AiPD: Autoinhibited Protein Database

Q9NPF5

Gene name	DMAP1 (KIAA1425)
Protein name	DNA methyltransferase 1-associated protein 1
Names	DNMAP1, DNMT1-associated protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55929
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-118 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-118 (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

3 structures for Q9NPF5

Entry ID	Method	Resolution	Chain	Position	Source
3HM5	X-ray	180 A	A	121-212	PDB
4IEJ	X-ray	145 A	A	121-212	PDB
AF-Q9NPF5-F1	Predicted				AlphaFoldDB

308 variants for Q9NPF5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA818673 RCV000993990 RCV002549847 rs150290470	283	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374557407 CA21718073	2	A>T		No	ClinGen ESP gnomAD
rs1398848350 CA340055608	3	T>A		No	ClinGen gnomAD
TCGA novel	3	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340055642 rs1328595666	4	G>D		No	ClinGen gnomAD
rs1368897971 CA340055671	5	A>V		No	ClinGen gnomAD
rs1193847634 CA340055700	7	V>I		No	ClinGen gnomAD
rs1299594681 CA340055723	8	R>W		No	ClinGen TOPMed gnomAD
CA340055804 rs1309508833	12	E>K		No	ClinGen gnomAD
rs867078728 CA21718080	14	G>E		No	ClinGen gnomAD
rs1028034898 CA21718077	14	G>R		No	ClinGen TOPMed
rs1257514046 CA340055881	15	G>V		No	ClinGen gnomAD
rs1316219346 CA340055892	16	P>A		No	ClinGen gnomAD
rs1215625045 CA340055916	17	E>G		No	ClinGen gnomAD
rs866800708 CA21718083	18	G>W		No	ClinGen Ensembl
rs765353094 CA818360	20	A>G		No	ClinGen ExAC gnomAD
rs765353094 CA340055971	20	A>V		No	ClinGen ExAC gnomAD
CA340055980 rs1264937113	21	A>T		No	ClinGen gnomAD
CA340055990 rs1478603547	21	A>V		No	ClinGen gnomAD
CA818362 rs762931520	27	K>R		No	ClinGen ExAC gnomAD
CA818363 rs766424456	29	D>N		No	ClinGen ExAC TOPMed gnomAD
CA340056220 rs868865806	33	P>L		No	ClinGen TOPMed
rs868865806 CA21718094	33	P>Q		No	ClinGen TOPMed
rs1351009699 CA340056211	33	P>S		No	ClinGen gnomAD
rs1249757858 CA340056271	35	K>N		No	ClinGen TOPMed gnomAD
rs189226255 CA21718095	35	K>R		No	ClinGen 1000Genomes gnomAD
CA21718278 rs1040436915	38	S>C		No	ClinGen TOPMed
TCGA novel	38	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378787319 CA340056897	41	S>Y		No	ClinGen TOPMed gnomAD
CA340056902 rs1253691706	42	S>F		No	ClinGen TOPMed
CA340056906 rs1557753738	43	E>K		No	ClinGen Ensembl
CA818386 rs752746278	44	T>I		No	ClinGen ExAC TOPMed gnomAD
CA340056927 rs1333410656	46	T>I		No	ClinGen TOPMed gnomAD
CA340056932 rs1557753756	47	F>S		No	ClinGen Ensembl
rs753577172 CA818390	57	V>D		No	ClinGen ExAC gnomAD
rs778558636 CA818392	58	Y>C		No	ClinGen ExAC gnomAD
rs1557753792 CA340057036	62	Y>C		No	ClinGen Ensembl
CA818440 rs757848536	67	D>Y		No	ClinGen ExAC gnomAD
CA21718450 rs908647040	70	P>R		No	ClinGen Ensembl
CA340057356 rs1186899466	76	T>S		No	ClinGen gnomAD
rs1384574968 CA340057374	77	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1325738701 CA340057385	78	Q>*		No	ClinGen gnomAD
rs940092247 CA340057438	80	Y>*		No	ClinGen gnomAD
TCGA novel	81	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA818443 rs151272574	81	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA340057570 rs1380616645	86	K>R		No	ClinGen gnomAD
TCGA novel	86	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA340057630 rs1347980099	89	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA340057723 rs1166868038	92	V>A		No	ClinGen TOPMed
CA340057714 rs1166868038	92	V>G		No	ClinGen TOPMed
rs761588961 COSM4144007 COSM4144006 CA818448	93	R>Q	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs34697342 COSM244058 CA340057742	93	R>W	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA340057779 rs1381256649	94	P>S		No	ClinGen gnomAD
CA818450 rs772943430	97	W>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	101	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA818453 rs765987110	102	N>K		No	ClinGen ExAC gnomAD
