AiPD: Autoinhibited Protein Database

Q13506

Gene name	NAB1
Protein name	NGFI-A-binding protein 1
Names	EGR-1-binding protein 1, Transcriptional regulatory protein p54
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4664
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

366-441 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

366-441 (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

2 structures for Q13506

Entry ID	Method	Resolution	Chain	Position	Source
2YUF	NMR	-	A	189-317	PDB
AF-Q13506-F1	Predicted				AlphaFoldDB

330 variants for Q13506

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
COSM1404114 CA2028785 rs754331585	2	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2028786 rs759984574	3	A>G		No	ClinGen ExAC gnomAD
rs1327351164 CA349997543	3	A>T		No	ClinGen TOPMed
CA2028787 rs759984574	3	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1415259029 CA349997558	5	L>F		No	ClinGen gnomAD
CA349997594 rs1574424976	11	E>G		No	ClinGen Ensembl
CA349997599 rs1574424986	12	L>V		No	ClinGen Ensembl
CA349997606 rs1420664336	13	Q>*		No	ClinGen gnomAD
rs755895091 CA2028792	16	R>K		No	ClinGen ExAC TOPMed gnomAD
CA349997641 rs1387171821	18	L>S		No	ClinGen TOPMed
COSM1404115 CA2028793 rs779731764	25	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2028796 rs369230098	29	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2028795 rs369230098	29	A>G		No	ClinGen ExAC TOPMed gnomAD
CA349997719 rs369230098	29	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1290704187 CA349997761	35	G>D		No	ClinGen TOPMed
CA349997802 rs1226887659	41	L>V		No	ClinGen TOPMed gnomAD
rs773356500 CA2028799	47	E>G		No	ClinGen ExAC gnomAD
TCGA novel	48	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349997858 rs1446368713	49	F>I		No	ClinGen TOPMed gnomAD
TCGA novel	50	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349997905 rs1232485634	55	L>F		No	ClinGen gnomAD
TCGA novel	56	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA62963148 rs981254661 COSM1216584	56	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	57	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028804 rs765660868	60	S>G		No	ClinGen ExAC gnomAD
CA349997951 rs1238428684	62	P>A		No	ClinGen gnomAD
rs1410005344 CA349997970	65	V>I		No	ClinGen TOPMed
CA349998011 rs1438116392	71	A>T		No	ClinGen TOPMed gnomAD
rs761352453 CA2028806	74	D>E		No	ClinGen ExAC gnomAD
CA349998050 rs1177426227	76	V>A		No	ClinGen gnomAD
rs758370257 CA62963150	76	V>F		No	ClinGen gnomAD
CA349998049 rs1177426227	76	V>G		No	ClinGen gnomAD
CA349998047 rs758370257	76	V>I		No	ClinGen gnomAD
rs767145188 CA2028807	77	T>A		No	ClinGen ExAC gnomAD
CA2028808 rs750043668	78	N>D		No	ClinGen ExAC gnomAD
CA349998062 rs1302856875	78	N>K		No	ClinGen TOPMed
CA349998059 rs1574425324	78	N>T		No	ClinGen Ensembl
rs958832804 CA62963152	79	P>A		No	ClinGen TOPMed
CA349998067 rs1336109000	79	P>R		No	ClinGen gnomAD
CA349998086 rs1377969224	82	F>C		No	ClinGen gnomAD
rs917283686 CA62963154	83	N>K		No	ClinGen TOPMed
CA2028809 rs755696517	83	N>S		No	ClinGen ExAC gnomAD
CA349998119 rs1306879424	87	T>I		No	ClinGen gnomAD
CA349998127 rs1219781070	89	L>F		No	ClinGen gnomAD
TCGA novel	89	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028812 rs376386678	92	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA349998145 rs376386678	92	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA349998158 rs1180883600	93	S>R		No	ClinGen gnomAD
rs370865491 CA2028813	95	P>S		No	ClinGen ESP ExAC gnomAD
CA62963155 rs927148586	97	Y>C		No	ClinGen gnomAD
CA62963157 rs201840460	102	G>R		No	ClinGen 1000Genomes
CA62963158 rs575147882	104	P>L		No	ClinGen gnomAD
CA62963159 rs751431764	105	T>A		No	ClinGen Ensembl
rs747162813 CA2028818	106	W>R		No	ClinGen ExAC TOPMed gnomAD
rs771028623 COSM222739 CA2028819	108	G>R	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs940591664 CA62963160	116	R>M		No	ClinGen TOPMed
rs746208529 CA2028821	117	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA349998318 rs1574425675	117	S>R		No	ClinGen Ensembl
