AiPD: Autoinhibited Protein Database

Q8NB15

Gene name	ZNF511
Protein name	Zinc finger protein 511
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:118472
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 Q8NB15

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NB15-F1	Predicted				AlphaFoldDB

236 variants for Q8NB15

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA378843614 rs1205316551	2	Q>H		No	ClinGen TOPMed
CA216822211 rs927776215 CA378843621	3	L>F		No	ClinGen TOPMed
CA216822225 rs956567043	4	P>A		No	ClinGen TOPMed gnomAD
CA216822232 rs1038456044	4	P>R		No	ClinGen TOPMed
rs956567043 CA378843622	4	P>S		No	ClinGen TOPMed gnomAD
rs956567043 CA216822231	4	P>T		No	ClinGen TOPMed gnomAD
rs1030310229 CA216822242	5	P>A		No	ClinGen TOPMed
rs955678638 CA216822247	5	P>L		No	ClinGen TOPMed gnomAD
rs955678638 CA216822244	5	P>R		No	ClinGen TOPMed gnomAD
CA378843625 rs1030310229	5	P>S		No	ClinGen TOPMed
rs1383278536 CA378843628	6	A>T		No	ClinGen TOPMed
CA5764667 rs752943294	7	L>M		No	ClinGen ExAC TOPMed gnomAD
CA378843640 rs1564777082	8	C>R		No	ClinGen Ensembl
CA378843641 rs1260709339	8	C>Y		No	ClinGen TOPMed
CA216822251 rs946802030	9	A>T		No	ClinGen Ensembl
rs549797543 CA216822252	10	R>C		No	ClinGen 1000Genomes TOPMed
rs1326244485 CA378843658	11	L>F		No	ClinGen TOPMed gnomAD
CA378843664 rs1221068695	12	A>S		No	ClinGen TOPMed
rs1356699533 CA378843671	13	A>E		No	ClinGen TOPMed
rs1356699533 CA378843673	13	A>V		No	ClinGen TOPMed
rs569605747 CA216822300	14	G>E		No	ClinGen 1000Genomes
CA216822297 rs569605747	14	G>V		No	ClinGen 1000Genomes
CA216822270 rs989826410	14	G>W		No	ClinGen TOPMed
rs1387797380 CA378843677	15	P>T		No	ClinGen gnomAD
rs1431184716 CA378843686	16	G>E		No	ClinGen gnomAD
CA378843695 rs1168835883	18	A>T		No	ClinGen gnomAD
rs770733163 CA5764672	18	A>V		No	ClinGen ExAC gnomAD
CA378843712 rs1246108856	20	P>R		No	ClinGen TOPMed
rs1229501899 CA378843718	21	L>R		No	ClinGen gnomAD
CA378843715 rs1342745621	21	L>V		No	ClinGen TOPMed gnomAD
rs1384339296 CA378843721	22	P>A		No	ClinGen TOPMed
rs1290771213 CA378843723	22	P>R		No	ClinGen gnomAD
rs1051321398 CA216822338	23	V>I		No	ClinGen TOPMed
CA216822340 rs929241720	26	D>N		No	ClinGen TOPMed
CA378843770 rs1230786431	30	G>R		No	ClinGen TOPMed gnomAD
rs1484344799 CA378843774	30	G>V		No	ClinGen gnomAD
CA378843771 rs1230786431	30	G>W		No	ClinGen TOPMed gnomAD
CA216822346 rs201151541	31	A>G		No	ClinGen TOPMed
rs201151541 CA378843778	31	A>V		No	ClinGen TOPMed
CA378843801 rs1275603255	35	R>C		No	ClinGen gnomAD
CA378843802 rs1275603255	35	R>S		No	ClinGen gnomAD
CA378843825 rs1344636513	38	A>V		No	ClinGen gnomAD
rs1198195945 CA378843829	39	R>H		No	ClinGen TOPMed
rs898891258 CA216822354	41	V>A		No	ClinGen Ensembl
rs768406655 CA5764678	41	V>M		No	ClinGen ExAC TOPMed gnomAD
rs774180033 CA5764679	46	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5764680 rs760837537	46	E>D		No	ClinGen ExAC gnomAD
CA216822358 rs997242483	46	E>K		No	ClinGen TOPMed gnomAD
rs1051137138 CA216822362	47	H>Q		No	ClinGen TOPMed
CA5764681 rs574715352	49	F>I		No	ClinGen 1000Genomes ExAC gnomAD
CA216822363 rs867958214	50	F>L		No	ClinGen Ensembl
CA216822368 rs868117806	51	E>*		No	ClinGen Ensembl
CA5764721 rs769944549	52	D>A		No	ClinGen ExAC gnomAD
CA5764720 rs746057915	52	D>H		No	ClinGen ExAC gnomAD
rs1267119101 CA378843929	53	G>E		No	ClinGen TOPMed
rs1564777740 CA378843933	54	D>H		No	ClinGen Ensembl
CA5764723 rs763138340	55	V>L		No	ClinGen ExAC TOPMed gnomAD
CA378843940 rs763138340	55	V>M		No	ClinGen ExAC TOPMed gnomAD
rs368318699 CA5764724	56	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370544381 CA5764725	57	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5764727 rs767898882	57	R>H		No	ClinGen ExAC gnomAD
CA5764726 rs370544381	57	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs552015288 CA216822723	58	H>L		No	ClinGen Ensembl
rs1305894361 CA378843957	58	H>Y		No	ClinGen gnomAD
rs202111230 CA5764729	60	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753327980 CA5764731	61	L>F		No	ClinGen ExAC TOPMed gnomAD
rs778458681 CA5764733	62	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs147218077 CA5764732	62	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA216822741 rs904916876	63	D>A		No	ClinGen Ensembl
CA5764735 rs758356967	63	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5764734 rs752611124	63	D>N		No	ClinGen ExAC gnomAD
rs746789128 CA5764737	64	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs564371659 CA5764736	64	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA378844001 rs1403090232	65	I>L		No	ClinGen TOPMed
CA378844008 rs1332454311	65	I>T		No	ClinGen TOPMed
CA5764739 rs780127248	66	M>I		No	ClinGen ExAC TOPMed gnomAD
CA378844016 rs770000845	66	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5764738 rs770000845	66	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1434007620 CA378844032	67	Q>*		No	ClinGen TOPMed
rs567026204 CA216822772	67	Q>H		No	ClinGen Ensembl
rs749590837 CA378844037	67	Q>L		No	ClinGen ExAC gnomAD
rs749590837 CA5764740	67	Q>R		No	ClinGen ExAC gnomAD
CA378844049 rs1166946707	68	V>A		No	ClinGen gnomAD
rs756377725 CA216822778	69	A>T		No	ClinGen TOPMed
CA216822779 rs868305864	69	A>V		No	ClinGen Ensembl
CA5764743 rs762359798	70	D>N		No	ClinGen ExAC gnomAD
rs367646550 CA5764744	72	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs367646550 CA216822785	72	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372700349 CA378844092	72	P>S		No	ClinGen gnomAD
rs1302086869 CA378844104	73	E>*		No	ClinGen TOPMed gnomAD
rs773558513 CA5764745	74	K>E		No	ClinGen ExAC gnomAD
rs760956687 CA5764746	75	P>H		No	ClinGen ExAC gnomAD
rs760956687 CA378844142	75	P>L		No	ClinGen ExAC gnomAD
rs533270851 CA5764747	76	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5764784 rs747449340	77	V>A		No	ClinGen ExAC gnomAD
CA5764783 rs747449340	77	V>G		No	ClinGen ExAC gnomAD
CA378844233 rs1329020064	77	V>M		No	ClinGen gnomAD
rs201710528 CA5764785	78	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378844244 rs201710528	78	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378844252 rs1447650778	79	A>T		No	ClinGen gnomAD
CA5764786 rs746249082	79	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA5764787 rs770202221	82	C>Y		No	ClinGen ExAC gnomAD
CA5764788 rs775119784	83	Q>H		No	ClinGen ExAC gnomAD
CA378844284 rs1376035655	83	Q>L		No	ClinGen TOPMed
CA378844300 rs1307047357	85	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA216823195 rs960232602	86	G>S		No	ClinGen TOPMed
CA378844323 rs1333274736	87	C>*		No	ClinGen TOPMed
rs1410977260 CA378844337	88	C>*		No	ClinGen gnomAD
CA378844348 rs927554789	89	Q>L		No	ClinGen TOPMed gnomAD
CA216823202 rs927554789	89	Q>R		No	ClinGen TOPMed gnomAD
CA378844359 rs1408696943	90	V>G		No	ClinGen TOPMed gnomAD
rs1438590513 CA378844383	92	D>A		No	ClinGen TOPMed
rs988980220 CA216823206	92	D>E		No	ClinGen Ensembl
rs1351216523 CA378844378	92	D>N		No	ClinGen TOPMed gnomAD
CA378844405 rs1378970704	94	L>P		No	ClinGen TOPMed
rs1304069086 CA378844453	98	E>K		No	ClinGen gnomAD
rs368516549 CA216823214	100	H>D		No	ClinGen ESP TOPMed gnomAD
rs368516549 CA216823215	100	H>Y		No	ClinGen ESP TOPMed gnomAD
CA5764793 rs767566348	101	Y>*		No	ClinGen ExAC gnomAD
CA378844499 rs1444332597	101	Y>H		No	ClinGen TOPMed
rs750184797 CA5764794	103	T>R		No	ClinGen ExAC gnomAD
rs755955228 CA5764795	105	H>Y		No	ClinGen ExAC gnomAD
rs1057353840 CA216823242	106	G>*		No	ClinGen TOPMed
rs1287844598 CA378844568	107	N>S		No	ClinGen gnomAD
rs137889151 CA5764797	108	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs141141591 CA5764798	109	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs777677169 CA5764799	109	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA378844595 rs1242153327	110	S>P		No	ClinGen TOPMed
CA5764801 rs757706918	114	R>Q		No	ClinGen ExAC gnomAD
CA378844650 rs1472442670	114	R>W		No	ClinGen gnomAD
CA5764802 rs781659266	115	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5764804 rs763569871	116	F>L		No	ClinGen ExAC gnomAD
rs1283373704 CA378844667	116	F>V		No	ClinGen TOPMed
CA216823275 rs372247217	118	S>F		No	ClinGen ESP
rs1368379267 CA378844702	119	G>R		No	ClinGen TOPMed gnomAD
rs533232030 CA216823290	123	D>A		No	ClinGen 1000Genomes
rs150725895 CA5764806	123	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA216823292 rs891045838	129	W>*		No	ClinGen Ensembl
CA378844818 rs1340359788	131	D>H		No	ClinGen TOPMed gnomAD
rs1340359788 CA378844816	131	D>N		No	ClinGen TOPMed gnomAD
rs771765535 CA5764810	132	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773273565 CA5764812	136	I>F		No	ClinGen ExAC gnomAD
CA216823316 rs897209614	136	I>S		No	ClinGen TOPMed gnomAD
rs760732161 CA5764814	137	L>P		No	ClinGen ExAC gnomAD
CA378844889 rs1387894251	141	Q>*		No	ClinGen gnomAD
rs1589842781 CA378844904	142	D>G		No	ClinGen Ensembl
CA378844991 rs1437486104	144	Y>C		No	ClinGen gnomAD
CA378845037 rs1589843012	147	L>F		No	ClinGen Ensembl
rs369149265 CA5764842	148	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA216823474 rs199611086	152	T>R		No	ClinGen 1000Genomes
rs201856788 CA5764843	153	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs905944140 CA216823476	154	K>M		No	ClinGen TOPMed
CA378845122 rs905944140	154	K>R		No	ClinGen TOPMed
rs543967505 CA216823477	155	F>L		No	ClinGen Ensembl
CA5764845 rs780621434	156	K>M		No	ClinGen ExAC gnomAD
rs1259773746 CA378845145	157	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1266184829 CA378845168	160	D>E		No	ClinGen gnomAD
rs199668244 CA5764847	160	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378845171 rs1311250922	161	R>Q		No	ClinGen TOPMed
rs1449551406 CA378845170	161	R>W		No	ClinGen gnomAD
rs747778765 CA5764849	164	H>R		No	ClinGen ExAC TOPMed gnomAD
CA216823489 rs867558641	167	R>K		No	ClinGen Ensembl
CA5764851 rs149909072	168	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA378845273 rs1332478552	170	L>Q		No	ClinGen TOPMed
rs779200464 CA216823512	171	Y>F		No	ClinGen Ensembl
rs570292213 CA5764854	172	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5764855 rs776627133 COSM916493	173	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5764856 rs745837286	173	A>V		No	ClinGen ExAC gnomAD
rs1345905963 CA378845323	174	D>E		No	ClinGen gnomAD
rs200701211 CA5764859	176	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200701211 CA216823521	176	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5764858 rs775173794	176	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1589843125 CA378845357	177	F>L		No	ClinGen Ensembl
CA378845418 rs1177876958	182	K>*		No	ClinGen TOPMed
rs1239697737 CA378845432	183	S>T		No	ClinGen TOPMed
rs1264376886 CA378845440	184	R>G		No	ClinGen TOPMed gnomAD
CA5764889 rs764593730	187	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751234170 CA5764890	188	S>A		No	ClinGen ExAC gnomAD
rs756886391 CA5764891	188	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5764892 rs780715775	189	A>E		No	ClinGen ExAC gnomAD
rs200152907 CA378845814	191	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216824606 rs1055590533	191	A>S		No	ClinGen Ensembl
CA5764893 rs200152907	191	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5764897 rs768404597	194	D>A		No	ClinGen ExAC gnomAD
CA378845832 rs1272382068	194	D>E		No	ClinGen TOPMed
CA5764896 rs142332607	194	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5764895 rs142332607	194	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375235106 CA5764898	195	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564779427 CA378845854	197	E>D		No	ClinGen Ensembl
rs747203864 CA5764899	198	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776705047 CA378845866	198	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776705047 CA5764901	198	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5764900 rs747203864	198	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1428875572 CA378845879	199	S>L		No	ClinGen gnomAD
CA5764902 rs759522897	203	A>G		No	ClinGen ExAC gnomAD
CA5764903 rs770066916	204	M>V		No	ClinGen ExAC gnomAD
rs779087283 CA216824678	205	E>D		No	ClinGen Ensembl
rs776110770 CA5764904	205	E>G		No	ClinGen ExAC TOPMed gnomAD
rs764507909 CA5764907	209	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1362270380 CA378846054	210	P>R		No	ClinGen gnomAD
rs200388024 CA5764909	213	A>G		No	ClinGen ExAC gnomAD
CA378846087 rs1321956100	213	A>T		No	ClinGen gnomAD
CA5764910 rs201325443	214	S>P		No	ClinGen ExAC gnomAD
rs755572282 CA5764911	214	S>Y		No	ClinGen ExAC gnomAD
CA378846127 rs1190363761	216	A>T		No	ClinGen gnomAD
CA5764913 rs561067562	217	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378846138 rs1481333612	218	A>T		No	ClinGen TOPMed gnomAD
CA5764916 rs529497723	220	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5764915 rs376621716	220	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160692748 CA378846158	221	R>K		No	ClinGen gnomAD
rs771125116 CA378846163	222	R>G		No	ClinGen ExAC gnomAD
CA5764918 rs766626266	222	R>Q	Variant assessed as Somatic; 0.0006495 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771125116 CA5764917	222	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1302857839 CA378846167	223	I>V		No	ClinGen gnomAD
CA378846194 rs1203399670	226	H>Q		No	ClinGen TOPMed
rs1195704777 CA378846434	229	P>A		No	ClinGen gnomAD
CA378846436 rs1052607215	229	P>H		No	ClinGen TOPMed gnomAD
CA216827590 rs1052607215	229	P>L		No	ClinGen TOPMed gnomAD
rs1195704777 CA378846435	229	P>S		No	ClinGen gnomAD
rs1197408684 CA378846456	232	I>M		No	ClinGen TOPMed gnomAD
CA216827595 rs748477067	234	F>S		No	ClinGen Ensembl
CA216827596 rs1011030916	237	G>D		No	ClinGen Ensembl
rs1174883565 CA378846491	238	A>T		No	ClinGen gnomAD
CA378846498 rs561579017	239	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5764982 rs561579017	239	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5764983 rs771265081	240	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781561702 CA5764984	240	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756515832 CA5764985	241	G>V		No	ClinGen ExAC TOPMed gnomAD
rs769492902 CA5764986	242	F>L		No	ClinGen ExAC gnomAD
CA5764987 rs774808118	244	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5764988 rs762515787	245	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781119194 CA216827634	246	K>N		No	ClinGen Ensembl
rs1296558814 CA378846553	247	K>N		No	ClinGen TOPMed
CA378846585 rs1237644070	252	C>R		No	ClinGen gnomAD
rs142257347 CA378846590	252	C>W		No	ClinGen ESP TOPMed gnomAD
rs367741436 CA5764990	253	C>R		No	ClinGen ESP ExAC gnomAD

No associated diseases with Q8NB15

3 regional properties for Q8NB15

Type	Name	Position	InterPro Accession
domain	Zinc finger C2H2-type	80 - 105	IPR013087-1
domain	Zinc finger C2H2-type	107 - 130	IPR013087-2
domain	Zinc finger C2H2-type	144 - 169	IPR013087-3

Functions

		Description
EC Number
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

2 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
metal ion binding	Binding to a metal ion.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9V574	l(2)k10201	Protein lethal(2)k10201	Drosophila melanogaster (Fruit fly)	PR

10	20	30	40	50	60
MQLPPALCAR	LAAGPGAAEP	LPVERDPAAG	AAPFRFVARP	VRFPREHQFF	EDGDVQRHLY
70	80	90	100	110	120
LQDVIMQVAD	VPEKPRVPAF	ACQVAGCCQV	FDALDDYEHH	YHTLHGNVCS	FCKRAFPSGH
130	140	150	160	170	180
LLDAHILEWH	DSLFQILSER	QDMYQCLVEG	CTEKFKTSRD	RKDHMVRMHL	YPADFRFDKP
190	200	210	220	230	240
KKSRSPASAE	APGDSGERSE	GEAMEICSEP	VAASPAPAGE	RRIYRHRIPS	TICFGQGAAR
250
GFKSNKKKTK	QC