rs372962895 CA818454	103	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1241301800 CA340058138	105	R>C		No	ClinGen gnomAD
rs752252650 CA818456	105	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1248927467 CA340058182	106	K>R		No	ClinGen TOPMed
rs750793953 CA818459	108	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1032104702 CA21718502	108	G>R		No	ClinGen TOPMed
rs758872029 CA818460	109	A>P		No	ClinGen ExAC gnomAD
rs780318980 CA818461	113	H>R		No	ClinGen ExAC TOPMed gnomAD
rs145929825 CA818462	116	R>C		No	ClinGen ESP ExAC gnomAD
rs755233632 CA818463	116	R>H		No	ClinGen ExAC gnomAD
CA21718521 rs892222427	117	A>P		No	ClinGen TOPMed gnomAD
rs892222427 CA21718518	117	A>T		No	ClinGen TOPMed gnomAD
CA340058455 rs1376777307	118	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1025142402 CA21718534	120	E>D		No	ClinGen TOPMed
rs891533101 CA21718531	120	E>K		No	ClinGen TOPMed
rs749079273 CA818468	124	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA340058573 rs1390337174	124	Y>H		No	ClinGen TOPMed
rs371298787 CA818471	128	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371298787 CA340058664	128	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA818473 rs774811886	130	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1572030440 CA340059612	132	T>A		No	ClinGen Ensembl
CA818545 rs751370692	136	P>L		No	ClinGen ExAC gnomAD
CA818546 COSM3689720 COSM2171594 rs145830461	137	V>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA818547 rs145830461	137	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA21719625 rs1019636182	138	Y>C		No	ClinGen TOPMed
CA818548 rs747781202	139	S>L		No	ClinGen ExAC gnomAD
TCGA novel	140	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA818550 rs376952422	141	Q>E		No	ClinGen ESP ExAC gnomAD
CA340059875 rs772541742	143	Y>*		No	ClinGen ExAC gnomAD
CA818554 rs747366744	147	L>F		No	ClinGen ExAC TOPMed gnomAD
CA340059992 rs1308089686	148	H>P		No	ClinGen gnomAD
rs769065111 CA818555	148	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs765409416 CA340060022	149	D>E		No	ClinGen ExAC gnomAD
CA21719639 rs779646178	149	D>G		No	ClinGen Ensembl
rs762027853 CA818557 COSM909992	149	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1324436132 CA340060040	151	A>T		No	ClinGen gnomAD
rs766415972 CA818561	155	A>G		No	ClinGen ExAC TOPMed gnomAD
CA818560 rs763166810	155	A>T		No	ClinGen ExAC gnomAD
rs1572030584 CA340061464	158	D>A		No	ClinGen Ensembl
rs1572030589 CA340061473	159	H>P		No	ClinGen Ensembl
CA340061477 rs1557755749	160	L>F		No	ClinGen Ensembl
rs767278967 CA818565	161	F>L		No	ClinGen ExAC gnomAD
CA340061493 rs1572030624	162	D>A		No	ClinGen Ensembl
rs1430944727 CA340061491	162	D>H		No	ClinGen TOPMed gnomAD
rs1430944727 CA340061490	162	D>N		No	ClinGen TOPMed gnomAD
rs368742800 CA818567	165	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA818568 rs755747117	165	R>H		No	ClinGen ExAC gnomAD
rs748797447 CA818570	166	R>C		No	ClinGen ExAC gnomAD
rs201828316 CA818571	166	R>H	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs372548904 CA818572	167	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA340061524 rs1219566120	167	F>S		No	ClinGen TOPMed
rs199594206 CA818573	168	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs898444637 CA21719669	168	D>N		No	ClinGen TOPMed
rs1572030682 CA340061540	170	R>C		No	ClinGen Ensembl
CA818574 COSM1560600 rs769155056	170	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781579736 CA818576	173	V>D		No	ClinGen ExAC gnomAD
CA340061564 rs1401022734	174	I>V		No	ClinGen TOPMed
rs1425048893 CA340061573	175	H>R		No	ClinGen TOPMed gnomAD
rs748510377 CA818577	176	D>G		No	ClinGen ExAC TOPMed
CA340061585 rs1251801769	177	R>Q		No	ClinGen TOPMed gnomAD
rs192276687 CA818578	177	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773374215 CA818579	179	D>E		No	ClinGen ExAC gnomAD
rs1193824902 CA340061606	180	H>P		No	ClinGen gnomAD
