AiPD: Autoinhibited Protein Database

O00425

Gene name	IGF2BP3 (IMP3, KOC1, VICKZ3)
Protein name	Insulin-like growth factor 2 mRNA-binding protein 3
Names	IGF2 mRNA-binding protein 3, IMP-3, IGF-II mRNA-binding protein 3, KH domain-containing protein overexpressed in cancer, hKOC, VICKZ family member 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10643
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

131-227 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

131-227 (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 O00425

Entry ID	Method	Resolution	Chain	Position	Source
2E44	NMR	-	A	73-161	PDB
6FQ1	X-ray	131 A	A/B	1-161	PDB
6FQR	X-ray	210 A	A/B	1-161	PDB
6GQE	X-ray	215 A	A	192-355	PDB
6GX6	X-ray	200 A	A	1-161	PDB
AF-O00425-F1	Predicted				AlphaFoldDB

376 variants for O00425

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA367032307 rs1434180462	2	N>S		No	ClinGen gnomAD
CA155277823 rs866732298	3	K>R		No	ClinGen Ensembl
rs747793381 CA4188676	6	I>V		No	ClinGen ExAC gnomAD
rs1207419530 CA367032163	7	G>E		No	ClinGen gnomAD
CA155277819 rs267601464 CA367032178	7	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1249596392 CA367032112	10	S>G		No	ClinGen gnomAD
CA4188674 rs768186705	10	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749219627 CA367032042	11	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4188671 rs745674577	14	A>P		No	ClinGen ExAC TOPMed gnomAD
rs745674577 CA367031969	14	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4188670 rs745674577 COSM1210355	14	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4188669 rs781070241	14	A>V		No	ClinGen ExAC TOPMed gnomAD
CA367031942 rs1383748379	15	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	16	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180958605 CA367031890	17	D>E		No	ClinGen gnomAD
rs1393681002 CA367031829	19	E>D		No	ClinGen gnomAD
CA155277799 rs1044219622	19	E>G		No	ClinGen Ensembl
rs1411182650 CA367031875	19	E>K		No	ClinGen gnomAD
rs751758650 CA4188667	20	S>I		No	ClinGen ExAC gnomAD
rs1467008367 CA367031768	21	I>M		No	ClinGen TOPMed gnomAD
rs1379822770 CA367031742	22	F>L		No	ClinGen gnomAD
CA367031752 rs1217901484	22	F>Y		No	ClinGen TOPMed
rs1244328176 CA367031733	23	K>Q		No	ClinGen TOPMed
CA155277793 rs948598625	24	D>N		No	ClinGen TOPMed
CA4188665 rs758475141	24	D>V		No	ClinGen ExAC TOPMed gnomAD
CA367031520 rs1009078893	28	P>A		No	ClinGen TOPMed gnomAD
CA4188664 rs753260949	28	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1009078893 CA155277789	28	P>S		No	ClinGen TOPMed gnomAD
CA4188662 rs765747204	30	S>A		No	ClinGen ExAC gnomAD
rs1345641764 CA367031428	31	G>V		No	ClinGen gnomAD
CA367031409 rs1264870353	32	P>H		No	ClinGen gnomAD
rs1264870353 CA367031395	32	P>L		No	ClinGen gnomAD
CA155277779 rs917155310	37	T>A		No	ClinGen TOPMed gnomAD
CA4188658 rs761419066	38	G>S		No	ClinGen ExAC gnomAD
CA4188655 rs748797144	45	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4188654 rs775086521	45	P>R		No	ClinGen ExAC gnomAD
rs748797144 CA367030931	45	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1353876896 CA367030922	46	D>N		No	ClinGen TOPMed
rs1161735300 CA367030891	47	E>A		No	ClinGen gnomAD
CA4188653 rs137919890	47	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287008864 CA367030865	48	S>C		No	ClinGen TOPMed
rs1468798013 CA367030847 CA367030846	49	W>R		No	ClinGen TOPMed gnomAD
CA4188652 rs745764463	50	A>T		No	ClinGen ExAC gnomAD
CA367030765 rs1223111079	52	K>R		No	ClinGen gnomAD
rs757054049 CA4188650	53	A>D		No	ClinGen ExAC gnomAD
rs1358719858 CA367030752	53	A>T		No	ClinGen gnomAD
CA367030731 rs1289316910	54	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367030629 rs1363883172	60	K>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1163032464 CA367030624	61	I>L		No	ClinGen gnomAD
rs377308655 CA4188624	61	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs145383204 CA4188623	64	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA367030597 CA155277297 rs1030332560	65	G>R		No	ClinGen TOPMed gnomAD
rs750807156 CA4188622	67	P>L		No	ClinGen ExAC gnomAD
CA4188621 rs771910177	68	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	69	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367030549 rs1404862846	72	H>Y		No	ClinGen gnomAD
rs752376439 CA4188619	75	P>L		No	ClinGen ExAC gnomAD
rs1275794129 CA367030518	77	R>G		No	ClinGen gnomAD
CA4188618 rs764881846	78	Q>H		No	ClinGen ExAC gnomAD
CA367030507 rs1364321219	78	Q>R		No	ClinGen TOPMed gnomAD
rs207467730 CA155277287	79	R>W		No	ClinGen Ensembl
TCGA novel	81	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867509588 CA155774410	82	K>E		No	ClinGen Ensembl
rs757666193 CA4188598	84	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs752466492 CA367051575	86	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764971109 CA4188596	86	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA155774409 rs952968136	87	N>S		No	ClinGen TOPMed
CA367051561 rs1175005573	88	I>T		No	ClinGen gnomAD
CA367051557 rs1238608549	89	P>A		No	ClinGen TOPMed gnomAD
rs866738454 CA367051554	89	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA155774408 rs866738454	89	P>Q		No	ClinGen gnomAD
CA367051556 rs1238608549	89	P>S		No	ClinGen TOPMed gnomAD
CA367051549 rs1028445948	90	P>L		No	ClinGen TOPMed gnomAD
rs1028445948 CA155774407	90	P>R		No	ClinGen TOPMed gnomAD
CA367051516 rs1562741302	95	E>K		No	ClinGen Ensembl
CA155766447 rs994854170	96	V>E		No	ClinGen Ensembl
TCGA novel	97	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367051462 rs1583935251	100	L>S		No	ClinGen Ensembl
CA4188571 rs761675498	100	L>V		No	ClinGen ExAC TOPMed gnomAD
CA367051453 rs1171706041	102	V>L		No	ClinGen gnomAD
CA367051447 rs1432164396	103	Q>E		No	ClinGen gnomAD
rs763288801 CA4188569	103	Q>H		No	ClinGen ExAC gnomAD
CA367051444 rs1260077794	103	Q>R		No	ClinGen gnomAD
rs775544360 CA4188567	104	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs769982735 CA4188566	106	V>A		No	ClinGen ExAC gnomAD
rs769982735 CA367051424	106	V>G		No	ClinGen ExAC gnomAD
CA367051428 rs1316755630	106	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	108	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367051409 rs1356856553	109	S>C		No	ClinGen TOPMed
rs868302250 CA155766445	109	S>N		No	ClinGen Ensembl
CA367051399 rs1220405372	110	C>Y		No	ClinGen gnomAD
TCGA novel	112	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188166980 CA367051353	114	N>K		No	ClinGen gnomAD
rs1249502025 CA367051351	115	T>A		No	ClinGen gnomAD
rs984633564 CA155766443	116	D>N		No	ClinGen TOPMed
CA4188543 rs547179518	117	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA367051335 rs1486180154	117	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1549331 rs267601463 CA155766441	118	E>K	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs927892677 CA155766439	121	V>A		No	ClinGen TOPMed gnomAD
CA367051310 rs1562699556	122	V>I		No	ClinGen Ensembl
CA4188542 rs772541065	123	N>H		No	ClinGen ExAC gnomAD
TCGA novel	127	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188540 rs368084654	128	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188541 rs368084654	128	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	129	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188537 rs533687503	131	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	131	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1046386034 CA155766438	134	Q>L		No	ClinGen TOPMed
CA4188516 rs758300630	135	A>V		No	ClinGen ExAC gnomAD
rs1363296458 CA367051201	136	L>V		No	ClinGen TOPMed gnomAD
rs140223241 CA4188515	137	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188514 rs778612348	140	N>S		No	ClinGen ExAC gnomAD
rs754815264 CA4188513	142	F>L		No	ClinGen ExAC gnomAD
CA367051150 rs1396978380	143	Q>H		No	ClinGen TOPMed
rs754167099 CA4188512	145	E>K		No	ClinGen ExAC
CA367051125 rs1181571260	147	F>V		No	ClinGen gnomAD
CA4188511 rs766719076	148	T>A		No	ClinGen ExAC gnomAD
CA367051115 rs1297164256	148	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4188509 rs547579398	151	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547579398 CA4188508	151	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4188507 rs762279624	152	A>T		No	ClinGen ExAC gnomAD
CA4188506 rs774895082	154	I>M		No	ClinGen ExAC gnomAD
CA367051081 rs1284706312	154	I>V		No	ClinGen gnomAD
rs764513381 CA4188505	155	P>A		No	ClinGen ExAC gnomAD
rs763291807 CA4188504	157	E>V		No	ClinGen ExAC gnomAD
CA4188503 rs775775992	158	M>V		No	ClinGen ExAC gnomAD
TCGA novel	159	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188501 rs145484983 COSM3950354	160	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	161	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380747881 COSM385065 CA367051015	163	N>K	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1360069964 CA367051011	164	P>S		No	ClinGen gnomAD
CA155765191 rs1019815599	165	L>F		No	ClinGen gnomAD
rs568078899 CA4188500	166	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA367050981 rs1583921123	168	P>L		No	ClinGen Ensembl
rs1472384679 CA367050984	168	P>S		No	ClinGen gnomAD
CA367050980 rs1554317381	169	R>G		No	ClinGen Ensembl
CA4188498 rs748099553	169	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA155765190 rs1004450085	170	G>D		No	ClinGen TOPMed
CA4188497 rs778896736	171	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370236925 CA4188496	171	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA367050965 rs571595293	172	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571595293 CA4188495	172	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367050966 rs1261964708	172	R>W		No	ClinGen gnomAD
rs995547495 CA155765189	173	G>A		No	ClinGen Ensembl
CA4188494 rs149743260	173	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA367050949 rs1254861488	175	G>A		No	ClinGen TOPMed
CA4188493 rs756424235	177	R>S		No	ClinGen ExAC gnomAD
CA367050927 rs1468858135	178	G>V		No	ClinGen TOPMed
rs375685826 CA4188492	179	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs375685826 CA4188491	179	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428999753 CA367050915	181	R>W		No	ClinGen gnomAD
CA367050903 CA4188490 rs757358032	182	Q>H		No	ClinGen ExAC gnomAD
CA367050899 rs1303963475	183	G>E		No	ClinGen TOPMed gnomAD
CA367050897 rs1303963475	183	G>V		No	ClinGen TOPMed gnomAD
rs1583920934 CA367050894	184	S>A		No	ClinGen Ensembl
CA4188489 rs752068342	186	G>E		No	ClinGen ExAC gnomAD
CA4188488 rs764598942	187	S>T		No	ClinGen ExAC gnomAD
rs765538897 CA4188485	188	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4188486 rs765538897	188	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1460251109 CA367050868	189	S>A		No	ClinGen TOPMed
CA367050856 rs1583920867	191	Q>K		No	ClinGen Ensembl
CA155765185 rs922551718	192	K>N		No	ClinGen TOPMed gnomAD
CA367050838 rs1169461434	193	P>L		No	ClinGen gnomAD
CA155765184 rs1056253827	199	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs375664637 CA4188482	199	R>H		No	ClinGen ESP ExAC gnomAD
CA4188481 rs747703326	202	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4188480 rs773927629	204	T>A		No	ClinGen ExAC gnomAD
CA367050772 rs1562692613	204	T>I		No	ClinGen Ensembl
TCGA novel	207	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367050742 rs1213230548	209	A>P		No	ClinGen gnomAD
CA367050728 rs1284244961	211	I>L		No	ClinGen TOPMed gnomAD
rs1231301593 CA367050708	214	E>Q		No	ClinGen TOPMed
CA367050694 rs1274801230	216	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs907011940 CA155765183	219	R>Q		No	ClinGen TOPMed gnomAD
rs274055 CA367050675	219	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367050656 rs1442973991	222	T>A		No	ClinGen gnomAD
CA155765181 rs768787847	223	K>N		No	ClinGen TOPMed
rs1355079493 CA367050626	226	Q>R		No	ClinGen gnomAD
rs373728961 CA4188442	229	I>V		No	ClinGen ESP ExAC gnomAD
CA4188440 rs145205704	230	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs368967486 CA155764746	233	R>C		No	ClinGen ESP TOPMed
CA367050538 rs1352858647	236	N>K		No	ClinGen TOPMed gnomAD
CA155764745 rs202212306	237	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367050537 rs1166596665	237	A>T		No	ClinGen TOPMed gnomAD
CA4188436 rs202212306	237	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4188433 rs773405940	238	G>R		No	ClinGen ExAC gnomAD
CA4188430 rs778818606	239	A>D		No	ClinGen ExAC
CA4188431 rs748227548	239	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1301977392 CA367050522	240	A>S		No	ClinGen gnomAD
CA4188428 rs749735512	243	S>L		No	ClinGen ExAC gnomAD
CA4188423 COSM1088600 rs758058585	247	L>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4188424 rs758058585	247	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1165999962 CA367050440	253	T>A		No	ClinGen gnomAD
rs759569507 CA4188420	253	T>S		No	ClinGen ExAC gnomAD
TCGA novel	255	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367050425 rs1454088546	255	A>V		No	ClinGen TOPMed
rs766252548 CA4188418	256	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760473724 CA4188417	257	C>F		No	ClinGen ExAC gnomAD
CA4188416 rs772920816	258	K>*		No	ClinGen ExAC gnomAD
rs772311748 CA4188415	258	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	259	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748319756 CA4188414	260	I>V		No	ClinGen ExAC gnomAD
TCGA novel	262	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177452564 CA367050363	265	H>Y		No	ClinGen gnomAD
rs148506805 CA4188413	270	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4188412 rs768585874	271	I>K		No	ClinGen ExAC TOPMed gnomAD
rs768585874 CA155764744	271	I>T		No	ClinGen ExAC TOPMed gnomAD
CA155764743 rs929290976	273	F>L		No	ClinGen TOPMed gnomAD
rs767277587 CA4188390	274	T>R		No	ClinGen ExAC gnomAD
rs774430566 CA4188388	276	E>A		No	ClinGen ExAC gnomAD
rs1196900918 CA367050270	276	E>D		No	ClinGen gnomAD
rs1480900223 CA367050274	276	E>Q		No	ClinGen gnomAD
rs768840788 CA4188387	277	I>M		No	ClinGen ExAC gnomAD
CA367050242 COSM172669 rs1430803133	280	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1266661493 CA367050225	283	A>S		No	ClinGen gnomAD
CA367050186 rs1458981821	288	V>D		No	ClinGen gnomAD
rs894328352 CA155764560	290	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1323850105 CA367050174	290	R>H	Variant assessed as Somatic; 4.676e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	295	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367050108 rs1371233673	300	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1055617075 CA155764557	304	Q>R		No	ClinGen TOPMed gnomAD
rs1045498755 CA155764556	305	D>V		No	ClinGen TOPMed
CA4188385 rs375047828	305	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs770455230 CA4188384	307	D>G		No	ClinGen ExAC gnomAD
TCGA novel	309	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470491549 CA367050029	311	T>M		No	ClinGen TOPMed gnomAD
CA155764555 rs185559134	312	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4188382 rs185559134	312	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs560236629 CA4188363	316	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs747336827 CA4188362	317	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4188361 rs149351958	319	T>M		No	ClinGen ESP ExAC TOPMed
CA367049955 rs1554315919	321	Y>C		No	ClinGen Ensembl
TCGA novel	325	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199566927 CA4188356	326	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1088598 CA4188357 rs199566927	326	T>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs781122825 CA4188355	327	I>V		No	ClinGen ExAC TOPMed gnomAD
rs757153698 CA4188354	332	N>D		No	ClinGen ExAC gnomAD
TCGA novel	332	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4188353 rs138930849	333	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA367049870 rs1359003978	334	E>D		No	ClinGen gnomAD
rs763900292 CA4188352	334	E>Q		No	ClinGen ExAC gnomAD
CA155764331 rs1049142269	336	C>R		No	ClinGen TOPMed
CA4188351 rs763138561	337	A>V		No	ClinGen ExAC gnomAD
CA367049828 rs1235431545	341	E>K		No	ClinGen TOPMed
CA367049816 rs1327285637	342	E>G		No	ClinGen TOPMed gnomAD
rs1327285637 CA367049815	342	E>V		No	ClinGen TOPMed gnomAD
CA367049773 rs1300248519	348	R>G		No	ClinGen gnomAD
CA367049769 rs1398290060	348	R>T		No	ClinGen gnomAD
rs1359975429 CA367049761	349	E>V		No	ClinGen TOPMed gnomAD
rs374001153 CA155764330	353	N>D		No	ClinGen ESP TOPMed gnomAD
rs1583911470 CA367049718	355	I>T		No	ClinGen Ensembl
CA4188350 rs752940566	355	I>V		No	ClinGen ExAC gnomAD
rs765483180 CA4188349	356	A>S		No	ClinGen ExAC gnomAD
rs1161287479 CA367049711	356	A>V		No	ClinGen gnomAD
CA367049704 rs769464943	358	M>L		No	ClinGen TOPMed
rs759678982 CA4188348	358	M>T		No	ClinGen ExAC gnomAD
rs769464943 CA155764329	358	M>V		No	ClinGen TOPMed
CA4188347 rs150697725	359	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1197331465 CA367049651	363	H>Q		No	ClinGen gnomAD
rs1422415339 CA367049616	369	N>D		No	ClinGen TOPMed gnomAD
rs1262863560 CA367049600	371	N>S		No	ClinGen gnomAD
CA4188329 rs758211117	372	A>G		No	ClinGen ExAC TOPMed gnomAD
rs373913315 CA155764141	372	A>T		No	ClinGen TOPMed gnomAD
CA4188328 rs753028772	373	L>V		No	ClinGen ExAC gnomAD
rs765558584 CA367049572	376	F>S		No	ClinGen ExAC gnomAD
rs765558584 CA4188327	376	F>Y		No	ClinGen ExAC gnomAD
rs1317560327 CA367049539	381	G>V		No	ClinGen gnomAD
CA367049531 rs1309817650	382	M>I		No	ClinGen TOPMed
rs890261339 CA155764139	384	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1231107845 CA367049507	386	T>I		No	ClinGen TOPMed
CA4188325 rs757499568	387	S>L		No	ClinGen ExAC gnomAD
CA367049498 rs1365580064	388	G>E		No	ClinGen TOPMed gnomAD
CA367049491 rs1583909420	389	P>L		No	ClinGen Ensembl
CA4188324 rs766457068	389	P>S		No	ClinGen ExAC gnomAD
rs1377480948 CA367049490	390	P>T		No	ClinGen gnomAD
CA367049477 rs761125063	392	A>S		No	ClinGen ExAC gnomAD
CA4188323 rs761125063	392	A>T		No	ClinGen ExAC gnomAD
rs1399153517 CA367049470	393	M>T		No	ClinGen TOPMed gnomAD
