Reviewed, UniProtKB/Swiss-Prot Q9Y2G5 (OFUT2_HUMAN)

Names and origin

Protein names

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 names

Name:	POFUT2
Synonyms:	C21orf80, FUT13, KIAA0958

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	429 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.
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.

Ontologies

Keywords
Biological process	Carbohydrate metabolism Fucose metabolism
Cellular component	Endoplasmic reticulum
Coding sequence diversity	Alternative splicing
Domain	Signal
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Gene Ontology (GO)
Biological process	fucose metabolic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	peptide-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 21	21	Potential
	Chain	22 – 429	408	GDP-fucose protein O-fucosyltransferase 2		PRO_0000012154
Amino acid modifications
	Glycosylation	189	1	N-linked (GlcNAc...) Potential
	Glycosylation	209	1	N-linked (GlcNAc...) Potential
	Glycosylation	259	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	379 – 380	2	RF → SS in isoform B.		VSP_003833
	Alternative sequence	380 – 429	50	FFIGT…WKITY → CLPTSLSAESGSGGFQRFFC PKYSVSEQMVACVHSGHFHT VCLLV in isoform A.		VSP_003832
	Alternative sequence	381 – 429	49	Missing in isoform B.		VSP_003834

Sequences

	Sequence		Length	Mass (Da)
	Isoform C [UniParc]. Last modified February 15, 2005. Version 3. Checksum: 36A4213D905AFFD1	FASTA	429	49,976
	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
	Isoform A. Checksum: 60BA687F0DFB8875	FASTA	424	48,896
	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 DQWICAHARC LPTSLSAESG SGGFQRFFCP KYSVSEQMVA CVHSGHFHTV CLLV
	Isoform B. Checksum: 7D640225C9A977C0	FASTA	380	44,083
	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 LYKDGGVAII DQWICAHASS

References

	« Hide 'large scale' referencesShow '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., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder 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. , 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.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Peptide-O-fucosyltransferase 2

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00032138. IPI00218348. IPI00218349.
RefSeq	NP_056042.1. NP_598368.2.
UniGene	Hs.592164
3D structure databases
ModBase	Search...
Protein family/group databases
CAZy	GT68. Glycosyltransferase Family 68.
Proteomic databases
PRIDE	Q9Y2G5.
Genome annotation databases
Ensembl	ENSG00000186866. Homo sapiens. [Contig view]
GeneID	23275.
KEGG	hsa:23275.
Organism-specific databases
GeneCards	GC21M045508.
H-InvDB	HIX0016180.
HGNC	HGNC:14683. POFUT2.
MIM	610249. gene.
PharmGKB	PA25867.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9Y2G5.
OMA	Q9Y2G5. HARFFIG.
Enzyme and pathway databases
BRENDA	2.4.1.221. 247.
Gene expression databases
ArrayExpress	Q9Y2G5.
Bgee	Q9Y2G5.
CleanEx	HS_POFUT2.
GermOnline	ENSG00000186866. Homo sapiens.
Family and domain databases
InterPro	IPR019378. GDP-Fuc_prot_O-FucTrfase. [Graphical view]
Pfam	PF10250. O-FucT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	45054.
SOURCE	Search...

Entry information

Entry name

OFUT2_HUMAN

Accession

Primary (citable) accession number: Q9Y2G5
Secondary accession number(s): Q6PJV1 , Q7Z4N0, Q8WWU6, Q9BQS4, Q9BQS5, Q9UFY3

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	February 15, 2005
Last modified:	June 16, 2009
This is version 61 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)