rs1436954270 CA349998323	118	S>N		No	ClinGen gnomAD
rs200434948 CA2028823	120	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2028824 rs151227332	120	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1216583 CA2028827 rs760296647	121	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs772814531 CA2028826	121	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2028828 rs765932389	122	E>Q		No	ClinGen ExAC
rs1039841061 CA62963162	123	P>S		No	ClinGen Ensembl
CA2028829 rs753540602	128	P>L		No	ClinGen ExAC TOPMed gnomAD
CA349998389 rs753540602	128	P>R		No	ClinGen ExAC TOPMed gnomAD
rs900019657 CA62963163	129	K>I		No	ClinGen gnomAD
rs900019657 CA349998394	129	K>R		No	ClinGen gnomAD
rs149773783 CA2028830	131	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149773783 CA349998406	131	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	131	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028831 rs556440589	134	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349998422 rs1248753328	134	T>P		No	ClinGen gnomAD
CA349998428 rs1370418948	135	C>R		No	ClinGen TOPMed
CA2028832 rs752582477	135	C>Y		No	ClinGen ExAC gnomAD
CA349998443 rs1294650024	137	Q>R		No	ClinGen TOPMed
CA2028833 rs374270789	138	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777729730 CA2028834	140	G>A		No	ClinGen ExAC gnomAD
TCGA novel	140	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327662776 CA349998468	141	Q>E		No	ClinGen gnomAD
rs1343510368 CA349998471	141	Q>R		No	ClinGen TOPMed
rs757419361 CA2028836	142	G>E		No	ClinGen ExAC TOPMed gnomAD
rs114269469 CA2028835	142	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA349998490 rs1428855237	144	S>L		No	ClinGen TOPMed
rs1448626859 CA349998508	147	V>F		No	ClinGen TOPMed gnomAD
rs1448626859 CA349998507	147	V>L		No	ClinGen TOPMed gnomAD
CA2028837 rs781216528	150	L>V		No	ClinGen ExAC gnomAD
rs1004607593 CA62963164	151	A>P		No	ClinGen Ensembl
rs1347892476 CA349998553	154	S>N		No	ClinGen TOPMed gnomAD
rs146572537 CA2028839	155	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2028840 rs775970080	158	S>A		No	ClinGen ExAC gnomAD
rs1185893272 CA349998602	161	W>C		No	ClinGen TOPMed
rs769279160 CA2028842	164	H>L		No	ClinGen ExAC gnomAD
CA2028844 rs760044107	166	A>T		No	ClinGen ExAC gnomAD
CA349998641 rs1211249250	167	T>I		No	ClinGen gnomAD
rs1489952866 CA349998656	169	S>N		No	ClinGen TOPMed gnomAD
CA349998681 rs1264553926	172	S>T		No	ClinGen gnomAD
rs1489531986 CA349998695	174	S>F		No	ClinGen gnomAD
CA349998702 rs1191117103	176	A>T		No	ClinGen gnomAD
rs1473283573 CA349998721	179	G>S		No	ClinGen gnomAD
CA62963165 rs927076870	180	S>T		No	ClinGen TOPMed
rs555592626 CA2028850	182	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1014125 CA2028851 rs764007897	182	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371954830 CA2028855	185	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559228476 CA349998772	187	S>N		No	ClinGen Ensembl
CA62963166 rs756370760	188	S>N		No	ClinGen ExAC gnomAD
CA2028857 rs756370760	188	S>T		No	ClinGen ExAC gnomAD
CA2028861 rs769154499	190	A>E		No	ClinGen ExAC TOPMed gnomAD
CA349998793 rs1358224796	190	A>P		No	ClinGen gnomAD
CA2028860 rs769154499	190	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2028863 rs770297006	194	A>T		No	ClinGen ExAC gnomAD
CA349998821 rs1197319653	195	A>S		No	ClinGen gnomAD
rs1379859752 CA349998830	196	A>V		No	ClinGen TOPMed gnomAD
rs61748258 CA2028865	197	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2028866 rs373755744	198	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs762680820 CA2028868	201	E>G		No	ClinGen ExAC gnomAD
CA2028869 rs763883441	202	C>G		No	ClinGen ExAC gnomAD
rs751415504 CA2028870	202	C>S		No	ClinGen ExAC
CA349998865 rs1574426531	202	C>W		No	ClinGen Ensembl
rs1381875595 CA349998866	203	V>M		No	ClinGen gnomAD
rs1402357806 CA349998875	204	E>G		No	ClinGen TOPMed gnomAD
CA2028872 rs767391567	204	E>K		No	ClinGen ExAC gnomAD
COSM3709281 rs147170022 CA2028874	205	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2028873 rs199705631	205	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA349998884 rs1166808439	206	M>T		No	ClinGen gnomAD
