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O14896

- IRF6_HUMAN

UniProt

O14896 - IRF6_HUMAN

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Protein
Interferon regulatory factor 6
Gene
IRF6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi7 – 115109IRF tryptophan pentad repeat
Add
BLAST

GO - Molecular functioni

  1. DNA binding Source: UniProtKB
  2. protein binding Source: UniProtKB
  3. regulatory region DNA binding Source: InterPro
  4. sequence-specific DNA binding transcription factor activity Source: UniProtKB

GO - Biological processi

  1. cell cycle arrest Source: UniProtKB
  2. cell development Source: Ensembl
  3. cytokine-mediated signaling pathway Source: Reactome
  4. interferon-gamma-mediated signaling pathway Source: Reactome
  5. keratinocyte differentiation Source: Ensembl
  6. keratinocyte proliferation Source: Ensembl
  7. mammary gland epithelial cell differentiation Source: UniProtKB
  8. negative regulation of cell proliferation Source: UniProtKB
  9. positive regulation of transcription, DNA-templated Source: UniProtKB
  10. transcription, DNA-templated Source: UniProtKB-KW
  11. type I interferon signaling pathway Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_25078. Interferon gamma signaling.
REACT_25162. Interferon alpha/beta signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon regulatory factor 6
Short name:
IRF-6
Gene namesi
Name:IRF6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:6121. IRF6.

Subcellular locationi

Nucleus Reviewed prediction. Cytoplasm
Note: Translocates to nucleus in response to an activating signal By similarity.2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. cytosol Source: Reactome
  3. extracellular vesicular exosome Source: UniProt
  4. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.8 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → V in VWS1. 2 Publications
Corresponds to variant rs28942093 [ dbSNP | Ensembl ].
VAR_014961
Natural varianti6 – 61R → C in VWS1. 1 Publication
Corresponds to variant rs28942094 [ dbSNP | Ensembl ].
VAR_030046
Natural varianti16 – 161A → V in VWS1. 1 Publication
VAR_030047
Natural varianti18 – 181V → A in VWS1; abrogates DNA binding. 2 Publications
VAR_014962
Natural varianti18 – 181V → M in VWS1; abrogates DNA binding. 2 Publications
VAR_014963
Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 2 Publications
VAR_030048
Natural varianti39 – 391P → A in VWS1. 1 Publication
VAR_014964
Natural varianti45 – 451R → Q in VWS1. 1 Publication
Corresponds to variant rs121434229 [ dbSNP | Ensembl ].
VAR_030049
Natural varianti61 – 611A → G in VWS1. 1 Publication
VAR_014966
Natural varianti64 – 641T → I in VWS1. 1 Publication
VAR_030050
Natural varianti70 – 701G → R in VWS1; does not affect DNA binding. 2 Publications
VAR_014968
Natural varianti76 – 761P → S in VWS1; abrogates DNA binding. 2 Publications
VAR_014969
Natural varianti84 – 841R → G in VWS1; abrogates DNA binding. 2 Publications
VAR_030051
Natural varianti88 – 881N → H in VWS1. 1 Publication
VAR_014973
Natural varianti90 – 901S → G in VWS1. 1 Publication
VAR_014975
Natural varianti98 – 981D → H in VWS1; abrogates DNA binding. 2 Publications
VAR_014976
Natural varianti100 – 1001T → A in VWS1. 1 Publication
VAR_030052
Natural varianti250 – 2501R → Q in VWS1. 1 Publication
VAR_014977
Natural varianti251 – 2511L → P in VWS1. 1 Publication
VAR_030053
Natural varianti273 – 2731Q → R in VWS1. 1 Publication
VAR_014978
Natural varianti290 – 2967FTSKLLD → L in VWS1.
VAR_014980
Natural varianti294 – 2941L → P in VWS1. 1 Publication
VAR_014981
Natural varianti297 – 2971V → I in VWS1. 1 Publication
VAR_014982
Natural varianti320 – 3201K → E in VWS1. 1 Publication
VAR_014983
Natural varianti321 – 3211V → M in VWS1. 1 Publication
VAR_014984
Natural varianti325 – 3251G → E in VWS1. 1 Publication
VAR_014985
Natural varianti339 – 3391R → I in VWS1. 1 Publication
VAR_059080
Natural varianti345 – 3451L → P in VWS1. 1 Publication
VAR_014986
Natural varianti347 – 3471C → F in VWS1. 1 Publication
VAR_014987
Natural varianti349 – 3491E → V in VWS1. 1 Publication
VAR_030054
Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
VAR_014988
Natural varianti374 – 3741C → W in VWS1. 1 Publication
VAR_014989
Natural varianti388 – 3881K → E in VWS1. 1 Publication
VAR_014990
Natural varianti396 – 3961P → S in VWS1. 1 Publication
VAR_030055
Natural varianti400 – 4001R → W in VWS1. 1 Publication
Corresponds to variant rs28942095 [ dbSNP | Ensembl ].
VAR_030056
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 2 Publications
VAR_030048
Natural varianti60 – 601W → G in PPS; abrogates DNA binding. 2 Publications
VAR_014965
Natural varianti66 – 661K → T in PPS. 1 Publication
VAR_014967
Natural varianti82 – 821Q → K in PPS. 1 Publication
VAR_014970
Natural varianti84 – 841R → C in PPS; abrogates DNA binding. 2 Publications
VAR_014971
Natural varianti84 – 841R → H in PPS; abrogates DNA binding. 2 Publications
VAR_014972
Natural varianti84 – 841R → L in PPS. 1 Publication
VAR_064475
Natural varianti89 – 891K → E in PPS; abrogates DNA binding. 2 Publications
VAR_014974
Natural varianti424 – 4241S → L in PPS; significant decrease of transcriptional activity. 1 Publication
VAR_064476
Natural varianti430 – 4301D → N in PPS. 1 Publication
VAR_014991
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.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
VAR_014988

