LOCUS       NM_001040167            2445 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens LFNG O-fucosylpeptide
            3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant
            1, mRNA.
ACCESSION   NM_001040167
VERSION     NM_001040167.2
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 2445)
  AUTHORS   Lecca,M., Bedeschi,M.F., Izzi,C., Dordoni,C., Rinaldi,B.,
            Peluso,F., Caraffi,S.G., Prefumo,F., Signorelli,M., Zanzucchi,M.,
            Bione,S., Ghigna,C., Sassi,S., Novelli,A., Valente,E.M.,
            Superti-Furga,A., Garavelli,L. and Errichiello,E.
  TITLE     Identification of bi-allelic LFNG variants in three patients and
            further clinical and molecular refinement of spondylocostal
            dysostosis 3
  JOURNAL   Clin Genet 104 (2), 230-237 (2023)
   PUBMED   37038048
  REMARK    GeneRIF: Identification of bi-allelic LFNG variants in three
            patients and further clinical and molecular refinement of
            spondylocostal dysostosis 3.
REFERENCE   2  (bases 1 to 2445)
  AUTHORS   Suzuki,S., Hiura,S., Mashiko,T., Matsumoto,T. and Itoh,M.
  TITLE     Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant
            proteins
  JOURNAL   Biochem Biophys Res Commun 557, 302-308 (2021)
   PUBMED   33894418
  REMARK    GeneRIF: Lunatic fringe promotes the aggregation of CADASIL NOTCH3
            mutant proteins.
REFERENCE   3  (bases 1 to 2445)
  AUTHORS   Barua,R., Mizuno,K., Tashima,Y., Ogawa,M., Takeuchi,H., Taguchi,A.
            and Okajima,T.
  TITLE     Bioinformatics and Functional Analyses Implicate Potential Roles
            for EOGT and L-fringe in Pancreatic Cancers
  JOURNAL   Molecules 26 (4), 882 (2021)
   PUBMED   33562410
  REMARK    GeneRIF: Bioinformatics and Functional Analyses Implicate Potential
            Roles for EOGT and L-fringe in Pancreatic Cancers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2445)
  AUTHORS   Otomo,N., Mizumoto,S., Lu,H.F., Takeda,K., Campos-Xavier,B.,
            Mittaz-Crettol,L., Guo,L., Takikawa,K., Nakamura,M., Yamada,S.,
            Matsumoto,M., Watanabe,K. and Ikegawa,S.
  TITLE     Identification of novel LFNG mutations in spondylocostal dysostosis
  JOURNAL   J Hum Genet 64 (3), 261-264 (2019)
   PUBMED   30531807
  REMARK    GeneRIF: LFNG mutation is associated with spondylocostal
            dysostosis.
REFERENCE   5  (bases 1 to 2445)
  AUTHORS   Moloney,D.J., Panin,V.M., Johnston,S.H., Chen,J., Shao,L.,
            Wilson,R., Wang,Y., Stanley,P., Irvine,K.D., Haltiwanger,R.S. and
            Vogt,T.F.
  TITLE     Fringe is a glycosyltransferase that modifies Notch
  JOURNAL   Nature 406 (6794), 369-375 (2000)
   PUBMED   10935626
REFERENCE   6  (bases 1 to 2445)
  AUTHORS   Moran,J.L., Johnston,S.H., Rauskolb,C., Bhalerao,J., Bowcock,A.M.
            and Vogt,T.F.
  TITLE     Genomic structure, mapping, and expression analysis of the
            mammalian Lunatic, Manic, and Radical fringe genes
  JOURNAL   Mamm Genome 10 (6), 535-541 (1999)
   PUBMED   10341080
REFERENCE   7  (bases 1 to 2445)
  AUTHORS   Egan,S., Herbrick,J.A., Tsui,L.C., Cohen,B., Flock,G., Beatty,B.
            and Scherer,S.W.
  TITLE     Mapping of the human Lunatic Fringe (LFNG) gene to 7p22 and Manic
            Fringe (MFNG) to 22q12
  JOURNAL   Genomics 54 (3), 576-577 (1998)
   PUBMED   9878264
REFERENCE   8  (bases 1 to 2445)
  AUTHORS   Johnston,S.H., Rauskolb,C., Wilson,R., Prabhakaran,B., Irvine,K.D.
            and Vogt,T.F.
  TITLE     A family of mammalian Fringe genes implicated in boundary
            determination and the Notch pathway
  JOURNAL   Development 124 (11), 2245-2254 (1997)
   PUBMED   9187150
REFERENCE   9  (bases 1 to 2445)
  AUTHORS   Turnpenny,P.D., Sloman,M. and Dunwoodie,S.
  TITLE     Spondylocostal Dysostosis, Autosomal Recessive
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301771
REFERENCE   10 (bases 1 to 2445)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC092488.3, U94354.1,
            BC014851.1 and BM854210.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001040167.1.
            
            Summary: This gene is a member of the glycosyltransferase 31 gene
            family. Members of this gene family, which also includes the MFNG
            (GeneID: 4242) and RFNG (GeneID: 5986) genes, encode evolutionarily
            conserved glycosyltransferases that act in the Notch signaling
            pathway to define boundaries during embryonic development. While
            their genomic structure is distinct from other
            glycosyltransferases, these proteins have a fucose-specific
            beta-1,3-N-acetylglucosaminyltransferase activity that leads to
            elongation of O-linked fucose residues on Notch, which alters Notch
            signaling. The protein encoded by this gene is predicted to be a
            single-pass type II Golgi membrane protein but it may also be
            secreted and proteolytically processed like the related proteins in
            mouse and Drosophila (PMID: 9187150). Mutations in this gene have
            been associated with autosomal recessive spondylocostal dysostosis
            3. [provided by RefSeq, May 2018].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (a).
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1965299,
                              SAMEA1966682 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222725.10/ ENSP00000222725.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-71                AC092488.3         7980-8050
            72-403              AC092488.3         8051-8382
            404-722             U94354.1           6-324
            723-1353            BC014851.1         336-966
            1354-1386           BM854210.1         381-413
            1387-2445           BC014851.1         1006-2064
FEATURES             Location/Qualifiers
     source          1..2445
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p22.3"
     gene            1..2445
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="LFNG O-fucosylpeptide
                     3-beta-N-acetylglucosaminyltransferase"
                     /db_xref="GeneID:3955"
                     /db_xref="HGNC:HGNC:6560"
                     /db_xref="MIM:602576"
     exon            1..520
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1228
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /EC_number="2.4.1.222"
                     /note="isoform a is encoded by transcript variant 1;
                     beta-1,3-N-acetylglucosaminyltransferase lunatic fringe"
                     /codon_start=1
                     /product="beta-1,3-N-acetylglucosaminyltransferase lunatic
                     fringe isoform a"
                     /protein_id="NP_001035257.1"
                     /db_xref="CCDS:CCDS34587.1"
                     /db_xref="GeneID:3955"
                     /db_xref="HGNC:HGNC:6560"
                     /db_xref="MIM:602576"
                     /translation="MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRS
                     LAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGH
                     PRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHT
                     GNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYP
                     HTRDVYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGG
                     HFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSY
                     GMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF"
     exon            521..569
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            570..669
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            670..823
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            824..909
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            910..1075
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            1076..1161
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     exon            1162..2445
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2423..2428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="hexamer: AATAAA"
     polyA_site      2445
                     /gene="LFNG"
                     /gene_synonym="SCDO3"
                     /note="major polyA site"
ORIGIN      
        1 gctggactgc gccgccggag cgacgggctt cgggtcggtg caaggcaggc gcacggggaa
       61 gggcgcgccg cgcggccgcc accccaccat gctcaagcgc tgcggccggc gcctgctgct
      121 ggcgctggcg ggcgcgctgc tcgcctgcct gctggtgctc accgccgacc cgccgccgcc
      181 tccactgccc gccgagcgcg gccggcgcgc gctgcgcagc ctggcgggcc ccgcgggggc
      241 tgccccggcg cccgggctgg gggcggcggc ggcggcgccc ggggcgctgg tccgcgacgt
      301 gcacagtctg tccgagtact tcagcctgct cacccgcgcg cgcagagatg cgggcccgcc
      361 gcccggggct gccccccgcc ccgccgacgg ccacccgcgc cccctggccg agccgctcgc
      421 gccccgagac gtcttcatcg ctgtcaagac caccaaaaag ttccaccgcg cgcgcctcga
      481 cctgctgctg gagacctgga tctcgcgcca caaggagatg acgttcatct tcactgacgg
      541 ggaagatgag gccctggcca ggcacacggg caacgtggtc atcacaaact gctcggccgc
      601 ccacagccgc caggcgctgt cctgcaagat ggccgtggag tatgaccgct tcatcgagtc
      661 cggcaggaag tggttctgcc acgtggacga tgacaactac gtcaacctgc gggccctgct
      721 gcggctgctg gccagctacc cgcacacgcg ggacgtctac gtcggcaagc ccagcctgga
      781 caggcccatc caggccatgg agcgggtcag cgagaacaag gtgcgtcctg tccacttctg
      841 gtttgccacg ggcggcgctg gcttctgcat cagccgtggg ctggctctga agatgagccc
      901 gtgggccagc gggggtcact tcatgaatac ggctgagcgg atccggctgc ctgatgactg
      961 caccatcggc tacatcgtgg aggccctgct gggtgtgccc ctcatccgca gcggcctctt
     1021 ccactcccac ctggagaacc tgcagcaggt gcccacctcg gagctccacg agcaggtgac
     1081 gctgagctac ggtatgtttg aaaacaagcg gaacgccgtc cacgtgaagg ggcccttctc
     1141 ggtggaggcc gacccatcca ggttccgctc catccactgc cacctgtacc cggacacacc
     1201 ctggtgtccc cgcactgcca tcttctagtg gccatggctg agacccaatc cctgggcgcc
     1261 cctggtatcc aaagggccca gggaccctgt tgcgctgccc tggcctcggc attcgaggct
     1321 cccctagggc cgtgcctgtg cgtgtgcgtg tgcgtgtgtg tgtgtgtgta ctgcatgccc
     1381 acccgggtag caggctgctg ggcagttctg ctctgtggag gggcgggcac cagcgccact
     1441 tatgtgcctc tgctccgagg gccagtgggc tgcagggcct gcttggagga aggatttgtg
     1501 tgtcggaggc cactccgagg gcaattctgt taggattttt ggatctttct acagctacgg
     1561 ggctccgggc tactttgcag ggatgcgatg cgtaggtgcc tttctcttcc tgctgaccac
     1621 aagctctgtg ctgggggtac ctgtgccctg aagtcctggc ccctgtgtca tagccccaag
     1681 tacgactcac tgagccatgc tcattgcagg ggaggctggg tctgggggtg cgtgacccaa
     1741 tccccttcct cctggcctgg acgctgtggc ttaagagtaa cagcagccac cgcccagttc
     1801 cagtggcccc acgaagcccc cagtggctgg ctgtccagct gggcaaacag tggcacccct
     1861 cccagctctt ctgagtgggg agtcttccag gcctcctcag aggtcttccc tttgcctccc
     1921 caggacaggg tgagtcagag ctcagcattt aatctcctct ccaaagtaga gagcaagtcg
     1981 cccacagtgg gcgtgtctgt aaatattgtg acagtatttt tttactgtgc tgtttttttt
     2041 gaaaggggat gggtaaaaag tagggtgttc ttgttttttg cttgggaggg tgggggtggg
     2101 ggagggtctt attttatctt atcttttctg tggatcagaa aaaacagaag ccaaactcgg
     2161 ggtcatcttt gtttttaaag ctgaagtggg actgtctggc actctgtgta tttatgcgtt
     2221 ccagcatctg gaacctccca tccctgccct cctcctgtgt agctgccacc tccccgctgg
     2281 gcccagcatg gctcacctgt cccgtgggct gtgtttcttg ttgtttttct ctttgcaaag
     2341 acatagctag gaaagcgaat gataagggaa aagttctcag ggaattgaag tgttgttgct
     2401 atggtgacgt ccttttgctg tgaataaagg tgctctttgc agcaa
//