rs773764892 CA4188322	393	M>V		No	ClinGen ExAC gnomAD
rs1375370412 CA367049461	394	T>S		No	ClinGen Ensembl
CA4188321 rs767827310	395	P>S		No	ClinGen ExAC gnomAD
rs762250184 CA4188320	396	P>A		No	ClinGen ExAC gnomAD
rs1562685938 CA367049452	396	P>H		No	ClinGen Ensembl
rs138438351 CA4188316	398	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138438351 CA155764137	398	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188317 rs550216915	398	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA155764136 rs923969118	400	F>L		No	ClinGen TOPMed
rs1457589991 CA367049424	400	F>L		No	ClinGen gnomAD
CA367029174 rs1301883958	404	E>G		No	ClinGen gnomAD
CA367029177 rs1291591368	404	E>Q		No	ClinGen TOPMed
rs1038589927 CA155305615	405	T>A		No	ClinGen TOPMed gnomAD
CA4188292 rs778889037	405	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1419645758 CA367029144	409	H>Y		No	ClinGen gnomAD
rs371279641 CA155305581	412	I>V		No	ClinGen ESP
rs749580605 CA4188290	414	A>S		No	ClinGen ExAC gnomAD
CA4188288 rs756222683	415	L>V		No	ClinGen ExAC TOPMed gnomAD
rs376603163 CA367029067	421	I>M		No	ClinGen ESP ExAC gnomAD
CA367029057 rs1308722871	423	K>M		No	ClinGen Ensembl
CA367029048 rs1583876724	424	Q>R		No	ClinGen Ensembl
CA367029035 rs1245403247	426	Q>R		No	ClinGen gnomAD
rs780077238 CA155305561	429	K>R		No	ClinGen Ensembl
rs752949360 CA367028988	433	R>C		No	ClinGen ExAC gnomAD
rs752949360 CA4188281	433	R>G		No	ClinGen ExAC gnomAD
rs766062357 CA4188280	433	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1161075703 CA367028983	434	F>L		No	ClinGen TOPMed
TCGA novel	435	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760193366 CA4188279	439	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4188278 rs772825263	440	K>T		No	ClinGen ExAC gnomAD
rs1230387067 CA367028903	444	A>V		No	ClinGen gnomAD
CA367028893 rs1362988797	446	A>T		No	ClinGen TOPMed
CA367028883 rs1242853030	447	P>L		No	ClinGen gnomAD
rs140311149 CA4188252	447	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	447	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375151454 CA367028880	448	D>N		No	ClinGen gnomAD
CA367028867 rs1164692358	450	K>E		No	ClinGen gnomAD
CA155303777 rs559286597	451	V>M		No	ClinGen 1000Genomes
rs866229652 COSM1450065 CA155303758	453	M>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA155303751 rs980537757	453	M>R		No	ClinGen TOPMed gnomAD
CA367028846 rs980537757	453	M>T		No	ClinGen TOPMed gnomAD
rs1285963768 CA367028820	457	T>A		No	ClinGen TOPMed
CA4188251 rs762751520	457	T>S		No	ClinGen ExAC
CA4188250 rs775406714	461	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1394469176 CA367028791	462	A>T		No	ClinGen gnomAD
rs1374990867 CA367028732	468	G>E		No	ClinGen TOPMed
CA367028710 rs1562663364	471	Y>F		No	ClinGen Ensembl
rs1583869058 CA367028706	472	G>R		No	ClinGen Ensembl
CA4188231 rs199812608 COSM1088593	474	I>M	liver endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367028654 rs1280211291	479	F>L		No	ClinGen TOPMed gnomAD
CA4188227 rs747207098	481	S>N		No	ClinGen ExAC gnomAD
rs369702590 CA4188226	482	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327124989 CA367028624	483	K>I		No	ClinGen TOPMed
CA4188225 rs772038256	486	V>M		No	ClinGen ExAC gnomAD
CA4188223 rs779299710	490	A>V		No	ClinGen ExAC gnomAD
TCGA novel	501	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs187762001 CA4188221	501	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs79900450 CA4188220	503	I>T		No	ClinGen ESP ExAC gnomAD
rs1293076822 CA367028478	505	K>R		No	ClinGen TOPMed