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi119300. phenotype.
119500. phenotype.
608864. phenotype.
Orphaneti1300. Autosomal dominant popliteal pterygium syndrome.
1991. Cleft lip with or without cleft palate.
2227. Hypodontia.
99798. Oligodontia.
888. Van der Woude syndrome.
PharmGKBiPA29920.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 467467Interferon regulatory factor 6
PRO_0000154560Add
BLAST

Post-translational modificationi

Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and proteasome-mediated degradation.2 Publications

Keywords - PTMi

Ubl conjugation

Proteomic databases

MaxQBiO14896.
PaxDbiO14896.
PeptideAtlasiO14896.
PRIDEiO14896.

PTM databases

PhosphoSiteiO14896.

Expressioni

Tissue specificityi

Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.1 Publication

Gene expression databases

ArrayExpressiO14896.
BgeeiO14896.
CleanExiHS_IRF6.
GenevestigatoriO14896.

Interactioni

Subunit structurei

Interacts with SERPINB5.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
IRF8Q025563EBI-6115643,EBI-2866563

Protein-protein interaction databases

BioGridi109872. 9 interactions.
IntActiO14896. 3 interactions.
STRINGi9606.ENSP00000355988.

Structurei

3D structure databases

ProteinModelPortaliO14896.
SMRiO14896. Positions 12-112, 214-445.

Family & Domainsi

Sequence similaritiesi

Belongs to the IRF family.

Phylogenomic databases

eggNOGiNOG45968.
HOGENOMiHOG000037433.
HOVERGENiHBG105715.
InParanoidiO14896.
KOiK10154.
OMAiHEEENTI.
OrthoDBiEOG7CCBR1.
PhylomeDBiO14896.
TreeFamiTF328512.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
2.60.200.10. 1 hit.
InterProiIPR019817. 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]
PfamiPF00605. IRF. 1 hit.
PF10401. IRF-3. 1 hit.
[Graphical view]
PRINTSiPR00267. INTFRNREGFCT.
SMARTiSM00348. IRF. 1 hit.
[Graphical view]
SUPFAMiSSF49879. SSF49879. 1 hit.
PROSITEiPS00601. IRF_1. 1 hit.
PS51507. IRF_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O14896-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ    50
EEENTIFKAW AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT 100
KEVPMNPVKI YQVCDIPQPQ GSIINPGSTG SAPWDEKDND VDEEDEEDEL 150
DQSQHHVPIQ DTFPFLNING SPMAPASVGN CSVGNCSPEA VWPKTEPLEM 200
EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT MTVSNPQGCR 250
LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR 300
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET 350
FLSDLIAHQK GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR 400
MIYEMFSGDF TRSFDSGSVR LQISTPDIKD NIVAQLKQLY RILQTQESWQ 450
PMQPTPSMQL PPALPPQ 467
Length:467
Mass (Da):53,130
Last modified:January 1, 1998 - v1
Checksum:i7E28F5E0F5BA4053
GO
Isoform 2 (identifier: O14896-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-95: Missing.

Note: No experimental confirmation available.

Show »
Length:372
Mass (Da):41,930
Checksum:i2AF7C0699CE42FF0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21A → V in VWS1. 2 Publications
Corresponds to variant rs28942093 [ dbSNP | Ensembl ].
VAR_014961
Natural varianti6 – 61R → C in VWS1. 1 Publication
Corresponds to variant rs28942094 [ dbSNP | Ensembl ].
VAR_030046
Natural varianti16 – 161A → V in VWS1. 1 Publication
VAR_030047
Natural varianti18 – 181V → A in VWS1; abrogates DNA binding. 2 Publications
VAR_014962
Natural varianti18 – 181V → M in VWS1; abrogates DNA binding. 2 Publications
VAR_014963
Natural varianti22 – 221L → P in VWS1 and PPS; abrogates DNA binding. 2 Publications
VAR_030048
Natural varianti39 – 391P → A in VWS1. 1 Publication
VAR_014964
Natural varianti45 – 451R → Q in VWS1. 1 Publication
Corresponds to variant rs121434229 [ dbSNP | Ensembl ].
VAR_030049
Natural varianti60 – 601W → G in PPS; abrogates DNA binding. 2 Publications
VAR_014965
Natural varianti61 – 611A → G in VWS1. 1 Publication
VAR_014966
Natural varianti64 – 641T → I in VWS1. 1 Publication
VAR_030050
Natural varianti66 – 661K → T in PPS. 1 Publication
VAR_014967
Natural varianti70 – 701G → R in VWS1; does not affect DNA binding. 2 Publications
VAR_014968
Natural varianti76 – 761P → S in VWS1; abrogates DNA binding. 2 Publications
VAR_014969
Natural varianti82 – 821Q → K in PPS. 1 Publication
VAR_014970
Natural varianti84 – 841R → C in PPS; abrogates DNA binding. 2 Publications
VAR_014971
Natural varianti84 – 841R → G in VWS1; abrogates DNA binding. 2 Publications
VAR_030051
Natural varianti84 – 841R → H in PPS; abrogates DNA binding. 2 Publications
VAR_014972
Natural varianti84 – 841R → L in PPS. 1 Publication
VAR_064475
Natural varianti88 – 881N → H in VWS1. 1 Publication
VAR_014973
Natural varianti89 – 891K → E in PPS; abrogates DNA binding. 2 Publications
VAR_014974
Natural varianti90 – 901S → G in VWS1. 1 Publication
VAR_014975
Natural varianti98 – 981D → H in VWS1; abrogates DNA binding. 2 Publications
VAR_014976
Natural varianti100 – 1001T → A in VWS1. 1 Publication
VAR_030052
Natural varianti250 – 2501R → Q in VWS1. 1 Publication
VAR_014977
Natural varianti251 – 2511L → P in VWS1. 1 Publication
VAR_030053
Natural varianti273 – 2731Q → R in VWS1. 1 Publication
VAR_014978
Natural varianti274 – 2741V → 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. 4 Publications
Corresponds to variant rs2235371 [ dbSNP | Ensembl ].
VAR_014979
Natural varianti290 – 2967FTSKLLD → L in VWS1.
VAR_014980
Natural varianti294 – 2941L → P in VWS1. 1 Publication
VAR_014981
Natural varianti297 – 2971V → I in VWS1. 1 Publication
VAR_014982
Natural varianti320 – 3201K → E in VWS1. 1 Publication
VAR_014983
Natural varianti321 – 3211V → M in VWS1. 1 Publication
VAR_014984
Natural varianti325 – 3251G → E in VWS1. 1 Publication
VAR_014985
Natural varianti339 – 3391R → I in VWS1. 1 Publication
VAR_059080
Natural varianti345 – 3451L → P in VWS1. 1 Publication
VAR_014986
Natural varianti347 – 3471C → F in VWS1. 1 Publication
VAR_014987
Natural varianti349 – 3491E → V in VWS1. 1 Publication
VAR_030054
Natural varianti369 – 3691F → S in VWS1 and OFC6. 2 Publications
VAR_014988
Natural varianti374 – 3741C → W in VWS1. 1 Publication
VAR_014989
Natural varianti388 – 3881K → E in VWS1. 1 Publication
VAR_014990
Natural varianti396 – 3961P → S in VWS1. 1 Publication
VAR_030055
Natural varianti400 – 4001R → W in VWS1. 1 Publication
Corresponds to variant rs28942095 [ dbSNP | Ensembl ].
VAR_030056
Natural varianti424 – 4241S → L in PPS; significant decrease of transcriptional activity. 1 Publication
VAR_064476
Natural varianti430 – 4301D → N in PPS. 1 Publication
VAR_014991

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9595Missing in isoform 2.
VSP_046435Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1492.1. [O14896-1]
CCDS55681.1. [O14896-2]
RefSeqiNP_001193625.1. NM_001206696.1. [O14896-2]
NP_006138.1. NM_006147.3. [O14896-1]
UniGeneiHs.591415.

Genome annotation databases

EnsembliENST00000367021; ENSP00000355988; ENSG00000117595. [O14896-1]
ENST00000542854; ENSP00000440532; ENSG00000117595. [O14896-2]
GeneIDi3664.
KEGGihsa:3664.
UCSCiuc001hhq.2. human. [O14896-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1492.1. [O14896-1 ]
CCDS55681.1. [O14896-2 ]
RefSeqi NP_001193625.1. NM_001206696.1. [O14896-2 ]
NP_006138.1. NM_006147.3. [O14896-1 ]
UniGenei Hs.591415.

3D structure databases

ProteinModelPortali O14896.
SMRi O14896. Positions 12-112, 214-445.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109872. 9 interactions.
IntActi O14896. 3 interactions.
STRINGi 9606.ENSP00000355988.

PTM databases

PhosphoSitei O14896.

Proteomic databases

MaxQBi O14896.
PaxDbi O14896.
PeptideAtlasi O14896.
PRIDEi O14896.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367021 ; ENSP00000355988 ; ENSG00000117595 . [O14896-1 ]
ENST00000542854 ; ENSP00000440532 ; ENSG00000117595 . [O14896-2 ]
GeneIDi 3664.
KEGGi hsa:3664.
UCSCi uc001hhq.2. human. [O14896-1 ]

Organism-specific databases

CTDi 3664.
GeneCardsi GC01M209959.
GeneReviewsi IRF6.
HGNCi HGNC:6121. IRF6.
MIMi 119300. phenotype.
119500. phenotype.
607199. gene.
608864. phenotype.
neXtProti NX_O14896.
Orphaneti 1300. Autosomal dominant popliteal pterygium syndrome.
1991. Cleft lip with or without cleft palate.
2227. Hypodontia.
99798. Oligodontia.
888. Van der Woude syndrome.
PharmGKBi PA29920.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45968.
HOGENOMi HOG000037433.
HOVERGENi HBG105715.
InParanoidi O14896.
KOi K10154.
OMAi HEEENTI.
OrthoDBi EOG7CCBR1.
PhylomeDBi O14896.
TreeFami TF328512.

Enzyme and pathway databases

Reactomei REACT_25078. Interferon gamma signaling.
REACT_25162. Interferon alpha/beta signaling.

Miscellaneous databases

ChiTaRSi IRF6. human.
GeneWikii IRF6.
GenomeRNAii 3664.
NextBioi 14343.
PROi O14896.
SOURCEi Search...

Gene expression databases

ArrayExpressi O14896.
Bgeei O14896.
CleanExi HS_IRF6.
Genevestigatori O14896.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
2.60.200.10. 1 hit.
InterProi 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 ]
Pfami PF00605. IRF. 1 hit.
PF10401. IRF-3. 1 hit.
[Graphical view ]
PRINTSi PR00267. INTFRNREGFCT.
SMARTi SM00348. IRF. 1 hit.
[Graphical view ]
SUPFAMi SSF49879. SSF49879. 1 hit.
PROSITEi PS00601. IRF_1. 1 hit.
PS51507. IRF_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. 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. 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. Cited for: VARIANT OFC6 SER-369.

Entry informationi

Entry nameiIRF6_HUMAN
AccessioniPrimary (citable) accession number: O14896
Secondary accession number(s): B4DLE2
, D3DT90, F5GWX8, G0ZTL0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: September 3, 2014
This is version 141 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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