InnateDB Protein
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IDBP-21905.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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B3GALTL
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Protein Name
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beta 1,3-galactosyltransferase-like
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000343002
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InnateDB Gene
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IDBG-21901 (B3GALTL)
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Protein Structure
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Function |
O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. {ECO:0000269PubMed:16899492}.
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Subcellular Localization |
Endoplasmic reticulum membrane {ECO:0000255PROSITE-ProRule:PRU10138, ECO:0000269PubMed:16899492}; Single-pass type II membrane protein {ECO:0000269PubMed:16899492}.
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Disease Associations |
Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. {ECO:0000269PubMed:16909395}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed, with highest levels in testis and uterus. {ECO:0000269PubMed:12943678, ECO:0000269PubMed:16899492}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0016757
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transferase activity, transferring glycosyl groups
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR003378
Fringe-like
IPR029044
Nucleotide-diphospho-sugar transferases
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PFAM |
PF02434
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q6Y288
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PhosphoSite |
PhosphoSite-Q6Y288
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
145173
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UniGene |
Hs.629377
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RefSeq |
NP_919299
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HUGO |
HGNC:20207
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OMIM |
610308
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CCDS |
CCDS9341
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HPRD |
12513
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IMGT |
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EMBL |
AB101481
AK291273
AL137142
AL138965
AY190526
BC068595
CH471075
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GenPept |
AAH68595
AAO37647
BAD13528
BAF83962
CAH73049
CAI12432
EAX08483
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