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Q9Y2G5 (OFUT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
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to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:POFUT2
Synonyms:C21orf80, FUT13, KIAA0958
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length429 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Catalyzes the reaction that attaches fucose through an O-glycosidic linkage to a conserved serine or threonine residue in thrombospondin type 1 repeats. Ref.7

Catalytic activity

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

Pathway

Protein modification; protein glycosylation.

Subcellular location

Endoplasmic reticulum By similarity Ref.1.

Tissue specificity

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. Ref.1

Sequence similarities

Belongs to the glycosyltransferase 68 family.

Sequence caution

The sequence BAA76802.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAB90496.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processCarbohydrate metabolism
Fucose metabolism
   Cellular componentEndoplasmic reticulum
   Coding sequence diversityAlternative splicing
   DomainSignal
   Molecular functionGlycosyltransferase
Transferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processfucose metabolic process

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentendoplasmic reticulum

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionpeptide-O-fucosyltransferase activity

Inferred from electronic annotation. Source: EC

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform C (identifier: Q9Y2G5-3)

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.
Isoform A (identifier: Q9Y2G5-1)

The sequence of this isoform differs from the canonical sequence as follows:
     380-429: FFIGTSVSTF...EQPTHWKITY → CLPTSLSAES...GHFHTVCLLV
Isoform B (identifier: Q9Y2G5-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2121 Potential
Chain22 – 429408GDP-fucose protein O-fucosyltransferase 2
PRO_0000012154

Amino acid modifications

Glycosylation1891N-linked (GlcNAc...) Potential
Glycosylation2091N-linked (GlcNAc...) Potential
Glycosylation2591N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence379 – 3802RF → SS in isoform B.
VSP_003833
Alternative sequence380 – 42950FFIGT…WKITY → CLPTSLSAESGSGGFQRFFC PKYSVSEQMVACVHSGHFHT VCLLV in isoform A.
VSP_003832
Alternative sequence381 – 42949Missing in isoform B.
VSP_003834

Sequences

Sequence LengthMass (Da)Tools
Isoform C [UniParc].

Last modified February 15, 2005. Version 3.
Checksum: 36A4213D905AFFD1

FASTA42949,976
        10         20         30         40         50         60 
MATLSFVFLL LGAVSWPPAS ASGQEFWPGQ SAADILSGAA SRRRYLLYDV NPPEGFNLRR 

        70         80         90        100        110        120 
DVYIRIASLL KTLLKTEEWV LVLPPWGRLY HWQSPDIHQV RIPWSEFFDL PSLNKNIPVI 

       130        140        150        160        170        180 
EYEQFIAESG GPFIDQVYVL QSYAEGWKEG TWEEKVDERP CIDQLLYSQD KHEYYRGWFW 

       190        200        210        220        230        240 
GYEETRGLNV SCLSVQGSAS IVAPLLLRNT SARSVMLDRA ENLLHDHYGG KEYWDTRRSM 

       250        260        270        280        290        300 
VFARHLREVG DEFRSRHLNS TDDADRIPFQ EDWMKMKVKL GSALGGPYLG VHLRRKDFIW 

       310        320        330        340        350        360 
GHRQDVPSLE GAVRKIRSLM KTHRLDKVFV ATDAVRKEYE ELKKLLPEMV RFEPTWEELE 

       370        380        390        400        410        420 
LYKDGGVAII DQWICAHARF FIGTSVSTFS FRIHEEREIL GLDPKTTYNR FCGDQEKACE 


QPTHWKITY

« Hide

Isoform A [UniParc].

Checksum: 60BA687F0DFB8875
Show »

FASTA42448,896
Isoform B [UniParc].

Checksum: 7D640225C9A977C0
Show »

FASTA38044,083

References

« Hide 'large scale' references
[1]"The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development."
Menzel O., Vellai T., Takacs-Vellai K., Reymond A., Mueller F., Antonarakis S.E., Guipponi M.
Genomics 84:320-330(2004) [PubMed: 15233996] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B AND C), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[2]"A new superfamily of protein-O-fucosyltransferases, alpha2-fucosyltransferases, and alpha6-fucosyltransferases: phylogeny and identification of conserved peptide motifs."
Martinez-Duncker I., Mollicone R., Candelier J.-J., Breton C., Oriol R.
Glycobiology 13:1C-5C(2003) [PubMed: 12966037] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM C).
[3]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed: 10231032] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
Tissue: Brain.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM B).
Tissue: Testis.
[5]"The DNA sequence of human chromosome 21."
Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. expand/collapse author list , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L.
Nature 405:311-319(2000) [PubMed: 10830953] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS B AND C).
Tissue: Brain.
[7]"Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats."
Luo Y., Nita-Lazar A., Haltiwanger R.S.
J. Biol. Chem. 281:9385-9392(2006) [PubMed: 16464858] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Peptide-O-fucosyltransferase 2

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		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.
IPIIPI00032138.
IPI00218348.
IPI00218349.
RefSeqNP_056042.1. NM_015227.4.
NP_598368.2. NM_133635.4.
UniGeneHs.592164.

3D structure databases

ProteinModelPortalQ9Y2G5.
SMRQ9Y2G5. Positions 284-392.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9Y2G5. 3 interactions.
STRINGQ9Y2G5.

Protein family/group databases

CAZyGT68. Glycosyltransferase Family 68.

Polymorphism databases

DMDM59803123.

Proteomic databases

PRIDEQ9Y2G5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349485; ENSP00000339613; ENSG00000186866.
GeneID23275.
KEGGhsa:23275.
UCSCuc002zhc.1. human.
uc002zhd.1. human.

Organism-specific databases

CTD23275.
GeneCardsGC21M046683.
H-InvDBHIX0016180.
HGNCHGNC:14683. POFUT2.
HPAHPA044297.
MIM610249. gene.
neXtProtNX_Q9Y2G5.
PharmGKBPA25867.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG09136.
GeneTreeENSGT00390000007989.
HOVERGENHBG053367.
InParanoidQ9Y2G5.
OMAICAHARF.
PhylomeDBQ9Y2G5.

Gene expression databases

ArrayExpressQ9Y2G5.
BgeeQ9Y2G5.
CleanExHS_POFUT2.
GenevestigatorQ9Y2G5.
GermOnlineENSG00000186866. Homo sapiens.

Family and domain databases

InterProIPR019378. GDP-Fuc_O-FucTrfase.
[Graphical view]
KOK03691.
PfamPF10250. O-FucT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio45054.
SOURCESearch...

Entry information

Entry nameOFUT2_HUMAN
AccessionPrimary (citable) accession number: Q9Y2G5
Secondary accession number(s): Q6PJV1 expand/collapse secondary AC list , Q7Z4N0, Q8WWU6, Q9BQS4, Q9BQS5, Q9UFY3
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 15, 2005
Last modified: January 25, 2012
This is version 84 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 21

Human chromosome 21: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PATHWAY comments

Index of metabolic and biosynthesis pathways

SIMILARITY comments

Index of protein domains and families

to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents