UniProtKB - O14896 (IRF6_HUMAN)
Protein
Interferon regulatory factor 6
Gene
IRF6
Organism
Homo sapiens (Human)
Status
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).By similarity
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 7 – 115 | IRF tryptophan pentad repeatPROSITE-ProRule annotationAdd BLAST | 109 |
GO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- sequence-specific DNA binding Source: NTNU_SB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
- transcription regulatory region sequence-specific DNA binding Source: InterPro
GO - Biological processi
- cell cycle arrest Source: UniProtKB
- cell development Source: Ensembl
- cranial skeletal system development Source: Ensembl
- immune system process Source: GO_Central
- interferon-gamma-mediated signaling pathway Source: Reactome
- keratinocyte differentiation Source: Ensembl
- keratinocyte proliferation Source: Ensembl
- limb development Source: Ensembl
- mammary gland epithelial cell differentiation Source: UniProtKB
- negative regulation of cell population proliferation Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: NTNU_SB
- type I interferon signaling pathway Source: Reactome
Keywordsi
Molecular function | DNA-binding |
Biological process | Differentiation, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O14896 |
Reactomei | R-HSA-877300, Interferon gamma signaling R-HSA-909733, Interferon alpha/beta signaling |
Names & Taxonomyi
Protein namesi | Recommended name: Interferon regulatory factor 6Short name: IRF-6 |
Gene namesi | Name:IRF6 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000117595.10 |
HGNCi | HGNC:6121, IRF6 |
MIMi | 607199, gene |
neXtProti | NX_O14896 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- cell junction Source: HPA
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Involvement in diseasei
Van der Woude syndrome 1 (VWS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014961 | 2 | A → V in VWS1. 2 PublicationsCorresponds to variant dbSNP:rs28942093EnsemblClinVar. | 1 | |
Natural variantiVAR_030046 | 6 | R → C in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942094EnsemblClinVar. | 1 | |
Natural variantiVAR_030047 | 16 | A → V in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014962 | 18 | V → A in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014963 | 18 | V → M in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_030048 | 22 | L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs387906967EnsemblClinVar. | 1 | |
Natural variantiVAR_014964 | 39 | P → A in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030049 | 45 | R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434229EnsemblClinVar. | 1 | |
Natural variantiVAR_014966 | 61 | A → G in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030050 | 64 | T → I in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014968 | 70 | G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs776236749Ensembl. | 1 | |
Natural variantiVAR_014969 | 76 | P → S in VWS1; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886039388EnsemblClinVar. | 1 | |
Natural variantiVAR_030051 | 84 | R → G in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014973 | 88 | N → H in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014975 | 90 | S → G in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014976 | 98 | D → H in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_030052 | 100 | T → A in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014977 | 250 | R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs1553247774EnsemblClinVar. | 1 | |
Natural variantiVAR_030053 | 251 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014978 | 273 | Q → R in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014980 | 290 – 296 | FTSKLLD → L in VWS1. 1 Publication | 7 | |
Natural variantiVAR_014981 | 294 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014982 | 297 | V → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs779827384EnsemblClinVar. | 1 | |
Natural variantiVAR_014983 | 320 | K → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014984 | 321 | V → M in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014985 | 325 | G → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_059080 | 339 | R → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434231EnsemblClinVar. | 1 | |
Natural variantiVAR_014986 | 345 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014987 | 347 | C → F in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030054 | 349 | E → V in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014988 | 369 | F → S in VWS1 and OFC6. 2 PublicationsCorresponds to variant dbSNP:rs1185412313Ensembl. | 1 | |
Natural variantiVAR_014989 | 374 | C → W in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014990 | 388 | K → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030055 | 396 | P → S in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434230EnsemblClinVar. | 1 | |
Natural variantiVAR_030056 | 400 | R → W in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942095EnsemblClinVar. | 1 |
Popliteal pterygium syndrome (PPS)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_030048 | 22 | L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs387906967EnsemblClinVar. | 1 | |
Natural variantiVAR_014965 | 60 | W → G in PPS; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014967 | 66 | K → T in PPS. 1 Publication | 1 | |
Natural variantiVAR_014970 | 82 | Q → K in PPS. 1 Publication | 1 | |
Natural variantiVAR_014971 | 84 | R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434226EnsemblClinVar. | 1 | |
Natural variantiVAR_014972 | 84 | R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434227EnsemblClinVar. | 1 | |
Natural variantiVAR_064475 | 84 | R → L in PPS. 1 PublicationCorresponds to variant dbSNP:rs121434227EnsemblClinVar. | 1 | |
Natural variantiVAR_014974 | 89 | K → E in PPS; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_064476 | 424 | S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906968EnsemblClinVar. | 1 | |
Natural variantiVAR_014991 | 430 | D → N in PPS. 1 Publication | 1 |
Non-syndromic orofacial cleft 6 (OFC6)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014988 | 369 | F → S in VWS1 and OFC6. 2 PublicationsCorresponds to variant dbSNP:rs1185412313Ensembl. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 3664 |
GeneReviewsi | IRF6 |
MalaCardsi | IRF6 |
MIMi | 119300, phenotype 119500, phenotype 608864, phenotype |
OpenTargetsi | ENSG00000117595 |
Orphaneti | 1300, Autosomal dominant popliteal pterygium syndrome 141291, Cleft lip and alveolus 199306, Cleft lip/palate 199302, Isolated cleft lip 2227, NON RARE IN EUROPE: Hypodontia 99798, Oligodontia 888, Van der Woude syndrome |
PharmGKBi | PA29920 |
Miscellaneous databases
Pharosi | O14896, Tbio |
Polymorphism and mutation databases
BioMutai | IRF6 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000154560 | 1 – 467 | Interferon regulatory factor 6Add BLAST | 467 |
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 conjugationProteomic databases
EPDi | O14896 |
jPOSTi | O14896 |
MassIVEi | O14896 |
MaxQBi | O14896 |
PaxDbi | O14896 |
PeptideAtlasi | O14896 |
PRIDEi | O14896 |
ProteomicsDBi | 24251 48286 [O14896-1] |
TopDownProteomicsi | O14896-1 [O14896-1] |
PTM databases
iPTMneti | O14896 |
PhosphoSitePlusi | O14896 |
Expressioni
Tissue specificityi
Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas.1 Publication
Gene expression databases
Bgeei | ENSG00000117595, Expressed in secondary oocyte and 185 other tissues |
ExpressionAtlasi | O14896, baseline and differential |
Genevisiblei | O14896, HS |
Organism-specific databases
HPAi | ENSG00000117595, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with SERPINB5.
1 PublicationBinary interactionsi
O14896
With | #Exp. | IntAct |
---|---|---|
IRF8 [Q02556] | 3 | EBI-6115643,EBI-2866563 |
Protein-protein interaction databases
BioGRIDi | 109872, 8 interactors |
IntActi | O14896, 3 interactors |
STRINGi | 9606.ENSP00000355988 |
Miscellaneous databases
RNActi | O14896, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the IRF family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | ENOG502QRNT, Eukaryota |
GeneTreei | ENSGT00940000157451 |
InParanoidi | O14896 |
OMAi | IQETFPF |
PhylomeDBi | O14896 |
TreeFami | TF328512 |
Family and domain databases
CDDi | cd00103, IRF, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 2.60.200.10, 1 hit |
InterProi | View protein in InterPro IPR019817, Interferon_reg_fac_CS IPR001346, Interferon_reg_fact_DNA-bd_dom IPR019471, Interferon_reg_factor-3 IPR017855, SMAD-like_dom_sf IPR008984, SMAD_FHA_dom_sf IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR11949, PTHR11949, 1 hit |
Pfami | View protein in Pfam PF00605, IRF, 1 hit PF10401, IRF-3, 1 hit |
PRINTSi | PR00267, INTFRNREGFCT |
SMARTi | View protein in SMART SM00348, IRF, 1 hit SM01243, IRF-3, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF49879, SSF49879, 1 hit |
PROSITEi | View protein in PROSITE PS00601, IRF_1, 1 hit PS51507, IRF_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O14896-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALHPRRVRL KPWLVAQVDS GLYPGLIWLH RDSKRFQIPW KHATRHSPQQ
60 70 80 90 100
EEENTIFKAW AVETGKYQEG VDDPDPAKWK AQLRCALNKS REFNLMYDGT
110 120 130 140 150
KEVPMNPVKI YQVCDIPQPQ GSIINPGSTG SAPWDEKDND VDEEDEEDEL
