InnateDB Protein
|
IDBP-5797.6
|
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
|
ENSP00000339613
|
InnateDB Gene
|
IDBG-5793 (POFUT2)
|
Protein Structure
|
|
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 |
|
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
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0008417
|
fucosyltransferase activity
|
GO:0046922
|
peptide-O-fucosyltransferase activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR008032
Protein of unknown function DUF749
IPR019378
GDP-fucose protein O-fucosyltransferase
|
PFAM |
PF05370
PF10250
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9Y2G5
|
PhosphoSite |
PhosphoSite-Q9Y2G5
|
TrEMBL |
B4DNV6
|
UniProt Splice Variant |
|
Entrez Gene |
23275
|
UniGene |
Hs.619078
|
RefSeq |
NP_598368
|
HUGO |
HGNC:14683
|
OMIM |
610249
|
CCDS |
CCDS13719
|
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
|
|
|