LOCUS       NM_006147               4478 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens interferon regulatory factor 6 (IRF6), transcript
            variant 1, mRNA.
ACCESSION   NM_006147
VERSION     NM_006147.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4478)
  AUTHORS   Antiguas,A. and Dunnwald,M.
  TITLE     A novel noncanonical function for IRF6 in the recycling of
            E-cadherin
  JOURNAL   Mol Biol Cell 35 (7), ar102 (2024)
   PUBMED   38809584
  REMARK    GeneRIF: A novel noncanonical function for IRF6 in the recycling of
            E-cadherin.
REFERENCE   2  (bases 1 to 4478)
  AUTHORS   Zhang,S.D., You,Y., Yao,M.L., Shi,B. and Jia,Z.L.
  TITLE     Review on the Role of IRF6 in the Pathogenesis of Non-syndromic
            Orofacial Clefts
  JOURNAL   Chin J Dent Res 27 (1), 29-38 (2024)
   PUBMED   38546517
  REMARK    GeneRIF: Review on the Role of IRF6 in the Pathogenesis of
            Non-syndromic Orofacial Clefts.
            Review article
REFERENCE   3  (bases 1 to 4478)
  AUTHORS   Hong,S., Fu,N., Sang,S., Ma,X., Sun,F. and Zhang,X.
  TITLE     Identification and validation of IRF6 related to ovarian cancer and
            biological function and prognostic value
  JOURNAL   J Ovarian Res 17 (1), 64 (2024)
   PUBMED   38493179
  REMARK    GeneRIF: Identification and validation of IRF6 related to ovarian
            cancer and biological function and prognostic value.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4478)
  AUTHORS   Sinha,B.K., Kumar,D., Meher,P., Kumari,S., Prakash,K., Gourinath,S.
            and Kashav,T.
  TITLE     Biophysical and functional characterization of N-terminal domain of
            Human Interferon Regulatory Factor 6
  JOURNAL   Mol Biol Rep 51 (1), 380 (2024)
   PUBMED   38429584
  REMARK    GeneRIF: Biophysical and functional characterization of N-terminal
            domain of Human Interferon Regulatory Factor 6.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4478)
  AUTHORS   Calvo,S.E., Pagliarini,D.J. and Mootha,V.K.
  TITLE     Upstream open reading frames cause widespread reduction of protein
            expression and are polymorphic among humans
  JOURNAL   Proc Natl Acad Sci U S A 106 (18), 7507-7512 (2009)
   PUBMED   19372376
  REMARK    GeneRIF: Includes the study of a disease-related upstream ORF in
            this gene, and shows that it functions to reduce protein levels by
            ~96%.
REFERENCE   6  (bases 1 to 4478)
  AUTHORS   Wang,X., Liu,J., Zhang,H., Xiao,M., Li,J., Yang,C., Lin,X., Wu,Z.,
            Hu,L. and Kong,X.
  TITLE     Novel mutations in the IRF6 gene for Van der Woude syndrome
  JOURNAL   Hum Genet 113 (5), 382-386 (2003)
   PUBMED   12920575
  REMARK    GeneRIF: An identification of three missense mutatins and one
            nonsense mutation in IRF6
REFERENCE   7  (bases 1 to 4478)
  AUTHORS   Kondo,S., Schutte,B.C., Richardson,R.J., Bjork,B.C., Knight,A.S.,
            Watanabe,Y., Howard,E., de Lima,R.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. and Murray,J.C.
  TITLE     Mutations in IRF6 cause Van der Woude and popliteal pterygium
            syndromes
  JOURNAL   Nat Genet 32 (2), 285-289 (2002)
   PUBMED   12219090
  REMARK    GeneRIF: Mutations in IRF6 cause Van der Woude and popliteal
            pterygium syndromes
REFERENCE   8  (bases 1 to 4478)
  AUTHORS   Lees,M.M., Winter,R.M., Malcolm,S., Saal,H.M. and Chitty,L.