CA818580 rs144462164	180	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461370877 CA340061614	181	Q>R		No	ClinGen TOPMed
rs1198078367 CA340061641	184	K>N		No	ClinGen gnomAD
CA818602 rs772018540	185	K>N		No	ClinGen ExAC TOPMed gnomAD
CA818603 rs775360259	186	R>C		No	ClinGen ExAC TOPMed gnomAD
CA21719796 rs141586055	186	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs1389765793 CA340061692	190	D>N		No	ClinGen TOPMed
CA818604 rs760508897	191	L>M		No	ClinGen ExAC TOPMed gnomAD
CA818606 rs763741160	193	E>K		No	ClinGen ExAC gnomAD
CA818605 rs763741160	193	E>Q		No	ClinGen ExAC gnomAD
rs761415756 CA818607	194	R>Q		No	ClinGen ExAC gnomAD
CA21719807 rs1043259224	194	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA818608 rs764893235	196	Y>H		No	ClinGen ExAC gnomAD
CA818609 rs749903843	196	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA21719818 rs747268999	197	H>Y		No	ClinGen gnomAD
rs757912210 CA818611	198	I>T		No	ClinGen ExAC gnomAD
CA818612 rs140090594	201	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs544496296 CA818613	204	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA340062043 rs1437324167	205	V>A		No	ClinGen TOPMed
CA340062036 rs778241048	205	V>L		No	ClinGen ExAC TOPMed gnomAD
rs778241048 CA818615	205	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749690011 CA818616	206	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1410462270 CA340062052	206	R>W		No	ClinGen TOPMed gnomAD
rs757527244 CA818617	207	A>G		No	ClinGen ExAC TOPMed gnomAD
CA21719834 rs147271334	207	A>T		No	ClinGen ESP TOPMed gnomAD
rs757527244 CA340062077	207	A>V		No	ClinGen ExAC TOPMed gnomAD
CA340062094 COSM122594 rs1470991729	208	V>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779322512 COSM1162668 CA818618	209	P>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA818619 rs376072861	215	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA818621 rs775655920	216	P>Q		No	ClinGen ExAC gnomAD
CA340062244 rs1223929711	217	V>L		No	ClinGen gnomAD
CA340062271 rs1260392099	219	D>N		No	ClinGen TOPMed
CA818622 rs746856748	221	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1311346764 CA340062314	222	H>Y		No	ClinGen TOPMed
rs1012570208 CA21719857 COSM909996	223	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM3400831 CA818624 COSM3400832 rs776362349	224	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA818626 rs192410775	224	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA21719869 rs192410775	224	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA818627 rs764864892	225	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA340062359 rs1461219589	225	R>W		No	ClinGen gnomAD
rs762679185 CA818629	226	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772907285 CA818628	226	R>W		No	ClinGen ExAC gnomAD
rs1178719472 CA340062424	229	Q>*		No	ClinGen TOPMed
rs1406039649 CA340062444	231	E>Q		No	ClinGen gnomAD
CA340062453 rs1481484077	232	R>C		No	ClinGen gnomAD
rs376305922 CA818630	232	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA340062475 rs1469178705	235	N>K		No	ClinGen gnomAD
CA818631 rs751108364	235	N>S		No	ClinGen ExAC TOPMed gnomAD
CA21719890 rs931241626 COSM909997	236	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs368524464 CA818632	236	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA340062491 rs1442633861	238	P>L		No	ClinGen gnomAD
rs919569333 CA21719987	241	V>A		No	ClinGen TOPMed
rs766074536 CA818650	241	V>M		No	ClinGen ExAC gnomAD
CA818652 rs147853070	243	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA340062629 rs1223590282	246	Y>*		No	ClinGen gnomAD
rs762427205 CA818656	248	L>P		No	ClinGen ExAC gnomAD
CA340062662 rs1243798144 COSM1203777	252	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA340062664 rs1557756288	252	R>P		No	ClinGen Ensembl
TCGA novel	253	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141006092 CA21720014	255	E>D		No	ClinGen ESP TOPMed
