Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

GDP-fucose protein O-fucosyltransferase 2

Gene

POFUT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X(2,3)-S/T-C2-X(2)-G of thrombospondin type 1 repeats where C1 and C2 are the first and second cysteines, respectively. O-fucosylates members of several protein families including the ADAMTS family, the thrombosporin (TSP) and spondin families. The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (By similarity). Required for the proper secretion of ADAMTS family members such as ADAMSL1 and ADAMST13.By similarity5 Publications

Catalytic activityi

Transfers an alpha-L-fucosyl residue from GDP-beta-L-fucose to the serine hydroxy group of a protein acceptor.1 Publication

Enzyme regulationi

Inhibited by EDTA and by Zn2+.1 Publication

Kineticsi

  1. KM=9.8 µM for GDP-fucose1 Publication

    Pathwayi: protein glycosylation

    This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
    View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Active sitei54Proton donor/acceptorCurated1
    Binding sitei294Substrate1
    Sitei396Essential for catalytic activity1

    GO - Molecular functioni

    • peptide-O-fucosyltransferase activity Source: UniProtKB

    GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Carbohydrate metabolism, Fucose metabolism

    Enzyme and pathway databases

    BioCyciZFISH:HS12371-MONOMER.
    BRENDAi2.4.1.221. 2681.
    ReactomeiR-HSA-5173214. O-glycosylation of TSR domain-containing proteins.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT68. Glycosyltransferase Family 68.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    GDP-fucose protein O-fucosyltransferase 2 (EC:2.4.1.221)
    Alternative name(s):
    Peptide-O-fucosyltransferase 2
    Short name:
    O-FucT-2
    Gene namesi
    Name:POFUT2
    Synonyms:C21orf80, FUT13, KIAA0958
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 21

    Organism-specific databases

    HGNCiHGNC:14683. POFUT2.

    Subcellular locationi

    GO - Cellular componenti

    • endoplasmic reticulum membrane Source: Reactome
    • Golgi apparatus Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Mutagenesisi54E → A: Abolishes enzyme activity. 1 Publication1
    Mutagenesisi92W → A: Abolishes enzyme activity. 1 Publication1
    Mutagenesisi152W → A: Reduces enzyme activity. 1 Publication1
    Mutagenesisi273W → A: Reduces enzyme activity. 1 Publication1
    Mutagenesisi294R → A: Abolishes enzyme activity. 1 Publication1
    Mutagenesisi297D → A: Reduces enzyme activity. 1 Publication1
    Mutagenesisi395E → A: No enhanced secretion of ADASMTS13; when associated with A-396. 1 Publication1
    Mutagenesisi396E → A: Reduces enzyme activity. No enhanced secretion of ADASMTS13; when associated with A-396. 2 Publications1

    Organism-specific databases

    DisGeNETi23275.
    OpenTargetsiENSG00000186866.
    PharmGKBiPA25867.

    Polymorphism and mutation databases

    BioMutaiPOFUT2.
    DMDMi59803123.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Signal peptidei1 – 21Sequence analysisCombined sourcesAdd BLAST21
    ChainiPRO_000001215422 – 429GDP-fucose protein O-fucosyltransferase 2Add BLAST408

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Disulfide bondi161 ↔ 1921 Publication
    Glycosylationi189N-linked (GlcNAc...)1 Publication1
    Glycosylationi209N-linked (GlcNAc...)Sequence analysis1
    Glycosylationi259N-linked (GlcNAc...)1 Publication1
    Disulfide bondi412 ↔ 4191 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    EPDiQ9Y2G5.
    MaxQBiQ9Y2G5.
    PaxDbiQ9Y2G5.
    PeptideAtlasiQ9Y2G5.
    PRIDEiQ9Y2G5.

    PTM databases

    iPTMnetiQ9Y2G5.
    PhosphoSitePlusiQ9Y2G5.

    Expressioni

    Tissue specificityi

    Isoform A is expressed in fetal liver and peripheral blood lymphocytes. Isoform B is expressed in spleen, lung, testis, bone marrow, thymus, pancreas, prostate, fetal brain, fetal liver and fetal kidney. Isoform C is expressed in brain, heart, spleen, liver, lung, stomach, testis, placenta, skin, thymus, pancreas, mammary gland, prostate, fetal brain, fetal liver and fetal heart.1 Publication

    Gene expression databases

    BgeeiENSG00000186866.
    CleanExiHS_POFUT2.
    ExpressionAtlasiQ9Y2G5. baseline and differential.
    GenevisibleiQ9Y2G5. HS.

    Organism-specific databases

    HPAiHPA044297.

    Interactioni

    Protein-protein interaction databases

    BioGridi116876. 1 interactor.
    IntActiQ9Y2G5. 3 interactors.
    STRINGi9606.ENSP00000339613.

    Structurei

    Secondary structure

    1429
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Beta strandi44 – 48Combined sources5
    Helixi56 – 74Combined sources19
    Beta strandi79 – 83Combined sources5
    Helixi91 – 93Combined sources3
    Helixi104 – 106Combined sources3
    Helixi110 – 114Combined sources5
    Beta strandi119 – 121Combined sources3
    Helixi122 – 128Combined sources7
    Beta strandi129 – 141Combined sources13
    Beta strandi156 – 159Combined sources4
    Helixi179 – 181Combined sources3
    Beta strandi186 – 195Combined sources10
    Helixi199 – 202Combined sources4
    Helixi203 – 208Combined sources6
    Beta strandi213 – 219Combined sources7
    Helixi220 – 222Combined sources3
    Helixi231 – 238Combined sources8
    Helixi244 – 258Combined sources15
    Turni262 – 266Combined sources5
    Helixi273 – 275Combined sources3
    Beta strandi286 – 293Combined sources8
    Turni296 – 302Combined sources7
    Beta strandi304 – 306Combined sources3
    Helixi309 – 323Combined sources15
    Beta strandi328 – 332Combined sources5
    Helixi336 – 345Combined sources10
    Beta strandi349 – 351Combined sources3
    Helixi356 – 376Combined sources21
    Beta strandi378 – 383Combined sources6
    Helixi388 – 400Combined sources13
    Helixi404 – 406Combined sources3

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    4AP5X-ray3.00A/B22-429[»]
    4AP6X-ray3.40A/B/C/D37-429[»]
    ProteinModelPortaliQ9Y2G5.
    SMRiQ9Y2G5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Regioni53 – 56Substrate binding4
    Regioni388 – 389Substrate binding2

    Sequence similaritiesi

    Belongs to the glycosyltransferase 68 family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiENOG410IFPR. Eukaryota.
    ENOG410Y78N. LUCA.
    GeneTreeiENSGT00390000007989.
    HOVERGENiHBG053367.
    InParanoidiQ9Y2G5.
    KOiK03691.
    OMAiCSHARFF.
    OrthoDBiEOG091G13P1.
    PhylomeDBiQ9Y2G5.
    TreeFamiTF314337.

    Family and domain databases

    InterProiIPR019378. GDP-Fuc_O-FucTrfase.
    [Graphical view]
    PfamiPF10250. O-FucT. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

