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    LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [ Homo sapiens (human) ]

    Gene ID: 3955, updated on 4-Sep-2016
    Official Symbol
    LFNGprovided by HGNC
    Official Full Name
    LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:6560
    See related
    Ensembl:ENSG00000106003 MIM:602576; Vega:OTTHUMG00000152043
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCDO3
    Summary
    This gene is a member of the fringe gene family which also includes radical and manic fringe genes. They all 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, fringe 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. This gene product 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
    Orthologs
    Location:
    7p22.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (2512529..2529177)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2552163..2568811)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986758 Neighboring gene uncharacterized LOC107986759 Neighboring gene microRNA 4648 Neighboring gene BRCA1 associated ATM activator 1 Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
    • Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Notch Signaling Pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, organism-specific biosystem (from KEGG)
      Notch signaling pathway, organism-specific biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Notch signaling pathway, conserved biosystem (from KEGG)
      Notch signaling pathway, conserved biosystemThe Notch signaling pathway is an evolutionarily conserved, intercellular signaling mechanism essential for proper embryonic development in all metazoan organisms in the Animal kingdom. The Notch pro...
    • Other types of O-glycan biosynthesis, organism-specific biosystem (from KEGG)
      Other types of O-glycan biosynthesis, organism-specific biosystemO-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or th...
    • Other types of O-glycan biosynthesis, conserved biosystem (from KEGG)
      Other types of O-glycan biosynthesis, conserved biosystemO-mannosyl glycans are a type of O-glycans that are found both in eukaryotes and prokaryotes. Biosynthesis of O-mannosyl glycans is initiated by the transfer of mannose from Man-P-Dol to serine or th...
    • Pre-NOTCH Expression and Processing, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Expression and Processing, organism-specific biosystemIn humans and other mammals the NOTCH gene family has four members, NOTCH1, NOTCH2, NOTCH3 and NOTCH4, encoded on four different chromosomes. Their transcription is developmentally regulated and tiss...
    • Pre-NOTCH Processing in Golgi, organism-specific biosystem (from REACTOME)
      Pre-NOTCH Processing in Golgi, organism-specific biosystemNOTCH undergoes final posttranslational processing in the Golgi apparatus (Lardelli et al. 1994, Blaumueller et al. 1997, Weinmaster et al. 1991, Weinmaster et al. 1992, Uyttendaele et al. 1996). Mov...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by NOTCH, organism-specific biosystem (from REACTOME)
      Signaling by NOTCH, organism-specific biosystemThe Notch Signaling Pathway (NSP) is a highly conserved pathway for cell-cell communication. NSP is involved in the regulation of cellular differentiation, proliferation, and specification. For exam...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    T cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    animal organ morphogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    compartment pattern specification IEA
    Inferred from Electronic Annotation
    more info
     
    female meiotic division IEA
    Inferred from Electronic Annotation
    more info
     
    marginal zone B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of Notch signaling pathway involved in somitogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ovarian follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of somitogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    somitogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
    NP_001035257.1
    NP_001035258.1
    NP_001159827.1
    NP_002295.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008109.2 RefSeqGene

      Range
      12317..21649
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001040167.1NP_001035257.1  beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform a precursor

      See identical proteins and their annotated locations for NP_001035257.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC092488, BC014851, BM854210, U94354
      Consensus CDS
      CCDS34587.1
      UniProtKB/Swiss-Prot
      Q8NES3
      Related
      ENSP00000222725, OTTHUMP00000201070, ENST00000222725, OTTHUMT00000325021
      Conserved Domains (1) summary
      pfam02434
      Location:110358
      Fringe; Fringe-like
    2. NM_001040168.1NP_001035258.1  beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform b precursor

      See identical proteins and their annotated locations for NP_001035258.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate 3' terminal exon compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC092488, AF193612, AK096284, BC014851, U94354
      Consensus CDS
      CCDS34586.1
      UniProtKB/Swiss-Prot
      Q8NES3
      Related
      ENSP00000352579, OTTHUMP00000201071, ENST00000359574, OTTHUMT00000325022
      Conserved Domains (1) summary
      pfam02434
      Location:110358
      Fringe; Fringe-like
    3. NM_001166355.1NP_001159827.1  beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform c) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK096284, BC014851
      Consensus CDS
      CCDS55081.1
      UniProtKB/Swiss-Prot
      Q8NES3
      Related
      ENSP00000385764, OTTHUMP00000201072, ENST00000402506, OTTHUMT00000325023
      Conserved Domains (1) summary
      pfam02434
      Location:72287
      Fringe; Fringe-like
    4. NM_002304.2NP_002295.1  beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform d

      See identical proteins and their annotated locations for NP_002295.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform d) has a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK096284, BC014851
      Consensus CDS
      CCDS55082.1
      UniProtKB/Swiss-Prot
      Q8NES3
      Related
      ENSP00000384786, OTTHUMP00000201073, ENST00000402045, OTTHUMT00000325024
      Conserved Domains (1) summary
      pfam02434
      Location:16229
      Fringe; Fringe-like

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      2512529..2529177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      2551728..2568392
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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