  TITLE     Popliteal pterygium syndrome: a clinical study of three families
            and report of linkage to the Van der Woude syndrome locus on 1q32
  JOURNAL   J Med Genet 36 (12), 888-892 (1999)
   PUBMED   10593995
REFERENCE   9  (bases 1 to 4478)
  AUTHORS   Schutte,B.C., Saal,H.M., Goudy,S. and Leslie,E.J.
  TITLE     IRF6-Related Disorders
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301581
REFERENCE   10 (bases 1 to 4478)
  AUTHORS   Bocian,M. and Walker,A.P.
  TITLE     Lip pits and deletion 1q32----41
  JOURNAL   Am J Med Genet 26 (2), 437-443 (1987)
   PUBMED   3812594
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA016081.1, BC014852.1 and
            AL022398.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006147.3.
            
            Summary: This gene encodes a member of the interferon regulatory
            transcription factor (IRF) family. Family members share a
            highly-conserved N-terminal helix-turn-helix DNA-binding domain and
            a less conserved C-terminal protein-binding domain. The encoded
            protein may be a transcriptional activator. Mutations in this gene
            can cause van der Woude syndrome and popliteal pterygium syndrome.
            Mutations in this gene are also associated with non-syndromic
            orofacial cleft type 6. Alternate splicing results in multiple
            transcript variants.[provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.2848.1,
                                           SRR11853565.2773.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367021.8/ ENSP00000355988.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                DA016081.1         34-131
            99-1797             BC014852.1         1-1699
            1798-4478           AL022398.1         64701-67381         c
FEATURES             Location/Qualifiers
     source          1..4478
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.2"
     gene            1..4478
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /note="interferon regulatory factor 6"
                     /db_xref="GeneID:3664"
                     /db_xref="HGNC:HGNC:6121"
                     /db_xref="MIM:607199"
     exon            1..196
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            197..268
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            269..445
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             272..1675
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="interferon regulatory factor 6 isoform 1"
                     /protein_id="NP_006138.1"
                     /db_xref="CCDS:CCDS1492.1"
                     /db_xref="GeneID:3664"
                     /db_xref="HGNC:HGNC:6121"
                     /db_xref="MIM:607199"
                     /translation="MALHPRRVRLKPWLVAQVDSGLYPGLIWLHRDSKRFQIPWKHAT
                     RHSPQQEEENTIFKAWAVETGKYQEGVDDPDPAKWKAQLRCALNKSREFNLMYDGTKE
                     VPMNPVKIYQVCDIPQPQGSIINPGSTGSAPWDEKDNDVDEEDEEDELDQSQHHVPIQ
                     DTFPFLNINGSPMAPASVGNCSVGNCSPEAVWPKTEPLEMEVPQAPIQPFYSSPELWI
                     SSLPMTDLDIKFQYRGKEYGQTMTVSNPQGCRLFYGDLGPMPDQEELFGPVSLEQVKF
                     PGPEHITNEKQKLFTSKLLDVMDRGLILEVSGHAIYAIRLCQCKVYWSGPCAPSLVAP
                     NLIERQKKVKLFCLETFLSDLIAHQKGQIEKQPPFEIYLCFGEEWPDGKPLERKLILV
