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Interferon regulatory factor 6 (IRF-6)

 IRF6_HUMAN              Reviewed;         467 AA.
O14896; B4DLE2; D3DT90; F5GWX8; G0ZTL0;
15-JUL-1998, integrated into UniProtKB/Swiss-Prot.
01-JAN-1998, sequence version 1.
20-JUN-2018, entry version 174.
RecName: Full=Interferon regulatory factor 6;
Short=IRF-6;
Name=IRF6;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Grossman A., Mittrucker H.W., Antonio L., Ozato K., Mak T.W.;
Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases.
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT ILE-274.
Wang H., Wu W., Hua L., Li F., Chen Y., Cui Y.;
"Homo sapiens interferon regulatory factor 6 (IRF6) gene sequence from
Hakka population in Guangdong Province, South China.";
Submitted (FEB-2011) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT
ILE-274.
TISSUE=Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16710414; DOI=10.1038/nature04727;
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D.,
Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A.,
Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F.,
McDonald L., Evans R., Phillips K., Atkinson A., Cooper R., Jones C.,
Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P.,
Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K.,
Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G.,
Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D.,
Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G.,
Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J.,
Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R.,
Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D.,
Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G.,
Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M.,
Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J.,
Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M.,
Loveland J., Lovell J., Lush M.J., Lyne R., Martin S.,
Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S.,
Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C.,
Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z.,
Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E.,
Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A.,
Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R.,
Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V.,
Beck S., Rogers J., Bentley D.R.;
"The DNA sequence and biological annotation of human chromosome 1.";
Nature 441:315-321(2006).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Placenta;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INTERACTION WITH SERPINB5, PHOSPHORYLATION, TISSUE SPECIFICITY, AND
SUBCELLULAR LOCATION.
PubMed=16049006; DOI=10.1074/jbc.M503523200;
Bailey C.M., Khalkhali-Ellis Z., Kondo S., Margaryan N.V.,
Seftor R.E.B., Wheaton W.W., Amir S., Pins M.R., Schutte B.C.,
Hendrix M.J.C.;
"Mammary serine protease inhibitor (Maspin) binds directly to
interferon regulatory factor 6: identification of a novel serpin
partnership.";
J. Biol. Chem. 280:34210-34217(2005).
[8]
SUBCELLULAR LOCATION, UBIQUITINATION, AND PHOSPHORYLATION.
PubMed=18212048; DOI=10.1128/MCB.01866-07;
Bailey C.M., Abbott D.E., Margaryan N.V., Khalkhali-Ellis Z.,
Hendrix M.J.C.;
"Interferon regulatory factor 6 promotes cell cycle arrest and is
regulated by the proteasome in a cell cycle-dependent manner.";
Mol. Cell. Biol. 28:2235-2243(2008).
[9]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[10]
VARIANTS VWS1 VAL-2; ALA-18; MET-18; ALA-39; GLY-61; ARG-70; SER-76;
HIS-88; GLY-90; HIS-98; GLN-250; ARG-273; 290-PHE--ASP-296 DELINS LEU;
PRO-294; ILE-297; GLU-320; MET-321; GLU-325; PRO-345; PHE-347;
SER-369; TRP-374 AND GLU-388, VARIANTS PPS GLY-60; THR-66; LYS-82;
CYS-84; HIS-84; GLU-89 AND ASN-430, AND VARIANT ILE-274.
PubMed=12219090; DOI=10.1038/ng985;
Kondo S., Schutte B.C., Richardson R.J., Bjork B.C., Knight A.S.,
Watanabe Y., Howard E., de Lima R.L.L., Daack-Hirsch S., Sander A.,
McDonald-McGinn D.M., Zackai E.H., Lammer E.J., Aylsworth A.S.,
Ardinger H.H., Lidral A.C., Pober B.R., Moreno L., Arcos-Burgos M.,
Valencia C., Houdayer C., Bahuau M., Moretti-Ferreira D.,
Richieri-Costa A., Dixon M.J., Murray J.C.;
"Mutations in IRF6 cause Van der Woude and popliteal pterygium
syndromes.";
Nat. Genet. 32:285-289(2002).
[11]
VARIANTS VWS1 VAL-2; CYS-6 AND TRP-400.
PubMed=12920575; DOI=10.1007/s00439-003-0989-2;
Wang X., Liu J., Zhang H., Xiao M., Li J., Yang C., Lin X., Wu Z.,
Hu L., Kong X.;
"Novel mutations in the IRF6 gene for Van der Woude syndrome.";
Hum. Genet. 113:382-386(2003).
[12]
VARIANTS VWS1 VAL-16; ILE-64; ALA-100 AND PRO-251, AND VARIANT
VWS1/PPS PRO-22.
PubMed=14640121;
Ghassibe M., Revencu N., Bayet B., Gillerot Y., Vanwijck R.,
Verellen-Dumoulin C., Vikkula M.;
"Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal
pterygium.";
Hum. Genet. 113:558-558(2003).
[13]
VARIANTS VWS1 GLN-45 AND SER-396.
PubMed=14618417; DOI=10.1007/s10038-003-0089-0;
Kayano S., Kure S., Suzuki Y., Kanno K., Aoki Y., Kondo S.,
Schutte B.C., Murray J.C., Yamada A., Matsubara Y.;
"Novel IRF6 mutations in Japanese patients with Van der Woude
syndrome: two missense mutations (R45Q and P396S) and a 17-kb
deletion.";
J. Hum. Genet. 48:622-628(2003).
[14]
VARIANT VWS1 GLY-84.
PubMed=15300989;
Item C.B., Turhani D., Thurnher D., Sinko K., Yerit K., Galev K.,
Wittwer G., Lanre Adeyemo W., Klemens F., Ewers R., Watzinger F.;
"Gene symbol: IRF6. Disease: Van der Woude syndrome.";
Hum. Genet. 115:175-175(2004).
[15]
ASSOCIATION OF VARIANT ILE-274 WITH OFC6.
PubMed=15317890; DOI=10.1056/NEJMoa032909;
Zucchero T.M., Cooper M.E., Maher B.S., Daack-Hirsch S.,
Nepomuceno B., Ribeiro L., Caprau D., Christensen K., Suzuki Y.,
Machida J., Natsume N., Yoshiura K., Vieira A.R., Orioli I.M.,
Castilla E.E., Moreno L., Arcos-Burgos M., Lidral A.C., Field L.L.,
Liu Y.-E., Ray A., Goldstein T.H., Schultz R.E., Shi M., Johnson M.K.,
Kondo S., Schutte B.C., Marazita M.L., Murray J.C.;
"Interferon regulatory factor 6 (IRF6) gene variants and the risk of
isolated cleft lip or palate.";
N. Engl. J. Med. 351:769-780(2004).
[16]
VARIANT VWS1 VAL-349.
PubMed=17122170; DOI=10.1177/154405910608501215;
Matsuzawa N., Shimozato K., Natsume N., Niikawa N., Yoshiura K.;
"A novel missense mutation in Van der Woude syndrome: usefulness of
fingernail DNA for genetic analysis.";
J. Dent. Res. 85:1143-1146(2006).
[17]
VARIANT VWS1 ILE-339.
PubMed=18478600; DOI=10.1002/ajmg.a.32257;
de Medeiros F., Hansen L., Mawlad E., Eiberg H., Asklund C.,
Tommerup N., Jakobsen L.P.;
"A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with
renal aplasia.";
Am. J. Med. Genet. A 146:1605-1608(2008).
[18]
CHARACTERIZATION OF VARIANTS VWS1/PPS ALA-18; MET-18; PRO-22; GLY-60;
ARG-70; SER-76; CYS-84; GLY-84; HIS-84; GLU-89 AND HIS-98.
PubMed=19036739; DOI=10.1093/hmg/ddn381;
Little H.J., Rorick N.K., Su L.-I., Baldock C., Malhotra S.,
Jowitt T., Gakhar L., Subramanian R., Schutte B.C., Dixon M.J.,
Shore P.;
"Missense mutations that cause Van der Woude syndrome and popliteal
pterygium syndrome affect the DNA-binding and transcriptional
activation functions of IRF6.";
Hum. Mol. Genet. 18:535-545(2009).
[19]
VARIANTS PPS LEU-84 AND LEU-424, AND CHARACTERIZATION OF VARIANT PPS
LEU-424.
PubMed=20803643; DOI=10.1002/ajmg.a.33338;
Matsuzawa N., Kondo S., Shimozato K., Nagao T., Nakano M., Tsuda M.,
Hirano A., Niikawa N., Yoshiura K.;
"Two missense mutations of the IRF6 gene in two Japanese families with
popliteal pterygium syndrome.";
Am. J. Med. Genet. A 152:2262-2267(2010).
[20]
VARIANT OFC6 SER-369.
PubMed=21082654; DOI=10.1002/ajmg.a.33053;
Rutledge K.D., Barger C., Grant J.H., Robin N.H.;
"IRF6 mutations in mixed isolated familial clefting.";
Am. J. Med. Genet. A 152:3107-3109(2010).
-!- FUNCTION: Probable DNA-binding transcriptional activator. Key
determinant of the keratinocyte proliferation-differentiation
switch involved in appropriate epidermal development (By
similarity). Plays a role in regulating mammary epithelial cell
proliferation (By similarity). May regulate WDR65 transcription
(By similarity). {ECO:0000250}.
-!- SUBUNIT: Interacts with SERPINB5. {ECO:0000269|PubMed:16049006}.
-!- INTERACTION:
Q02556:IRF8; NbExp=3; IntAct=EBI-6115643, EBI-2866563;
-!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm
{ECO:0000269|PubMed:16049006, ECO:0000269|PubMed:18212048}.
Note=Translocates to nucleus in response to an activating signal.
{ECO:0000250}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=2;
Name=1;
IsoId=O14896-1; Sequence=Displayed;
Name=2;
IsoId=O14896-2; Sequence=VSP_046435;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Expressed in normal mammary epithelial cells.
Expression is reduced or absent in breast carcinomas.
{ECO:0000269|PubMed:16049006}.
-!- PTM: Phosphorylated. Phosphorylation status depends on the cell
cycle and is a signal for ubiquitination and proteasome-mediated
degradation. {ECO:0000269|PubMed:16049006,
ECO:0000269|PubMed:18212048}.
-!- DISEASE: Van der Woude syndrome 1 (VWS1) [MIM:119300]: An
autosomal dominant developmental disorder characterized by lower
lip pits, cleft lip and/or cleft palate.
{ECO:0000269|PubMed:12219090, ECO:0000269|PubMed:12920575,
ECO:0000269|PubMed:14618417, ECO:0000269|PubMed:14640121,
ECO:0000269|PubMed:15300989, ECO:0000269|PubMed:17122170,
ECO:0000269|PubMed:18478600, ECO:0000269|PubMed:19036739}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Popliteal pterygium syndrome (PPS) [MIM:119500]: An
autosomal dominant disorder characterized by oro-facial, skin and
genital anomalies. Expressivity is variable. Clinical features
include cleft lip/palate, lower lip cysts, syngnathia, congenital
ankyloblepharon filiforme in some cases, bifid scrotum,
hypoplastic scrotum, hypoplastic uterus, talipes equinovarus.
{ECO:0000269|PubMed:12219090, ECO:0000269|PubMed:14640121,
ECO:0000269|PubMed:19036739, ECO:0000269|PubMed:20803643}.
Note=The disease is caused by mutations affecting the gene
represented in this entry.
-!- DISEASE: Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: A
birth defect consisting of cleft lips with or without cleft
palate. Cleft lips are associated with cleft palate in two-third
of cases. A cleft lip can occur on one or both sides and range in
severity from a simple notch in the upper lip to a complete
opening in the lip extending into the floor of the nostril and
involving the upper gum. {ECO:0000269|PubMed:15317890,
ECO:0000269|PubMed:21082654}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- SIMILARITY: Belongs to the IRF family. {ECO:0000255|PROSITE-
ProRule:PRU00840}.
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EMBL; AF027292; AAB84111.1; -; mRNA.
EMBL; JF346417; AEL89176.1; -; Genomic_DNA.
EMBL; AK296960; BAG59504.1; -; mRNA.
EMBL; AL022398; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471100; EAW93438.1; -; Genomic_DNA.
EMBL; CH471100; EAW93439.1; -; Genomic_DNA.
EMBL; BC014852; AAH14852.1; -; mRNA.
CCDS; CCDS1492.1; -. [O14896-1]
CCDS; CCDS55681.1; -. [O14896-2]
RefSeq; NP_001193625.1; NM_001206696.1. [O14896-2]
RefSeq; NP_006138.1; NM_006147.3. [O14896-1]
UniGene; Hs.591415; -.
ProteinModelPortal; O14896; -.
SMR; O14896; -.
BioGrid; 109872; 7.
IntAct; O14896; 3.
STRING; 9606.ENSP00000355988; -.
iPTMnet; O14896; -.
PhosphoSitePlus; O14896; -.
BioMuta; IRF6; -.
EPD; O14896; -.
MaxQB; O14896; -.
PaxDb; O14896; -.
PeptideAtlas; O14896; -.
PRIDE; O14896; -.
ProteomicsDB; 48286; -.
TopDownProteomics; O14896-1; -. [O14896-1]
Ensembl; ENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
Ensembl; ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
GeneID; 3664; -.
KEGG; hsa:3664; -.
UCSC; uc001hhq.3; human. [O14896-1]
CTD; 3664; -.
DisGeNET; 3664; -.
EuPathDB; HostDB:ENSG00000117595.10; -.
GeneCards; IRF6; -.
GeneReviews; IRF6; -.
HGNC; HGNC:6121; IRF6.
HPA; HPA063121; -.
HPA; HPA076162; -.
MalaCards; IRF6; -.
MIM; 119300; phenotype.
MIM; 119500; phenotype.
MIM; 607199; gene.
MIM; 608864; phenotype.
neXtProt; NX_O14896; -.
OpenTargets; ENSG00000117595; -.
Orphanet; 1300; Autosomal dominant popliteal pterygium syndrome.
Orphanet; 1991; Cleft lip with or without cleft palate.
Orphanet; 2227; Hypodontia.
Orphanet; 99798; Oligodontia.
Orphanet; 888; Van der Woude syndrome.
PharmGKB; PA29920; -.
eggNOG; ENOG410IFCV; Eukaryota.
eggNOG; ENOG410XRXT; LUCA.
GeneTree; ENSGT00760000119093; -.
HOGENOM; HOG000037433; -.
HOVERGEN; HBG105715; -.
InParanoid; O14896; -.
KO; K10154; -.
OMA; PQHEEEN; -.
OrthoDB; EOG091G067P; -.
PhylomeDB; O14896; -.
TreeFam; TF328512; -.
Reactome; R-HSA-877300; Interferon gamma signaling.
Reactome; R-HSA-909733; Interferon alpha/beta signaling.
ChiTaRS; IRF6; human.
GeneWiki; IRF6; -.
GenomeRNAi; 3664; -.
PRO; PR:O14896; -.
Proteomes; UP000005640; Chromosome 1.
Bgee; ENSG00000117595; -.
CleanEx; HS_IRF6; -.
ExpressionAtlas; O14896; baseline and differential.
Genevisible; O14896; HS.
GO; GO:0030054; C:cell junction; IDA:HPA.
GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0005634; C:nucleus; IDA:HPA.
GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
GO; GO:0003700; F:DNA binding transcription factor activity; ISS:UniProtKB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISA:NTNU_SB.
GO; GO:0043565; F:sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0044212; F:transcription regulatory region DNA binding; IEA:InterPro.
GO; GO:0001228; F:transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding; IC:NTNU_SB.
GO; GO:0007050; P:cell cycle arrest; IDA:UniProtKB.
GO; GO:0048468; P:cell development; IEA:Ensembl.
GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; TAS:Reactome.
GO; GO:0030216; P:keratinocyte differentiation; IEA:Ensembl.
GO; GO:0043616; P:keratinocyte proliferation; IEA:Ensembl.
GO; GO:0060644; P:mammary gland epithelial cell differentiation; ISS:UniProtKB.
GO; GO:0008285; P:negative regulation of cell proliferation; IDA:UniProtKB.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
GO; GO:0060337; P:type I interferon signaling pathway; TAS:Reactome.
CDD; cd00103; IRF; 1.
Gene3D; 1.10.10.10; -; 1.
Gene3D; 2.60.200.10; -; 1.
InterPro; IPR019817; Interferon_reg_fac_CS.
InterPro; IPR001346; Interferon_reg_fact_DNA-bd_dom.
InterPro; IPR019471; Interferon_reg_factor-3.
InterPro; IPR017855; SMAD-like_dom_sf.
InterPro; IPR008984; SMAD_FHA_dom_sf.
InterPro; IPR036388; WH-like_DNA-bd_sf.
InterPro; IPR036390; WH_DNA-bd_sf.
PANTHER; PTHR11949; PTHR11949; 1.
Pfam; PF00605; IRF; 1.
Pfam; PF10401; IRF-3; 1.
PRINTS; PR00267; INTFRNREGFCT.
SMART; SM00348; IRF; 1.
SMART; SM01243; IRF-3; 1.
SUPFAM; SSF46785; SSF46785; 1.
SUPFAM; SSF49879; SSF49879; 1.
PROSITE; PS00601; IRF_1; 1.
PROSITE; PS51507; IRF_2; 1.
1: Evidence at protein level;
Alternative splicing; Complete proteome; Cytoplasm; Differentiation;
Disease mutation; DNA-binding; Nucleus; Polymorphism;
Reference proteome; Transcription; Transcription regulation;
Ubl conjugation.
CHAIN 1 467 Interferon regulatory factor 6.
/FTId=PRO_0000154560.
DNA_BIND 7 115 IRF tryptophan pentad repeat.
{ECO:0000255|PROSITE-ProRule:PRU00840}.
VAR_SEQ 1 95 Missing (in isoform 2).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_046435.
VARIANT 2 2 A -> V (in VWS1; dbSNP:rs28942093).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:12920575}.
/FTId=VAR_014961.
VARIANT 6 6 R -> C (in VWS1; dbSNP:rs28942094).
{ECO:0000269|PubMed:12920575}.
/FTId=VAR_030046.
VARIANT 16 16 A -> V (in VWS1).
{ECO:0000269|PubMed:14640121}.
/FTId=VAR_030047.
VARIANT 18 18 V -> A (in VWS1; abrogates DNA binding).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014962.
VARIANT 18 18 V -> M (in VWS1; abrogates DNA binding).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014963.
VARIANT 22 22 L -> P (in VWS1 and PPS; abrogates DNA
binding; dbSNP:rs387906967).
{ECO:0000269|PubMed:14640121,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_030048.
VARIANT 39 39 P -> A (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014964.
VARIANT 45 45 R -> Q (in VWS1; dbSNP:rs121434229).
{ECO:0000269|PubMed:14618417}.
/FTId=VAR_030049.
VARIANT 60 60 W -> G (in PPS; abrogates DNA binding).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014965.
VARIANT 61 61 A -> G (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014966.
VARIANT 64 64 T -> I (in VWS1).
{ECO:0000269|PubMed:14640121}.
/FTId=VAR_030050.
VARIANT 66 66 K -> T (in PPS).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014967.
VARIANT 70 70 G -> R (in VWS1; does not affect DNA
binding; dbSNP:rs776236749).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014968.
VARIANT 76 76 P -> S (in VWS1; abrogates DNA binding;
dbSNP:rs886039388).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014969.
VARIANT 82 82 Q -> K (in PPS).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014970.
VARIANT 84 84 R -> C (in PPS; abrogates DNA binding;
dbSNP:rs121434226).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014971.
VARIANT 84 84 R -> G (in VWS1; abrogates DNA binding).
{ECO:0000269|PubMed:15300989,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_030051.
VARIANT 84 84 R -> H (in PPS; abrogates DNA binding;
dbSNP:rs121434227).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014972.
VARIANT 84 84 R -> L (in PPS; dbSNP:rs121434227).
{ECO:0000269|PubMed:20803643}.
/FTId=VAR_064475.
VARIANT 88 88 N -> H (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014973.
VARIANT 89 89 K -> E (in PPS; abrogates DNA binding).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014974.
VARIANT 90 90 S -> G (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014975.
VARIANT 98 98 D -> H (in VWS1; abrogates DNA binding).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:19036739}.
/FTId=VAR_014976.
VARIANT 100 100 T -> A (in VWS1).
{ECO:0000269|PubMed:14640121}.
/FTId=VAR_030052.
VARIANT 250 250 R -> Q (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014977.
VARIANT 251 251 L -> P (in VWS1).
{ECO:0000269|PubMed:14640121}.
/FTId=VAR_030053.
VARIANT 273 273 Q -> R (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014978.
VARIANT 274 274 V -> I (common polymorphism; 3% in
European-descended and 22% in Asian
populations; responsible for 12% of the
genetic contribution to cleft lip or
palate; tripled the risk of recurrence in
families that already had 1 affected
child; dbSNP:rs2235371).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:14702039,
ECO:0000269|Ref.2}.
/FTId=VAR_014979.
VARIANT 290 296 FTSKLLD -> L (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014980.
VARIANT 294 294 L -> P (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014981.
VARIANT 297 297 V -> I (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014982.
VARIANT 320 320 K -> E (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014983.
VARIANT 321 321 V -> M (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014984.
VARIANT 325 325 G -> E (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014985.
VARIANT 339 339 R -> I (in VWS1; dbSNP:rs121434231).
{ECO:0000269|PubMed:18478600}.
/FTId=VAR_059080.
VARIANT 345 345 L -> P (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014986.
VARIANT 347 347 C -> F (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014987.
VARIANT 349 349 E -> V (in VWS1).
{ECO:0000269|PubMed:17122170}.
/FTId=VAR_030054.
VARIANT 369 369 F -> S (in VWS1 and OFC6).
{ECO:0000269|PubMed:12219090,
ECO:0000269|PubMed:21082654}.
/FTId=VAR_014988.
VARIANT 374 374 C -> W (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014989.
VARIANT 388 388 K -> E (in VWS1).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014990.
VARIANT 396 396 P -> S (in VWS1; dbSNP:rs121434230).
{ECO:0000269|PubMed:14618417}.
/FTId=VAR_030055.
VARIANT 400 400 R -> W (in VWS1; dbSNP:rs28942095).
{ECO:0000269|PubMed:12920575}.
/FTId=VAR_030056.
VARIANT 424 424 S -> L (in PPS; significant decrease of
transcriptional activity;
dbSNP:rs387906968).
{ECO:0000269|PubMed:20803643}.
/FTId=VAR_064476.
VARIANT 430 430 D -> N (in PPS).
{ECO:0000269|PubMed:12219090}.
/FTId=VAR_014991.
SEQUENCE 467 AA; 53130 MW; 7E28F5E0F5BA4053 CRC64;
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW
AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ
GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN
CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT
MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK
GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR
LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ


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