    Isoform C (identifier: Q9Y2G5-3) [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
    MATLSFVFLL LGAVSWPPAS ASGQEFWPGQ SAADILSGAA SRRRYLLYDV
    60 70 80 90 100
    NPPEGFNLRR DVYIRIASLL KTLLKTEEWV LVLPPWGRLY HWQSPDIHQV
    110 120 130 140 150
    RIPWSEFFDL PSLNKNIPVI EYEQFIAESG GPFIDQVYVL QSYAEGWKEG
    160 170 180 190 200
    TWEEKVDERP CIDQLLYSQD KHEYYRGWFW GYEETRGLNV SCLSVQGSAS
    210 220 230 240 250
    IVAPLLLRNT SARSVMLDRA ENLLHDHYGG KEYWDTRRSM VFARHLREVG
    260 270 280 290 300
    DEFRSRHLNS TDDADRIPFQ EDWMKMKVKL GSALGGPYLG VHLRRKDFIW
    310 320 330 340 350
    GHRQDVPSLE GAVRKIRSLM KTHRLDKVFV ATDAVRKEYE ELKKLLPEMV
    360 370 380 390 400
    RFEPTWEELE LYKDGGVAII DQWICAHARF FIGTSVSTFS FRIHEEREIL
    410 420
    GLDPKTTYNR FCGDQEKACE QPTHWKITY
    Length:429
    Mass (Da):49,976
    Last modified:February 15, 2005 - v3
    Checksum:i36A4213D905AFFD1
    GO
    Isoform A (identifier: Q9Y2G5-1) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         380-429: FFIGTSVSTF...EQPTHWKITY → CLPTSLSAES...GHFHTVCLLV

    Show »
    Length:424
    Mass (Da):48,896
    Checksum:i60BA687F0DFB8875
    GO
    Isoform B (identifier: Q9Y2G5-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         379-380: RF → SS
         381-429: Missing.

    Show »
    Length:380
    Mass (Da):44,083
    Checksum:i7D640225C9A977C0
    GO

    Sequence cautioni

    The sequence BAA76802 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
    The sequence CAB90496 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Alternative sequenceiVSP_003833379 – 380RF → SS in isoform B. 3 Publications2
    Alternative sequenceiVSP_003832380 – 429FFIGT…WKITY → CLPTSLSAESGSGGFQRFFC PKYSVSEQMVACVHSGHFHT VCLLV in isoform A. 2 PublicationsAdd BLAST50
    Alternative sequenceiVSP_003834381 – 429Missing in isoform B. 3 PublicationsAdd BLAST49

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ302080 mRNA. Translation: CAC24557.1.
    AJ302079 mRNA. Translation: CAC24556.1.
    AY066015 mRNA. Translation: AAL47681.2.
    AJ575591 mRNA. Translation: CAE01472.1.
    AB023175 mRNA. Translation: BAA76802.1. Different initiation.
    AL110285 mRNA. Translation: CAB53715.2.
    AL163301 Genomic DNA. Translation: CAB90496.1. Different initiation.
    BC011044 mRNA. Translation: AAH11044.1.
    BC064623 mRNA. Translation: AAH64623.1.
    CCDSiCCDS13719.1. [Q9Y2G5-3]
    CCDS13721.1. [Q9Y2G5-1]
    RefSeqiNP_056042.1. NM_015227.4. [Q9Y2G5-1]
    NP_598368.2. NM_133635.4. [Q9Y2G5-3]
    UniGeneiHs.592164.

    Genome annotation databases

    EnsembliENST00000331343; ENSP00000329682; ENSG00000186866. [Q9Y2G5-1]
    ENST00000334538; ENSP00000335427; ENSG00000186866. [Q9Y2G5-2]
    ENST00000349485; ENSP00000339613; ENSG00000186866. [Q9Y2G5-3]
    GeneIDi23275.
    KEGGihsa:23275.
    UCSCiuc002zhb.4. human. [Q9Y2G5-3]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Web resourcesi

    Functional Glycomics Gateway - GTase

    Peptide-O-fucosyltransferase 2

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AJ302080 mRNA. Translation: CAC24557.1.
    AJ302079 mRNA. Translation: CAC24556.1.
    AY066015 mRNA. Translation: AAL47681.2.
    AJ575591 mRNA. Translation: CAE01472.1.
    AB023175 mRNA. Translation: BAA76802.1. Different initiation.
    AL110285 mRNA. Translation: CAB53715.2.
    AL163301 Genomic DNA. Translation: CAB90496.1. Different initiation.
    BC011044 mRNA. Translation: AAH11044.1.
    BC064623 mRNA. Translation: AAH64623.1.
    CCDSiCCDS13719.1. [Q9Y2G5-3]
    CCDS13721.1. [Q9Y2G5-1]
    RefSeqiNP_056042.1. NM_015227.4. [Q9Y2G5-1]
    NP_598368.2. NM_133635.4. [Q9Y2G5-3]
    UniGeneiHs.592164.