                     QVIPVVARMIYEMFSGDFTRSFDSGSVRLQISTPDIKDNIVAQLKQLYRILQTQESWQ
                     PMQPTPSMQLPPALPPQ"
     exon            446..650
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            651..779
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            780..938
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1331
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1450
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1451..4478
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4386..4391
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /note="hexamer: AATAAA"
     polyA_site      4404
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /note="major polyA site"
     regulatory      4448..4453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
                     /note="hexamer: AATAAA"
     polyA_site      4478
                     /gene="IRF6"
                     /gene_synonym="LPS; OFC6; PIT; PPS; PPS1; VWS; VWS1"
ORIGIN      
        1 gctgacgtga gctcggcgca cctgggctgg gcaggtaagg gctggtgcgg gacggggaga
       61 ggaacctgca gtccctactt gggtagagcc aggcgcccct tggctaagac gtcgaggagc
      121 gtggtagcga cgggtgatct tcgctgcgga cttggttcgg agggacgtcc gcttctggtg
      181 gacagattga gcaaagaatc tttgagcggt caagggaaag acaagccgac tcttcagatc
      241 cctgtggaca cactgcctgc tcttccatat catggccctc cacccccgca gagtccggct
      301 aaagccctgg ctggtggccc aggtggatag tggcctctac cctgggctca tctggctaca
      361 cagggactct aaacgcttcc agattccctg gaaacatgcc acccggcata gccctcaaca
      421 agaagaggaa aataccattt ttaaggcctg ggctgtagag acagggaagt accaggaagg
      481 ggtggatgac cctgacccag ctaaatggaa ggcccagctg cgctgtgctc tcaataagag
      541 cagagaattc aacctgatgt atgatggcac caaggaggtg cccatgaacc cagtgaagat
      601 atatcaagtg tgtgacatcc ctcagcccca gggctcgatc attaacccag gatccacagg
      661 gtctgctccc tgggatgaga aggataatga tgtggatgaa gaagatgagg aagatgagct
      721 ggatcagtcg cagcaccatg ttcccatcca ggacaccttc cccttcctga acatcaatgg
      781 ttctcccatg gcgccagcca gtgtgggcaa ttgcagtgtg ggcaactgca gcccggaggc
      841 agtgtggccc aaaactgaac ccctggagat ggaagtaccc caggcaccta tacagccctt
      901 ctatagctct ccagaactgt ggatcagctc tctcccaatg actgacctgg acatcaagtt
      961 tcagtaccgt gggaaggagt acgggcagac catgaccgtg agcaaccctc agggctgccg
     1021 actcttctat ggggacctgg gtcccatgcc tgaccaggag gagctctttg gtcccgtcag
     1081 cctggagcag gtcaaattcc caggtcctga gcatattacc aatgagaagc agaagctgtt
     1141 cactagcaag ctgctggacg tcatggacag aggactgatc ctggaggtca gcggtcatgc
     1201 catttatgcc atcaggctgt gccagtgcaa ggtgtactgg tctgggccat gtgccccatc
     1261 acttgttgct cccaacctga ttgagagaca aaagaaggtc aagctatttt gtctggaaac
     1321 attccttagc gatctcattg cccaccagaa aggacagata gagaagcagc caccgtttga
     1381 gatctactta tgctttgggg aagaatggcc agatgggaaa ccattggaaa ggaaactcat
     1441 cttggttcag gtcattccag tagtggctcg gatgatctac gagatgtttt ctggtgattt
     1501 cacacgatcc tttgatagtg gcagtgtccg cctgcagatc tcaaccccag acatcaagga
     1561 taacatcgtt gctcagctga agcagctgta ccgcatcctt caaacccagg agagctggca
     1621 gcccatgcag cccaccccca gcatgcaact gccccctgcc ctgcctcccc agtaattgtg
     1681 aatgccatct tcttccttct cttttttata atattgtaca tatggatttt tttattgttt
     1741 agatttaacc agcttttaaa tctctctttt ctctaacagt gttagaagtt tgtgattctc
     1801 caaatatgcc tagatttaaa gctgatttaa tttatggaaa aatcaccctt cagactttgc
