Product Details

Purity

>85% (SDS-PAGE)

Target Names

POFUT1

Uniprot No.

Q9H488

Alternative Names

FUT 12; FUT12; GDP fucose protein O fucosyltransferase 1; GDP-fucose protein O-fucosyltransferase 1; O Fuc T; o fucosyltransferase protein; O FucT 1; O FucT; O FucT1; O FUT; O-FucT-1; OFUT 1; OFUT; OFUT1; OFUT1_HUMAN; Peptide O fucosyltransferase1; Peptide-O-fucosyltransferase 1; Pofut 1; POFUT1; Protein O fucosyltransferase1

Species

Homo sapiens (Human)

Expression Region

27-388

Target Protein Sequence

GSWD PAGYLLYCPC MGRFGNQADH FLGSLAFAKL LNRTLAVPPW IEYQHHKPPF TNLHVSYQKY FKLEPLQAYH RVISLEDFME KLAPTHWPPE KRVAYCFEVA AQRSPDKKTC PMKEGNPFGP FWDQFHVSFN KSELFTGISF SASYREQWSQ RFSPKEHPVL ALPGAPAQFP VLEEHRPLQK YMVWSDEMVK TGEAQIHAHL VRPYVGIHLR IGSDWKNACA MLKDGTAGSH FMASPQCVGY SRSTAAPLTM TMCLPDLKEI QRAVKLWVRS LDAQSVYVAT DSESYVPELQ QLFKGKVKVV SLKPEVAQVD LYILGQADHF IGNCVSSFTA FVKRERDLQG RPSSFFGMDR PPKLRDEF

Protein Length

Full Length of Mature Protein

Tag Info

Tag type will be determined during the manufacturing process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.

Form

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.

Buffer before Lyophilization

Tris/PBS-based buffer, 6% Trehalose, pH 8.0

Reconstitution

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.

Troubleshooting and FAQs

Protein FAQs

Storage Condition

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.

Shelf Life

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.

Lead Time

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.

Notes

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.

Datasheet

Please contact us to get it.

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Target Background

Function

Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue found in the consensus sequence C2-X(4,5)-[S/T]-C3 of EGF domains, where C2 and C3 are the second and third conserved cysteines. Specifically uses GDP-fucose as donor substrate and proper disulfide pairing of the substrate EGF domains is required for fucose transfer. Plays a crucial role in NOTCH signaling. Initial fucosylation of NOTCH by POFUT1 generates a substrate for FRINGE/RFNG, an acetylglucosaminyltransferase that can then extend the fucosylation on the NOTCH EGF repeats. This extended fucosylation is required for optimal ligand binding and canonical NOTCH signaling induced by DLL1 or JAGGED1. Fucosylates AGRN and determines its ability to cluster acetylcholine receptors (AChRs).

Gene References into Functions

the reported Dowling-Degos mutations of POFUT1, except for M262T, fail to rescue Notch1 signaling efficiently in the CRISPR-engineered POFUT1-/- background; these studies identify POFUT1 as a potential target for cancers driven by Notch1 mutations and provide a structural roadmap for its inhibition PMID: 28334865
The results suggest that this N-glycan of POFUT1 is not required for its proper enzymatic function, and that the p.Ser162Leu mutation of POFUT1 likely causes global developmental delay, microcephaly with vascular and cardiac defects. PMID: 29452367
Our findings suggested that overexpression of Pofut1 and activated Notch1 signaling may be associated with a poor prognosis in breast cancer. PMID: 28709865
POFUT1 gene expression in gastric cancer PMID: 28040433
POFUT1, POGLUT1 and ADAM10 are processing enzymes that are involved in different steps of Notch receptor activation in the epidermis[10]; the roles of these unique enzymes in a single pathway may explain both the overlapping and distinct clinical features of DDD and RAK patients PMID: 26486618
High expression of POFUT1 correlates with aggressive clinicopathological characteristics and poor prognosis of hepatocellular carcinoma patients. PMID: 27003260
The upregulation of poFUT1 by LIF facilitated trophoblast cell migration and invasion through activating the PI3K/Akt signaling pathway. PMID: 25165882
Silencing of Pofut1 expression exerted antiproliferative and antiadhesive effects on hepatocytes. PMID: 25107841
Only a novel 1-bp deletion (c.246+5delG) in POFUT1 was found in a Chinese family with Dowling-Degos disease (DDD). No other novel mutation or this deletion was detected in POFUT1 in a second DDD family and a sporadic DDD case by Sanger Sequencing. PMID: 25157627
Identification of six pathogenic POFUT1 mutations in Dowling-Degos disease patients of different ethnic origin. PMID: 25229252
POFUT1 expression can contribute to cancer progression and that POFUT1 may serve as a diagnostic marker and a therapeutic target for OSCCs. PMID: 24064921
The protein product of POFUT1 plays a significant and conserved role in melanin synthesis and transport. PMID: 23684010
fucosyltransferases, O-FucT-1 is a soluble protein that localizes to the endoplasmic reticulum and recognizes properly folded epidermal growth factor-like repeats. PMID: 15653671
Pofut1 and O-fucose have roles in mammalian Notch signaling PMID: 18347015

Hide All

Involvement in disease

Dowling-Degos disease 2 (DDD2)

Subcellular Location

Endoplasmic reticulum.

Protein Families

Glycosyltransferase 65 family

Tissue Specificity

Highly expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Database Links

HGNC: 14988

OMIM: 607491

KEGG: hsa:23509

STRING: 9606.ENSP00000364902

UniGene: Hs.472409

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Recombinant Human GDP-fucose protein O-fucosyltransferase 1 (POFUT1)

Product Details

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Target Background

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