    3D structure databases

    Select the link destinations:
    PDBei
    RCSB PDBi
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    4AP5X-ray3.00A/B22-429[»]
    4AP6X-ray3.40A/B/C/D37-429[»]
    ProteinModelPortaliQ9Y2G5.
    SMRiQ9Y2G5.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi116876. 1 interactor.
    IntActiQ9Y2G5. 3 interactors.
    STRINGi9606.ENSP00000339613.

    Protein family/group databases

    CAZyiGT68. Glycosyltransferase Family 68.

    PTM databases

    iPTMnetiQ9Y2G5.
    PhosphoSitePlusiQ9Y2G5.

    Polymorphism and mutation databases

    BioMutaiPOFUT2.
    DMDMi59803123.

    Proteomic databases

    EPDiQ9Y2G5.
    MaxQBiQ9Y2G5.
    PaxDbiQ9Y2G5.
    PeptideAtlasiQ9Y2G5.
    PRIDEiQ9Y2G5.

    Protocols and materials databases

    DNASUi23275.
    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000331343; ENSP00000329682; ENSG00000186866. [Q9Y2G5-1]
    ENST00000334538; ENSP00000335427; ENSG00000186866. [Q9Y2G5-2]
    ENST00000349485; ENSP00000339613; ENSG00000186866. [Q9Y2G5-3]
    GeneIDi23275.
    KEGGihsa:23275.
    UCSCiuc002zhb.4. human. [Q9Y2G5-3]

    Organism-specific databases

    CTDi23275.
    DisGeNETi23275.
    GeneCardsiPOFUT2.
    HGNCiHGNC:14683. POFUT2.
    HPAiHPA044297.
    MIMi610249. gene.
    neXtProtiNX_Q9Y2G5.
    OpenTargetsiENSG00000186866.
    PharmGKBiPA25867.
    HUGEiSearch...
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiENOG410IFPR. Eukaryota.
    ENOG410Y78N. LUCA.
    GeneTreeiENSGT00390000007989.
    HOVERGENiHBG053367.
    InParanoidiQ9Y2G5.
    KOiK03691.
    OMAiCSHARFF.
    OrthoDBiEOG091G13P1.
    PhylomeDBiQ9Y2G5.
    TreeFamiTF314337.

    Enzyme and pathway databases

    UniPathwayiUPA00378.
    BioCyciZFISH:HS12371-MONOMER.
    BRENDAi2.4.1.221. 2681.
    ReactomeiR-HSA-5173214. O-glycosylation of TSR domain-containing proteins.

    Miscellaneous databases

    GenomeRNAii23275.
    PROiQ9Y2G5.
    SOURCEiSearch...

    Gene expression databases

    BgeeiENSG00000186866.
    CleanExiHS_POFUT2.
    ExpressionAtlasiQ9Y2G5. baseline and differential.
    GenevisibleiQ9Y2G5. HS.

    Family and domain databases

    InterProiIPR019378. GDP-Fuc_O-FucTrfase.
    [Graphical view]
    PfamiPF10250. O-FucT. 1 hit.
    [Graphical view]
    ProtoNetiSearch...

    Entry informationi

    Entry nameiOFUT2_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y2G5
    Secondary accession number(s): Q6PJV1
    , Q7Z4N0, Q8WWU6, Q9BQS4, Q9BQS5, Q9UFY3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: February 15, 2005
    Last modified: November 2, 2016
    This is version 123 of the entry and version 3 of the sequence. [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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 21
      Human chromosome 21: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.