AiPD: Autoinhibited Protein Database

Q15306

Gene name	IRF4 (MUM1)
Protein name	Interferon regulatory factor 4
Names	IRF-4, Lymphocyte-specific interferon regulatory factor, LSIRF, Multiple myeloma oncogene 1, NF-EM5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3662
EC number
Protein Class

Descriptions

IRF4 is a transcription factor regulating immune cell development, obesity-induced inflammation, and so forth. As discovered in mouse Irf4 (Q64287), the C-terminal region of the protein may interact with the DNA-binding domain of IRF4 for autoinhibition.

Autoinhibitory domains (AIDs)

421-451 (C-terminal autoinhibitory region) SS

Target domain	249-418 (IFN association domain)
Relief mechanism	PTM
Assay

AID

421-451 (C-terminal autoinhibitory region)

Target domain

249-418 (IFN association domain)

Relief mechanism

PTM (Phosphorylation in autoinhibitory region)

Assay

Accessory elements

No accessory elements

References

Remesh SG et al. (2015) "Structural Studies of IRF4 Reveal a Flexible Autoinhibitory Region and a Compact Linker Domain", The Journal of biological chemistry, 290, 27779-90

Brass AL et al. (1999) "Assembly requirements of PU.1-Pip (IRF-4) activator complexes: inhibiting function in vivo using fused dimers", The EMBO journal, 18, 977-91

Brass AL et al. (1996) "Pip, a lymphoid-restricted IRF, contains a regulatory domain that is important for autoinhibition and ternary complex formation with the Ets factor PU.1", Genes & development, 10, 2335-47

Sathish N et al. (2011) "Mechanisms of autoinhibition of IRF-7 and a probable model for inactivation of IRF-7 by Kaposi's sarcoma-associated herpesvirus protein ORF45", The Journal of biological chemistry, 286, 746-56

Ning S et al. (2011) "IRF7: activation, regulation, modification and function", Genes and immunity, 12, 399-414

Lin R et al. (1999) "Structural and functional analysis of interferon regulatory factor 3: localization of the transactivation and autoinhibitory domains", Molecular and cellular biology, 19, 2465-74

Shah M et al. (2015) "In silico mechanistic analysis of IRF3 inactivation and high-risk HPV E6 species-dependent drug response", Scientific reports, 5, 13446

Liu S et al. (2015) "Phosphorylation of innate immune adaptor proteins MAVS, STING, and TRIF induces IRF3 activation", Science (New York, N.Y.), 347, aaa2630

Barnes BJ et al. (2002) "Multiple regulatory domains of IRF-5 control activation, cellular localization, and induction of chemokines that mediate recruitment of T lymphocytes", Molecular and cellular biology, 22, 5721-40

Autoinhibited structure

Activated structure

8 structures for Q15306

Entry ID	Method	Resolution	Chain	Position	Source
2DLL	NMR	-	A	23-130	PDB
6TD4	X-ray	171 A	A	20-132	PDB
7JM4	X-ray	295 A	A/B/G/H	21-129	PDB
7O56	X-ray	260 A	A/B/C	20-139	PDB
7OGS	X-ray	237 A	A/B/E/F	20-139	PDB
7OOT	X-ray	225 A	A/B	20-139	PDB
7RH2	X-ray	247 A	A/B/G/H	21-129	PDB
AF-Q15306-F1	Predicted				AlphaFoldDB