COSM1254653 CA367028450 rs1200211397	509	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA367028434 rs1314969033	510	V>G		No	ClinGen TOPMed
CA4188209 rs760950049	513	L>V		No	ClinGen ExAC TOPMed gnomAD
CA367028406 rs1391164582	514	Q>R		No	ClinGen TOPMed
TCGA novel	515	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196998875 CA367028367	520	E>K		No	ClinGen gnomAD
rs145056288 CA4188204	522	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1347096401 CA367028343	523	V>G		No	ClinGen gnomAD
rs1301137425 CA367028342	524	P>T		No	ClinGen gnomAD
rs78711689 CA4188203 COSM137480	525	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367028330 rs1377373590	526	D>H		No	ClinGen TOPMed gnomAD
rs1005320062 CA155299070	536	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	539	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179130528 CA367028226	540	T>I		No	ClinGen TOPMed
TCGA novel	543	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367028186 rs1415663741	546	C>Y		No	ClinGen gnomAD
CA4188199 rs376068537	547	Q>L		No	ClinGen ESP ExAC gnomAD
rs1353286143 CA367028138	551	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1229998806 CA367028136	551	R>S		No	ClinGen TOPMed
TCGA novel	553	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418843895 CA367028107	555	E>V		No	ClinGen TOPMed gnomAD
CA367028087 rs1474317678	558	T>I		No	ClinGen gnomAD
CA367028078 rs1488751318	560	V>I		No	ClinGen TOPMed
CA367028070 rs1194433367	561	K>Q		No	ClinGen gnomAD
CA367028058 rs1288049902 CA367028059	562	Q>H		No	ClinGen TOPMed gnomAD
CA155298658 rs868111947	562	Q>K		No	ClinGen Ensembl
CA367028061 rs1210387587	562	Q>R		No	ClinGen TOPMed
rs892410115 CA155298640	563	H>Y		No	ClinGen TOPMed
CA4188180 rs747817963	564	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA367028016 rs1229698689	568	A>G		No	ClinGen gnomAD
rs534587450 CA155298618	568	A>T		No	ClinGen 1000Genomes
CA367028010 rs1381575858	569	L>P		No	ClinGen TOPMed
CA367028012 rs1348477438	569	L>V		No	ClinGen gnomAD
CA4188177 rs778350619	573	P>A		No	ClinGen ExAC TOPMed gnomAD
CA367027981 rs1401499408	574	P>A		No	ClinGen TOPMed gnomAD
CA367027966 rs1342994739	576	S>P		No	ClinGen gnomAD
rs141308145 CA4188175	578	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4188173 rs756004531	578	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM452870 rs141308145 CA4188174	578	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with O00425

5 regional properties for O00425

Type	Name	Position	InterPro Accession
domain	TolB, N-terminal	24 - 121	IPR007195
repeat	WD40-like beta propeller	199 - 223	IPR011659-1
repeat	WD40-like beta propeller	237 - 272	IPR011659-2
repeat	WD40-like beta propeller	281 - 315	IPR011659-3
repeat	WD40-like beta propeller	369 - 396	IPR011659-4

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, P-body Cytoplasm, Stress granule	Found in lamellipodia of the leading edge, in the perinuclear region, and beneath the plasma membrane The subcytoplasmic localization is cell specific and regulated by cell contact and growth Localized at the connecting piece and the tail of the spermatozoa Colocalized with CD44 mRNA in RNP granules In response to cellular stress, such as oxidative stress, recruited to stress granules
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
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.
P-body	A focus in the cytoplasm where mRNAs may become inactivated by decapping or some other mechanism. Protein and RNA localized to these foci are involved in mRNA degradation, nonsense-mediated mRNA decay (NMD), translational repression, and RNA-mediated gene silencing.

6 GO annotations of molecular function

Name	Definition
mRNA 3'-UTR binding	Binding to a 3' untranslated region of an mRNA molecule.
mRNA 5'-UTR binding	Binding to an mRNA molecule at its 5' untranslated region.
mRNA binding	Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns.
N6-methyladenosine-containing RNA binding	Binding to an RNA molecule modified by N6-methyladenosine (m6A), a modification present at internal sites of mRNAs and some non-coding RNAs.
RNA binding	Binding to an RNA molecule or a portion thereof.
translation regulator activity	Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome.

9 GO annotations of biological process

Name	Definition
anatomical structure morphogenesis	The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form.
CRD-mediated mRNA stabilization	An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD).
mRNA transport	The directed movement of mRNA, messenger ribonucleic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of RNA metabolic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA.
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O42254	IGF2BP1	Insulin-like growth factor 2 mRNA-binding protein 1	Gallus gallus (Chicken)	PR
Q5ZLP8	IGF2BP3	Insulin-like growth factor 2 mRNA-binding protein 3	Gallus gallus (Chicken)	PR
Q9NZI8	IGF2BP1	Insulin-like growth factor 2 mRNA-binding protein 1	Homo sapiens (Human)	PR
Q9Y6M1	IGF2BP2	Insulin-like growth factor 2 mRNA-binding protein 2	Homo sapiens (Human)	PR
Q96I24	FUBP3	Far upstream element-binding protein 3	Homo sapiens (Human)	PR
Q15365	PCBP1	Poly(rC)-binding protein 1	Homo sapiens (Human)	PR
O88477	Igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Mus musculus (Mouse)	PR
Q5SF07	Igf2bp2	Insulin-like growth factor 2 mRNA-binding protein 2	Mus musculus (Mouse)	PR
Q9CPN8	Igf2bp3	Insulin-like growth factor 2 mRNA-binding protein 3	Mus musculus (Mouse)	PR
Q8CGX0	Igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Rattus norvegicus (Rat)	PR
Q08CK7	igf2bp1	Insulin-like growth factor 2 mRNA-binding protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MNKLYIGNLS	ENAAPSDLES	IFKDAKIPVS	GPFLVKTGYA	FVDCPDESWA	LKAIEALSGK
70	80	90	100	110	120
IELHGKPIEV	EHSVPKRQRI	RKLQIRNIPP	HLQWEVLDSL	LVQYGVVESC	EQVNTDSETA
130	140	150	160	170	180
VVNVTYSSKD	QARQALDKLN	GFQLENFTLK	VAYIPDEMAA	QQNPLQQPRG	RRGLGQRGSS
190	200	210	220	230	240
RQGSPGSVSK	QKPCDLPLRL	LVPTQFVGAI	IGKEGATIRN	ITKQTQSKID	VHRKENAGAA
250	260	270	280	290	300
EKSITILSTP	EGTSAACKSI	LEIMHKEAQD	IKFTEEIPLK	ILAHNNFVGR	LIGKEGRNLK
310	320	330	340	350	360
KIEQDTDTKI	TISPLQELTL	YNPERTITVK	GNVETCAKAE	EEIMKKIRES	YENDIASMNL
370	380	390	400	410	420
QAHLIPGLNL	NALGLFPPTS	GMPPPTSGPP	SAMTPPYPQF	EQSETETVHL	FIPALSVGAI
430	440	450	460	470	480
IGKQGQHIKQ	LSRFAGASIK	IAPAEAPDAK	VRMVIITGPP	EAQFKAQGRI	YGKIKEENFV
490	500	510	520	530	540
SPKEEVKLEA	HIRVPSFAAG	RVIGKGGKTV	NELQNLSSAE	VVVPRDQTPD	ENDQVVVKIT
550	560	570
GHFYACQVAQ	RKIQEILTQV	KQHQQQKALQ	SGPPQSRRK