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

Gene ID: 5986, updated on 14-Nov-2024

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_002917.2 → NP_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:55 → 305
    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_011523587.3 → XP_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:1 → 179
    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_054316854.1 → XP_054172829.1  beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

    UniProtKB/TrEMBL
    F5H3H7
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y644.3 GenPept UniProtKB/Swiss-Prot:Q9Y644

Gene LinkOut

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