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

Gene ID: 5986, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues See more
Orthologs

Genomic context

See RFNG in Genome Data Viewer
Location:
17q25.3
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (82047902..82051811, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (80005778..80009650, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DCXR divergent transcript Neighboring gene dicarbonyl and L-xylulose reductase Neighboring gene G protein pathway suppressor 1 Neighboring gene dihydrouridine synthase 1 like 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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
animal organ morphogenesis NAS
Non-traceable Author Statement
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
pattern specification process 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
 
protein O-linked fucosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein O-linked fucosylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Notch signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
integral component of Golgi membrane IEA
Inferred from Electronic Annotation
more info
 

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

NCBI Reference Sequences (RefSeq)

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 precursor

    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
    Q9Y644
    UniProtKB/TrEMBL
    Q8N9R1
    Related
    ENSP00000307971.4, ENST00000310496.9
    Conserved Domains (1) summary
    pfam02434
    Location:55305
    Fringe; Fringe-like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011523587.2XP_011521889.1  beta-1,3-N-acetylglucosaminyltransferase radical fringe isoform X1

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