AiPD: Autoinhibited Protein Database

Q9H8H3

Gene name	METTL7A (PRO0066, UNQ1902/PRO4348)
Protein name	Putative methyltransferase-like protein 7A
Names	Protein AAM-B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25840
EC number	2.1.1.9: Methyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

23-93 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

23-93 (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

1 structures for Q9H8H3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H8H3-F1	Predicted				AlphaFoldDB

223 variants for Q9H8H3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA384843970 rs1260440051	4	T>A		No	ClinGen gnomAD
rs1433359033 CA384843972	4	T>N		No	ClinGen gnomAD
CA384843993 rs1211083968	7	I>N		No	ClinGen TOPMed
CA6566022 rs200873137	9	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1273293008 CA384844011	10	L>P		No	ClinGen TOPMed
CA384844023 rs1375614231	12	I>T		No	ClinGen gnomAD
CA236241744 rs765562014	16	T>S		No	ClinGen TOPMed
CA6566023 rs773603343	17	F>L		No	ClinGen ExAC gnomAD
TCGA novel	18	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288300133 CA384844066	19	L>S		No	ClinGen gnomAD
CA6566024 rs760984011	19	L>V		No	ClinGen ExAC gnomAD
CA384844072 rs1440685265	20	Y>D		No	ClinGen TOPMed
rs560694448 CA236241780	22	L>P		No	ClinGen gnomAD
CA236241816 rs755423896	23	N>K		No	ClinGen TOPMed gnomAD
CA6566026 rs776325205	24	F>C		No	ClinGen ExAC gnomAD
CA6566027 rs150034554	25	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1312005561 CA384844110	26	G>V		No	ClinGen gnomAD
CA384844123 rs1259588100	27	L>F		No	ClinGen gnomAD
rs752590841 CA6566029	28	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1264809107 CA384844170	30	W>C		No	ClinGen gnomAD
CA6566030 rs567380065	30	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA236241837 rs1019060883	32	C>F		No	ClinGen TOPMed
rs763990978 CA6566031	32	C>R		No	ClinGen ExAC gnomAD
rs780261993 CA6566034	35	W>C		No	ClinGen ExAC
CA384844238 rs1166805719	35	W>R		No	ClinGen TOPMed
CA6566035 rs754114056 COSM3671097	36	F>L	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA236241892 rs993400233	39	F>Y		No	ClinGen TOPMed
rs779156760 CA6566037	41	V>M		No	ClinGen ExAC gnomAD
CA236241903 rs1048255181	42	R>K		No	ClinGen Ensembl
rs199706639 CA236241917	43	F>S		No	ClinGen 1000Genomes
rs886924612 CA236241958	47	Y>C		No	ClinGen Ensembl
CA6566039 rs147703598	47	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs747387825 CA6566041 CA384844478	50	Q>H		No	ClinGen ExAC gnomAD
CA384844528 rs1333720310	52	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	53	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384844566 rs1375183976	54	K>R		No	ClinGen gnomAD
CA384844597 rs1391215567	55	K>N		No	ClinGen gnomAD
CA384844605 rs771214724	56	R>P		No	ClinGen ExAC gnomAD
CA6566042 rs771214724	56	R>Q		No	ClinGen ExAC gnomAD
rs1314037794 CA384844602	56	R>W		No	ClinGen TOPMed gnomAD
CA384844612 rs1246341889	57	E>K		No	ClinGen TOPMed gnomAD
CA384844646 rs1263167251	58	L>F		No	ClinGen gnomAD
rs373503220 CA6566043	59	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1276973972 CA384844781	63	Q>K		No	ClinGen TOPMed
rs759218585 CA6566044	63	Q>P		No	ClinGen ExAC gnomAD
rs1234530676 CA384844816	64	E>G		No	ClinGen TOPMed
CA384844801 rs1239733714	64	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	64	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769249159 CA6566045	65	F>I		No	ClinGen ExAC gnomAD
CA236242002 rs868550970 COSM548690	66	A>V	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1247268233 CA384844889	67	G>V		No	ClinGen Ensembl
CA6566046 rs774962256	68	P>A		No	ClinGen ExAC gnomAD
CA6566047 rs142438796	68	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295520060 CA384844932	70	G>E		No	ClinGen Ensembl
rs764090365 CA6566048	70	G>R		No	ClinGen ExAC gnomAD
CA6566049 rs774166987	71	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA384844952 rs1312449165	72	L>F		No	ClinGen TOPMed
CA6566050 rs201848941	72	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6566051 rs767447949	73	S>C		No	ClinGen ExAC TOPMed gnomAD
rs755228900 CA6566053	76	E>G		No	ClinGen ExAC gnomAD
rs1290848591 CA384845015	77	V>G		No	ClinGen gnomAD
CA6566054 rs765595664	77	V>L		No	ClinGen ExAC gnomAD
rs752818225 CA6566055	78	G>D		No	ClinGen ExAC TOPMed gnomAD
CA384845020 rs1478313609	78	G>S		No	ClinGen TOPMed
CA384845044 rs1179362868	79	C>S		No	ClinGen TOPMed
rs758464338 CA6566056	80	G>S		No	ClinGen ExAC gnomAD
rs201001414 CA384845105	81	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6566057 rs201001414	81	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs201001414 CA384845110	81	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA384845124 rs1305471263	82	G>E		No	ClinGen gnomAD
TCGA novel	83	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747476280 CA6566058	84	N>I		No	ClinGen ExAC gnomAD
rs1484162180 CA384845164	85	F>S		No	ClinGen gnomAD
CA384845201 rs1592235739	86	K>N		No	ClinGen Ensembl
CA384845191 rs1208902947	86	K>R		No	ClinGen TOPMed
rs1565946603 CA384845241	89	P>T		No	ClinGen Ensembl
CA6566060 rs781559743	90	P>S		No	ClinGen ExAC gnomAD
rs1196009075 CA384845297	91	G>R		No	ClinGen gnomAD
rs1421752055 CA384845324	92	C>F		No	ClinGen gnomAD
rs1421752055 CA384845322	92	C>Y		No	ClinGen gnomAD
TCGA novel	94	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768094749 CA236242096	95	T>I		No	ClinGen Ensembl
rs1464946711 CA384845389	97	I>T		No	ClinGen gnomAD
CA6566064 rs748820174	99	P>A		No	ClinGen ExAC gnomAD
CA6566065 rs202160139	99	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs536652546 CA6566066	100	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287055056 CA384845424	101	P>A		No	ClinGen TOPMed
CA236242133 rs146501708	101	P>H		No	ClinGen ESP
rs1287055056 CA384845426	101	P>S		No	ClinGen TOPMed
CA384845458 rs1351136233	104	E>K		No	ClinGen TOPMed
CA236242139 rs546671459	105	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384845477 rs1446075393	105	K>R		No	ClinGen TOPMed
CA6566068 rs767611502	107	L>F		No	ClinGen ExAC gnomAD
CA6566070 rs567192395	109	K>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208522029 CA384845515	109	K>Q		No	ClinGen gnomAD
rs946005363 CA236242164	110	S>G		No	ClinGen TOPMed gnomAD
CA236242169 rs112936570	110	S>R		No	ClinGen Ensembl
rs758436348 CA6566072	113	E>D		No	ClinGen ExAC gnomAD
rs538947246 CA6566073	115	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA6566074 rs758438723	115	R>Q		No	ClinGen ExAC gnomAD
CA6566076 rs752056811	117	L>R		No	ClinGen ExAC gnomAD
rs200459598 CA236242228	119	F>S		No	ClinGen gnomAD
CA6566078 rs781697198	120	E>G		No	ClinGen ExAC gnomAD
CA6566077 rs757743447	120	E>Q		No	ClinGen ExAC gnomAD
CA6566080 rs139055651	121	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs139055651 CA236242241	121	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6566082 rs748921353	122	F>L		No	ClinGen ExAC gnomAD
rs1266385514 CA384845640	122	F>S		No	ClinGen gnomAD
CA6566083 rs768160074	124	V>I		No	ClinGen ExAC gnomAD
CA384845651 rs768160074	124	V>L		No	ClinGen ExAC gnomAD
CA236242284 rs79474607	125	A>G		No	ClinGen Ensembl
CA6566085 rs200748293	127	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384845673 rs1180829166	128	E>*		No	ClinGen TOPMed
rs1238882687 CA384845678	128	E>D		No	ClinGen TOPMed
CA384845675 rs1592235794	128	E>G		No	ClinGen Ensembl
rs1180829166 CA384845672	128	E>Q		No	ClinGen TOPMed
rs772131162 CA6566086	129	N>T		No	ClinGen ExAC gnomAD
rs1242247998 CA384845688	130	M>L		No	ClinGen gnomAD
CA6566088 rs760487111	130	M>T		No	ClinGen ExAC TOPMed
CA384845701 rs1282191119	131	H>Q		No	ClinGen TOPMed gnomAD
rs575930702 CA6566089	132	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs28372674 CA6566092 VAR_050296 COSM3688256	134	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751566347 CA6566093	134	A>V		No	ClinGen ExAC gnomAD
CA6566095 rs768001728	136	G>S		No	ClinGen ExAC gnomAD
rs1158523861 CA384845733	137	S>P		No	ClinGen TOPMed gnomAD
rs1284953545 CA384845741	138	V>A		No	ClinGen TOPMed
rs1021832205 CA236242369	138	V>L		No	ClinGen Ensembl
rs1040106396 CA236242381	139	D>Y		No	ClinGen TOPMed
rs1592235828 CA384845761	141	V>G		No	ClinGen Ensembl
CA384845766 rs1592235835	142	V>G		No	ClinGen Ensembl
CA384845769 rs1438278224	143	C>R		No	ClinGen TOPMed gnomAD
rs754274317 CA6566100	143	C>W		No	ClinGen ExAC gnomAD
TCGA novel	144	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384845801 rs1377400528	148	C>S		No	ClinGen gnomAD
CA384845813 rs1565946728	150	V>E		No	ClinGen Ensembl
rs965413812 CA236242403	150	V>M		No	ClinGen TOPMed
rs1161867709 CA384845837	153	Q>L		No	ClinGen gnomAD
CA384845849 rs771366049	155	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6566105 rs771366049	155	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6566104 rs771720382	155	R>W		No	ClinGen ExAC
CA384845856 rs1292126744	156	I>S		No	ClinGen gnomAD
COSM694312 rs1332876486 CA384845860	157	L>F	lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA384845864 rs1213327605	158	R>C		No	ClinGen TOPMed gnomAD
rs746975972 CA6566106	158	R>H		No	ClinGen ExAC TOPMed gnomAD
CA384845870 rs1592235855	159	E>Q		No	ClinGen Ensembl
CA384845880 rs1592235857	160	V>G		No	ClinGen Ensembl
rs770800754 CA6566108	160	V>M		No	ClinGen ExAC gnomAD