rs367596026 CA2028875	206	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2028876 rs545451181	207	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs755353451 CA2028877	208	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1237580294 CA349998914	211	P>Q		No	ClinGen gnomAD
TCGA novel	213	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028878 rs779357621	214	D>E		No	ClinGen ExAC gnomAD
CA349998945 rs1380149938	215	L>F		No	ClinGen TOPMed
CA2028880 rs772600519	220	E>G		No	ClinGen ExAC gnomAD
rs1417058448 CA349999006	224	T>I		No	ClinGen gnomAD
rs778211635 CA2028881	224	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2028882 rs745371114	226	K>Q		No	ClinGen ExAC gnomAD
CA349999033 rs1460253832	228	L>S		No	ClinGen TOPMed
CA2028883 rs769308730	230	K>E		No	ClinGen ExAC gnomAD
CA349999046 rs775060146	230	K>I		No	ClinGen ExAC gnomAD
rs775060146 CA2028884	230	K>R		No	ClinGen ExAC gnomAD
CA62963173 rs996090671	233	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs762627880 CA2028885	235	I>V		No	ClinGen ExAC TOPMed gnomAD
CA349999085 rs1332921706	236	F>L		No	ClinGen gnomAD
CA62963174 rs887340081	237	E>A		No	ClinGen TOPMed gnomAD
CA2028887 rs201301653	239	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349999117 rs1189002128	240	D>G		No	ClinGen TOPMed
rs1024970469 CA62963175	240	D>N		No	ClinGen Ensembl
rs1053174 CA62963176	241	D>N		No	ClinGen Ensembl
rs1053175 CA62963178	244	H>R		No	ClinGen Ensembl
CA62963177 rs751648275	244	H>Y		No	ClinGen Ensembl
CA349999176 rs1424096194	248	E>A		No	ClinGen TOPMed
rs1053176 CA62963179	250	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	251	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349999205 rs1322870861	252	Y>S		No	ClinGen gnomAD
CA2028892 rs766590461	254	A>V		No	ClinGen ExAC TOPMed gnomAD
CA349999227 rs1220639055	255	I>M		No	ClinGen gnomAD
CA349999257 rs1260260563	260	D>N		No	ClinGen gnomAD
CA2028893 rs754074907	261	S>A		No	ClinGen ExAC gnomAD
CA2028895 rs755220736	262	K>Q		No	ClinGen ExAC gnomAD
rs1443024608 CA349999277	263	R>G		No	ClinGen Ensembl
TCGA novel	263	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA62963180 rs560393395	264	K>T		No	ClinGen 1000Genomes
CA2028896 rs765427235	267	K>R		No	ClinGen ExAC gnomAD
rs1359278243 CA349999324	269	L>P		No	ClinGen TOPMed
rs753091137 CA2028897	269	L>V		No	ClinGen ExAC gnomAD
rs747526401 CA2028900	271	L>F		No	ClinGen ExAC gnomAD
CA2028901 rs371357831	272	H>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	272	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028926 rs771862738	276	V>A		No	ClinGen ExAC gnomAD
CA349999386 rs1456117336	277	N>S		No	ClinGen gnomAD
CA2028929 rs369908630	281	A>G		No	ClinGen ESP ExAC gnomAD
CA2028930 rs369908630	281	A>V		No	ClinGen ESP ExAC gnomAD
rs1574450810 CA349999416	282	Q>P		No	ClinGen Ensembl
rs200503515 CA62964181	283	L>P		No	ClinGen 1000Genomes
rs759592025 CA2028932	284	C>Y		No	ClinGen ExAC gnomAD
rs372419239 CA2028934	285	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2028936 rs376970627	287	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376178546 CA62964182	289	A>T		No	ClinGen Ensembl
TCGA novel	289	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447801742 CA349999471	291	L>M		No	ClinGen TOPMed
rs933575178 CA62964183	292	T>S		No	ClinGen TOPMed gnomAD
rs1559238748 CA349999483	293	R>K		No	ClinGen Ensembl
CA349999544 rs1303462081	302	R>*		No	ClinGen gnomAD
rs767948922 CA349999546	302	R>P		No	ClinGen ExAC gnomAD
CA2028939 rs767948922	302	R>Q		No	ClinGen ExAC gnomAD
CA2028940 rs750910054	303	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA349999566 rs1377361140	305	S>F		No	ClinGen gnomAD
rs1314191971 CA349999563	305	S>P		No	ClinGen gnomAD
rs1254455639 CA349999568	306	R>G		No	ClinGen TOPMed
rs754464590 CA2028941	306	R>Q		No	ClinGen ExAC gnomAD
CA349999598 rs1338467966	310	Y>*		No	ClinGen gnomAD
CA349999612 rs1282089460	312	Y>C		No	ClinGen gnomAD
