InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POFUT2

Summary

InnateDB Protein

IDBP-5799.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POFUT2

Protein Name

protein O-fucosyltransferase 2

Synonyms

C21orf80; FUT13;

Species

Homo sapiens

Ensembl Protein

ENSP00000335427

InnateDB Gene

IDBG-5793 (POFUT2)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000250, ECO:0000269PubMed:11067851, ECO:0000269PubMed:16464858, ECO:0000269PubMed:17395588, ECO:0000269PubMed:17395589, ECO:0000269PubMed:22588082}.

Subcellular Localization

Endoplasmic reticulum {ECO:0000269PubMed:15233996}. Golgi apparatus {ECO:0000269PubMed:15233996}. Note=Mainly located in the endoplasmic reticulum.

Disease Associations

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. {ECO:0000269PubMed:15233996}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0046922	peptide-O-fucosyltransferase activity

Biological Process

GO:0006004	fucose metabolic process
GO:0036066	protein O-linked fucosylation
GO:0051046	regulation of secretion

Cellular Component

GO:0005783	endoplasmic reticulum
GO:0005794	Golgi apparatus

Protein Structure and Domains

PDB ID

InterPro

IPR008032 Protein of unknown function DUF749
IPR019378 GDP-fucose protein O-fucosyltransferase

PFAM

PF05370
PF10250

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9Y2G5

PhosphoSite

PhosphoSite-Q9Y2G5

TrEMBL

B4DNV6

UniProt Splice Variant

Entrez Gene

23275

UniGene

Hs.619078

RefSeq

XP_006724047

HUGO

HGNC:14683

OMIM

610249

CCDS

HPRD

09846

IMGT

EMBL

AB023175 AJ302079 AJ302080 AJ575591 AK298080 AL110285 AL163301 AY066015 BC011044 BC064623

GenPept

AAH11044 AAH64623 AAL47681 BAA76802 BAG60368 CAB53715 CAB90496 CAC24556 CAC24557 CAE01472