AiPD: Autoinhibited Protein Database

Q86U44

Gene name	METTL3
Protein name	N6-adenosine-methyltransferase catalytic subunit
Names	Methyltransferase-like protein 3, hMETTL3, N6-adenosine-methyltransferase 70 kDa subunit, MT-A70
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56339
EC number	2.1.1.348: Methyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

4-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

4-93 (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

65 structures for Q86U44

Entry ID	Method	Resolution	Chain	Position	Source
5IL0	X-ray	188 A	A	369-580	PDB
5IL1	X-ray	171 A	A	369-580	PDB
5IL2	X-ray	161 A	A	369-580	PDB
5K7M	X-ray	165 A	A	357-580	PDB
5K7U	X-ray	170 A	A	357-580	PDB
5K7W	X-ray	165 A	A	357-580	PDB
5L6D	X-ray	185 A	A	354-580	PDB
5L6E	X-ray	190 A	A	354-580	PDB
5TEY	X-ray	180 A	A	1-580	PDB
5YZ9	Other	-	A	259-357	PDB
6TTP	X-ray	200 A	A	1-580	PDB
6TTT	X-ray	230 A	A	1-580	PDB
6TTV	X-ray	214 A	A	1-580	PDB
6TTW	X-ray	220 A	A	1-580	PDB
6TTX	X-ray	200 A	A	1-580	PDB
6TU1	X-ray	231 A	A	1-580	PDB
6Y4G	X-ray	190 A	A	1-580	PDB
7ACD	X-ray	250 A	A	354-580	PDB
7NHG	X-ray	250 A	A	354-580	PDB
7NHH	X-ray	210 A	A	354-580	PDB
7NHI	X-ray	185 A	A	354-580	PDB
7NHJ	X-ray	216 A	A	354-580	PDB
7NHV	X-ray	191 A	A	354-580	PDB
7NI7	X-ray	250 A	A	354-580	PDB
7NI8	X-ray	220 A	A	354-580	PDB
7NI9	X-ray	220 A	A	354-580	PDB
7NIA	X-ray	230 A	A	354-580	PDB
7NID	X-ray	230 A	A	354-580	PDB
7O08	X-ray	200 A	A	354-580	PDB
7O09	X-ray	180 A	A	354-580	PDB
7O0L	X-ray	190 A	A	354-580	PDB
7O0M	X-ray	239 A	A	354-580	PDB
7O0P	X-ray	270 A	A	354-580	PDB
7O0Q	X-ray	249 A	A	354-580	PDB
7O0R	X-ray	230 A	A	354-580	PDB
7O27	X-ray	240 A	A	354-580	PDB
7O28	X-ray	247 A	A	354-580	PDB
7O29	X-ray	275 A	A	354-580	PDB
7O2E	X-ray	250 A	A	354-580	PDB
7O2F	X-ray	210 A	A	354-580	PDB
7O2H	X-ray	250 A	A	354-580	PDB
7O2I	X-ray	300 A	A	353-580	PDB
7O2X	X-ray	280 A	A	354-580	PDB
7OED	X-ray	200 A	A	354-580	PDB
7OEE	X-ray	270 A	A	354-580	PDB
7OEF	X-ray	203 A	A	354-580	PDB
7OEG	X-ray	279 A	A	354-580	PDB
7OEH	X-ray	201 A	A	354-580	PDB
7OEI	X-ray	248 A	A	354-580	PDB
7OEJ	X-ray	230 A	A	354-580	PDB
7OEK	X-ray	190 A	A	354-580	PDB
7OEL	X-ray	186 A	A	354-580	PDB
7OEM	X-ray	220 A	A	354-580	PDB
7OQL	X-ray	250 A	A	354-580	PDB
7OQO	X-ray	335 A	A	354-580	PDB
7OQP	X-ray	200 A	A	354-580	PDB
7RX6	X-ray	180 A	A	357-580	PDB
7RX7	X-ray	165 A	A	357-580	PDB
7RX8	X-ray	185 A	A	357-580	PDB
8BN8	X-ray	221 A	AAA	363-580	PDB
8PW8	X-ray	230 A	A	353-580	PDB
8PW9	X-ray	230 A	A	353-580	PDB
8PWA	X-ray	210 A	A	353-580	PDB
8PWB	X-ray	250 A	A	353-580	PDB
AF-Q86U44-F1	Predicted				AlphaFoldDB

