AiPD: Autoinhibited Protein Database

P41214

Gene name	EIF2D (HCA56, LGTN)
Protein name	Eukaryotic translation initiation factor 2D
Names	eIF2d, Hepatocellular carcinoma-associated antigen 56, Ligatin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1939
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

153-274 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

153-274 (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

4 structures for P41214

Entry ID	Method	Resolution	Chain	Position	Source
5OA3	EM	430 A	0	1-584	PDB
5OA9	X-ray	180 A	A	380-584	PDB
5W2F	X-ray	140 A	A	380-584	PDB
AF-P41214-F1	Predicted				AlphaFoldDB

400 variants for P41214

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1553414250 CA344475678	2	F>L		No	ClinGen gnomAD
rs782503178 CA1362867	3	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1401601010 CA344475650	7	R>G		No	ClinGen TOPMed gnomAD
CA344475649 rs1401601010	7	R>W		No	ClinGen TOPMed gnomAD
CA1362866 rs781828539	9	K>R		No	ClinGen ExAC gnomAD
CA344475629 rs1333816506	10	S>Y		No	ClinGen TOPMed
rs1357613035 CA344475620	11	N>K		No	ClinGen TOPMed
CA344475617 rs1572420896	12	T>A		No	ClinGen Ensembl
CA36549327 rs910517976	12	T>M		No	ClinGen Ensembl
rs1450375449 CA344475613	13	A>T		No	ClinGen TOPMed gnomAD
CA1362865 rs782732589	14	I>F		No	ClinGen ExAC gnomAD
rs1293967588 CA344475597	15	K>R		No	ClinGen TOPMed
rs201156687 CA1362863	18	D>E		No	ClinGen ExAC TOPMed gnomAD
CA344475578 rs1553414228	18	D>G		No	ClinGen gnomAD
rs986187988 CA344475581	18	D>N		No	ClinGen TOPMed gnomAD
CA36549323 rs986187988	18	D>Y		No	ClinGen TOPMed gnomAD
rs1572419223 CA344475546	21	K>E		No	ClinGen Ensembl
rs782610738 CA1362845	21	K>R		No	ClinGen ExAC gnomAD
COSM678925 CA344475533 rs1296295234	23	R>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA344475534 rs1296295234	23	R>G		No	ClinGen TOPMed gnomAD
rs781806458 CA1362844	23	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781806458 CA1362843 COSM3803673	23	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1553413978 CA344475524	25	D>H		No	ClinGen Ensembl
rs782156784 CA1362841	28	T>A		No	ClinGen ExAC gnomAD
rs1274821209 CA344475481	31	P>L		No	ClinGen TOPMed gnomAD
rs1553413972 CA344475479	32	T>A		No	ClinGen gnomAD
rs1468722275 CA344475477	32	T>N		No	ClinGen TOPMed
rs116290164 CA1362839	33	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1362837 rs543512703	34	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145688753 CA1362838	34	G>R		No	ClinGen ESP ExAC gnomAD
CA1362836 rs35905398	35	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782072696 CA1362835	35	T>I		No	ClinGen ExAC gnomAD
TCGA novel rs35905398 CA36548922	35	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA
CA344475456 rs1558543683	36	D>E		No	ClinGen Ensembl
rs1553413964 CA344475458	36	D>G		No	ClinGen gnomAD
rs1553413964 CA344475457	36	D>V		No	ClinGen gnomAD
CA344475450 rs1186584861	37	Q>R		No	ClinGen TOPMed
CA1362834 rs782439510	38	V>F		No	ClinGen ExAC TOPMed gnomAD
rs782439510 CA1362833	38	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1362832 rs782251294	41	L>F		No	ClinGen ExAC gnomAD
rs1419069369 CA344475409	44	G>R		No	ClinGen TOPMed
CA344475394 rs782629753	46	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782629753 CA1362831	46	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	48	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344475365 rs1316554770	50	I>F		No	ClinGen TOPMed
TCGA novel	50	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782353865 CA1362830	50	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344475360 rs1553413937	51	V>M		No	ClinGen gnomAD
