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O14896 (IRF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Interferon regulatory factor 6

Short name=IRF-6
Gene names
Name:IRF6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length467 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Interacts with SERPINB5. Ref.7

Subcellular location

Nucleus Potential. Cytoplasm. Note: Translocates to nucleus in response to an activating signal By similarity. Ref.7 Ref.8

Tissue specificity

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas. Ref.7

Post-translational modification

Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation. Ref.7 Ref.8

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.19

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.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.15 Ref.20

Sequence similarities

Belongs to the IRF family.

Contains 1 IRF tryptophan pentad repeat DNA-binding domain.

Ontologies

Keywords
   Biological processDifferentiation
Transcription
Transcription regulation
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
   LigandDNA-binding
   PTMUbl conjugation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell cycle arrest

Inferred from direct assay Ref.8. Source: UniProtKB

cell development

Inferred from electronic annotation. Source: Ensembl

cytokine-mediated signaling pathway

Traceable author statement. Source: Reactome

interferon-gamma-mediated signaling pathway

Traceable author statement. Source: Reactome

keratinocyte differentiation

Inferred from electronic annotation. Source: Ensembl

keratinocyte proliferation

Inferred from electronic annotation. Source: Ensembl

mammary gland epithelial cell differentiation

Inferred from sequence or structural similarity. Source: UniProtKB

negative regulation of cell proliferation

Inferred from direct assay Ref.8. Source: UniProtKB

positive regulation of transcription, DNA-templated

Inferred from sequence or structural similarity. Source: UniProtKB

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

type I interferon signaling pathway

Traceable author statement. Source: Reactome

   Cellular_componentcytoplasm

Inferred from direct assay Ref.7Ref.8. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

extracellular vesicular exosome

Inferred from direct assay PubMed 19056867. Source: UniProt

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

regulatory region DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from sequence or structural similarity. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

IRF8Q025563EBI-6115643,EBI-2866563

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14896-1)

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: O14896-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 467467Interferon regulatory factor 6
PRO_0000154560

Regions

DNA binding7 – 115109IRF tryptophan pentad repeat

Natural variations

Alternative sequence1 – 9595Missing in isoform 2.
VSP_046435
Natural variant21A → V in VWS1. Ref.10 Ref.11
Corresponds to variant rs28942093 [ dbSNP | Ensembl ].
VAR_014961
Natural variant61R → C in VWS1. Ref.11
Corresponds to variant rs28942094 [ dbSNP | Ensembl ].
VAR_030046
Natural variant161A → V in VWS1. Ref.12
VAR_030047
Natural variant181V → A in VWS1; abrogates DNA binding. Ref.10 Ref.18
VAR_014962
Natural variant181V → M in VWS1; abrogates DNA binding. Ref.10 Ref.18
VAR_014963
Natural variant221L → P in VWS1 and PPS; abrogates DNA binding. Ref.12 Ref.18
VAR_030048
Natural variant391P → A in VWS1. Ref.10
VAR_014964
Natural variant451R → Q in VWS1. Ref.13
Corresponds to variant rs121434229 [ dbSNP | Ensembl ].
VAR_030049
Natural variant601W → G in PPS; abrogates DNA binding. Ref.10 Ref.18
VAR_014965
Natural variant611A → G in VWS1. Ref.10
VAR_014966
Natural variant641T → I in VWS1. Ref.12
VAR_030050
Natural variant661K → T in PPS. Ref.10
VAR_014967
Natural variant701G → R in VWS1; does not affect DNA binding. Ref.10 Ref.18
VAR_014968
Natural variant761P → S in VWS1; abrogates DNA binding. Ref.10 Ref.18
VAR_014969
Natural variant821Q → K in PPS. Ref.10
VAR_014970
Natural variant841R → C in PPS; abrogates DNA binding. Ref.10 Ref.18
VAR_014971
Natural variant841R → G in VWS1; abrogates DNA binding. Ref.14 Ref.18
VAR_030051
Natural variant841R → H in PPS; abrogates DNA binding. Ref.10 Ref.18
VAR_014972
Natural variant841R → L in PPS. Ref.19
VAR_064475
Natural variant881N → H in VWS1. Ref.10
VAR_014973
Natural variant891K → E in PPS; abrogates DNA binding. Ref.10 Ref.18
VAR_014974
Natural variant901S → G in VWS1. Ref.10
VAR_014975
Natural variant981D → H in VWS1; abrogates DNA binding. Ref.10 Ref.18
VAR_014976
Natural variant1001T → A in VWS1. Ref.12
VAR_030052
Natural variant2501R → Q in VWS1. Ref.10
VAR_014977
Natural variant2511L → P in VWS1. Ref.12
VAR_030053
Natural variant2731Q → R in VWS1. Ref.10
VAR_014978
Natural variant2741V → 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. Ref.2 Ref.3 Ref.10 Ref.15
Corresponds to variant rs2235371 [ dbSNP | Ensembl ].
VAR_014979
Natural variant290 – 2967FTSKLLD → L in VWS1.
VAR_014980
Natural variant2941L → P in VWS1. Ref.10
VAR_014981
Natural variant2971V → I in VWS1. Ref.10
VAR_014982
Natural variant3201K → E in VWS1. Ref.10
VAR_014983
Natural variant3211V → M in VWS1. Ref.10
VAR_014984
Natural variant3251G → E in VWS1. Ref.10
VAR_014985
Natural variant3391R → I in VWS1. Ref.17
VAR_059080
Natural variant3451L → P in VWS1. Ref.10
VAR_014986
Natural variant3471C → F in VWS1. Ref.10
VAR_014987
Natural variant3491E → V in VWS1. Ref.16
VAR_030054
Natural variant3691F → S in VWS1 and OFC6. Ref.10 Ref.20
VAR_014988
Natural variant3741C → W in VWS1. Ref.10
VAR_014989
Natural variant3881K → E in VWS1. Ref.10
VAR_014990
Natural variant3961P → S in VWS1. Ref.13
VAR_030055
Natural variant4001R → W in VWS1. Ref.11
Corresponds to variant rs28942095 [ dbSNP | Ensembl ].
VAR_030056
Natural variant4241S → L in PPS; significant decrease of transcriptional activity. Ref.19
VAR_064476
Natural variant4301D → N in PPS. Ref.10
VAR_014991

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 1, 1998. Version 1.
Checksum: 7E28F5E0F5BA4053

FASTA46753,130
        10         20         30         40         50         60 
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ EEENTIFKAW 

        70         80         90        100        110        120 
AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT KEVPMNPVKI YQVCDIPQPQ 

       130        140        150        160        170        180 
GSIINPGSTG SAPWDEKDND VDEEDEEDEL DQSQHHVPIQ DTFPFLNING SPMAPASVGN 

       190        200        210        220        230        240 
CSVGNCSPEA VWPKTEPLEM EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT 

       250        260        270        280        290        300 
MTVSNPQGCR LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 

       310        320        330        340        350        360 
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET FLSDLIAHQK 

       370        380        390        400        410        420 
GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR MIYEMFSGDF TRSFDSGSVR 

       430        440        450        460 
LQISTPDIKD NIVAQLKQLY RILQTQESWQ PMQPTPSMQL PPALPPQ 

« Hide

Isoform 2 [UniParc].

Checksum: 2AF7C0699CE42FF0
Show »

FASTA37241,930

References

« Hide 'large scale' references
[1]Grossman A., Mittrucker H.W., Antonio L., Ozato K., Mak T.W.
Submitted (SEP-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Homo sapiens interferon regulatory factor 6 (IRF6) gene sequence from Hakka population in Guangdong Province, South China."
Wang H., Wu W., Hua L., Li F., Chen Y., Cui Y.
Submitted (FEB-2011) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ILE-274.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
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. expand/collapse author list , 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.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ILE-274.
Tissue: Tongue.
[4]"The DNA sequence and biological annotation of human chromosome 1."
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. expand/collapse author list , 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.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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. expand/collapse author list , 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
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Placenta.
[7]"Mammary serine protease inhibitor (Maspin) binds directly to interferon regulatory factor 6: identification of a novel serpin partnership."
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.
J. Biol. Chem. 280:34210-34217(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH SERPINB5, PHOSPHORYLATION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[8]"Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner."
Bailey C.M., Abbott D.E., Margaryan N.V., Khalkhali-Ellis Z., Hendrix M.J.C.
Mol. Cell. Biol. 28:2235-2243(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, UBIQUITINATION, PHOSPHORYLATION.
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes."
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. expand/collapse author list , Arcos-Burgos M., Valencia C., Houdayer C., Bahuau M., Moretti-Ferreira D., Richieri-Costa A., Dixon M.J., Murray J.C.
Nat. Genet. 32:285-289(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: 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, VARIANT ILE-274.
[11]"Novel mutations in the IRF6 gene for Van der Woude syndrome."
Wang X., Liu J., Zhang H., Xiao M., Li J., Yang C., Lin X., Wu Z., Hu L., Kong X.
Hum. Genet. 113:382-386(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VWS1 VAL-2; CYS-6 AND TRP-400.
[12]"Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium."
Ghassibe M., Revencu N., Bayet B., Gillerot Y., Vanwijck R., Verellen-Dumoulin C., Vikkula M.
Hum. Genet. 113:558-558(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VWS1 VAL-16; ILE-64; ALA-100 AND PRO-251, VARIANT VWS1/PPS PRO-22.
[13]"Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion."
Kayano S., Kure S., Suzuki Y., Kanno K., Aoki Y., Kondo S., Schutte B.C., Murray J.C., Yamada A., Matsubara Y.
J. Hum. Genet. 48:622-628(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VWS1 GLN-45 AND SER-396.
[14]"Gene symbol: IRF6. Disease: Van der Woude syndrome."
Item C.B., Turhani D., Thurnher D., Sinko K., Yerit K., Galev K., Wittwer G., Lanre Adeyemo W., Klemens F., Ewers R., Watzinger F.
Hum. Genet. 115:175-175(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT VWS1 GLY-84.
[15]"Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate."
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. expand/collapse author list , 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.
N. Engl. J. Med. 351:769-780(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION OF VARIANT ILE-274 WITH OFC6.
[16]"A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis."
Matsuzawa N., Shimozato K., Natsume N., Niikawa N., Yoshiura K.
J. Dent. Res. 85:1143-1146(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT VWS1 VAL-349.
[17]"A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia."
de Medeiros F., Hansen L., Mawlad E., Eiberg H., Asklund C., Tommerup N., Jakobsen L.P.
Am. J. Med. Genet. A 146:1605-1608(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT VWS1 ILE-339.
[18]"Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6."
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.
Hum. Mol. Genet. 18:535-545(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: 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.
[19]"Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome."
Matsuzawa N., Kondo S., Shimozato K., Nagao T., Nakano M., Tsuda M., Hirano A., Niikawa N., Yoshiura K.
Am. J. Med. Genet. A 152:2262-2267(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PPS LEU-84 AND LEU-424, CHARACTERIZATION OF VARIANT PPS LEU-424.
[20]"IRF6 mutations in mixed isolated familial clefting."
Rutledge K.D., Barger C., Grant J.H., Robin N.H.
Am. J. Med. Genet. A 152:3107-3109(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT OFC6 SER-369.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF027292 mRNA. Translation: AAB84111.1.
JF346417 Genomic DNA. Translation: AEL89176.1.
AK296960 mRNA. Translation: BAG59504.1.
AL022398 Genomic DNA. Translation: CAA18545.1.
CH471100 Genomic DNA. Translation: EAW93438.1.
CH471100 Genomic DNA. Translation: EAW93439.1.
BC014852 mRNA. Translation: AAH14852.1.
RefSeqNP_001193625.1. NM_001206696.1.
NP_006138.1. NM_006147.3.
UniGeneHs.591415.

3D structure databases

ProteinModelPortalO14896.
SMRO14896. Positions 12-112, 221-445.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109872. 9 interactions.
IntActO14896. 3 interactions.
STRING9606.ENSP00000355988.

PTM databases

PhosphoSiteO14896.

Proteomic databases

PaxDbO14896.
PeptideAtlasO14896.
PRIDEO14896.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
GeneID3664.
KEGGhsa:3664.
UCSCuc001hhq.2. human. [O14896-1]

Organism-specific databases

CTD3664.
GeneCardsGC01M209959.
HGNCHGNC:6121. IRF6.
MIM119300. phenotype.
119500. phenotype.
607199. gene.
608864. phenotype.
neXtProtNX_O14896.
Orphanet1300. Autosomal dominant popliteal pterygium syndrome.
1991. Cleft lip with or without cleft palate.
2227. Hypodontia.
99798. Oligodontia.
888. Van der Woude syndrome.
PharmGKBPA29920.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45968.
HOGENOMHOG000037433.
HOVERGENHBG105715.
InParanoidO14896.
KOK10154.
OMAHEEENTI.
OrthoDBEOG7CCBR1.
PhylomeDBO14896.
TreeFamTF328512.

Enzyme and pathway databases

ReactomeREACT_6900. Immune System.

Gene expression databases

ArrayExpressO14896.
BgeeO14896.
CleanExHS_IRF6.
GenevestigatorO14896.

Family and domain databases

Gene3D1.10.10.10. 1 hit.
2.60.200.10. 1 hit.
InterProIPR019817. Interferon_reg_fac_CS.
IPR001346. Interferon_reg_fact_DNA-bd_dom.
IPR019471. Interferon_reg_factor-3.
IPR017855. SMAD_dom-like.
IPR008984. SMAD_FHA_domain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00605. IRF. 1 hit.
PF10401. IRF-3. 1 hit.
[Graphical view]
PRINTSPR00267. INTFRNREGFCT.
SMARTSM00348. IRF. 1 hit.
[Graphical view]
SUPFAMSSF49879. SSF49879. 1 hit.
PROSITEPS00601. IRF_1. 1 hit.
PS51507. IRF_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSIRF6. human.
GeneWikiIRF6.
GenomeRNAi3664.
NextBio14343.
PROO14896.
SOURCESearch...

Entry information

Entry nameIRF6_HUMAN
AccessionPrimary (citable) accession number: O14896
Secondary accession number(s): B4DLE2 expand/collapse secondary AC list , D3DT90, F5GWX8, G0ZTL0
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: April 16, 2014
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM