Reviewed, UniProtKB/Swiss-Prot Q15306 (IRF4_HUMAN)

Names and origin

Protein names

Recommended name:
    Interferon regulatory factor 4
      Short name=IRF-4
Alternative name(s):
    Lymphocyte-specific interferon regulatory factor
      Short name=LSIRF
    NF-EM5
    Multiple myeloma oncogene 1

Gene names

Name:	IRF4
Synonyms:	MUM1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	451 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transduction mechanisms specific to lymphoid cells.
Subunit structure	Interacts with SPIB and DEF6.
Subcellular location	Nucleus.
Tissue specificity	Lymphoid cells.
Induction	Not induced by interferons.
Involvement in disease	A chromosomal aberration involving IRF4 may be a cause of multiple myeloma [MIM:254500]. Translocation t(6;14)(p25;q32) with the IgH locus.
Sequence similarities	Belongs to the IRF family. Contains 1 tryptophan pentad repeat DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Ligand	DNA-binding
Molecular function	Activator
Technical term	3D-structure
Gene Ontology (GO)
Biological process	positive regulation of interleukin-10 biosynthetic process Inferred from direct assay. Source: UniProtKB positive regulation of interleukin-13 biosynthetic process Inferred from direct assay. Source: UniProtKB positive regulation of interleukin-2 biosynthetic process Inferred from direct assay. Source: UniProtKB positive regulation of interleukin-4 biosynthetic process Inferred from direct assay. Source: UniProtKB positive regulation of transcription Inferred from direct assay. Source: UniProtKB regulation of T-helper cell differentiation Non-traceable author statement. Source: UniProtKB regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: InterPro
Cellular component	cytoplasm Inferred from direct assay. Source: HPA nucleus Inferred by curator. Source: UniProtKB
Molecular function	RNA polymerase II transcription factor activity Ref.1 Traceable author statement. Source: ProtInc transcription activator activity Inferred from direct assay. Source: UniProtKB transcription factor activity Non-traceable author statement. Source: UniProtKB transcription factor binding Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q15306-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q15306-2)

The sequence of this isoform differs from the canonical sequence as follows:
     165-165: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 451

451

Interferon regulatory factor 4

PRO_0000154556

Regions

DNA binding

23 – 125

103

Tryptophan pentad repeat

Natural variations

Alternative sequence

165

1

Missing in isoform 2.

VSP_002755

Experimental info

Sequence conflict

300

1

Q → H in AAB37258. Ref.2

Sequence conflict

306

1

K → N in AAB37258. Ref.2

Sequence conflict

333

1

R → T in AAB37258. Ref.2

Secondary structure

1

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451

Helix Strand Turn

Details...

Helix

24 – 34

11

Beta strand

37 – 39

3

Beta strand

41 – 47

7

Beta strand

49 – 53

5

Beta strand

60 – 62

3

Helix

64 – 67

4

Helix

69 – 78

10

Helix

90 – 103

14

Beta strand

107 – 109

3

Turn

111 – 113

3

Beta strand

115 – 120

6

Beta strand

122 – 127

6

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1997. Version 1. Checksum: 17CD1327C6F5BFFA	FASTA	451	51,772
	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
	Isoform 2 [UniParc]. Checksum: 85056FCEB84B0EBC		450	51,644
	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 LPAQVHNYMM PPLDRSWRDY 190 200 210 220 230 240 VPDQPHPEIP YQCPMTFGPR GHHWQGPACE NGCQVTGTFY ACAPPESQAP GVPTEPSIRS 250 260 270 280 290 300 AEALAFSDCR LHICLYYREI LVKELTTSSP EGCRISHGHT YDASNLDQVL FPYPEDNGQR 310 320 330 340 350 360 KNIEKLLSHL ERGVVLWMAP DGLYAKRLCQ SRIYWDGPLA LCNDRPNKLE RDQTCKLFDT 370 380 390 400 410 420 QQFLSELQAF AHHGRSLPRF QVTLCFGEEF PDPQRQRKLI TAHVEPLLAR QLYYFAQQNS 430 440 450 GHFLRGYDLP EHISNPEDYH RSIRHSSIQE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25." Grossman A., Mittrucker H.W., Nicholl J., Suzuki A., Chung S., Antonio L., Sugga S., Sutherland G.R., Siderovski D.P., Mak T.W. Genomics 37:229-233(1996) [PubMed: 8921401] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Spleen.
[2]	"Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma." Iida S., Rao P.H., Butler M., Corradini P., Boccadoro M., Klein B., Chaganti R.S.K., Dalla-Favera R. Nat. Genet. 17:226-230(1997) [PubMed: 9326949] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN MULTIPLE MYELOMA. Tissue: Spleen.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Skin.
[5]	"SPI-B activates transcription via a unique proline, serine, and threonine domain and exhibits DNA binding affinity differences from PU.1." Rao S., Matsumura A., Yoon J., Simon M.C. J. Biol. Chem. 274:11115-11124(1999) [PubMed: 10196196] [Abstract] Cited for: INTERACTION WITH SPIB.
[6]	"Molecular cloning of IBP, a SWAP-70 homologous GEF, which is highly expressed in the immune system." Gupta S., Lee A.E., Hu C., Fanzo J.C., Goldberg I., Cattoretti G., Pernis A.B. Hum. Immunol. 64:389-401(2003) [PubMed: 12651066] [Abstract] Cited for: INTERACTION WITH DEF6. Tissue: Lymph node.
[7]	"Solution structure of the IRF domain of human interferon regulator factors 4." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 22-130.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

U52682 mRNA. Translation: AAC50779.1.
U63738 mRNA. Translation: AAB37258.1.
AL589962, AL365272 Genomic DNA. Translation: CAH71554.1.
AL365272, AL589962 Genomic DNA. Translation: CAH72537.1.
BC015752 mRNA. Translation: AAH15752.1.

RefSeq

NP_002451.2.

UniGene

Hs.401013

3D structure databases

PDBMSD

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DLL	NMR	-	A	22-130	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

Q15306.

PTM databases

PhosphoSite

Q15306.

Genome annotation databases

Ensembl

ENSG00000137265. Homo sapiens. [Contig view]

GeneID

3662.

KEGG

hsa:3662.

Organism-specific databases

H-InvDB

HIX0005514.

HGNC

HGNC:6119. IRF4.

HPA

CAB013508.
HPA002038.
HPA002698.

MIM

254500. phenotype.
601900. gene.

Orphanet

29073. Myeloma, multiple.

PharmGKB

PA29918.

GenAtlas

Search...

GeneCards

Search...

Phylogenomic databases

HOGENOM

Q15306.

HOVERGEN

Q15306.

Gene expression databases

ArrayExpress

Q15306.

CleanEx

HS_IRF4.
HS_MUM1.

GermOnline

ENSG00000137265. Homo sapiens.

Family and domain databases

InterPro

IPR001346. IRF.
IPR017855. SMAD_dom-like.
IPR011991. Wing_hlx_DNA_bd.
[Graphical view]

Gene3D

G3DSA:2.60.200.10. MH2_Dwarfin-type. 1 hit.
G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.

Pfam

PF00605. IRF. 1 hit.
[Graphical view]

PRINTS

PR00267. INTFRNREGFCT.

ProDom

PD002355. IRF. 1 hit.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00348. IRF. 1 hit.
[Graphical view]

PROSITE

PS00601. IRF. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

14323.

SOURCE

Search...

Entry information

Entry name

IRF4_HUMAN

Accession

Primary (citable) accession number: Q15306
Secondary accession number(s): Q5VUI7, Q99660

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
Last modified:	November 25, 2008
This is version 89 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)