235 variants for Q15306

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000714777 CA133337128 rs901736609	363	Q>H	Skin/hair/eye pigmentation, variation in, 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM220747 rs891224445 CA133328978	2	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1452883883 CA362546230	4	E>*		No	ClinGen gnomAD
CA362546232 rs1581220805	4	E>G		No	ClinGen Ensembl
CA133329000 rs564941413	5	G>D		No	ClinGen Ensembl
rs1296646377 CA362546242	6	G>R		No	ClinGen gnomAD
rs769695946 CA3612604	7	G>D		No	ClinGen ExAC TOPMed gnomAD
CA362546252 rs1251757585	8	R>G		No	ClinGen gnomAD
rs139884486 CA3612606	8	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3612605 rs139884486	8	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1581220840 CA362546259	9	G>D		No	ClinGen Ensembl
rs1285362149 CA362546255	9	G>S		No	ClinGen TOPMed
rs1403333371 CA362546261	10	G>R		No	ClinGen TOPMed
rs546956488 CA133329015	12	F>L		No	ClinGen 1000Genomes TOPMed
CA362546293 rs1265068205	14	M>R		No	ClinGen gnomAD
rs1343907006 CA362546318	18	S>G		No	ClinGen TOPMed
rs1000698747 CA362546321	18	S>I		No	ClinGen TOPMed gnomAD
rs1000698747 CA133329066 COSM1731950	18	S>N	NS [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM220626 CA362546320 rs1000698747	18	S>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs538907751 CA3612611	35	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1581220917 CA362546448	36	K>T		No	ClinGen Ensembl
CA3612613 rs755738102	38	P>L		No	ClinGen ExAC
CA3612612 rs369688140	38	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230948269 CA362546468	39	G>E		No	ClinGen gnomAD
CA3612615 rs751037944	41	V>L		No	ClinGen ExAC gnomAD
CA362546489 rs1208372867	42	W>*		No	ClinGen gnomAD
CA133329147 rs934099606	45	E>Q		No	ClinGen TOPMed
rs780297970 CA3612618	46	E>K		No	ClinGen ExAC gnomAD
rs1431984073 CA362546524	47	K>R		No	ClinGen TOPMed gnomAD
rs781441118 CA3612621	53	P>H		No	ClinGen ExAC
CA133329252 rs868350590	66	E>G		No	ClinGen Ensembl
rs1286533547 CA362546707	72	K>R		No	ClinGen gnomAD
CA362546788 rs1302327519	82	R>*		No	ClinGen gnomAD
rs1377317453 CA362546789	82	R>Q		No	ClinGen gnomAD
rs1454761481 CA362546812	85	I>M		No	ClinGen gnomAD
rs144593192 CA3612651	88	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs202124383 CA362546831	88	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3612652 rs202124383	88	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA133330899 rs144593192	88	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA362546838 rs1226872247	89	D>E		No	ClinGen gnomAD
CA362546866 rs1303460354	93	W>C		No	ClinGen TOPMed
CA362546881 COSM1173222 rs1459743512	96	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3612657 COSM1754738 rs767879003	100	A>T	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773571916 CA133330921	105	N>D		No	ClinGen Ensembl
rs200303421 CA3612658	105	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3612660 rs374588785	110	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs944381620 CA133330939	113	R>Q		No	ClinGen Ensembl
rs753842732 COSM1162263 CA3612661	113	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1320369594 CA362547049	120	D>E		No	ClinGen TOPMed
rs745876631 CA3612664	126	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1272287601 CA362547103	128	V>D		No	ClinGen gnomAD
rs771936972 CA3612665	128	V>I		No	ClinGen ExAC gnomAD
CA362547139 rs1320732051	134	K>E		No	ClinGen gnomAD
CA3612686 rs758443557	136	A>V		No	ClinGen ExAC gnomAD
CA3612687 rs780187356	137	K>N		No	ClinGen ExAC gnomAD
CA362547177 rs1490819568	138	Q>*		No	ClinGen gnomAD
CA3612689 rs754886586	139	L>V		No	ClinGen ExAC gnomAD