160 170 180 190 200
DQSQHHVPIQ DTFPFLNING SPMAPASVGN CSVGNCSPEA VWPKTEPLEM
210 220 230 240 250
EVPQAPIQPF YSSPELWISS LPMTDLDIKF QYRGKEYGQT MTVSNPQGCR
260 270 280 290 300
LFYGDLGPMP DQEELFGPVS LEQVKFPGPE HITNEKQKLF TSKLLDVMDR
310 320 330 340 350
GLILEVSGHA IYAIRLCQCK VYWSGPCAPS LVAPNLIERQ KKVKLFCLET
360 370 380 390 400
FLSDLIAHQK GQIEKQPPFE IYLCFGEEWP DGKPLERKLI LVQVIPVVAR
410 420 430 440 450
MIYEMFSGDF TRSFDSGSVR LQISTPDIKD NIVAQLKQLY RILQTQESWQ
460
PMQPTPSMQL PPALPPQ
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1AJU4 | B1AJU4_HUMAN | Interferon regulatory factor 6 | IRF6 | 276 | Annotation score: | ||
A0A2R8YHF3 | A0A2R8YHF3_HUMAN | Interferon regulatory factor 6 | IRF6 | 179 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_014961 | 2 | A → V in VWS1. 2 PublicationsCorresponds to variant dbSNP:rs28942093EnsemblClinVar. | 1 | |
Natural variantiVAR_030046 | 6 | R → C in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942094EnsemblClinVar. | 1 | |
Natural variantiVAR_030047 | 16 | A → V in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014962 | 18 | V → A in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014963 | 18 | V → M in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_030048 | 22 | L → P in VWS1 and PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs387906967EnsemblClinVar. | 1 | |
Natural variantiVAR_014964 | 39 | P → A in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030049 | 45 | R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434229EnsemblClinVar. | 1 | |
Natural variantiVAR_014965 | 60 | W → G in PPS; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014966 | 61 | A → G in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030050 | 64 | T → I in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014967 | 66 | K → T in PPS. 1 Publication | 1 | |
Natural variantiVAR_014968 | 70 | G → R in VWS1; does not affect DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs776236749Ensembl. | 1 | |
Natural variantiVAR_014969 | 76 | P → S in VWS1; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs886039388EnsemblClinVar. | 1 | |
Natural variantiVAR_014970 | 82 | Q → K in PPS. 1 Publication | 1 | |
Natural variantiVAR_014971 | 84 | R → C in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434226EnsemblClinVar. | 1 | |
Natural variantiVAR_030051 | 84 | R → G in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014972 | 84 | R → H in PPS; abrogates DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs121434227EnsemblClinVar. | 1 | |
Natural variantiVAR_064475 | 84 | R → L in PPS. 1 PublicationCorresponds to variant dbSNP:rs121434227EnsemblClinVar. | 1 | |
Natural variantiVAR_014973 | 88 | N → H in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014974 | 89 | K → E in PPS; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_014975 | 90 | S → G in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014976 | 98 | D → H in VWS1; abrogates DNA binding. 2 Publications | 1 | |
Natural variantiVAR_030052 | 100 | T → A in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014977 | 250 | R → Q in VWS1. 1 PublicationCorresponds to variant dbSNP:rs1553247774EnsemblClinVar. | 1 | |
Natural variantiVAR_030053 | 251 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014978 | 273 | Q → R in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014979 | 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. 3 PublicationsCorresponds to variant dbSNP:rs2235371EnsemblClinVar. | 1 | |
Natural variantiVAR_014980 | 290 – 296 | FTSKLLD → L in VWS1. 1 Publication | 7 | |
Natural variantiVAR_014981 | 294 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014982 | 297 | V → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs779827384EnsemblClinVar. | 1 | |
Natural variantiVAR_014983 | 320 | K → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014984 | 321 | V → M in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014985 | 325 | G → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_059080 | 339 | R → I in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434231EnsemblClinVar. | 1 | |
Natural variantiVAR_014986 | 345 | L → P in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014987 | 347 | C → F in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030054 | 349 | E → V in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014988 | 369 | F → S in VWS1 and OFC6. 2 PublicationsCorresponds to variant dbSNP:rs1185412313Ensembl. | 1 | |
Natural variantiVAR_014989 | 374 | C → W in VWS1. 1 Publication | 1 | |
Natural variantiVAR_014990 | 388 | K → E in VWS1. 1 Publication | 1 | |