rs1553413936 CA344475348	52	K>R		No	ClinGen gnomAD
rs377658933 CA1362828	56	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs540969749 CA36548883	56	H>Y		No	ClinGen Ensembl
CA344475309 rs1431649323	57	K>N		No	ClinGen TOPMed
rs782432836 CA1362827	60	A>S		No	ClinGen ExAC gnomAD
CA1362826 rs781901433	60	A>V		No	ClinGen ExAC gnomAD
rs1572418844 CA344475278	62	T>S		No	ClinGen Ensembl
rs782532326 CA344475262	65	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1362824 rs782532326	65	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA36548859 rs541069026	66	S>R		No	ClinGen 1000Genomes gnomAD
rs781857133 CA1362823	71	I>V		No	ClinGen ExAC gnomAD
rs1558543481 CA344475216	72	L>F		No	ClinGen Ensembl
CA1362822 rs782747509	77	K>E		No	ClinGen ExAC gnomAD
rs924216015 CA36548839	77	K>R		No	ClinGen TOPMed gnomAD
CA344475180 rs924216015	77	K>T		No	ClinGen TOPMed gnomAD
CA344475173 rs1335288012	78	N>S		No	ClinGen TOPMed
CA1362821 rs782085766	80	Y>H		No	ClinGen ExAC gnomAD
rs1553413888 CA344475150	82	T>A		No	ClinGen gnomAD
CA1362819 rs781814131	82	T>K		No	ClinGen ExAC gnomAD
CA344475126 rs782088220	83	V>A		No	ClinGen Ensembl
rs782088220 CA344475125	83	V>G		No	ClinGen Ensembl
CA1362802 rs200255569	85	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1553413419 CA344475103	87	W>*		No	ClinGen gnomAD
CA344475088 rs782792616	89	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1362800 rs782792616	89	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA36547914 rs782308802	89	Y>H		No	ClinGen gnomAD
rs781832586 CA1362798	95	T>A		No	ClinGen ExAC TOPMed gnomAD
rs782290015 CA36547895	97	T>I		No	ClinGen TOPMed gnomAD
rs868981514 CA344475036	98	T>A		No	ClinGen gnomAD
rs1268753133 CA344475029	99	W>R		No	ClinGen TOPMed
rs1553413400 CA344475003	103	L>V		No	ClinGen gnomAD
CA1362793 rs782149038	104	E>K		No	ClinGen ExAC TOPMed gnomAD
CA36547883 rs782022764	106	L>M		No	ClinGen gnomAD
CA1362791 rs782370942	107	V>L		No	ClinGen ExAC gnomAD
CA36547862 TCGA novel rs376006673	109	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP TOPMed
rs781954716 CA1362789	110	A>T		No	ClinGen ExAC TOPMed gnomAD
rs782328521 CA1362788	111	D>N		No	ClinGen ExAC gnomAD
CA1362773 rs781973670	112	L>F		No	ClinGen ExAC gnomAD
CA344474932 rs1553413135	113	M>V		No	ClinGen gnomAD
CA1362772 rs782748606	115	P>S		No	ClinGen ExAC gnomAD
rs1553413129 CA344474911	116	G>E		No	ClinGen gnomAD
CA344474903 rs1553413124	118	V>M		No	ClinGen gnomAD
CA1362770 rs781924535	119	M>I		No	ClinGen ExAC gnomAD
CA344474881 rs1553413121	121	P>S		No	ClinGen gnomAD
CA344474872 rs1295840985	122	A>V		No	ClinGen TOPMed
CA36547322 rs571382552	123	G>A		No	ClinGen 1000Genomes
rs782426517 CA36547318	124	L>P		No	ClinGen Ensembl
CA1362767 rs149773565	126	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1362766 rs782353493	127	V>L		No	ClinGen ExAC gnomAD
CA1362764 rs782572519	131	D>N		No	ClinGen ExAC gnomAD
rs1266621250 CA344474818	131	D>V		No	ClinGen TOPMed
CA36547275 rs782080412	133	C>G		No	ClinGen Ensembl
rs1553413095	134	A>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs782301117 CA1362763	137	L>F		No	ClinGen ExAC gnomAD
TCGA novel	139	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782671124 CA1362761	140	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1553412494 CA344474652	142	A>S		No	ClinGen gnomAD
rs201576433 CA36546110	143	P>S		No	ClinGen Ensembl
CA1362741 rs782217164	146	I>T		No	ClinGen ExAC gnomAD
rs1182558189 CA344474621	147	G>E		No	ClinGen TOPMed
