U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 5986, updated on 3-Dec-2024

    Summary

    Official Symbol
    RFNGprovided by HGNC
    Official Full Name
    RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:9974
    See related
    Ensembl:ENSG00000169733 MIM:602578; AllianceGenome:HGNC:9974
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway. Predicted to be located in Golgi membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RFNG in Genome Data Viewer
    Location:
    17q25.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (82047902..82051811, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82915060..82918969, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80005778..80009687, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9184 Neighboring gene DCXR divergent transcript Neighboring gene dicarbonyl and L-xylulose reductase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80009332-80010001 Neighboring gene G protein pathway suppressor 1 Neighboring gene dihydrouridine synthase 1 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80022320-80023048 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9190 Neighboring gene MPRA-validated peak3028 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:80038893-80039778 Neighboring gene fatty acid synthase Neighboring gene small nucleolar RNA, C/D box 134

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in animal organ morphogenesis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of Notch signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of Notch signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    beta-1,3-N-acetylglucosaminyltransferase radical fringe
    Names
    O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
    radical fringe homolog
    NP_002908.1
    XP_011521889.1
    XP_054172829.1

    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_002917.2NP_002908.1  beta-1,3-N-acetylglucosaminyltransferase radical fringe

      See identical proteins and their annotated locations for NP_002908.1

      Status: VALIDATED

      Source sequence(s)
      AC135056, AF038196, AF108139, AK094016, BC014495, BF435018
      Consensus CDS
      CCDS32773.1
      UniProtKB/Swiss-Prot
      O00588, Q9Y644
      UniProtKB/TrEMBL
      B4DEC8
      Related
      ENSP00000307971.4, ENST00000310496.9
      Conserved Domains (1) summary
      pfam02434
      Location:55305
      Fringe; Fringe-like

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      82047902..82051811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523587.3XP_011521889.1  beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

      UniProtKB/TrEMBL
      B4DXP6, F5H3H7
      Related
      ENSP00000402931.3, ENST00000429557.7
      Conserved Domains (1) summary
      pfam02434
      Location:1179
      Fringe; Fringe-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      82915060..82918969 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316854.1XP_054172829.1  beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

      UniProtKB/TrEMBL
      B4DXP6, F5H3H7