311 variants for Q86U44

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1354755271 CA388905514	2	S>L		No	ClinGen gnomAD
CA388905517 rs1443916738	2	S>P		No	ClinGen gnomAD
CA257572689 rs953455396	3	D>E		No	ClinGen TOPMed gnomAD
TCGA novel	4	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7093277 rs757495340	6	S>N		No	ClinGen ExAC gnomAD
TCGA novel	7	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896437307 CA257572667	13	K>M		No	ClinGen Ensembl
CA7093275 rs180882072	17	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388905401 rs1419335903	19	R>Q		No	ClinGen TOPMed
rs1210195522 CA388905392	20	E>D		No	ClinGen gnomAD
TCGA novel	20	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388905365 rs1594448200	25	R>G		No	ClinGen Ensembl
rs1484750159 CA388905356	26	R>Q		No	ClinGen gnomAD
CA7093272 rs753284089	27	K>R		No	ClinGen ExAC gnomAD
rs1349907100 CA388905331	29	D>E		No	ClinGen TOPMed
rs143817102 CA388905328	30	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7093270 rs143817102	30	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768092349 CA7093271	30	S>P		No	ClinGen ExAC gnomAD
rs1373546512 CA388905321	31	G>E		No	ClinGen gnomAD
CA388905316 rs766016498	32	H>L		No	ClinGen ExAC gnomAD
CA388905317 rs766016498	32	H>P		No	ClinGen ExAC gnomAD
CA7093268 rs766016498	32	H>R		No	ClinGen ExAC gnomAD
CA7093245 rs776113693	35	L>V		No	ClinGen ExAC gnomAD
rs758627267 CA7093243	36	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139460746 CA7093244	36	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866586266 CA257566877	40	A>G		No	ClinGen Ensembl
rs201324567 CA7093240	40	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7093241 rs201324567	40	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773620768 CA7093239	41	A>T		No	ClinGen ExAC gnomAD
COSM3690017 CA257566867 rs1031213111	45	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1460224064 CA388905225	45	T>I		No	ClinGen TOPMed gnomAD
rs1460224064 CA388905227	45	T>N		No	ClinGen TOPMed gnomAD
rs1031213111 CA388905228	45	T>P		No	ClinGen gnomAD
CA388905219 rs1219762339	46	F>C		No	ClinGen TOPMed
CA7093237 rs748308611	46	F>L		No	ClinGen ExAC TOPMed gnomAD
rs201090349 CA7093236	47	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7093235 rs372393450	47	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA388905201 rs1594442088	49	D>V		No	ClinGen Ensembl
CA388905196 rs1594442080	50	S>G		No	ClinGen Ensembl
CA7093234 rs199873317	54	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388905168 rs199873317	54	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1194854204 CA388905166	55	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA257566853 rs994785110	55	A>V		No	ClinGen TOPMed
CA388905156 rs1337107556	56	P>L		No	ClinGen gnomAD
CA7093232 rs560864627	57	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1594442033 CA388905155	57	T>P		No	ClinGen Ensembl
CA257566848 rs560864627	57	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs937637313 CA257566833	59	G>S		No	ClinGen TOPMed
rs764934314 CA7093230	61	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350647115 CA388905089	68	A>P		No	ClinGen TOPMed
TCGA novel	68	A>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753427280 CA7093228	70	P>R		No	ClinGen ExAC gnomAD
CA7093227 rs763660074	71	E>D		No	ClinGen ExAC gnomAD
rs760060629 CA7093226	73	A>P		No	ClinGen ExAC TOPMed gnomAD
CA7093225 rs544263777	74	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	75	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767338483 CA7093223	77	E>Q		No	ClinGen ExAC gnomAD
CA7093221 rs759446423	79	E>G		No	ClinGen ExAC gnomAD
TCGA novel	79	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388905019 rs1370779260	79	E>Q		No	ClinGen gnomAD
rs1455570975 CA388905006	80	K>N		No	ClinGen gnomAD
rs774287345 CA7093220	84	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1248792816 CA388904983	84	H>Y		No	ClinGen Ensembl
rs752748887 CA257566815	85	H>Y		No	ClinGen Ensembl
TCGA novel	88	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770203611 CA257566806	89	L>M		No	ClinGen ExAC TOPMed
TCGA novel	90	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252254898 CA388904940	91	L>V		No	ClinGen gnomAD
CA7093216 rs768814292	95	T>I		No	ClinGen ExAC gnomAD
CA7093215 rs747013878	96	D>H		No	ClinGen ExAC gnomAD
rs780650101 CA7093214	96	D>V		No	ClinGen ExAC gnomAD
rs1230319336 CA388904899	97	A>V		No	ClinGen TOPMed
CA388904890 rs1358224506	99	S>A		No	ClinGen TOPMed
rs1003797027 CA257566764	99	S>F		No	ClinGen TOPMed
rs1390142311 CA388904879	101	C>R		No	ClinGen TOPMed gnomAD
rs146162271 CA257566753	106	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA7093195 rs775417471	108	D>G		No	ClinGen ExAC gnomAD
rs772080898 CA7093194	109	A>P		No	ClinGen ExAC gnomAD
rs1386850392 CA388904814	109	A>V		No	ClinGen gnomAD
COSM182887 CA388904784 rs1415229310	114	D>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs779348179 CA7093192	114	D>N		No	ClinGen ExAC TOPMed gnomAD
rs779348179 CA388904786	114	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs777524467 CA7093190	115	G>R		No	ClinGen ExAC gnomAD
CA7093189 rs777524467	115	G>W		No	ClinGen ExAC gnomAD
CA388904776 rs1281554457	116	V>I		No	ClinGen TOPMed
rs1193075329 CA388904769	117	E>K		No	ClinGen gnomAD
CA388904748 rs1594441701	120	L>M		No	ClinGen Ensembl
TCGA novel	121	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7093187 rs577386917	123	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7093186 rs780584310	124	A>T		No	ClinGen ExAC gnomAD
rs995046733 CA257566613	127	E>Q		No	ClinGen TOPMed gnomAD
CA388904657 rs1230279458	133	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs911302939 CA257566595	133	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1428542995 CA388904630	137	Q>H		No	ClinGen TOPMed gnomAD
CA388904621 rs1382850469	139	D>N		No	ClinGen TOPMed
rs1328134879 CA388904610	140	A>V		No	ClinGen gnomAD
rs762891415 CA7093182	141	H>R		No	ClinGen ExAC gnomAD
rs368592948 CA257566579	146	T>I		No	ClinGen ESP TOPMed gnomAD
CA7093181 rs761002351	147	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA388904547 rs1406070558	150	H>P		No	ClinGen TOPMed
rs554107761 CA7093180	153	L>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	156	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7093179 rs146042078	157	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388904502 rs1377123583	157	M>V		No	ClinGen TOPMed
CA257566522 rs906238397	161	A>T		No	ClinGen TOPMed
CA388904467 rs1293542114	162	E>G		No	ClinGen gnomAD
rs1250463649 CA388904462	163	K>E		No	ClinGen gnomAD
rs1346506679 CA388904453	164	K>E		No	ClinGen TOPMed
rs1189561020 CA388904449	164	K>T		No	ClinGen gnomAD
CA388904435 rs772166596	166	P>L		No	ClinGen ExAC gnomAD
CA7093177 rs772166596	166	P>R		No	ClinGen ExAC gnomAD
rs1046029428 CA257566499	167	G>R		No	ClinGen TOPMed
TCGA novel	170	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257566474 rs868627747	175	G>R		No	ClinGen Ensembl
rs568264214 CA7093174	176	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1272296450 CA388904376	176	Q>R		No	ClinGen gnomAD
rs141389586 CA7093172 COSM1640042	178	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs374521457 CA7093173	178	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7093170 rs747763842	179	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7093169 rs548168244	179	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353569070 CA388904351	181	E>Q		No	ClinGen gnomAD
CA7093168 rs370185944	183	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs751094763 CA7093167 COSM954470	184	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1429152336 CA388904313	186	T>I		No	ClinGen TOPMed
rs1169755185 CA388904312	187	V>L		No	ClinGen gnomAD
CA388904300 rs1454265377	189	A>T		No	ClinGen gnomAD
TCGA novel	191	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257566390 COSM1214948 rs990906526	193	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7093163 rs764945707	194	L>S		No	ClinGen ExAC gnomAD
CA257566367 rs111873639	195	V>A		No	ClinGen Ensembl
CA257566369 rs571614176	195	V>F		No	ClinGen Ensembl
rs761629008 CA7093162	196	S>P		No	ClinGen ExAC gnomAD
rs1202476895 CA388904252	197	G>S		No	ClinGen gnomAD
CA7093161 rs752880081	201	S>A		No	ClinGen ExAC TOPMed gnomAD
CA7093160 rs569011678	201	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1345724945 CA388904218	202	A>V		No	ClinGen gnomAD
rs759649879 CA7093159	203	S>L		No	ClinGen ExAC TOPMed gnomAD
CA257566359 rs11540965	207	K>E		No	ClinGen Ensembl
rs1282122204 CA388904187	207	K>N		No	ClinGen TOPMed
rs763386698 CA7093156	209	P>L		No	ClinGen ExAC gnomAD
CA7093157 rs766932432	209	P>T		No	ClinGen ExAC gnomAD
rs1311814215 CA388904173	210	A>T		No	ClinGen gnomAD
CA7093155 CA388904161 rs773705837	211	K>N		No	ClinGen ExAC gnomAD
rs1321270869 CA388904163	211	K>R		No	ClinGen TOPMed
TCGA novel	212	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770086372 CA7093154	215	K>R		No	ClinGen ExAC gnomAD
CA7093153 rs35128103	216	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	218	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258673342 CA388904082	223	L>P		No	ClinGen TOPMed
rs1003333896 CA257566332	226	E>D		No	ClinGen Ensembl
CA7093151 rs768394711	227	S>N		No	ClinGen ExAC gnomAD
CA388904039 rs1252623153	230	N>D		No	ClinGen gnomAD
rs746573305 CA7093149	230	N>K		No	ClinGen ExAC gnomAD
CA388904001 rs1226201456	235	K>R		No	ClinGen TOPMed gnomAD
rs1229846274 CA388903969	239	S>N		No	ClinGen gnomAD
TCGA novel	242	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs898092369 CA257565289	244	Q>*		No	ClinGen Ensembl
CA7093128 rs745357704	244	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1259596899 CA388903897	248	E>K		No	ClinGen gnomAD
rs1277063819 CA388903888	249	L>V		No	ClinGen Ensembl
CA388903868 rs1182592073	252	T>A		No	ClinGen TOPMed
CA388903857 rs1594440225	254	T>P		No	ClinGen Ensembl
rs757212904 CA7093126	255	A>T		No	ClinGen ExAC
CA388903814 rs1252195708	258	Q>*		No	ClinGen gnomAD
rs749142281 CA7093125	258	Q>R		No	ClinGen ExAC gnomAD
rs777561933 CA7093124	260	I>T		No	ClinGen ExAC gnomAD
rs751815359 CA7093122	261	V>A		No	ClinGen ExAC gnomAD
CA7093121 rs766575495	265	R>C		No	ClinGen ExAC gnomAD
CA7093120 rs528078976	265	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7093119 rs750486834	267	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765732713 CA7093118	267	R>Q		No	ClinGen ExAC gnomAD
rs1393159305 CA388903699	269	R>W		No	ClinGen gnomAD
rs1461572646 CA388903674	271	Q>H		No	ClinGen TOPMed gnomAD
CA7093112 rs761072238	278	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1170387466 CA388903592	278	Y>D		No	ClinGen TOPMed gnomAD
rs1170387466 CA388903593	278	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	279	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196490803 CA388903548	282	E>Q		No	ClinGen gnomAD
CA257565188 rs149573823	285	M>T		No	ClinGen 1000Genomes
rs1452916362 CA388903486	286	K>E		No	ClinGen TOPMed gnomAD
rs1267640916 CA388903474	287	A>T		No	ClinGen gnomAD
TCGA novel	287	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388903462 rs1194701276	288	S>G		No	ClinGen gnomAD
CA7093110 rs540542271	288	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs530353198 CA7093108	288	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7093106 rs749232135	291	D>A		No	ClinGen ExAC TOPMed gnomAD
rs771400674 CA257565162	292	R>*		No	ClinGen TOPMed gnomAD
CA7093105 rs141435966	292	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA388903400 rs1381039900	293	P>S		No	ClinGen Ensembl
rs1302207202 CA388903379	295	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs769603832 CA7093104	295	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1310005715 CA388903322	300	R>K		No	ClinGen gnomAD
CA7093091 rs530317948	301	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1445123497 CA388903268	301	R>Q		No	ClinGen TOPMed
rs1280808125 CA388903234	304	N>S		No	ClinGen TOPMed
rs146573612 COSM109742 CA257564682	315	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	319	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444701293 CA388903018	323	M>I		No	ClinGen TOPMed gnomAD
CA388902917 rs1208511484	332	E>*		No	ClinGen TOPMed gnomAD
CA388902902 rs1594439527	333	I>T		No	ClinGen Ensembl
CA388902884 rs1229287194	335	A>P		No	ClinGen gnomAD
rs748004925 CA7093085	335	A>V		No	ClinGen ExAC gnomAD
CA257564668 rs781030168	336	C>S		No	ClinGen ExAC TOPMed gnomAD
CA7093084 rs781030168	336	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7093083 rs145593657	337	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257564667 rs372328343	337	M>V		No	ClinGen TOPMed
rs778953417 CA388902814	340	E>D		No	ClinGen ExAC TOPMed gnomAD
rs551106028 CA7093080	342	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7093079 rs753934816	343	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1367891945 CA388902741	346	D>E		No	ClinGen gnomAD
CA257564630 rs1009968682	347	H>Y		No	ClinGen Ensembl
CA7093078 rs369145498	348	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA388902718 rs937245868	349	P>A		No	ClinGen gnomAD
CA257564614 rs937245868	349	P>S		No	ClinGen gnomAD
rs753086069 CA7093076	350	S>I		No	ClinGen ExAC gnomAD
CA257564606 rs150090922	352	E>K		No	ClinGen ESP TOPMed gnomAD
CA257564602 rs767779945	353	L>V		No	ClinGen Ensembl
rs767931381 CA7093075	356	T>R		No	ClinGen ExAC gnomAD
rs749333577 CA257564583	357	Q>E		No	ClinGen TOPMed gnomAD
rs371811912 CA7093074	357	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs765997428 CA7093072	358	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7093069 rs182862823 CA388902591	360	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257564570 rs1006691006	361	G>A		No	ClinGen TOPMed gnomAD
rs765219232 CA7093068	363	S>F		No	ClinGen ExAC gnomAD
CA388902531 rs1447086421	365	A>V		No	ClinGen TOPMed
rs202016326 CA7093065	367	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746758372 CA7093064	367	R>Q		No	ClinGen ExAC gnomAD
CA257564513 rs1051035801	369	F>V		No	ClinGen TOPMed
TCGA novel	371	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200262161 CA388902473	371	P>S		No	ClinGen TOPMed
CA7093062 rs771270590	372	Q>P		No	ClinGen ExAC gnomAD
rs1428313347 CA388902399	373	W>S		No	ClinGen TOPMed gnomAD
rs769941389 CA7093034	376	C>F		No	ClinGen ExAC gnomAD
rs769941389 CA7093035	376	C>Y		No	ClinGen ExAC gnomAD
CA7093033 rs748154817	378	I>T		No	ClinGen ExAC gnomAD
CA7093032 rs771889155	379	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7093031 rs557967128	379	R>H		No	ClinGen 1000Genomes ExAC
rs771889155 CA257564260	379	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7093028 rs758697624	382	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7093027 rs531203537	383	V>I		No	ClinGen ExAC TOPMed gnomAD
rs531203537 CA388902281	383	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778511708 CA7093026	389	F>C		No	ClinGen ExAC gnomAD
CA388902204 rs778511708	389	F>S		No	ClinGen ExAC gnomAD
rs756828306 CA7093025	391	V>I		No	ClinGen ExAC gnomAD
TCGA novel CA388902099 rs1338817162	398	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
TCGA novel	402	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_076859	406	Y>C	found in patients with large intestine cancer; unknown pathological significance; does not affect interaction with METTL14; abolished RNA methyltransferase activity in vitro [UniProt]	No	UniProt