CA6566110 rs759419985	161	C>G		No	ClinGen ExAC gnomAD
rs921271392 CA236242502	162	R>I		No	ClinGen Ensembl
rs768759909 CA6566111	163	V>M		No	ClinGen ExAC gnomAD
rs200225451 CA236242511	166	P>L		No	ClinGen gnomAD
CA384845912 rs1448504349	166	P>T		No	ClinGen TOPMed
CA384846371 rs1248320514	167	G>E		No	ClinGen TOPMed
rs1565947722 CA384846388	169	A>T		No	ClinGen Ensembl
CA384846398 rs1485670801	170	F>L		No	ClinGen gnomAD
rs1263289246 CA384846424	171	Y>*		No	ClinGen gnomAD
CA6566148 rs752350143	171	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	172	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448321839 CA384846432	172	F>S		No	ClinGen gnomAD
rs1190623137 CA384846448	173	M>I		No	ClinGen gnomAD
rs537014184 CA6566149	175	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs763880204 CA6566150	177	A>T		No	ClinGen ExAC TOPMed gnomAD
CA384846500 rs1307765579	179	E>A		No	ClinGen TOPMed
CA384846510 rs1393119386	180	C>F		No	ClinGen TOPMed gnomAD
rs1393119386 CA384846508	180	C>Y		No	ClinGen TOPMed gnomAD
rs756853071 CA6566152	181	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6566154 rs372538023	182	T>S		No	ClinGen ExAC gnomAD
rs779799888 CA6566156	185	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA236245310 rs913058946	185	Y>S		No	ClinGen TOPMed
CA384846547 rs749117781	186	F>L		No	ClinGen ExAC gnomAD
CA384846549 rs1439044915	186	F>S		No	ClinGen gnomAD
CA6566157 rs749117781	186	F>V		No	ClinGen ExAC gnomAD
rs1446775644 CA384846556	187	W>*		No	ClinGen TOPMed
rs1301711620 CA384846563	188	Q>*		No	ClinGen gnomAD
CA6566158 rs772273041	190	V>L		No	ClinGen ExAC gnomAD
TCGA novel	192	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374716936 CA384846598	192	D>H		No	ClinGen TOPMed
CA6566159 rs141756527	194	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592237267 CA384846640	195	W>C		No	ClinGen Ensembl
CA6566160 rs747002074	197	L>I		No	ClinGen ExAC gnomAD
TCGA novel	198	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236245326 rs1044178430	200	D>G		No	ClinGen TOPMed
CA6566162 rs375840590	202	C>S		No	ClinGen ESP ExAC gnomAD
rs903859415 CA236245330	202	C>Y		No	ClinGen TOPMed
CA384846738 rs1565947770	205	T>P		No	ClinGen Ensembl
CA6566165 rs368632060	207	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6566164 rs760112515	207	E>Q		No	ClinGen ExAC gnomAD
CA6566166 rs146002876	208	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6566167 rs763479444	209	W>*		No	ClinGen ExAC TOPMed gnomAD
rs763829053 CA6566168	209	W>C		No	ClinGen ExAC gnomAD
rs1179917900 CA384846795	210	K>Q		No	ClinGen TOPMed
rs201304933 CA6566169	210	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384846824 rs1430599653	212	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767088819 CA236245356	214	R>G		No	ClinGen ExAC TOPMed gnomAD
CA384846842 rs749947319	214	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749947319 CA6566173 COSM3704201	214	R>P	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM288393 CA6566172 rs749947319	214	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767088819 CA6566171	214	R>W		No	ClinGen ExAC TOPMed gnomAD
rs771055801 CA6566175	219	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs754779355 CA6566176	220	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1312073895 CA384846928	223	Q>*		No	ClinGen gnomAD
rs747285575 CA6566178	224	H>N		No	ClinGen ExAC gnomAD
rs770868961 CA6566179	225	I>V		No	ClinGen ExAC gnomAD
rs1270923752 CA384846979	227	A>D		No	ClinGen gnomAD
CA6566180 rs781309984	227	A>P		No	ClinGen ExAC gnomAD
rs1270923752 CA384846981	227	A>V		No	ClinGen gnomAD
CA6566181 rs745977673	228	P>L		No	ClinGen ExAC gnomAD
CA384847001 rs1224343161	230	S>P		No	ClinGen TOPMed
CA384847041 rs770422341	233	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6566183 rs776201131	234	V>M		No	ClinGen ExAC gnomAD
rs763354451 CA6566184	235	R>C		No	ClinGen ExAC gnomAD
rs769150846 COSM312845 CA6566185	235	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs761500571 CA6566188	237	H>Q		No	ClinGen ExAC gnomAD
rs774110898 CA6566186	237	H>R		No	ClinGen ExAC
CA384847081 rs1377018503	237	H>Y		No	ClinGen TOPMed
rs1466460565 CA384847093	238	I>T		No	ClinGen gnomAD
rs767111729 CA6566189	238	I>V		No	ClinGen ExAC gnomAD
CA6566190 rs749942160	239	Y>C		No	ClinGen ExAC gnomAD
CA384847101 rs1300341274	239	Y>H		No	ClinGen gnomAD
rs766245142 CA6566192	243	V>M		No	ClinGen ExAC gnomAD
CA236245504 rs574208022	245	K>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6566195 rs574208022	245	K>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1198967164 CA384847173	245	K>Y		No	ClinGen TOPMed gnomAD

No associated diseases with Q9H8H3

1 regional properties for Q9H8H3

Type	Name	Position	InterPro Accession
domain	Methyltransferase type 11	75 - 172	IPR013216

Functions

		Description
EC Number	2.1.1.9	Methyltransferases
Subcellular Localization	Lipid droplet Endoplasmic reticulum Membrane Microsome Cytoplasm, cytosol	Inserted in the ER membrane and migrates from the inserted site to lipid droplet
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
tertiary granule lumen	Any membrane-enclosed lumen that is part of a tertiary granule.

1 GO annotations of molecular function

Name	Definition
methyltransferase activity	Catalysis of the transfer of a methyl group to an acceptor molecule.

1 GO annotations of biological process

Name	Definition
methylation	The process in which a methyl group is covalently attached to a molecule.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q562C4	Mettl7b	Thiol S-methyltransferase METTL7B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MELTIFILRL	AIYILTFPLY	LLNFLGLWSW	ICKKWFPYFL	VRFTVIYNEQ	MASKKRELFS
70	80	90	100	110	120
NLQEFAGPSG	KLSLLEVGCG	TGANFKFYPP	GCRVTCIDPN	PNFEKFLIKS	IAENRHLQFE
130	140	150	160	170	180
RFVVAAGENM	HQVADGSVDV	VVCTLVLCSV	KNQERILREV	CRVLRPGGAF	YFMEHVAAEC
190	200	210	220	230	240
STWNYFWQQV	LDPAWHLLFD	GCNLTRESWK	ALERASFSKL	KLQHIQAPLS	WELVRPHIYG

YAVK