CA340062696 rs1041312090	257	R>P		No	ClinGen TOPMed
CA21720021 rs1041312090	257	R>Q		No	ClinGen TOPMed
rs758501470 CA818660	257	R>W		No	ClinGen ExAC gnomAD
CA340062723 rs1401567908	261	R>Q		No	ClinGen TOPMed
CA340062721 rs138578742	261	R>W		No	ClinGen ESP TOPMed gnomAD
CA818663 rs751562389	264	R>C		No	ClinGen ExAC TOPMed gnomAD
rs751562389 CA21720034	264	R>S		No	ClinGen ExAC TOPMed gnomAD
CA340062756 rs1384602226	266	Q>*		No	ClinGen gnomAD
TCGA novel	267	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	268	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327544420 CA340062796	272	I>L		No	ClinGen gnomAD
CA818664 rs755107516	274	A>V		No	ClinGen ExAC gnomAD
CA818667 rs769752569	277	T>S		No	ClinGen ExAC TOPMed gnomAD
CA818670 rs770456146	282	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749154138 CA818669	282	R>W		No	ClinGen ExAC gnomAD
rs759108052 CA818672	283	R>C		No	ClinGen ExAC gnomAD
CA21720062 rs948379587	284	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA340062884 rs762372274	286	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762372274 CA818675	286	R>P		No	ClinGen ExAC gnomAD
rs765869837 CA818676	287	K>N		No	ClinGen ExAC gnomAD
rs1031879757 CA21720074	288	A>S		No	ClinGen TOPMed
CA340062933 rs1557756446	294	P>T		No	ClinGen Ensembl
rs766505833 CA340062975	299	A>D		No	ClinGen ExAC gnomAD
CA818679 rs766505833	299	A>V		No	ClinGen ExAC gnomAD
rs565348656 CA818681	302	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1376394704 CA340063022	305	P>A		No	ClinGen gnomAD
rs767772686 CA818700	310	I>V		No	ClinGen ExAC gnomAD
rs1168807004 CA340063091	311	K>R		No	ClinGen gnomAD
COSM1203778 rs756249698 CA818702	313	P>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369461221 CA818701	313	P>S		No	ClinGen ESP ExAC gnomAD
rs1305184282 CA340063149	315	F>I		No	ClinGen gnomAD
rs763921450 CA818703	315	F>L		No	ClinGen ExAC gnomAD
CA340063160 rs1404392079	316	K>R		No	ClinGen gnomAD
CA21720182 rs996136773	321	T>A		No	ClinGen Ensembl
rs753755077 CA340063216	321	T>K		No	ClinGen ExAC TOPMed gnomAD
rs753755077 CA818704	321	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1229356489 CA340063240	323	R>Q		No	ClinGen gnomAD
CA21720190 rs866498390	324	S>C		No	ClinGen Ensembl
rs757150361 CA818705	325	Q>L		No	ClinGen ExAC gnomAD
CA340063290 rs1270561292	326	R>Q		No	ClinGen gnomAD
CA818707 rs745682989	326	R>W		No	ClinGen ExAC gnomAD
rs12760076 CA21720431	327	M>K		No	ClinGen Ensembl
CA21720425 rs12755972	327	M>L		No	ClinGen Ensembl
rs1431859024 CA340063466	329	L>V		No	ClinGen TOPMed gnomAD
rs754618278 CA818729	336	K>R		No	ClinGen ExAC gnomAD
rs747659793 CA818731	337	K>M		No	ClinGen ExAC gnomAD
TCGA novel	337	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771433988 CA818732	337	K>N		No	ClinGen ExAC gnomAD
CA340063784 rs1311202953	342	E>D		No	ClinGen gnomAD
CA340063811 rs1310124218	343	Q>H		No	ClinGen gnomAD
CA818757 rs138593911	353	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769937212 CA818760	355	T>I		No	ClinGen ExAC TOPMed gnomAD
CA340064202 rs1173638863	357	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs999952777 CA21720583	358	E>K		No	ClinGen gnomAD
CA818765 rs759314123	363	M>I		No	ClinGen ExAC gnomAD
rs116305257 CA818764	363	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	368	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA818766 rs767182825 COSM1342961	368	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs189650822 CA818768 CA340064535	370	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777229352 CA818769	372	V>L		No	ClinGen ExAC gnomAD
rs1200185487 CA340064631	376	E>K		No	ClinGen gnomAD
rs768962026 CA818774	378	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1242721814 CA340064791	383	N>S		No	ClinGen TOPMed
CA21720622 rs951792544	385	E>D		No	ClinGen TOPMed gnomAD
CA21720613 rs763717827	385	E>K		No	ClinGen gnomAD
CA818776 rs748252842	386	Y>*		No	ClinGen ExAC gnomAD
