IRF6

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 activator activity, RNA polymerase II-specific Source: Ensembl
DNA-binding transcription factor activity Source: UniProtKB
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
RNA polymerase II cis-regulatory region sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
  Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
  Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
sequence-specific DNA binding
Source: NTNU_SB
Inferred from direct assayⁱ
- "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
  Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
  Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]
sequence-specific double-stranded DNA binding
Source: ARUK-UCL
Inferred from direct assayⁱ
- "Impact of cytosine methylation on DNA binding specificities of human transcription factors."
  Yin Y., Morgunova E., Jolma A., Kaasinen E., Sahu B., Khund-Sayeed S., Das P.K., Kivioja T., Dave K., Zhong F., Nitta K.R., Taipale M., Popov A., Ginno P.A., Domcke S., Yan J., Schubeler D., Vinson C., Taipale J.
  Science 356:0-0(2017) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

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 6 Short name: IRF-6
Gene namesⁱ	Name:IRF6
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6121, IRF6
MIMⁱ	607199, gene
neXtProtⁱ	NX_O14896
VEuPathDBⁱ	HostDB:ENSG00000117595.10

Keywords - Cellular componentⁱ

Cytoplasm, Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Van der Woude syndrome 1 (VWS1)8 Publications

The disease is caused by variants 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 OMIM

Feature key	Position(s)	DescriptionActions	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 variants 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 OMIM

Feature key	Position(s)	DescriptionActions	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 variants 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 OMIM

Feature 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 variant

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3664
GeneReviewsⁱ	IRF6
MalaCards human disease database More...MalaCardsⁱ	IRF6
MIMⁱ	119300, phenotype 119500, phenotype 608864, phenotype
Open Targets More...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

Pharosⁱ

O14896, Tbio

Genetic variation databases

BioMutaⁱ	IRF6

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 conjugation

Proteomic databases

EPDⁱ	O14896
jPOSTⁱ	O14896
MassIVEⁱ	O14896
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O14896
PaxDbⁱ	O14896
PeptideAtlas More...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 186 other tissues
ExpressionAtlasⁱ	O14896, baseline and differential
Genevisibleⁱ	O14896, HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	ENSG00000117595, Low tissue specificity

HPAⁱ

ENSG00000117595, Low tissue specificity

Interactionⁱ

Subunit structureⁱ

Interacts with SERPINB5.

1 Publication

Binary interactionsⁱ

O14896

With	#Exp.	IntAct
IRF8 [Q02556]	3	EBI-6115643,EBI-2866563

Protein-protein interaction databases

BioGRIDⁱ	109872, 8 interactors
IntActⁱ	O14896, 13 interactors
STRINGⁱ	9606.ENSP00000355988

Miscellaneous databases

RNActⁱ	O14896, protein

RNActⁱ

O14896, protein

Structureⁱ

3D structure databases

SMRⁱ	O14896
ModBaseⁱ	Search...

Family & Domainsⁱ

Region

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Regionⁱ	121 – 156	DisorderedSequence analysisAdd BLAST		36

Sequence similaritiesⁱ

Belongs to the IRF family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGⁱ	ENOG502QRNT, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000157451
InParanoidⁱ	O14896
OMAⁱ	IQETFPF
PhylomeDBⁱ	O14896
TreeFamⁱ	TF328512

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...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

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: O14896-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the canonicalⁱ 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

        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

Length:467

Mass (Da):53,130

Last modified:January 1, 1998 - v1

Checksum:ⁱ7E28F5E0F5BA4053

GO

Isoform 2 (identifier: O14896-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MYDGTKEVPM NPVKIYQVCD IPQPQGSIIN PGSTGSAPWD EKDNDVDEED 
        60         70         80         90        100
EEDELDQSQH HVPIQDTFPF LNINGSPMAP ASVGNCSVGN CSPEAVWPKT 
       110        120        130        140        150
EPLEMEVPQA PIQPFYSSPE LWISSLPMTD LDIKFQYRGK EYGQTMTVSN 
       160        170        180        190        200
PQGCRLFYGD LGPMPDQEEL FGPVSLEQVK FPGPEHITNE KQKLFTSKLL 
       210        220        230        240        250
DVMDRGLILE VSGHAIYAIR LCQCKVYWSG PCAPSLVAPN LIERQKKVKL 
       260        270        280        290        300
FCLETFLSDL IAHQKGQIEK QPPFEIYLCF GEEWPDGKPL ERKLILVQVI 
       310        320        330        340        350
PVVARMIYEM FSGDFTRSFD SGSVRLQIST PDIKDNIVAQ LKQLYRILQT 
       360        370 
QESWQPMQPT PSMQLPPALP PQ

Show »

Length:372

Mass (Da):41,930

Checksum:ⁱ2AF7C0699CE42FF0

GO

Computationally mapped potential isoform sequencesⁱ

There are 2 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

B1AJU4	B1AJU4_HUMAN	Interferon regulatory factor 6 Interferon regulatory factor 6	IRF6	276	Annotation score:
A0A2R8YHF3	A0A2R8YHF3_HUMAN	Interferon regulatory factor 6 Interferon regulatory factor 6	IRF6	179	Annotation score:

Natural variant

Feature key	Position(s)	DescriptionActions	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 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS1492.1 [O14896-1] CCDS55681.1 [O14896-2]
NCBI Reference Sequences More...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
UCSC genome browser More...UCSCⁱ	uc001hhq.3, human [O14896-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O14896	Interferon regulatory factor 6		HUMAN		467	UniRef100_O14896
Interferon regulatory factor 6		MACMU		467
Uncharacterized protein		PONAB		467
Interferon regulatory factor 6		PANTR		467
Interferon regulatory factor 6		CERAT		467
+16

Protein	Similar proteins		Species	Score	Length	Source
O14896	Interferon regulatory factor 6		MOUSE		467	UniRef90_O14896
Interferon regulatory factor 6		HUMAN		467
Interferon regulatory factor 6		MACMU		467
Uncharacterized protein		PONAB		467
Interferon regulatory factor 6		PANTR		467
+98

Protein	Similar proteins		Species	Score	Length	Source
O14896	Interferon regulatory factor 6		MOUSE		467	UniRef50_O14896
Interferon regulatory factor 6		BOVIN		467
Interferon regulatory factor 6		HUMAN		467
Interferon regulatory factor 6		MACMU		467
Uncharacterized protein		PONAB		467
+502

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, 13 interactors
STRINGⁱ	9606.ENSP00000355988

PTM databases

iPTMnetⁱ	O14896
PhosphoSitePlusⁱ	O14896

Genetic variation databases

BioMutaⁱ	IRF6

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, 410 antibodies
The DNASU plasmid repository More...DNASUⁱ	3664

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
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
VEuPathDBⁱ	HostDB:ENSG00000117595.10
GenAtlas: human gene database More...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, 4 hits in 1013 CRISPR screens
ChiTaRSⁱ	IRF6, human
GeneWikiⁱ	IRF6
GenomeRNAiⁱ	3664
Pharosⁱ	O14896, Tbio
Protein Ontology More...PROⁱ	PR:O14896
RNActⁱ	O14896, protein
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000117595, Expressed in secondary oocyte and 186 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
MobiDBⁱ	Search...

Entry informationⁱ

Entry nameⁱ	IRF6_HUMAN
Accessionⁱ	O14896Primary (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:	June 2, 2021
	This is version 196 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 proteome

Documents

Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM
Human entries with genetic variants
List of human entries with genetic variants
Human variants curated from literature reports
Index of human variants curated from literature reports
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

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UniProtKB - O14896 (IRF6_HUMAN)

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Interferon regulatory factor 6

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

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GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

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Extracellular region or secreted

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Keywords - Cellular componenti

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Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

O14896

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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Keywords - Coding sequence diversityi

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Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

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Organism-specific databases

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Enzyme and pathway databases

Miscellaneous databases

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