CA3612691 rs11557493	141	L>V		No	ClinGen ExAC gnomAD
rs769115445 CA3612692	144	P>L		No	ClinGen ExAC gnomAD
CA3612694 rs115613112	146	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362547245 rs1300078693	148	M>T		No	ClinGen gnomAD
rs1406059165 CA362547242	148	M>V		No	ClinGen gnomAD
CA3612695 rs73717071	149	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA133331838 rs201185528	150	H>Y		No	ClinGen 1000Genomes
rs1351148355 CA362547266	151	P>S		No	ClinGen TOPMed gnomAD
rs1289314958 CA362547274	152	Y>C		No	ClinGen TOPMed gnomAD
rs1245046920 CA362547271	152	Y>H		No	ClinGen gnomAD
CA362547284 rs764577689	154	M>L		No	ClinGen ExAC TOPMed gnomAD
rs764577689 CA3612698	154	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1368848977 CA362547294	155	T>K		No	ClinGen TOPMed
CA3612699 rs776661032	155	T>P		No	ClinGen ExAC gnomAD
rs755460615 CA3612700	156	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3612702 rs750505973	158	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1561712197 CA362547318	159	P>H		No	ClinGen Ensembl
CA362547324 rs1472591082	160	S>L		No	ClinGen gnomAD
CA3612705 rs766413794	162	P>A		No	ClinGen ExAC gnomAD
rs1236751116 CA362547374	166	V>I		No	ClinGen TOPMed
rs767166788 CA3612726	167	H>Q		No	ClinGen ExAC gnomAD
rs200611169 CA133332948	167	H>R		No	ClinGen 1000Genomes TOPMed
rs1301653439 CA362547393	169	Y>H		No	ClinGen TOPMed
CA362547406 rs1324660759	170	M>I		No	ClinGen gnomAD
CA362547414 rs1270868534	171	M>I		No	ClinGen gnomAD
CA3612728 rs755905242	171	M>T		No	ClinGen ExAC gnomAD
rs1236233284 CA362547410	171	M>V		No	ClinGen TOPMed
rs777399667 CA3612729	172	P>Q		No	ClinGen ExAC gnomAD
rs1322864517 CA362547419	172	P>S		No	ClinGen gnomAD
rs1581224450 CA362547433	174	L>R		No	ClinGen Ensembl
rs1461930692 CA362547434 COSM3830471	175	D>N	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3612731 rs756699452	176	R>*		No	ClinGen ExAC
rs999945656 CA133332970 COSM1179728	176	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1260048530 CA362547475	180	D>E		No	ClinGen gnomAD
CA3612732 rs778403209	180	D>G		No	ClinGen ExAC gnomAD
CA3612733 rs747437180	181	Y>C		No	ClinGen ExAC gnomAD
rs866516667 CA133332974	181	Y>H		No	ClinGen TOPMed
COSM2153954 rs781586995 CA3612735	182	V>I	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3612737 rs770110760 COSM1546336	185	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1431065750 CA362547513	186	P>L		No	ClinGen gnomAD
CA362547518 rs1322810804	187	H>R		No	ClinGen TOPMed gnomAD
CA362547527 rs1469969945	188	P>L		No	ClinGen TOPMed gnomAD
rs771094772 CA3612740	190	I>N		No	ClinGen ExAC gnomAD
rs763272146 CA3612739	190	I>V		No	ClinGen ExAC gnomAD
CA3612741 rs774593906	191	P>S		No	ClinGen ExAC gnomAD
CA362547563 rs1393717852	194	C>R		No	ClinGen TOPMed
rs1285265620 CA362547577	196	M>V		No	ClinGen TOPMed gnomAD
CA3612744 rs372869810	197	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs372869810 CA362547589	197	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3612746 rs763891187	198	F>S		No	ClinGen ExAC gnomAD
rs1487028591 CA362547605	200	P>S		No	ClinGen gnomAD
rs1206239895 CA362547611	201	R>C		No	ClinGen TOPMed gnomAD
CA3612747 rs753427028 COSM1079040	201	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753427028 CA362547613	201	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM321045 rs143144957 CA3612749	202	G>S	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1270389563 CA362547668	207	G>S		No	ClinGen gnomAD
CA3612751 rs757910134	208	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs893823313 CA133334351	213	G>V		No	ClinGen TOPMed
rs538810711 CA3612778	214	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293066909 CA362547917	216	V>M		No	ClinGen gnomAD
rs746092245 CA3612779	217	T>R		No	ClinGen ExAC gnomAD
CA362547989 rs1561714266	224	A>T		No	ClinGen Ensembl
CA362547996 rs1321465734	225	P>T		No	ClinGen gnomAD
CA3612780 rs147454166	230	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA133334373 rs62389395	230	A>V		No	ClinGen Ensembl
rs375133421 CA3612782	232	G>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs761579830 CA3612785	233	V>A		No	ClinGen ExAC gnomAD
rs776593233 CA3612784	233	V>I		No	ClinGen ExAC gnomAD
rs1561714310 CA362548102	234	P>H		No	ClinGen Ensembl
CA3612786 rs765027259	235	T>K		No	ClinGen ExAC gnomAD
rs149628278 CA133334433	239	I>V		No	ClinGen ESP
rs772851591 CA362548185	242	A>S		No	ClinGen ExAC gnomAD
rs772851591 CA3612787	242	A>T		No	ClinGen ExAC gnomAD
CA133334442 rs991648246	242	A>V		No	ClinGen gnomAD
CA362548194 COSM1079069 rs1356308443	243	E>K	endometrium central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3612789 rs765864636	245	L>F		No	ClinGen ExAC gnomAD
CA362548240 rs751010198	246	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM1079070 CA3612790 rs751010198	246	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758839744 CA3612814	249	D>E		No	ClinGen ExAC gnomAD
rs199834880 CA133336799	251	R>Q		No	ClinGen gnomAD
rs1198842534 CA362548616	254	I>V		No	ClinGen gnomAD
rs148760922 CA3612816	256	L>M		No	ClinGen ESP ExAC gnomAD
CA133336836 rs975308028	257	Y>F		No	ClinGen TOPMed gnomAD
rs781276700 CA3612818	259	R>Q		No	ClinGen ExAC gnomAD
CA362548679 rs1407719860	259	R>W		No	ClinGen TOPMed gnomAD
rs752393433 CA3612824	272	E>K		No	ClinGen ExAC gnomAD
CA3612827 rs139858073	275	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs771669183 CA3612826 COSM170244	275	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3612829 rs765634575	278	H>Y		No	ClinGen ExAC gnomAD
CA362548822 rs1446497140	279	G>R		No	ClinGen TOPMed
rs751008894 CA3612830	281	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3612833 rs114916515	283	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767774669 CA362548857	284	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767774669 CA3612835	284	A>T		No	ClinGen ExAC TOPMed gnomAD
CA362548858 rs1323096518	284	A>V		No	ClinGen TOPMed gnomAD
rs1179357950 CA362548889	288	D>E		No	ClinGen gnomAD
CA362548896 rs1222738803	289	Q>H		No	ClinGen gnomAD
rs1224284590 CA362548928	294	Y>C		No	ClinGen TOPMed
rs1356593229 CA362548937	296	E>K		No	ClinGen TOPMed
CA3612836 rs140099868	298	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050972 CA133336939	300	Q>H		No	ClinGen Ensembl
rs756281792 CA3612837	304	I>T		No	ClinGen ExAC gnomAD
CA362549033 rs1302019454	309	S>R		No	ClinGen TOPMed
CA133336967 rs780902340	315	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3612840 rs780902340	315	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3612842 rs745470687	317	L>I		No	ClinGen ExAC gnomAD
CA133337034 rs775326241	320	A>D		No	ClinGen ExAC TOPMed gnomAD
CA3612844 rs775326241	320	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1210576093 CA362549113	322	D>N		No	ClinGen TOPMed gnomAD
CA3612847 rs773521348	325	Y>C		No	ClinGen ExAC gnomAD
CA3612848 rs201105575	326	A>V		No	ClinGen ExAC TOPMed gnomAD
CA133337073 rs1050974	333	R>T		No	ClinGen Ensembl
CA362549241 rs1182121626	338	G>R		No	ClinGen gnomAD
rs1581227987 CA362549251	339	P>T		No	ClinGen Ensembl
CA3612852 rs200311468	341	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA133337105 rs888989341	342	L>P		No	ClinGen TOPMed
rs756088477 CA3612854	344	N>H		No	ClinGen ExAC gnomAD
rs753680565 CA3612856	345	D>N		No	ClinGen ExAC TOPMed gnomAD
CA362549332 rs1400777715	346	R>G		No	ClinGen TOPMed gnomAD
CA3612857 COSM1079083 rs199596593	346	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1400777715 CA362549334	346	R>W		No	ClinGen TOPMed gnomAD
CA362549353 rs1334437649	348	N>H		No	ClinGen gnomAD
CA362549359 rs1561716191	348	N>T		No	ClinGen Ensembl
rs199919569 CA3612859	353	D>E		No	ClinGen ExAC TOPMed gnomAD
CA362549454 rs1343858008	355	T>A		No	ClinGen TOPMed
CA3612860 rs555752097	357	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3612861 rs779841481	362	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1380305124 CA362549560	366	S>L		No	ClinGen gnomAD
rs568315642 CA362550136	370	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1049908319 CA133339845	370	A>T		No	ClinGen TOPMed
rs568315642 CA3612886	370	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1581230749 CA362550203	373	H>P		No	ClinGen Ensembl
rs775948276 CA3612888	373	H>Q		No	ClinGen ExAC gnomAD
rs1169247876 CA362550246	375	G>S		No	ClinGen gnomAD
CA3612890 rs768893830	376	R>C		No	ClinGen ExAC TOPMed gnomAD
rs377483798 CA3612891	376	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377483798 CA362550262	376	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377483798 CA3612892	376	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA362550291 rs1421475486	378	L>Q		No	ClinGen gnomAD
rs1159107414 CA362550305	379	P>T		No	ClinGen gnomAD
CA3612894 rs750322004	382	Q>H		No	ClinGen ExAC gnomAD
CA362550348 rs1413303208	382	Q>R		No	ClinGen TOPMed gnomAD
rs142143231 CA133339878	384	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142143231 CA3612895	384	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3612897 rs751335149	390	E>D		No	ClinGen ExAC TOPMed gnomAD
rs201428294 CA3612898	394	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201428294 CA3612899	394	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA362550703 rs141640145	404	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357924165 CA362550696	404	H>Y		No	ClinGen TOPMed gnomAD
rs199763142 CA3612935	411	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1301548815 CA362550845	412	Q>L		No	ClinGen TOPMed
rs1400229165 CA362550860	414	Y>H		No	ClinGen gnomAD
CA362550969 rs1220781475	422	G>R		No	ClinGen gnomAD
CA133342220 rs867625247	423	H>N		No	ClinGen Ensembl
CA3612938 rs760504688	424	F>L		No	ClinGen ExAC TOPMed gnomAD
rs763733876 CA3612939	425	L>V		No	ClinGen ExAC gnomAD
rs1214308590 CA362551027	427	G>A		No	ClinGen gnomAD
CA362551025 rs1581232368	427	G>C		No	ClinGen Ensembl
CA133342226 rs934318315	428	Y>C		No	ClinGen Ensembl
rs1227685527 CA362551039	429	D>G		No	ClinGen TOPMed gnomAD
CA133342229 rs908661692	429	D>N		No	ClinGen TOPMed gnomAD
rs756736434 CA3612941	434	I>F		No	ClinGen ExAC TOPMed gnomAD
CA133342244 rs892912014	434	I>M		No	ClinGen Ensembl
CA362551074 rs756736434	434	I>V		No	ClinGen ExAC TOPMed gnomAD
CA133342259 rs1011269643	437	P>L		No	ClinGen TOPMed
rs1488875183 CA362551133	439	D>G		No	ClinGen TOPMed
rs1160900661 CA362551144	440	Y>F		No	ClinGen gnomAD
CA362551138 rs1438413858	440	Y>N		No	ClinGen gnomAD
rs752069005 CA3612944	441	H>L		No	ClinGen ExAC TOPMed gnomAD
CA133342303 rs752069005	441	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1322275605 CA362551176	443	S>C		No	ClinGen gnomAD
CA3612946 rs559734928	444	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748516736 CA3612947	445	R>C		No	ClinGen ExAC gnomAD
CA3612948 rs756602021	445	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756602021 CA3612949	445	R>L		No	ClinGen ExAC TOPMed gnomAD
CA362551192 rs1237888981	446	H>Y		No	ClinGen gnomAD
CA3612950 rs749474191	447	S>F		No	ClinGen ExAC TOPMed gnomAD
CA362551231 rs1354319999	448	S>F		No	ClinGen gnomAD

1 associated diseases with Q15306

[MIM: 254500]: Multiple myeloma (MM)

A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:9326949}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving IRF4 has been found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus.

Without disease ID

A malignant tumor of plasma cells usually arising in the bone marrow and characterized by diffuse involvement of the skeletal system, hyperglobulinemia, Bence-Jones proteinuria and anemia. Complications of multiple myeloma are bone pain, hypercalcemia, renal failure and spinal cord compression. The aberrant antibodies that are produced lead to impaired humoral immunity and patients have a high prevalence of infection. Amyloidosis may develop in some patients. Multiple myeloma is part of a spectrum of diseases ranging from monoclonal gammopathy of unknown significance (MGUS) to plasma cell leukemia. {ECO:0000269|PubMed:9326949}. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving IRF4 has been found in multiple myeloma. Translocation t(6;14)(p25;q32) with the IgH locus.

5 regional properties for Q15306

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	87 - 339	IPR000719
active_site	Serine/threonine-protein kinase, active site	206 - 218	IPR008271
binding_site	Protein kinase, ATP binding site	93 - 116	IPR017441
domain	AMPK, C-terminal adenylate sensor domain	464 - 554	IPR032270
domain	PRKAA1/2, autoinhibitory domain	359 - 406	IPR049020

Functions

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

6 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.

7 GO annotations of molecular function

Name	Definition
DNA-binding transcription activator activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that activates or increases transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription factor activity	A transcription regulator activity that modulates transcription of gene sets via selective and non-covalent binding to a specific double-stranded genomic DNA sequence (sometimes referred to as a motif) within a cis-regulatory region. Regulatory regions include promoters (proximal and distal) and enhancers. Genes are transcriptional units, and include bacterial operons.
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.
transcription coactivator activity	A transcription coregulator activity that activates or increases 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. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators 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. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.

18 GO annotations of biological process

Name	Definition
defense response to protozoan	Reactions triggered in response to the presence of a protozoan that act to protect the cell or organism.
histone H3 acetylation	The modification of histone H3 by the addition of an acetyl group.
histone H4 acetylation	The modification of histone H4 by the addition of an acetyl group.
immune system process	Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.
myeloid dendritic cell differentiation	The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin.
negative regulation of toll-like receptor signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor signaling pathway.
positive regulation of cold-induced thermogenesis	Any process that activates or increases the frequency, rate or extent of cold-induced thermogenesis.
positive regulation of DNA binding	Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid).
positive regulation of interleukin-10 production	Any process that activates or increases the frequency, rate, or extent of interleukin-10 production.
positive regulation of interleukin-13 production	Any process that activates or increases the frequency, rate, or extent of interleukin-13 production.
positive regulation of interleukin-2 production	Any process that activates or increases the frequency, rate, or extent of interleukin-2 production.
positive regulation of interleukin-4 production	Any process that activates or increases the frequency, rate, or extent of interleukin-4 production.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
regulation of T-helper cell differentiation	Any process that modulates the frequency, rate or extent of T-helper cell differentiation.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
T cell activation	The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
T-helper 17 cell lineage commitment	The process in which a CD4-positive, alpha-beta T cell becomes committed to becoming a T-helper 17 cell, a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q00978	IRF9	Interferon regulatory factor 9	Homo sapiens (Human)	PR
Q13568	IRF5	Interferon regulatory factor 5	Homo sapiens (Human)	EV
Q14653	IRF3	Interferon regulatory factor 3	Homo sapiens (Human)	EV
Q92985	IRF7	Interferon regulatory factor 7	Homo sapiens (Human)	EV
Q02556	IRF8	Interferon regulatory factor 8	Homo sapiens (Human)	PR
Q64287	Irf4	Interferon regulatory factor 4	Mus musculus (Mouse)	EV

10	20	30	40	50	60
MNLEGGGRGG	EFGMSAVSCG	NGKLRQWLID	QIDSGKYPGL	VWENEEKSIF	RIPWKHAGKQ
70	80	90	100	110	120
DYNREEDAAL	FKAWALFKGK	FREGIDKPDP	PTWKTRLRCA	LNKSNDFEEL	VERSQLDISD
130	140	150	160	170	180
PYKVYRIVPE	GAKKGAKQLT	LEDPQMSMSH	PYTMTTPYPS	LPAQQVHNYM	MPPLDRSWRD
190	200	210	220	230	240
YVPDQPHPEI	PYQCPMTFGP	RGHHWQGPAC	ENGCQVTGTF	YACAPPESQA	PGVPTEPSIR
250	260	270	280	290	300
SAEALAFSDC	RLHICLYYRE	ILVKELTTSS	PEGCRISHGH	TYDASNLDQV	LFPYPEDNGQ
310	320	330	340	350	360
RKNIEKLLSH	LERGVVLWMA	PDGLYAKRLC	QSRIYWDGPL	ALCNDRPNKL	ERDQTCKLFD
370	380	390	400	410	420
TQQFLSELQA	FAHHGRSLPR	FQVTLCFGEE	FPDPQRQRKL	ITAHVEPLLA	RQLYYFAQQN
430	440	450
SGHFLRGYDL	PEHISNPEDY	HRSIRHSSIQ	E