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

Gene ID: 4242, updated on 13-Aug-2020

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
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

Genomic context

See MFNG in Genome Data Viewer
Location:
22q13.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37469063..37486387, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37865101..37882499, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373024 Neighboring gene Sharpr-MPRA regulatory region 14238 Neighboring gene cytohesin 4 Neighboring gene uncharacterized LOC100506271 Neighboring gene extracellular leucine rich repeat and fibronectin type III domain containing 2 Neighboring gene caspase recruitment domain family member 10 Neighboring gene GATA motif-containing MPRA enhancer 128

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CARD10

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 
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
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
 
Process Evidence Code Pubs
blastocyst formation IEA
Inferred from Electronic Annotation
more info
 
marginal zone B cell differentiation ISS
Inferred from Sequence or Structural Similarity
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
 
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 space TAS
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 manic fringe
Names
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
NP_001159815.1
NP_002396.2

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_001166343.2NP_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/Swiss-Prot
    O00587
    Related
    ENSP00000413855.3, ENST00000416983.7
    Conserved Domains (1) summary
    pfam02434
    Location:51286
    Fringe; Fringe-like
  2. NM_002405.4NP_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
    O00587
    Related
    ENSP00000349490.3, ENST00000356998.8
    Conserved Domains (1) summary
    pfam02434
    Location:51300
    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: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    37469063..37486387 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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