gnomAD
CA5689231 rs201111696	424	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5689232 rs761929919	425	V>L		No	ClinGen ExAC gnomAD
rs761929919 CA378386762	425	V>M		No	ClinGen ExAC gnomAD
rs1044402783 CA213242899	426	L>V		No	ClinGen Ensembl
CA213242939 rs754874118	428	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM2052893 CA5689235 rs754874118	428	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5689234 rs146655374	428	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378386851 rs1365471615	433	C>R		No	ClinGen gnomAD
CA5689237 rs778948738	434	F>S		No	ClinGen ExAC TOPMed gnomAD
rs140405638 CA5689239	440	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330994142 CA378386905	441	K>E		No	ClinGen TOPMed
rs1207007562 CA378386922	443	L>F		No	ClinGen gnomAD
CA213243040 rs1011701988	443	L>H		No	ClinGen Ensembl
CA378386925 rs1307479951	444	R>G		No	ClinGen gnomAD
rs1564686355 CA378386934	445	D>H		No	ClinGen Ensembl
TCGA novel	445	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378386942 rs1465379744	446	L>F		No	ClinGen gnomAD
rs371874400 CA5689242	446	L>H		No	ClinGen ExAC TOPMed gnomAD
rs371874400 CA5689241	446	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1352027977 CA378386957	448	P>L		No	ClinGen gnomAD
rs1245472758 CA378386959	449	S>A		No	ClinGen gnomAD
TCGA novel	450	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378386982 rs1192297207	450	R>K		No	ClinGen TOPMed gnomAD
CA378386986 rs1192297207	450	R>M		No	ClinGen TOPMed gnomAD
rs1162301395 CA378387202	454	R>C		No	ClinGen gnomAD
rs148548339 COSM914773 CA5689266	458	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs775565291 CA5689268	462	G>D		No	ClinGen ExAC gnomAD
rs185959051 CA5689269	463	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378387393 rs1407754128	463	R>H		No	ClinGen TOPMed gnomAD
CA378387422 rs1350898145	465	K>Q		No	ClinGen gnomAD
rs1177628721 CA378387452	466	P>L		No	ClinGen gnomAD
CA213244792 rs1049144897	466	P>T		No	ClinGen TOPMed
rs1282676060 CA378387520	469	Y>*		No	ClinGen gnomAD
CA378387512 rs1244270078	469	Y>H		No	ClinGen TOPMed gnomAD
rs780773533 CA5689270	470	Y>W		No	ClinGen ExAC gnomAD

No associated diseases with Q53EL6

2 regional properties for Q53EL6

Type	Name	Position	InterPro Accession
domain	Initiation factor eIF-4 gamma, MA3	163 - 284	IPR003891-1
domain	Initiation factor eIF-4 gamma, MA3	326 - 449	IPR003891-2

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Shuttles between the nucleus and cytoplasm (By similarity) Predominantly nuclear under normal growth conditions, and when phosphorylated at Ser-457 (PubMed:16357133)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

1 GO annotations of molecular function

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

15 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
BMP signaling pathway	The series of molecular signals initiated by the binding of a member of the BMP (bone morphogenetic protein) family to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
cellular response to lipopolysaccharide	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 a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
epithelial to mesenchymal transition involved in cardiac fibroblast development	A transition where an epicardial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell that will mature into a cardiac fibroblast.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of cytokine production involved in inflammatory response	Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of JUN kinase activity	Any process that stops, prevents, or reduces the frequency, rate or extent of JUN kinase activity.
negative regulation of myofibroblast differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of myofibroblast differentiation.
negative regulation of vascular associated smooth muscle cell differentiation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell differentiation.
negative regulation of vascular associated smooth muscle cell proliferation	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle cell proliferation.
positive regulation of endothelial cell apoptotic process	Any process that activates or increases the frequency, rate or extent of endothelial cell apoptotic process.
positive regulation of inflammatory response	Any process that activates or increases the frequency, rate or extent of the inflammatory response.
positive regulation of NIK/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of NIK/NF-kappaB signaling.
positive regulation of vascular associated smooth muscle cell apoptotic process	Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell apoptotic process.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q61823	Pdcd4	Programmed cell death protein 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDVENEQILN	VNPADPDNLS	DSLFSGDEEN	AGTEEIKNEI	NGNWISASSI	NEARINAKAK
70	80	90	100	110	120
RRLRKNSSRD	SGRGDSVSDS	GSDALRSGLT	VPTSPKGRLL	DRRSRSGKGR	GLPKKGGAGG
130	140	150	160	170	180
KGVWGTPGQV	YDVEEVDVKD	PNYDDDQENC	VYETVVLPLD	ERAFEKTLTP	IIQEYFEHGD
190	200	210	220	230	240
TNEVAEMLRD	LNLGEMKSGV	PVLAVSLALE	GKASHREMTS	KLLSDLCGTV	MSTTDVEKSF
250	260	270	280	290	300
DKLLKDLPEL	ALDTPRAPQL	VGQFIARAVG	DGILCNTYID	SYKGTVDCVQ	ARAALDKATV
310	320	330	340	350	360
LLSMSKGGKR	KDSVWGSGGG	QQSVNHLVKE	IDMLLKEYLL	SGDISEAEHC	LKELEVPHFH
370	380	390	400	410	420
HELVYEAIIM	VLESTGESTF	KMILDLLKSL	WKSSTITVDQ	MKRGYERIYN	EIPDINLDVP
430	440	450	460
HSYSVLERFV	EECFQAGIIS	KQLRDLCPSR	GRKRFVSEGD	GGRLKPESY