     1861 ttttcttttt caaatctcct aatggtagta tgatatagca tagtagaagg agatttggcc
     1921 tgggagtttg gacaccaaag ttctagctgc agctttgctt ccaatgtgac cttgaacaag
     1981 tcctttaacc tctgggcttc agatttattg cttataaagt gaagagattg gagtagtgcc
     2041 tgaaattgca tccagcttta gaacggactc aatgaccttc ttctacttgt acaaggctaa
     2101 actgcctgga acagaatcct tctgcattgt tcttgtacca catttttcct tggttttgtt
     2161 aaagtttcct caagcactga tttgtccagg atcgagctct gtttgacctg ttctgctagt
     2221 atagtaagct ggctccctga tgggggaagt gagagggaga ggagctggct ggctggttgc
     2281 ttagaaacta tgcttgatat ctaaatagaa atgggtgcca aagtctgaaa gtcacccagc
     2341 ctgtggagtg aaagctcaca aatttggctt ctaaagggaa gctgttgaca cagaaagcct
     2401 agggattctg tggaagaata ggttgtcagg catttacctt attaccactc aaataccagt
     2461 gtgtgtgtgt tgggggggcg gcagggagag ggggtaggtg acagtatgtg actcaggtgt
     2521 tagctttaag aggaaagagc tctatttttc ttgttttctt ctctgagcta gactgagctg
     2581 gggatctaag atgtacttct ctgactacaa aagggacagt atcatttaga ttttttgcag
     2641 ttggaagaaa tgggttgttg agtgtgttaa ggctgggatg aagaagggct gggcagtact
     2701 cttctggaaa ggctcaccta gcacgaacct gcttgtctcc cttactagtg gaggtatctg
     2761 agtgtgaaca gtgaaggtaa agagtggtat agaacaatgc agctgtatct gtcacaaact
     2821 ggtcttatct agaaacatct gctgagtctc taaccctttc agctttctct tcttttttga
     2881 gacagagtct tgctttgttg cccaggctgg agtgcagtgg caagtcacca cttactgcag
     2941 ctttaagctc ctgggctcaa gcaatcgtcc tgccccagcc tcctgagtag ttgggacaac
     3001 agtcgtgcac tatgatgctt ggctaatttt ttttttattt ttgtagagat gaggtcttgc
     3061 tatgttgccc aggctggtct tgaactcctg ggctcaagca atctgggacc taaatggcaa
     3121 ataagatgct aatctgtggt tgcaagcccc agtcctcttg aatagtgatg cctatctgtc
     3181 tgtgtcggga catagtaagg aagcccatgt ctagtctggt acctttaaac caggccatct
     3241 ccaacttttc aaaatgactc aaaagttgag ctagccttat tttaaaaact aaaagttcaa
     3301 aatcagtggt gacatgagga cttatttatt taaagtgctt aagccttggt tttagagttt
     3361 ctaagagacc tagtggaatt tgctattatg aaaagcatga aaagattaag aaacctggct
     3421 aaaggtcagg tgcccagctt cgaggaaaag ttgggctttt agggaccggg aagcattaaa
     3481 ggcacagaaa ctttacattt tgggggtcat tttgttgagt aggtgaagtg agggatttgg
     3541 gcttgatatt tggctgcccc atctctacgt gggaactcaa agttaaaaac ccactgtagg
     3601 taaattagaa gggcagctct tgaatctggg ccagtctata tcccttctgt gaagtgctaa
     3661 cagccaggct atctgtagcc tgggtgggag cccagataat gtgagctggt aaagggtatt
     3721 ggaaaagtgc caagaaatgc caagcttttg gttcgtaacc actataaaaa gtttatgaac
     3781 atgtcagagg aatggatgag tgatttgtga ggtcttaact agataccccg gtttcttcct
     3841 tgttttggct tcttttcaga atgccgggag agtacatgca gggattccat ctaatcaccc
     3901 tcagcactct ttctctggtc ctgctggata gatttagatt tcctttcttt ttttagggcc
     3961 tcagtctgct atctcctttg gtggctacca ccactcactc ccttgatatc ttctactccc
     4021 ttgccttcac cttgcttaag actgagaagg gagttagatt ttgtcactag ctcttctttt
     4081 tcctcactgt gtaccccacc aaacaagatt agttcaagtt aaaaagaacc tactggaggt
     4141 aaactgggag agcaagtgtt ggatctgggc tggtcccttt cccataaaat taggtccctg
     4201 gttgtatgtt cccatagcac cccatacttc ctctctcaga ataatcattt cccttgtaat
     4261 gctcagcatc cgcatcctgc ttgactgcaa acttgctgaa ggtagggact gtttgtcttg
     4321 gacttcgctg ccagtcctta gaacagtgtc tgggacacag tgtgttctca aatatttgtt
     4381 gctggaataa atgaatgaac taaatcagtc ttttagggat ttactgttaa ccaccatggg
     4441 aaaattaaat aaatgcgggg aaggaaaacg ttctaaaa
//