CA1362740 rs782588357	149	A>G		No	ClinGen ExAC
rs1479229170 CA344474598	151	M>T		No	ClinGen TOPMed gnomAD
rs782443024 CA1362739	151	M>V		No	ClinGen ExAC TOPMed
rs782519843 CA1362736	156	M>I		No	ClinGen ExAC gnomAD
rs782678819 CA1362737	156	M>L		No	ClinGen ExAC gnomAD
COSM1127170 rs782724706 CA1362734	158	T>M	prostate Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA344474547 rs1553412469	159	S>A		No	ClinGen gnomAD
rs1553412464 CA344474515	164	R>T		No	ClinGen Ensembl
rs1553412463 CA344474494	167	S>Y		No	ClinGen gnomAD
CA36546050 rs200525541	168	V>L		No	ClinGen ExAC TOPMed gnomAD
rs200525541 CA1362731	168	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782143106 CA1362730	169	L>I		No	ClinGen ExAC gnomAD
CA1362729 rs781996552	169	L>P		No	ClinGen ExAC gnomAD
rs782777266 CA1362728	170	H>D		No	ClinGen ExAC gnomAD
CA344474477 rs1430822811	170	H>Q		No	ClinGen TOPMed
CA344474472 rs1553412453	171	T>N		No	ClinGen gnomAD
rs782093348 CA1362727	173	Q>H		No	ClinGen ExAC gnomAD
TCGA novel rs782329391 CA1362725	176	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs782187300 CA1362724	177	W>*		No	ClinGen ExAC gnomAD
CA36545033 rs899090291	178	R>Q		No	ClinGen TOPMed gnomAD
CA1362705 rs782155145	178	R>W		No	ClinGen ExAC TOPMed gnomAD
CA344474358 rs1456622794	185	P>A		No	ClinGen TOPMed
rs782386423 CA1362703	189	A>T		No	ClinGen ExAC TOPMed gnomAD
CA36545018 rs782359371	190	P>L		No	ClinGen Ensembl
TCGA novel	194	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344474225 rs1553411818	196	A>P		No	ClinGen gnomAD
CA344474209 rs1553411814	197	D>V		No	ClinGen gnomAD
CA1362701 rs781934615	198	L>F		No	ClinGen ExAC TOPMed gnomAD
CA344474201 rs781934615	198	L>V		No	ClinGen ExAC TOPMed gnomAD
CA36545013 rs116099502	199	S>G		No	ClinGen 1000Genomes gnomAD
rs1046377084 CA36544998	202	K>N		No	ClinGen Ensembl
rs567271586 CA1362697 CA344474120	203	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567271586 CA344474117	203	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553411787 CA344474099	204	S>Y		No	ClinGen gnomAD
CA344474085 rs1273236123	206	Q>*		No	ClinGen TOPMed gnomAD
rs377591079 CA36544981	209	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377591079 CA1362693	209	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_052507 rs35252702 CA1362692	210	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1553411756 CA344473999	212	Q>K		No	ClinGen gnomAD
rs936826164 CA36544972	212	Q>L		No	ClinGen TOPMed gnomAD
rs936826164 CA344473991	212	Q>P		No	ClinGen TOPMed gnomAD
CA1362690 rs781890491	214	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1362689 rs782783039	215	M>T		No	ClinGen ExAC gnomAD
CA344473946 rs1188815899	218	M>L		No	ClinGen TOPMed gnomAD
rs1188815899 CA344473945	218	M>V		No	ClinGen TOPMed gnomAD
rs1553411744 CA344473932	219	T>N		No	ClinGen gnomAD
CA1362688 rs782122473	221	E>D		No	ClinGen ExAC TOPMed
rs1472264524 CA344473919	222	G>R		No	ClinGen TOPMed gnomAD
rs370926484 CA1362687	225	E>G		No	ClinGen ESP ExAC gnomAD
CA1362686 rs782729323	227	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1553411738 CA344473869	229	V>I		No	ClinGen gnomAD
rs1553411732 CA344473851	231	Q>P		No	ClinGen gnomAD
CA1362685 rs782042902	232	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782024768 CA1362684	233	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782403954 CA1362683	233	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782024768 CA36544940	233	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1553411722 CA344473837	234	E>K		No	ClinGen gnomAD
rs964739920 CA36544925	236	K>T		No	ClinGen Ensembl
rs1293435754 CA344473782	242	P>S		No	ClinGen TOPMed gnomAD
rs782308845 CA1362677	244	D>H		No	ClinGen ExAC gnomAD
CA1362675 rs782292093	245	T>A		No	ClinGen ExAC TOPMed gnomAD
CA344473759 rs1558537347	245	T>I		No	ClinGen Ensembl
TCGA novel	248	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344473741 rs1281806111	248	R>T		No	ClinGen TOPMed gnomAD
CA1362674 rs782661144	249	G>A		No	ClinGen ExAC TOPMed gnomAD
CA1362673 rs567075895	250	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs377436569 CA36544901	250	L>Q		No	ClinGen ESP gnomAD
rs1278603970 CA344473711	253	D>N		No	ClinGen TOPMed
TCGA novel	254	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1362672 rs781861484	256	D>G		No	ClinGen ExAC gnomAD
CA344473684 rs1211867449	257	S>C		No	ClinGen TOPMed gnomAD
rs1211867449 CA344473685	257	S>G		No	ClinGen TOPMed gnomAD
CA1362671 rs150459038	259	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs868906833 CA36544852	260	L>P		No	ClinGen Ensembl
rs1553411687 CA344473651	262	E>Q		No	ClinGen gnomAD
TCGA novel	264	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1362651 rs781881927	264	M>T		No	ClinGen ExAC TOPMed gnomAD
CA1362650 rs372595769	266	E>K		No	ClinGen ESP ExAC gnomAD
CA1362649 rs782508989	269	Q>*		No	ClinGen ExAC gnomAD
rs782508989 CA344473478	269	Q>E		No	ClinGen ExAC gnomAD
CA1362648 rs781832835	270	Q>*		No	ClinGen ExAC gnomAD
CA344473466 rs781832835	270	Q>E		No	ClinGen ExAC gnomAD
rs782742515 CA344473456	270	Q>H		No	ClinGen ExAC gnomAD
CA36544563 rs980644757	272	F>L		No	ClinGen Ensembl
CA344473402 rs1175776063	274	H>R		No	ClinGen TOPMed gnomAD
CA344473404 rs1558536833	274	H>Y		No	ClinGen Ensembl
CA1362646 rs782452346	276	L>F		No	ClinGen ExAC gnomAD
CA1362645 rs781792031 COSM222632	279	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1362644 rs782812788	279	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA344473313 rs1553411491	281	K>*		No	ClinGen gnomAD
CA344473298 rs1553411485	282	K>E		No	ClinGen gnomAD
CA1362643 rs782153854	282	K>T		No	ClinGen ExAC gnomAD
rs1572402185 CA344473263	284	D>A		No	ClinGen Ensembl
CA344473222 rs1558536772	287	L>F		No	ClinGen Ensembl
rs369218105 CA36544544	287	L>S		No	ClinGen ESP
rs782004904 CA344473217	288	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782004904 CA1362642	288	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1572402128 CA344473213	289	T>P		No	ClinGen Ensembl
rs1371153832 CA344473199	291	T>A		No	ClinGen TOPMed
rs1553411473 CA344473192	291	T>S		No	ClinGen gnomAD
rs1393049402 CA344473178	292	F>S		No	ClinGen TOPMed
rs782103843 CA1362640	295	S>R		No	ClinGen ExAC gnomAD
rs1553411447 CA344473099	297	M>I		No	ClinGen gnomAD
CA1362638 rs782336121	297	M>T		No	ClinGen ExAC TOPMed gnomAD
rs781933639 CA1362639	297	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA36544517 rs782310697	299	S>F		No	ClinGen TOPMed gnomAD
rs782289470 CA1362637	300	C>R		No	ClinGen ExAC gnomAD
TCGA novel	302	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1362618 rs147679184	303	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs782220875 CA36541569	304	G>R		No	ClinGen gnomAD
CA1362616 rs782206827	305	R>*		No	ClinGen ExAC gnomAD
rs145436621 CA1362615	305	R>Q		No	ClinGen ESP ExAC gnomAD
rs1553411038 CA344472306	306	Q>H		No	ClinGen gnomAD
CA344472296 rs1161798812	308	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	310	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782290554 CA1362614	311	K>N		No	ClinGen ExAC gnomAD
CA1362612 rs782669547	315	K>E		No	ClinGen ExAC gnomAD
rs1553410934 CA344472150	319	K>R		No	ClinGen gnomAD
rs782226386 CA1362592	322	Q>P		No	ClinGen ExAC gnomAD
rs782562908 CA1362591	323	Q>K		No	ClinGen ExAC gnomAD
rs145540129 CA1362590	328	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1362589 rs368930245	331	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs782651039 CA1362588	331	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA36541423 rs561865523	334	E>*		No	ClinGen 1000Genomes TOPMed
CA344471978 rs561865523	334	E>K		No	ClinGen 1000Genomes TOPMed
TCGA novel	336	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781828758 CA1362586	336	S>N		No	ClinGen ExAC TOPMed
rs1553410915 CA344471954	337	K>R		No	ClinGen gnomAD
CA344471917 rs1178295629	342	I>T		No	ClinGen TOPMed
CA344471895 rs1553410912	345	V>G		No	ClinGen gnomAD
rs1572398080 CA344471887	346	D>G		No	ClinGen Ensembl
rs374775590 CA36541419	347	W>G		No	ClinGen ESP
CA36541416 rs542336235	349	H>P		No	ClinGen 1000Genomes
COSM1338292 CA1362584 rs199944579	350	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs782160113 CA1362554	353	T>S		No	ClinGen ExAC gnomAD
rs782006470 CA1362553	354	S>T		No	ClinGen ExAC gnomAD
rs782750982 CA344471698	355	F>L		No	ClinGen ExAC gnomAD
CA1362552 rs782750982	355	F>V		No	ClinGen ExAC gnomAD
CA1362549 rs34138767	356	V>I		No	ClinGen TOPMed gnomAD
CA344471679 rs34138767	356	V>L		No	ClinGen TOPMed gnomAD
rs782326068 CA1362546	358	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM1500746 rs371055570 CA1362543	359	E>*	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed
CA36541314 rs953670399	359	E>A		No	ClinGen Ensembl
rs371055570 CA1362544	359	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1345620830 CA344471606	361	S>A		No	ClinGen TOPMed
rs1553410837 CA344471599 COSM1338291	361	S>F	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1345620830 CA344471613	361	S>T		No	ClinGen TOPMed
CA1362542 rs139092708	362	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139092708 CA344471586	362	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1362540 rs782493368	363	T>I		No	ClinGen ExAC gnomAD
rs1553410825 CA344471524	369	E>D		No	ClinGen gnomAD
rs1320219494 CA344471518	370	G>V		No	ClinGen TOPMed
CA344471508 rs1553410821	372	R>K		No	ClinGen gnomAD
rs922353220 CA36541298	372	R>W		No	ClinGen Ensembl
CA344471493 rs1224062541	374	Q>*		No	ClinGen TOPMed gnomAD
rs1553410819 CA344471490	374	Q>L		No	ClinGen gnomAD
rs1572397417 CA344471487	375	P>S		No	ClinGen Ensembl
CA344471469 rs782589702	377	H>P		No	ClinGen ExAC gnomAD
rs782589702 CA1362538	377	H>R		No	ClinGen ExAC gnomAD
rs782530389 CA1362537	380	D>G		No	ClinGen ExAC gnomAD
rs1572397392 CA344471434	382	K>N		No	ClinGen Ensembl
CA1362536 rs781899272	383	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1362535 rs782788097	386	C>W		No	ClinGen ExAC gnomAD
rs782476553 CA1362534	389	A>T		No	ClinGen ExAC gnomAD
rs976530592 CA344471385	390	S>N		No	ClinGen TOPMed gnomAD
rs976530592 CA36541279	390	S>T		No	ClinGen TOPMed gnomAD
CA1362533 rs200122925	391	M>V		No	ClinGen ExAC TOPMed gnomAD
rs782694328 CA1362532	392	T>I		No	ClinGen ExAC gnomAD
CA344471372 rs1261006592	392	T>S		No	ClinGen TOPMed
rs372492833 CA1362529	396	Q>*		No	ClinGen ESP ExAC gnomAD
rs959947881 CA36541049	406	L>V		No	ClinGen Ensembl
CA1362511 rs782084550	411	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM108156 rs139900838 CA1362509	412	R>*	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1362508 rs543704357	412	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA1362507 rs369659631	413	T>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1423487635 CA344471054	414	I>V		No	ClinGen TOPMed
CA1362504 rs781957066 COSM902969	415	V>I	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1397565428 CA344471025	416	I>V		No	ClinGen TOPMed gnomAD
rs1043512171 CA36540994	417	N>S		No	ClinGen Ensembl
rs1386428805 CA344470956	419	A>T		No	ClinGen TOPMed gnomAD
CA1362502 rs782187995	419	A>V		No	ClinGen ExAC
CA1362501 rs116454317	421	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1362499 rs782293898	429	N>H		No	ClinGen ExAC gnomAD
rs1458065257 CA344470187	432	L>P		No	ClinGen TOPMed
rs201352069 CA1362478	432	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1336377867 CA344470183	433	V>M		No	ClinGen TOPMed
CA344470151 rs1553410350	437	P>L		No	ClinGen gnomAD
rs868931000 CA344470156	437	P>S		No	ClinGen Ensembl
CA1362477 rs782531373	438	I>V		No	ClinGen ExAC gnomAD
rs868957572 COSM1180408 CA344470144	439	L>I	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1380837887 CA344470141	439	L>P		No	ClinGen TOPMed
CA36540371 rs782113463	440	C>S		No	ClinGen ExAC TOPMed gnomAD
CA1362475 rs782113463	440	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs782523276 CA1362474	441	D>G		No	ClinGen ExAC TOPMed gnomAD
rs781842982 CA1362473	443	I>N		No	ClinGen ExAC gnomAD
CA1362472 rs142664077	444	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA344470073 rs1553410331	448	E>D		No	ClinGen gnomAD
rs782452874 CA1362471	449	Q>E		No	ClinGen ExAC gnomAD
CA344470067 rs1553410315	449	Q>H		No	ClinGen gnomAD
rs377303536 CA1362470	449	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA344470063 rs1553410310	450	H>R		No	ClinGen gnomAD
rs1318546843 CA344470057	451	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	452	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344470042 rs1553410297	453	M>T		No	ClinGen gnomAD
CA1362468 rs782121005	454	K>E		No	ClinGen ExAC gnomAD
rs1553410280 CA344470018	456	P>L		No	ClinGen gnomAD
TCGA novel	457	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150077489 CA1362467 CA36540363	457	W>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA1362466 rs567680991	457	W>S		No	ClinGen 1000Genomes ExAC gnomAD
CA1362465 rs782097617	458	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA344470001 rs1553410272	459	S>N		No	ClinGen gnomAD
CA344469997 rs113368228	459	S>R		No	ClinGen Ensembl
TCGA novel	466	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA36540081 rs75924881	468	L>F		No	ClinGen Ensembl
TCGA novel	471	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA344469728 rs1553409942	472	Y>C		No	ClinGen gnomAD
rs782113928 CA1362445	473	Q>H		No	ClinGen ExAC gnomAD
rs782800859 CA1362446	473	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs782338216 CA1362443	476	L>P		No	ClinGen ExAC gnomAD
rs151278422 CA1362441	478	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343312339 CA344469660	479	Q>R		No	ClinGen TOPMed
rs1553409929 CA344469646	480	E>K		No	ClinGen gnomAD
TCGA novel	481	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279927343 CA344469605	482	I>T		No	ClinGen TOPMed gnomAD
rs1221353430 CA344469614	482	I>V		No	ClinGen TOPMed
rs782296528 CA1362439	488	I>V		No	ClinGen ExAC gnomAD
rs565398704 CA1362438	489	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1553409908 CA344469465	491	I>T		No	ClinGen gnomAD
rs1553409912 CA344469473	491	I>V		No	ClinGen gnomAD
CA344469451 rs1253372600	492	D>V		No	ClinGen TOPMed
rs1483145500 CA344469422	494	T>S		No	ClinGen TOPMed
CA1362436 rs782214425	495	L>I		No	ClinGen ExAC gnomAD
COSM1473324 rs782620699 CA1362435	498	R>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA344469356 rs1198242711	499	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA344469347 rs1553409892	500	S>C		No	ClinGen gnomAD
rs1553409886 CA344469333	501	N>S		No	ClinGen gnomAD
rs781803000 CA1362433	503	K>R		No	ClinGen ExAC gnomAD
rs1352355213 CA344469123	504	V>M		No	ClinGen TOPMed gnomAD
rs750328100 CA344469110	506	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1362411 rs750328100	506	V>M		No	ClinGen ExAC TOPMed gnomAD
CA1362409 rs782819581	508	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs781892470 CA1362410	508	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1327814653 CA344469081	511	E>Q		No	ClinGen TOPMed
CA344469074 rs1371687526	512	A>T		No	ClinGen TOPMed
rs1553409507 CA344469065	513	Y>C		No	ClinGen gnomAD
CA344469037 rs782512577	517	P>L		No	ClinGen ExAC gnomAD
CA1362408 rs782512577	517	P>R		No	ClinGen ExAC gnomAD
CA1362407 rs781871445	519	S>L		No	ClinGen ExAC gnomAD
CA1362406 rs782744896	522	A>G		No	ClinGen ExAC gnomAD
CA36539779 rs992204055	526	Q>*		No	ClinGen Ensembl
CA1362405 rs782099201	527	R>*		No	ClinGen ExAC gnomAD
CA1362404 rs781921108	527	R>Q		No	ClinGen ExAC TOPMed
rs541965110 CA1362403	528	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	532	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572388368 CA344468904	532	T>P		No	ClinGen Ensembl
rs782147752 CA1362402 COSM252578	534	V>I	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs369044999 CA1362401	535	N>S		No	ClinGen ESP ExAC gnomAD
rs999365915 CA36539773	536	P>T		No	ClinGen Ensembl
CA1362400 rs781901466	537	A>V		No	ClinGen ExAC TOPMed gnomAD
CA344468824 rs145036685	538	P>L		No	ClinGen ESP TOPMed gnomAD
rs145036685 CA36539771	538	P>R		No	ClinGen ESP TOPMed gnomAD
rs1488348436 CA344468806	540	A>S		No	ClinGen TOPMed gnomAD
rs1553409473 CA344468793	541	K>E		No	ClinGen gnomAD
rs1553409468 CA344468754	543	S>N		No	ClinGen gnomAD
CA1362398 rs143192959	544	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA344468711 rs1255400386	546	V>G		No	ClinGen TOPMed
CA344468698 rs1553409463	547	Q>R		No	ClinGen gnomAD
CA1362396 rs782352838	551	N>H		No	ClinGen ExAC gnomAD
CA344468623 rs868941789	552	Q>*		No	ClinGen TOPMed
rs782170758 CA1362395	553	V>I		No	ClinGen ExAC gnomAD
CA344468584 rs1553409453	555	H>Y		No	ClinGen gnomAD
CA1362392 rs546078025	557	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs889688397 CA36539759	557	G>V		No	ClinGen Ensembl
rs147301171 CA1362388	561	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs147301171 CA1362389	561	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434296504 CA344468492	561	L>R		No	ClinGen TOPMed
CA1362387 rs782467360	562	E>K		No	ClinGen ExAC gnomAD
CA36539386 rs111674209 CA36539388	563	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA1362362 CA1362361 rs781908586	565	Q>H		No	ClinGen ExAC gnomAD
CA1362363 rs782685927	565	Q>R		No	ClinGen ExAC gnomAD
CA344468297 rs1553409014	566	L>F		No	ClinGen gnomAD
rs782781640 CA1362360	567	P>A		No	ClinGen ExAC gnomAD
rs782781640 CA344468286	567	P>S		No	ClinGen ExAC gnomAD
rs1048233667 CA36539377	568	R>L		No	ClinGen Ensembl
rs147027070 CA36539372	572	Q>R		No	ClinGen ESP
TCGA novel	574	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413743050 CA344468177	577	A>V		No	ClinGen TOPMed
rs781941149 CA1362355	579	K>T		No	ClinGen ExAC gnomAD
TCGA novel	580	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1362354 rs782404942	581	G>D		No	ClinGen ExAC gnomAD
CA1362353 rs782287764	585	K>R		No	ClinGen ExAC
rs1553408985 CA344468002	585	K>W		No	ClinGen gnomAD

No associated diseases with P41214

5 regional properties for P41214

Type	Name	Position	InterPro Accession
domain	SUI1 domain	490 - 567	IPR001950
domain	PUA domain	99 - 175	IPR002478
domain	SWIB/MDM2 domain	383 - 467	IPR003121
domain	Eukaryotic translation initiation factor 2D, SUI1 domain	490 - 574	IPR039759
domain	Pre-PUA domain	2 - 90	IPR041366

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm
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.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.

3 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
signaling receptor activity	Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response.
translation initiation factor activity	Functions in the initiation of ribosome-mediated translation of mRNA into a polypeptide.

4 GO annotations of biological process

Name	Definition
formation of translation preinitiation complex	The joining of the small ribosomal subunit, ternary complex, and mRNA.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
IRES-dependent viral translational initiation	Process by which viral mRNA translation is initiated, where a domain in the 5' untranslated region (UTR) of the viral mRNA called an internal ribosome entry site (IRES) binds the host 43S preinitiation complex, circumventing regular cap-dependent translation initiation.
ribosome disassembly	The disaggregation of a ribosome into its constituent components; includes the dissociation of ribosomal subunits.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MFAKAFRVKS	NTAIKGSDRR	KLRADVTTAF	PTLGTDQVSE	LVPGKEELNI	VKLYAHKGDA
70	80	90	100	110	120
VTVYVSGGNP	ILFELEKNLY	PTVYTLWSYP	DLLPTFTTWP	LVLEKLVGGA	DLMLPGLVMP
130	140	150	160	170	180
PAGLPQVQKG	DLCAISLVGN	RAPVAIGVAA	MSTAEMLTSG	LKGRGFSVLH	TYQDHLWRSG
190	200	210	220	230	240
NKSSPPSIAP	LALDSADLSE	EKGSVQMDST	LQGDMRHMTL	EGEEENGEVH	QAREDKSLSE
250	260	270	280	290	300
APEDTSTRGL	NQDSTDSKTL	QEQMDELLQQ	CFLHALKCRV	KKADLPLLTS	TFLGSHMFSC
310	320	330	340	350	360
CPEGRQLDIK	KSSYKKLSKF	LQQMQQEQII	QVKELSKGVE	SIVAVDWKHP	RITSFVIPEP
370	380	390	400	410	420
SPTSQTIQEG	SREQPYHPPD	IKPLYCVPAS	MTLLFQESGH	KKGSFLEGSE	VRTIVINYAK
430	440	450	460	470	480
KNDLVDADNK	NLVRLDPILC	DCILEKNEQH	TVMKLPWDSL	LTRCLEKLQP	AYQVTLPGQE
490	500	510	520	530	540
PIVKKGRICP	IDITLAQRAS	NKKVTVVRNL	EAYGLDPYSV	AAILQQRCQA	STTVNPAPGA
550	560	570	580
KDSLQVQIQG	NQVHHLGWLL	LEEYQLPRKH	IQGLEKALKP	GKKK