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Protein

Beta-1,3-N-acetylglucosaminyltransferase manic fringe

Gene

MFNG

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Glycosyltransferase that initiates the elongation of O-linked fucose residues attached to EGF-like repeats in the extracellular domain of Notch molecules (PubMed:10935626). Modulates NOTCH1 activity by modifying O-fucose residues at specific EGF-like domains resulting in inhibition of NOTCH1 activation by JAG1 and enhancement of NOTCH1 activation by DLL1 via an increase in its binding to DLL1 (By similarity).By similarity1 Publication

Catalytic activityi

Transfers a beta-D-GlcNAc residue from UDP-D-GlcNAc to the fucose residue of a fucosylated protein acceptor.1 Publication

Cofactori

Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei70SubstrateBy similarity1
Binding sitei143SubstrateBy similarity1
Metal bindingi144ManganeseBy similarity1
Active sitei232By similarity1
Metal bindingi256ManganeseBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Glycosyltransferase, Transferase
LigandManganese, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1912420 Pre-NOTCH Processing in Golgi
SignaLinkiO00587
SIGNORiO00587

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,3-N-acetylglucosaminyltransferase manic fringe (EC:2.4.1.222)
Alternative name(s):
O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
Gene namesi
Name:MFNG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100060.17
HGNCiHGNC:7038 MFNG
MIMi602577 gene
neXtProtiNX_O00587

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 7CytoplasmicSequence analysis7
Transmembranei8 – 27Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST20
Topological domaini28 – 321LumenalSequence analysisAdd BLAST294

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi4242
OpenTargetsiENSG00000100060
PharmGKBiPA30775

Polymorphism and mutation databases

BioMutaiMFNG

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191821 – 321Beta-1,3-N-acetylglucosaminyltransferase manic fringeAdd BLAST321

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi109N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi110 ↔ 121By similarity
Disulfide bondi139 ↔ 202By similarity
Glycosylationi185N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi306 ↔ 315By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiO00587
PaxDbiO00587
PeptideAtlasiO00587
PRIDEiO00587
ProteomicsDBi47988
47989 [O00587-2]

PTM databases

iPTMnetiO00587
PhosphoSitePlusiO00587

Expressioni

Gene expression databases

BgeeiENSG00000100060
CleanExiHS_MFNG
ExpressionAtlasiO00587 baseline and differential
GenevisibleiO00587 HS

Organism-specific databases

HPAiHPA048936
HPA056479

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000349490

Structurei

3D structure databases

ProteinModelPortaliO00587
SMRiO00587
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410II9W Eukaryota
ENOG410XS8Y LUCA
GeneTreeiENSGT00390000009913
HOGENOMiHOG000046678
HOVERGENiHBG007986
InParanoidiO00587
KOiK05948
OMAiLRWFCHV
OrthoDBiEOG091G08XO
PhylomeDBiO00587
TreeFamiTF324207

Family and domain databases

InterProiView protein in InterPro
IPR017374 Fringe
IPR003378 Fringe-like
PfamiView protein in Pfam
PF02434 Fringe, 1 hit
PIRSFiPIRSF038073 B-acetylgalactosaminyltfrase, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O00587-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQCRLPRGLA GALLTLLCMG LLCLRYHLNL SPQRVQGTPE LSQPNPGPPK
60 70 80 90 100
LQLHDVFIAV KTTRAFHRLR LELLLDTWVS RTREQTFVFT DSPDKGLQER
110 120 130 140 150
LGSHLVVTNC SAEHSHPALS CKMAAEFDTF LASGLRWFCH VDDDNYVNPR
160 170 180 190 200
ALLQLLRAFP LARDVYVGRP SLNRPIHASE PQPHNRTRLV QFWFATGGAG
210 220 230 240 250
FCINRKLALK MAPWASGSRF MDTSALIRLP DDCTMGYIIE CKLGGRLQPS
260 270 280 290 300
PLFHSHLETL QLLRTAQLPE QVTLSYGVFE GKLNVIKLQG PFSPEEDPSR
310 320
FRSLHCLLYP DTPWCPQLGA R
Length:321
Mass (Da):36,202
Last modified:March 27, 2002 - v2
Checksum:i7CB847E7423DD0BC
GO
Isoform 2 (identifier: O00587-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     86-102: TFVFTDSPDKGLQERLG → VTR

Note: No experimental confirmation available.
Show »
Length:307
Mass (Da):34,666
Checksum:i62DAF2173EA15DB6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti85Q → L in AAC51358 (PubMed:9187150).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_024467302R → C. Corresponds to variant dbSNP:rs8192548Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04285786 – 102TFVFT…QERLG → VTR in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94352 mRNA Translation: AAC51358.1
CR456518 mRNA Translation: CAG30404.1
AK297149 mRNA Translation: BAG59648.1
Z93096 Genomic DNA Translation: CAB07511.1
BC094814 mRNA Translation: AAH94814.1
CCDSiCCDS13947.1 [O00587-1]
CCDS54525.1 [O00587-2]
RefSeqiNP_001159815.1, NM_001166343.1 [O00587-2]
NP_002396.2, NM_002405.3 [O00587-1]
UniGeneiHs.517603

Genome annotation databases

EnsembliENST00000356998; ENSP00000349490; ENSG00000100060 [O00587-1]
ENST00000416983; ENSP00000413855; ENSG00000100060 [O00587-2]
GeneIDi4242
KEGGihsa:4242
UCSCiuc003ass.3 human [O00587-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMFNG_HUMAN
AccessioniPrimary (citable) accession number: O00587
Secondary accession number(s): B4DLT6, O43730, Q504S9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 27, 2002
Last sequence update: March 27, 2002
Last modified: June 20, 2018
This is version 142 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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