rs1331036229 CA340065009 COSM910001	392	R>Q	endometrium Variant assessed as Somatic; 4.708e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA340065003 rs1287693325	392	R>W		No	ClinGen TOPMed
CA340065052 rs1435036087	394	R>C		No	ClinGen gnomAD
CA818778 rs773404079	394	R>H		No	ClinGen ExAC gnomAD
rs749417435 CA818779	395	H>L		No	ClinGen ExAC TOPMed gnomAD
rs770986672 CA818780 CA21720638	395	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA21720644 rs376830920	396	E>G		No	ClinGen ESP TOPMed gnomAD
CA340065130 rs1361797833	397	A>P		No	ClinGen gnomAD
CA340065161 rs774210173	399	A>S		No	ClinGen ExAC gnomAD
rs774210173 CA818783	399	A>T		No	ClinGen ExAC gnomAD
rs1435165317 COSM1342962 CA340065185	400	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs759526565 CA340065179	400	R>W		No	ClinGen ExAC gnomAD
rs775390346 CA818786	401	A>D		No	ClinGen ExAC gnomAD
CA340065198 rs1243744982	401	A>T		No	ClinGen gnomAD
rs760275631 CA818787	402	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1187638597 CA340065222	402	G>S		No	ClinGen gnomAD
rs760275631 CA818788	402	G>V		No	ClinGen ExAC TOPMed gnomAD
CA340065270 rs1389462610	405	G>V		No	ClinGen gnomAD
CA818792 rs143355210	406	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143355210 CA818791	406	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755514530 CA818793	407	P>H		No	ClinGen ExAC gnomAD
rs755514530 CA340065278	407	P>L		No	ClinGen ExAC gnomAD
rs1434856829 CA340065290	409	T>I		No	ClinGen gnomAD
rs140268980 CA818794	411	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs15001 CA21720687	413	G>A		No	ClinGen Ensembl
CA340065371 rs1572034994	415	G>A		No	ClinGen Ensembl
rs201200802 CA818797	416	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA818799 rs143076012	417	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA818801 rs774490712	418	S>F		No	ClinGen ExAC gnomAD
CA818802 rs745749426	421	P>L		No	ClinGen ExAC TOPMed gnomAD
CA340065463 rs1244898852	422	A>G		No	ClinGen TOPMed
CA340065457 rs1367503649	422	A>T		No	ClinGen gnomAD
CA818804 rs775128617	423	V>M		No	ClinGen ExAC gnomAD
rs760506719 CA818805	424	T>I		No	ClinGen ExAC gnomAD
rs200328989 CA818806	426	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA818808 rs761468663	427	G>R		No	ClinGen ExAC TOPMed gnomAD
rs151153383 CA818809	430	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA340065571 rs1333791472	431	D>E		No	ClinGen gnomAD
rs749981061 CA818810	431	D>N		No	ClinGen ExAC gnomAD
TCGA novel	434	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs180793137 CA818813	437	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs768107239 CA818812	437	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1328568395 CA340065669	438	D>G		No	ClinGen gnomAD
rs1304999773 CA340065688	439	V>A		No	ClinGen TOPMed
rs756603966 CA818814	439	V>M		No	ClinGen ExAC gnomAD
CA340065693 rs1266146080	440	V>L		No	ClinGen gnomAD
rs560829214 CA818815	442	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA818817 rs757528262	444	L>F		No	ClinGen ExAC gnomAD
TCGA novel	444	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA818818 rs778812636	445	T>M		No	ClinGen ExAC gnomAD
rs1157636623 CA340065778	446	P>L		No	ClinGen gnomAD
rs771876966 CA818820	447	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA818844 rs768613560	451	R>Q		No	ClinGen ExAC gnomAD
CA818846 rs748014489	452	R>Q		No	ClinGen ExAC gnomAD
CA818845 rs780918219	452	R>W		No	ClinGen ExAC gnomAD
TCGA novel	453	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA21721044 rs200555872	456	S>C		No	ClinGen Ensembl
rs563606391 CA818850	461	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs774025138 CA818851	463	K>R		No	ClinGen ExAC gnomAD
rs1201187416 CA340067034	465	K>R		No	ClinGen TOPMed gnomAD
rs761211394 CA818852	467	P>L		No	ClinGen ExAC TOPMed gnomAD
CA522527952 rs1292928166	468	P>L		No	ClinGen TOPMed
CA21721079 rs952133390	468	P>W		No	ClinGen TOPMed

No associated diseases with Q9NPF5

5 regional properties for Q9NPF5

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	2 - 241	IPR003439
domain	AAA+ ATPase domain	30 - 218	IPR003593
conserved_site	ABC transporter-like, conserved site	141 - 155	IPR017871
domain	NIL domain	265 - 340	IPR018449
domain	Methionine import ATP-binding protein MetN, ATP-binding domain	1 - 233	IPR041701

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Targeted to replication foci throughout S phase by DNMT1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 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.
NuA4 histone acetyltransferase complex	A complex having histone acetylase activity on chromatin, as well as ATPase, DNA helicase and structural DNA binding activities. The complex is thought to be involved in double-strand DNA break repair. Subunits of the human complex include HTATIP/TIP60, TRRAP, RUVBL1, BUVBL2, beta-actin and BAF53/ACTL6A. In yeast, the complex has 13 subunits, including the catalytic subunit Esa1 (homologous to human Tip60).
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleosome	A complex comprised of DNA wound around a multisubunit core and associated proteins, which forms the primary packing unit of DNA into higher order structures.
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.
replication fork	The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.
Swr1 complex	A multisubunit protein complex that is involved in chromatin remodeling. It is required for the incorporation of the histone variant H2AZ into chromatin. In S. cerevisiae, the complex contains Swr1p, a Swi2/Snf2-related ATPase, and 12 additional subunits.

2 GO annotations of molecular function

Name	Definition
RNA polymerase II-specific DNA-binding transcription factor binding	Binding to a sequence-specific DNA binding RNA polymerase II transcription factor, any of the factors that interact selectively and non-covalently with a specific DNA sequence in order to modulate transcription.
transcription corepressor activity	A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

16 GO annotations of biological process

Name	Definition
DNA methylation	The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine.
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
histone acetylation	The modification of a histone by the addition of an acetyl group.
histone exchange	The replacement, within chromatin, of resident histones or histone subunits with alternative, sometimes variant, histones or subunits.
histone H2A acetylation	The modification of histone H2A by the addition of an acetyl group.
histone H4 acetylation	The modification of histone H4 by the addition of an acetyl group.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of double-strand break repair via homologous recombination	Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination.
positive regulation of protein import into nucleus	Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of double-strand break repair	Any process that modulates the frequency, rate or extent of double-strand break repair.
response to ethanol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9JI44	Dmap1	DNA methyltransferase 1-associated protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MATGADVRDI	LELGGPEGDA	ASGTISKKDI	INPDKKKSKK	SSETLTFKRP	EGMHREVYAL
70	80	90	100	110	120
LYSDKKDAPP	LLPSDTGQGY	RTVKAKLGSK	KVRPWKWMPF	TNPARKDGAM	FFHWRRAAEE
130	140	150	160	170	180
GKDYPFARFN	KTVQVPVYSE	QEYQLYLHDD	AWTKAETDHL	FDLSRRFDLR	FVVIHDRYDH
190	200	210	220	230	240
QQFKKRSVED	LKERYYHICA	KLANVRAVPG	TDLKIPVFDA	GHERRRKEQL	ERLYNRTPEQ
250	260	270	280	290	300
VAEEEYLLQE	LRKIEARKKE	REKRSQDLQK	LITAADTTAE	QRRTERKAPK	KKLPQKKEAE
310	320	330	340	350	360
KPAVPETAGI	KFPDFKSAGV	TLRSQRMKLP	SSVGQKKIKA	LEQMLLELGV	ELSPTPTEEL
370	380	390	400	410	420
VHMFNELRSD	LVLLYELKQA	CANCEYELQM	LRHRHEALAR	AGVLGGPATP	ASGPGPASAE
430	440	450	460
PAVTEPGLGP	DPKDTIIDVV	GAPLTPNSRK	RRESASSSSS	VKKAKKP