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

    Gene ID: 4242, updated on 10-Dec-2024

    Summary

    Official Symbol
    MFNGprovided by HGNC
    Official Full Name
    MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:7038
    See related
    Ensembl:ENSG00000100060 MIM:602577; AllianceGenome:HGNC:7038
    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
    Summary
    This gene is a member of the glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) 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 may control Notch signaling in claudin-low breast cancer. [provided by RefSeq, May 2018]
    Expression
    Broad expression in lymph node (RPKM 25.3), spleen (RPKM 22.3) and 23 other tissues See more
    Orthologs
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    Genomic context

    See MFNG in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37469063..37486384, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37929523..37947248, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37865101..37882422, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37750914-37751414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37751415-37751915 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37764078-37765044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37774300-37774868 Neighboring gene uncharacterized LOC124905114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37782078-37782616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37798615-37799363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37806589-37807090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37812286-37812830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37815805-37816474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37816475-37817143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37863012-37863625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37865281-37865782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37880249-37880758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882803-37883314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882293-37882802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37883315-37883824 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898069-37898668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898669-37899266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904132-37904960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904961-37905787 Neighboring gene caspase recruitment domain family member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37907945-37908458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934271-37934772 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37934773-37935272 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948043-37948624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37948625-37949206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957123-37957729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37957730-37958337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37958338-37958944 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959472-37959972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37959973-37960473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37963831-37964482 Neighboring gene CDC42 effector protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Potential readthrough

    Included gene: CARD10

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in blastocyst formation  
    involved_in marginal zone B cell differentiation  
    involved_in pattern specification process  
    involved_in positive regulation of Notch signaling pathway  
    involved_in regulation of Notch signaling pathway  
    involved_in regulation of Notch signaling pathway  
    Component Evidence Code Pubs
    located_in Golgi membrane  
    located_in extracellular space PubMed 

    General protein information

    Preferred Names
    beta-1,3-N-acetylglucosaminyltransferase manic fringe
    Names
    O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
    NP_001159815.1
    NP_002396.2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001166343.2 → NP_001159815.1  beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2

      See identical proteins and their annotated locations for NP_001159815.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' exon and lacks an alternate 5' coding exon, compared to variant 1, resulting in a protein that maintains the reading frame but is shorter, compared to isoform 1.
      Source sequence(s)
      AI363008, AK297149, BC094814, BM457814
      Consensus CDS
      CCDS54525.1
      UniProtKB/TrEMBL
      A8K7V8
      Related
      ENSP00000413855.3, ENST00000416983.7
      Conserved Domains (1) summary
      pfam02434
      Location:51 → 286
      Fringe; Fringe-like
    2. NM_002405.4 → NP_002396.2  beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 1

      See identical proteins and their annotated locations for NP_002396.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AI363008, BC094814
      Consensus CDS
      CCDS13947.1
      UniProtKB/Swiss-Prot
      B4DLT6, O00587, O43730, Q504S9
      UniProtKB/TrEMBL
      A8K7V8
      Related
      ENSP00000349490.3, ENST00000356998.8
      Conserved Domains (1) summary
      pfam02434
      Location:51 → 300
      Fringe; Fringe-like

    RNA

    1. NR_029413.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI363008, AK316555, BC094814, DA815501

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37469063..37486384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37929523..37947248 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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