rs889137745 CA62964184	314	Y>C		No	ClinGen Ensembl
CA349999646 rs199997143	317	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2028942 rs199997143	317	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	319	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2028972 rs200990302	321	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349999683 rs1424608337	321	C>Y		No	ClinGen gnomAD
CA349999700 rs1411806647	323	E>D		No	ClinGen gnomAD
CA62964448 rs553542478	327	L>S		No	ClinGen Ensembl
CA62964449 rs772549387	328	S>C		No	ClinGen Ensembl
rs1292397256 CA349999737	329	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA349999741 rs1326669015	329	P>L		No	ClinGen gnomAD
CA349999738 rs1292397256	329	P>S		No	ClinGen TOPMed
rs1342166778 CA349999747	330	K>R		No	ClinGen TOPMed
rs1334302038 CA349999762	332	I>T		No	ClinGen TOPMed
CA2028973 rs745712986	333	K>N		No	ClinGen ExAC TOPMed gnomAD
CA62964451 rs949810086	334	V>M		No	ClinGen TOPMed
CA349999801 rs1262563335	336	D>E		No	ClinGen gnomAD
CA349999798 rs1222388981	336	D>G		No	ClinGen gnomAD
rs762494622 CA2028992	340	D>E		No	ClinGen ExAC gnomAD
CA349999822 rs1559251392	340	D>N		No	ClinGen Ensembl
rs1216883872 CA349999843	342	Q>H		No	ClinGen TOPMed
CA2028993 rs763718186	344	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	346	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349999873 rs1383141107	347	T>A		No	ClinGen gnomAD
CA2028995 rs756937100	347	T>I		No	ClinGen ExAC gnomAD
CA349999881 rs1159151062	348	L>P		No	ClinGen gnomAD
CA349999891 rs1316974470	350	Q>K		No	ClinGen gnomAD
rs1559251546 CA349999927	355	K>E		No	ClinGen Ensembl
CA2028999 rs779803171	355	K>N		No	ClinGen ExAC gnomAD
TCGA novel	359	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349999966 rs1380994156	360	A>E		No	ClinGen gnomAD
rs1574477151 CA349999973	361	A>V		No	ClinGen Ensembl
rs1261847850 CA349999975	362	L>I		No	ClinGen gnomAD
CA349999982 rs1353417068	363	S>G		No	ClinGen gnomAD
CA2029011 rs745702952	367	P>S		No	ClinGen ExAC gnomAD
rs1261527622 CA350000030	368	E>K		No	ClinGen gnomAD
CA2029013 rs773974370	370	V>M		No	ClinGen ExAC
CA2029014 rs761463081	371	M>K		No	ClinGen ExAC TOPMed gnomAD
CA2029015 rs761463081	371	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2029016 rs750107656	373	K>R		No	ClinGen ExAC gnomAD
rs1180956440 CA350000085	375	M>I		No	ClinGen gnomAD
CA350000097 rs1222945608	377	F>L		No	ClinGen TOPMed
CA350000105 rs1429435888	378	L>F		No	ClinGen gnomAD
rs1173580833 CA350000121	380	N>S		No	ClinGen gnomAD
CA62965573 rs994242632	381	Q>R		No	ClinGen TOPMed
rs1462127540 CA350000141	383	G>A		No	ClinGen TOPMed gnomAD
CA2029018 rs766230360 COSM350530	384	Y>C	lung liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs754889514 CA2029020	386	R>G		No	ClinGen ExAC gnomAD
rs778881617 CA2029021	386	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748221758 CA2029022	389	H>D		No	ClinGen ExAC TOPMed gnomAD
CA2029023 rs758510178	389	H>L		No	ClinGen ExAC TOPMed gnomAD
rs758510178 CA350000180	389	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2029025 rs747277215	390	A>T		No	ClinGen ExAC gnomAD
CA62965574 rs954973214	391	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746280740 CA2029028	393	R>G		No	ClinGen ExAC
rs543055529 CA62965575	393	R>K		No	ClinGen Ensembl
CA2029029 rs770408300	393	R>S		No	ClinGen ExAC gnomAD
CA62965576 rs986574006	395	S>P		No	ClinGen TOPMed
rs986574006 CA350000213	395	S>T		No	ClinGen TOPMed
rs1157016064 CA350000220	396	A>T		No	ClinGen TOPMed
CA2029030 rs776201507	398	L>I		No	ClinGen ExAC gnomAD
CA2029032 rs771638155	400	R>T		No	ClinGen ExAC TOPMed gnomAD
CA2029033 rs772703768	401	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA2029034 rs147122220	404	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs765999756 CA2029035	404	E>V		No	ClinGen ExAC gnomAD
rs1375192373 CA350000296	407	S>I		No	ClinGen TOPMed gnomAD
rs1375192373 CA350000295	407	S>N		No	ClinGen TOPMed gnomAD
rs199763899 COSM1614061 CA2029038	410	G>S	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs752643827 CA2029039	411	L>F		No	ClinGen ExAC gnomAD
CA350000330 rs1366955779	412	T>I		No	ClinGen gnomAD
rs1301444239 CA350000327	412	T>S		No	ClinGen gnomAD
CA2029040 rs370918749	413	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs914250140 CA62965578	414	D>G		No	ClinGen TOPMed gnomAD
CA2029041 rs777938240	414	D>N		No	ClinGen ExAC TOPMed gnomAD
rs777938240 CA2029042	414	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA350000346 rs1292156410	415	N>I		No	ClinGen gnomAD
rs556695533 CA2029044	417	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2029045 rs746227413	418	G>R		No	ClinGen ExAC TOPMed gnomAD
CA350000369 rs1259276016	419	Q>K		No	ClinGen TOPMed gnomAD
rs148222259 CA2029047	420	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA350000392 rs1420141786	421	E>K		No	ClinGen gnomAD
CA350000406 rs1241440981	422	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	425	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350000424 rs1161448503	425	N>S		No	ClinGen gnomAD
CA350000433 rs1343503538	426	L>R		No	ClinGen TOPMed gnomAD
rs550425927 CA350000437	427	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2029060 rs550425927	427	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781493453 CA2029061	429	P>S		No	ClinGen ExAC gnomAD
rs367994984 CA2029062	430	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA350000470 rs1450224197	432	Q>R		No	ClinGen gnomAD
CA2029063 rs150743979	433	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350000509 rs1225386199	437	H>Q		No	ClinGen TOPMed gnomAD
CA350000511 rs1188780977	438	H>D		No	ClinGen TOPMed
rs780538883 CA2029064	438	H>P		No	ClinGen ExAC gnomAD
CA2029065 rs749666243	439	F>S		No	ClinGen ExAC gnomAD
CA350000527 rs1264649142	440	V>A		No	ClinGen TOPMed gnomAD
rs769196483 CA2029066	440	V>M		No	ClinGen ExAC gnomAD
CA2029067 rs149505976	441	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746463160 CA2029068	442	D>G		No	ClinGen ExAC gnomAD
rs1237250408 CA350000548	444	E>*		No	ClinGen gnomAD
rs886760584 CA62965722	445	L>P		No	ClinGen TOPMed gnomAD
rs1211588123 CA350000569	447	R>K		No	ClinGen gnomAD
CA2029070 rs770441592	448	L>I		No	ClinGen ExAC TOPMed gnomAD
rs770441592 CA2029069	448	L>V		No	ClinGen ExAC TOPMed gnomAD
rs950147178 CA62965723	449	Y>F		No	ClinGen TOPMed gnomAD
rs368539808 CA2029071	449	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2029073 rs775331301	451	S>G		No	ClinGen ExAC gnomAD
rs372639180 CA62965725	452	E>G		No	ClinGen ESP
CA350000607 rs377104010	453	A>E		No	ClinGen ESP ExAC gnomAD
CA2029074 rs377104010	453	A>V		No	ClinGen ESP ExAC gnomAD
CA350000610 rs1333336581	454	K>E		No	ClinGen TOPMed gnomAD
rs1559255320 CA350000621	455	S>C		No	ClinGen Ensembl
rs764085929 CA2029075	456	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA62965726 rs964214232	457	S>*		No	ClinGen TOPMed gnomAD
CA2029093 rs768344956	459	E>D		No	ClinGen ExAC TOPMed gnomAD
rs774292732 CA2029094	460	S>R		No	ClinGen ExAC gnomAD
CA350000663 rs1294098812	460	S>T		No	ClinGen gnomAD
CA350000688 rs1574490409	464	L>S		No	ClinGen Ensembl
CA2029095 rs761814168	464	L>V		No	ClinGen ExAC gnomAD
rs1235911185 CA350000721	468	P>L		No	ClinGen TOPMed
CA2029096 rs767613737	470	S>L		No	ClinGen ExAC gnomAD
rs1465241971 CA350000738	471	A>V		No	ClinGen gnomAD
CA350000754 rs1476478814	473	T>I		No	ClinGen gnomAD
rs1242916825 CA350000749	473	T>P		No	ClinGen gnomAD
rs1275990704 CA350000759	474	L>*		No	ClinGen TOPMed
rs760908104 CA2029098	476	K>E		No	ClinGen ExAC gnomAD
CA62966040 rs747725013	477	K>N		No	ClinGen TOPMed gnomAD
CA2029099 rs766557187	478	V>I		No	ClinGen ExAC gnomAD
rs1404275911 CA350000789	479	I>V		No	ClinGen gnomAD
rs1318334018 CA350000800	480	K>R		No	ClinGen gnomAD
rs754019617 CA2029100	481	T>I		No	ClinGen ExAC gnomAD
rs369917088 CA2029102	483	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753144041 CA2029103	486	S>*		No	ClinGen ExAC gnomAD
CA2029104 rs758881315	488	R>E		No	ClinGen ExAC
CA350000851 rs758881315	488	R>Q		No	ClinGen ExAC
CA62966041 rs911852316	488	R>W		No	ClinGen TOPMed
rs1317809173 CA350000854	488	R>Y		No	ClinGen gnomAD

No associated diseases with Q13506

3 regional properties for Q13506

Type	Name	Position	InterPro Accession
domain	Nab1, C-terminal	322 - 486	IPR006986
domain	Nab, N-terminal	6 - 83	IPR006988
domain	NAB co-repressor, domain	191 - 317	IPR006989

Functions

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

2 GO annotations of cellular component

Name	Definition
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.

1 GO annotations of molecular function

Name	Definition
transcription coregulator activity	A transcription regulator activity that modulates 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. Coregulators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators 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.

6 GO annotations of biological process

Name	Definition
endochondral ossification	Replacement ossification wherein bone tissue replaces cartilage.
myelination	The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of epidermis development	Any process that modulates the frequency, rate or extent of epidermis development.
Schwann cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a Schwann cell. Schwann cells are found in the peripheral nervous system, where they insulate neurons and axons, and regulate the environment in which neurons function.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q15742	NAB2	NGFI-A-binding protein 2	Homo sapiens (Human)	PR
Q61127	Nab2	NGFI-A-binding protein 2	Mus musculus (Mouse)	PR
Q61122	Nab1	NGFI-A-binding protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAALPRTLG	ELQLYRILQK	ANLLSYFDAF	IQQGGDDVQQ	LCEAGEEEFL	EIMALVGMAS
70	80	90	100	110	120
KPLHVRRLQK	ALRDWVTNPG	LFNQPLTSLP	VSSIPIYKLP	EGSPTWLGIS	CSSYERSSNA
130	140	150	160	170	180
REPHLKIPKC	AATTCVQSLG	QGKSDVVGSL	ALQSVGESRL	WQGHHATESE	HSLSPADLGS
190	200	210	220	230	240
PASPKESSEA	LDAAAALSVA	ECVERMAPTL	PKSDLNEVKE	LLKTNKKLAK	MIGHIFEMND
250	260	270	280	290	300
DDPHKEEEIR	KYSAIYGRFD	SKRKDGKHLT	LHELTVNEAA	AQLCVKDNAL	LTRRDELFAL
310	320	330	340	350	360
ARQISREVTY	KYTYRTTKSK	CGERDELSPK	RIKVEDGFPD	FQDSVQTLFQ	QARAKSEELA
370	380	390	400	410	420
ALSSQQPEKV	MAKQMEFLCN	QAGYERLQHA	ERRLSAGLYR	QSSEEHSPNG	LTSDNSDGQG
430	440	450	460	470	480
ERPLNLRMPN	LQNRQPHHFV	VDGELSRLYP	SEAKSHSSES	LGILKDYPHS	AFTLEKKVIK

TEPEDSR