TCGA novel	407	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	413	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388901151 rs1336492472 COSM182885	415	R>C	large_intestine Variant assessed as Somatic; impact. stomach [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7093021 rs150964173	415	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA388901139 rs767449920	416	R>K		No	ClinGen ExAC gnomAD
CA7093020 rs767449920	416	R>T		No	ClinGen ExAC gnomAD
CA7093016 rs200084133	421	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA388901084 rs200084133	421	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299219241 CA388901076	422	L>I		No	ClinGen gnomAD
rs778819712 CA257564108	423	Q>*		No	ClinGen Ensembl
rs1019876083 CA257564101	426	G>S		No	ClinGen Ensembl
rs988889819 CA257564100	427	F>V		No	ClinGen Ensembl
CA388900982 rs1466027886	429	F>L		No	ClinGen gnomAD
CA388900975 rs1431682966	430	L>F		No	ClinGen gnomAD
CA7093015 rs776563361	435	R>K		No	ClinGen ExAC gnomAD
rs771259965 CA7092987	436	A>V		No	ClinGen ExAC gnomAD
CA7092983 rs755736039	443	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA257563369 rs961531932	444	L>Q		No	ClinGen TOPMed
CA388900721 rs1315400756	445	N>S		No	ClinGen gnomAD
rs1295952198 CA388900694	447	W>C		No	ClinGen TOPMed gnomAD
rs1437467258 CA388900689	448	G>E		No	ClinGen gnomAD
rs779995154 CA7092957	451	R>Q		No	ClinGen ExAC gnomAD
rs1423948784 CA388900626	452	V>I		No	ClinGen TOPMed
rs774309591 CA257563150	456	I>T		No	ClinGen Ensembl
rs149041981 CA7092953	462	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA7092951 rs752850121	465	R>C		No	ClinGen ExAC gnomAD
rs767615017 CA7092950	466	I>L		No	ClinGen ExAC gnomAD
TCGA novel	468	R>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs946965341 CA257563094	475	W>*		No	ClinGen TOPMed
rs763295671 CA7092946	477	N>K		No	ClinGen ExAC
TCGA novel	485	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7092934 rs757005746	489	G>E		No	ClinGen ExAC gnomAD
rs1290297119 CA388900020	490	N>D		No	ClinGen gnomAD
rs1566490267 CA388900011	490	N>K		No	ClinGen Ensembl
CA388899892 rs1331923762	500	C>S		No	ClinGen TOPMed gnomAD
CA7092930 rs751656594	506	E>D		No	ClinGen ExAC
CA257562831 rs1018924508	513	K>N		No	ClinGen gnomAD
rs765821188 CA7092906	521	I>T		No	ClinGen ExAC gnomAD
rs201920016 CA257562808	526	P>S		No	ClinGen 1000Genomes
rs1228535300 CA388899444 COSM1607489	529	R>C	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	529	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1273627414 CA388899376	531	I>M		No	ClinGen gnomAD
TCGA novel	533	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7092902 rs760376268	536	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1435325658 CA388899244	542	P>L		No	ClinGen gnomAD
CA7092884 rs754326391	548	G>E		No	ClinGen ExAC
CA7092883 rs764547089	553	G>R		No	ClinGen ExAC gnomAD
CA388898503 rs1251192165	555	H>Y		No	ClinGen gnomAD
rs759112453 CA7092879	556	L>P		No	ClinGen ExAC gnomAD
rs144555583 CA7092878	562	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs549627481 CA7092874	564	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7092875 rs200568556	564	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257562231 rs17854735	568	R>K		No	ClinGen gnomAD
CA388898322 rs17854735	568	R>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7092873 rs747876082	570	P>A		No	ClinGen ExAC gnomAD
CA257562221 rs1802004	570	P>Q		No	ClinGen Ensembl
rs775823929 CA7092872	572	G>S		No	ClinGen ExAC gnomAD
rs956059848 CA257562188	573	I>V		No	ClinGen Ensembl
TCGA novel	575	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257562180 rs977389383	577	P>H		No	ClinGen TOPMed
rs746026443 CA7092870	577	P>S		No	ClinGen ExAC gnomAD
rs1349275390 CA388898193	580	L>*		No	ClinGen TOPMed
rs371181847 CA7092869	581	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD

No associated diseases with Q86U44

No regional properties for Q86U44

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q86U44

Functions

		Description
EC Number	2.1.1.348	Methyltransferases
Subcellular Localization	Nucleus Nucleus speckle Cytoplasm	Colocalizes with speckles in interphase nuclei, suggesting that it may be associated with nuclear pre-mRNA splicing components (PubMed:9409616) In response to ultraviolet irradiation, colocalizes to DNA damage sites however, it probably does not bind DNA but localizes in the vicinity of DNA damage sites (PubMed:28297716)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
RNA N6-methyladenosine methyltransferase complex	A RNA methyltransferase complex that catalyzes the post-transcriptional methylation of adenosine to form N6-methyladenosine (m6A). In budding yeast, the MIS complex consists of Mum2p, Ime4p and Slz1p. In vertebrates, the complex consists of METTL3, METTL14 and associated components WTAP, ZC3H13, VIRMA, CBLL1/HAKAI and in some cases of RBM15 (RBM15 or RBM15B).

7 GO annotations of molecular function

Name	Definition
methyltransferase activity	Catalysis of the transfer of a methyl group to an acceptor molecule.
mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + m(7)G(5')pppAm = S-adenosyl-L-homocysteine + m(7)G(5')pppm(6)Am.
mRNA (N6-adenosine)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + RRACH = S-adenosyl-L-homocysteine + RRm6ACH; R is a purine, and H is C, A, or U.
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.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
RNA methyltransferase activity	Catalysis of the transfer of a methyl group from a donor to a nucleoside residue in an RNA molecule.
S-adenosyl-L-methionine binding	Binding to S-adenosyl-L-methionine.

26 GO annotations of biological process

Name	Definition
adenosine to inosine editing	The conversion of an adenosine residue to inosine in an RNA molecule by deamination.
cellular response to DNA damage stimulus	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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to UV	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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
circadian rhythm	Any biological process in an organism that recurs with a regularity of approximately 24 hours.
dosage compensation by inactivation of X chromosome	Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex.
endothelial to hematopoietic transition	The generation of hematopoietic stem cells from hemogenic endothelial cells by a process that includes tight-junction dissolution and loss of cell polarity followed by delamination from the endothelium.
forebrain radial glial cell differentiation	The process in which neuroepithelial cells of the neural tube give rise to radial glial cells, specialized bipotential progenitors cells of the forebrain. Differentiation includes the processes involved in commitment of a cell to a specific fate.
gliogenesis	The process that results in the generation of glial cells. This includes the production of glial progenitors and their differentiation into mature glia.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
mRNA catabolic process	The chemical reactions and pathways resulting in the breakdown of mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes.
mRNA destabilization	Any process that decreases the stability of an mRNA molecule, making it more vulnerable to degradative processes. Messenger RNA is the intermediate molecule between DNA and protein. It includes UTR and coding sequences. It does not contain introns.
mRNA methylation	The posttranscriptional addition of methyl groups to specific residues in an mRNA molecule.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
mRNA splicing, via spliceosome	The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced.
negative regulation of Notch signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Notch signaling pathway.
negative regulation of type I interferon-mediated signaling pathway	Any process that decreases the rate, frequency or extent of a type I interferon-mediated signaling pathway.
oogenesis	The complete process of formation and maturation of an ovum or female gamete from a primordial female germ cell. Examples of this process are found in Mus musculus and Drosophila melanogaster.
positive regulation of cap-independent translational initiation	Any process that activates or increases the frequency, rate or extent of cap-independent translational initiation.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
primary miRNA processing	A process involved in the conversion of a primary microRNA transcript into a pre-microRNA molecule.
regulation of hematopoietic stem cell differentiation	Any process that modulates the frequency, rate or extent of hematopoietic stem cell differentiation.
regulation of meiotic cell cycle	Any process that modulates the rate or extent of progression through the meiotic cell cycle.
regulation of T cell differentiation	Any process that modulates the frequency, rate or extent of T cell differentiation.
RNA methylation	Posttranscriptional addition of a methyl group to either a nucleotide or 2'-O ribose in a polyribonucleotide. Usually uses S-adenosylmethionine as a cofactor.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
stem cell population maintenance	The process by which an organism or tissue maintains a population of stem cells of a single type. This can be achieved by a number of mechanisms: stem cell asymmetric division maintains stem cell numbers; stem cell symmetric division increases them; maintenance of a stem cell niche maintains the conditions for commitment to the stem cell fate for some types of stem cell; stem cells may arise de novo from other cell types.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9VCE6	Mettl3	N6-adenosine-methyltransferase MT-A70-like protein	Drosophila melanogaster (Fruit fly)	PR
Q8C3P7	Mettl3	N6-adenosine-methyltransferase subunit METTL3	Mus musculus (Mouse)	PR
O82486	MTA	N6-adenosine-methyltransferase MT-A70-like	Arabidopsis thaliana (Mouse-ear cress)	PR
F1R777	mettl3	N6-adenosine-methyltransferase subunit METTL3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSDTWSSIQA	HKKQLDSLRE	RLQRRRKQDS	GHLDLRNPEA	ALSPTFRSDS	PVPTAPTSGG
70	80	90	100	110	120
PKPSTASAVP	ELATDPELEK	KLLHHLSDLA	LTLPTDAVSI	CLAISTPDAP	ATQDGVESLL
130	140	150	160	170	180
QKFAAQELIE	VKRGLLQDDA	HPTLVTYADH	SKLSAMMGAV	AEKKGPGEVA	GTVTGQKRRA
190	200	210	220	230	240
EQDSTTVAAF	ASSLVSGLNS	SASEPAKEPA	KKSRKHAASD	VDLEIESLLN	QQSTKEQQSK
250	260	270	280	290	300
KVSQEILELL	NTTTAKEQSI	VEKFRSRGRA	QVQEFCDYGT	KEECMKASDA	DRPCRKLHFR
310	320	330	340	350	360
RIINKHTDES	LGDCSFLNTC	FHMDTCKYVH	YEIDACMDSE	APGSKDHTPS	QELALTQSVG
370	380	390	400	410	420
GDSSADRLFP	PQWICCDIRY	LDVSILGKFA	VVMADPPWDI	HMELPYGTLT	DDEMRRLNIP
430	440	450	460	470	480
VLQDDGFLFL	WVTGRAMELG	RECLNLWGYE	RVDEIIWVKT	NQLQRIIRTG	RTGHWLNHGK
490	500	510	520	530	540
EHCLVGVKGN	PQGFNQGLDC	DVIVAEVRST	SHKPDEIYGM	IERLSPGTRK	IELFGRPHNV
550	560	570
QPNWITLGNQ	LDGIHLLDPD	VVARFKQRYP	DGIISKPKNL