Natural variantiVAR_030055 | 396 | P → S in VWS1. 1 PublicationCorresponds to variant dbSNP:rs121434230EnsemblClinVar. | 1 | |
Natural variantiVAR_030056 | 400 | R → W in VWS1. 1 PublicationCorresponds to variant dbSNP:rs28942095EnsemblClinVar. | 1 | |
Natural variantiVAR_064476 | 424 | S → L in PPS; significant decrease of transcriptional activity. 1 PublicationCorresponds to variant dbSNP:rs387906968EnsemblClinVar. | 1 | |
Natural variantiVAR_014991 | 430 | D → N in PPS. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046435 | 1 – 95 | Missing in isoform 2. 1 PublicationAdd BLAST | 95 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF027292 mRNA Translation: AAB84111.1 JF346417 Genomic DNA Translation: AEL89176.1 AK296960 mRNA Translation: BAG59504.1 AL022398 Genomic DNA No translation available. 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] |
Genome annotation databases
Ensembli | ENST00000367021; ENSP00000355988; ENSG00000117595 [O14896-1] ENST00000542854; ENSP00000440532; ENSG00000117595 [O14896-2] |
GeneIDi | 3664 |
KEGGi | hsa:3664 |
UCSCi | uc001hhq.3, human [O14896-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF027292 mRNA Translation: AAB84111.1 JF346417 Genomic DNA Translation: AEL89176.1 AK296960 mRNA Translation: BAG59504.1 AL022398 Genomic DNA No translation available. 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] |
3D structure databases
SMRi | O14896 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109872, 8 interactors |
IntActi | O14896, 3 interactors |
STRINGi | 9606.ENSP00000355988 |
PTM databases
iPTMneti | O14896 |
PhosphoSitePlusi | O14896 |
Polymorphism and mutation databases
BioMutai | IRF6 |
Proteomic databases
EPDi | O14896 |
jPOSTi | O14896 |
MassIVEi | O14896 |
MaxQBi | O14896 |
PaxDbi | O14896 |
PeptideAtlasi | O14896 |
PRIDEi | O14896 |
ProteomicsDBi | 24251 48286 [O14896-1] |
TopDownProteomicsi | O14896-1 [O14896-1] |
Protocols and materials databases
Antibodypediai | 20702, 399 antibodies |
Genome annotation databases
Ensembli | ENST00000367021; ENSP00000355988; ENSG00000117595 [O14896-1] ENST00000542854; ENSP00000440532; ENSG00000117595 [O14896-2] |
GeneIDi | 3664 |
KEGGi | hsa:3664 |
UCSCi | uc001hhq.3, human [O14896-1] |
Organism-specific databases
CTDi | 3664 |
DisGeNETi | 3664 |
EuPathDBi | HostDB:ENSG00000117595.10 |
GeneCardsi | IRF6 |
GeneReviewsi | IRF6 |
HGNCi | HGNC:6121, IRF6 |
HPAi | ENSG00000117595, Low tissue specificity |
MalaCardsi | IRF6 |
MIMi | 119300, phenotype 119500, phenotype 607199, gene 608864, phenotype |
neXtProti | NX_O14896 |
OpenTargetsi | ENSG00000117595 |
Orphaneti | 1300, Autosomal dominant popliteal pterygium syndrome 141291, Cleft lip and alveolus 199306, Cleft lip/palate 199302, Isolated cleft lip 2227, NON RARE IN EUROPE: Hypodontia 99798, Oligodontia 888, Van der Woude syndrome |
PharmGKBi | PA29920 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRNT, Eukaryota |
GeneTreei | ENSGT00940000157451 |
InParanoidi | O14896 |
OMAi | IQETFPF |
PhylomeDBi | O14896 |
TreeFami | TF328512 |
Enzyme and pathway databases
PathwayCommonsi | O14896 |
Reactomei | R-HSA-877300, Interferon gamma signaling R-HSA-909733, Interferon alpha/beta signaling |
Miscellaneous databases
BioGRID-ORCSi | 3664, 3 hits in 868 CRISPR screens |
ChiTaRSi | IRF6, human |
GeneWikii | IRF6 |
GenomeRNAii | 3664 |
Pharosi | O14896, Tbio |
PROi | PR:O14896 |
RNActi | O14896, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000117595, Expressed in secondary oocyte and 185 other tissues |
ExpressionAtlasi | O14896, baseline and differential |
Genevisiblei | O14896, HS |
Family and domain databases
CDDi | cd00103, IRF, 1 hit |
Gene3Di | 1.10.10.10, 1 hit 2.60.200.10, 1 hit |
InterProi | View protein in InterPro IPR019817, Interferon_reg_fac_CS IPR001346, Interferon_reg_fact_DNA-bd_dom IPR019471, Interferon_reg_factor-3 IPR017855, SMAD-like_dom_sf IPR008984, SMAD_FHA_dom_sf IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR11949, PTHR11949, 1 hit |
Pfami | View protein in Pfam PF00605, IRF, 1 hit PF10401, IRF-3, 1 hit |
PRINTSi | PR00267, INTFRNREGFCT |
SMARTi | View protein in SMART SM00348, IRF, 1 hit SM01243, IRF-3, 1 hit |
SUPFAMi | SSF46785, SSF46785, 1 hit SSF49879, SSF49879, 1 hit |
PROSITEi | View protein in PROSITE PS00601, IRF_1, 1 hit PS51507, IRF_2, 1 hit |
ProtoNeti | Search... |
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Entry informationi
Entry namei | IRF6_HUMAN | |
Accessioni | O14896Primary (citable) accession number: O14896 Secondary accession number(s): B4DLE2 G0ZTL0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | January 1, 1998 | |
Last modified: | December 2, 2020 | |
This is version 193 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations