O14896 (IRF6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Interferon regulatory factor 6
Short name=IRF-6

Gene names

Name:

IRF6

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	467 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	Differentiation Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
Ligand	DNA-binding
PTM	Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell cycle arrest Inferred from direct assay Ref.8. Source: UniProtKB cell development Inferred from electronic annotation. Source: Compara interferon-gamma-mediated signaling pathway Traceable author statement. Source: Reactome keratinocyte differentiation Inferred from electronic annotation. Source: Compara keratinocyte proliferation Inferred from electronic annotation. Source: Compara 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-dependent Inferred from sequence or structural similarity. Source: UniProtKB skin development Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW type I interferon-mediated signaling pathway Traceable author statement. Source: Reactome
Cellular_component	cytosol Traceable author statement. Source: Reactome nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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
IRF8	Q02556	3	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 467	467	Interferon regulatory factor 6		PRO_0000154560
Regions
	DNA binding	7 – 115	109	IRF tryptophan pentad repeat
Natural variations
	Alternative sequence	1 – 95	95	Missing in isoform 2.		VSP_046435
	Natural variant	2	1	A → V in VWS1. Ref.10 Ref.11 Corresponds to variant rs28942093 [ dbSNP | Ensembl ].		VAR_014961
	Natural variant	6	1	R → C in VWS1. Ref.11 Corresponds to variant rs28942094 [ dbSNP | Ensembl ].		VAR_030046
	Natural variant	16	1	A → V in VWS1. Ref.12		VAR_030047
	Natural variant	18	1	V → A in VWS1; abrogates DNA binding. Ref.10 Ref.18		VAR_014962
	Natural variant	18	1	V → M in VWS1; abrogates DNA binding. Ref.10 Ref.18		VAR_014963
	Natural variant	22	1	L → P in VWS1 and PPS; abrogates DNA binding. Ref.12 Ref.18		VAR_030048
	Natural variant	39	1	P → A in VWS1. Ref.10		VAR_014964
	Natural variant	45	1	R → Q in VWS1. Ref.13		VAR_030049
	Natural variant	60	1	W → G in PPS; abrogates DNA binding. Ref.10 Ref.18		VAR_014965
	Natural variant	61	1	A → G in VWS1. Ref.10		VAR_014966
	Natural variant	64	1	T → I in VWS1. Ref.12		VAR_030050
	Natural variant	66	1	K → T in PPS. Ref.10		VAR_014967
	Natural variant	70	1	G → R in VWS1; does not affect DNA binding. Ref.10 Ref.18		VAR_014968
	Natural variant	76	1	P → S in VWS1; abrogates DNA binding. Ref.10 Ref.18		VAR_014969
	Natural variant	82	1	Q → K in PPS. Ref.10		VAR_014970
	Natural variant	84	1	R → C in PPS; abrogates DNA binding. Ref.10 Ref.18		VAR_014971
	Natural variant	84	1	R → G in VWS1; abrogates DNA binding. Ref.14 Ref.18		VAR_030051
	Natural variant	84	1	R → H in PPS; abrogates DNA binding. Ref.10 Ref.18		VAR_014972
	Natural variant	84	1	R → L in PPS. Ref.19		VAR_064475
	Natural variant	88	1	N → H in VWS1. Ref.10		VAR_014973
	Natural variant	89	1	K → E in PPS; abrogates DNA binding. Ref.10 Ref.18		VAR_014974
	Natural variant	90	1	S → G in VWS1. Ref.10		VAR_014975
	Natural variant	98	1	D → H in VWS1; abrogates DNA binding. Ref.10 Ref.18		VAR_014976
	Natural variant	100	1	T → A in VWS1. Ref.12		VAR_030052
	Natural variant	250	1	R → Q in VWS1. Ref.10		VAR_014977
	Natural variant	251	1	L → P in VWS1. Ref.12		VAR_030053
	Natural variant	273	1	Q → R in VWS1. Ref.10		VAR_014978
	Natural variant	274	1	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. Ref.2 Ref.3 Ref.10 Ref.15 Corresponds to variant rs2235371 [ dbSNP | Ensembl ].		VAR_014979
	Natural variant	290 – 296	7	FTSKLLD → L in VWS1.		VAR_014980
	Natural variant	294	1	L → P in VWS1. Ref.10		VAR_014981
	Natural variant	297	1	V → I in VWS1. Ref.10		VAR_014982
	Natural variant	320	1	K → E in VWS1. Ref.10		VAR_014983
	Natural variant	321	1	V → M in VWS1. Ref.10		VAR_014984
	Natural variant	325	1	G → E in VWS1. Ref.10		VAR_014985
	Natural variant	339	1	R → I in VWS1. Ref.17		VAR_059080
	Natural variant	345	1	L → P in VWS1. Ref.10		VAR_014986
	Natural variant	347	1	C → F in VWS1. Ref.10		VAR_014987
	Natural variant	349	1	E → V in VWS1. Ref.16		VAR_030054
	Natural variant	369	1	F → S in VWS1 and OFC6. Ref.10 Ref.20		VAR_014988
	Natural variant	374	1	C → W in VWS1. Ref.10		VAR_014989
	Natural variant	388	1	K → E in VWS1. Ref.10		VAR_014990
	Natural variant	396	1	P → S in VWS1. Ref.13		VAR_030055
	Natural variant	400	1	R → W in VWS1. Ref.11 Corresponds to variant rs28942095 [ dbSNP | Ensembl ].		VAR_030056
	Natural variant	424	1	S → L in PPS; significant decrease of transcriptional activity. Ref.19		VAR_064476
	Natural variant	430	1	D → N in PPS. Ref.10		VAR_014991

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 1, 1998. Version 1. Checksum: 7E28F5E0F5BA4053	FASTA	467	53,130
	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
	Isoform 2 [UniParc]. Checksum: 2AF7C0699CE42FF0	FASTA	372	41,930
	10 20 30 40 50 60 MYDGTKEVPM NPVKIYQVCD IPQPQGSIIN PGSTGSAPWD EKDNDVDEED EEDELDQSQH 70 80 90 100 110 120 HVPIQDTFPF LNINGSPMAP ASVGNCSVGN CSPEAVWPKT EPLEMEVPQA PIQPFYSSPE 130 140 150 160 170 180 LWISSLPMTD LDIKFQYRGK EYGQTMTVSN PQGCRLFYGD LGPMPDQEEL FGPVSLEQVK 190 200 210 220 230 240 FPGPEHITNE KQKLFTSKLL DVMDRGLILE VSGHAIYAIR LCQCKVYWSG PCAPSLVAPN 250 260 270 280 290 300 LIERQKKVKL FCLETFLSDL IAHQKGQIEK QPPFEIYLCF GEEWPDGKPL ERKLILVQVI 310 320 330 340 350 360 PVVARMIYEM FSGDFTRSFD SGSVRLQIST PDIKDNIVAQ LKQLYRILQT QESWQPMQPT 370 PSMQLPPALP PQ

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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. , 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

GeneReviews

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.
IPI	IPI00024290. IPI01012366.
RefSeq	NP_006138.1. NM_006147.3.
UniGene	Hs.591415.
3D structure databases
ProteinModelPortal	O14896.
ModBase	Search...
Protein-protein interaction databases
IntAct	O14896. 3 interactions.
STRING	9606.ENSP00000355988.
PTM databases
PhosphoSite	O14896.
Proteomic databases
PaxDb	O14896.
PeptideAtlas	O14896.
PRIDE	O14896.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367021; ENSP00000355988; ENSG00000117595. ENST00000542854; ENSP00000440532; ENSG00000117595.
GeneID	3664.
KEGG	hsa:3664.
UCSC	uc001hhq.2. human.
Organism-specific databases
CTD	3664.
GeneCards	GC01M209959.
HGNC	HGNC:6121. IRF6.
MIM	119300. phenotype. 119500. phenotype. 607199. gene. 608864. phenotype.
neXtProt	NX_O14896.
Orphanet	1300. Autosomal dominant popliteal pterygium syndrome. 1991. Cleft lip with or without cleft palate. 888. Van Der Woude syndrome.
PharmGKB	PA29920.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45968.
HOGENOM	HOG000037433.
HOVERGEN	HBG105715.
InParanoid	O14896.
KO	K10154.
OMA	HEEENTI.
OrthoDB	EOG4NGGMH.
PhylomeDB	O14896.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	O14896.
Bgee	O14896.
CleanEx	HS_IRF6.
Genevestigator	O14896.
GermOnline	ENSG00000117595. Homo sapiens.
Family and domain databases
Gene3D	1.10.10.10. 1 hit. 2.60.200.10. 1 hit.
InterPro	IPR019817. 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]
Pfam	PF00605. IRF. 1 hit. PF10401. IRF-3. 1 hit. [Graphical view]
PRINTS	PR00267. INTFRNREGFCT.
SMART	SM00348. IRF. 1 hit. [Graphical view]
SUPFAM	SSF49879. SMAD_FHA. 1 hit.
PROSITE	PS00601. IRF_1. 1 hit. PS51507. IRF_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	IRF6. human.
GenomeRNAi	3664.
NextBio	14343.
SOURCE	Search...

Entry information

Entry name

IRF6_HUMAN

Accession

Primary (citable) accession number: O14896
Secondary accession number(s): B4DLE2 , D3DT90, F5GWX8, G0ZTL0

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
Last sequence update:	January 1, 1998
Last modified:	May 1, 2013
This is version 126 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.