InnateDB Protein
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IDBP-51211.6
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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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POGLUT1
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Protein Name
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protein O-glucosyltransferase 1
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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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ENSP00000295588
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InnateDB Gene
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IDBG-51209 (POGLUT1)
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Protein Structure
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Function |
Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding. {ECO:0000269PubMed:21081508, ECO:0000269PubMed:21490058, ECO:0000269PubMed:21949356}.
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Subcellular Localization |
Endoplasmic reticulum lumen {ECO:0000269PubMed:16524674, ECO:0000269PubMed:24387993}.
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Disease Associations |
Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269PubMed:24387993}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level). {ECO:0000269PubMed:16524674, ECO:0000269PubMed:24387993}.
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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 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
3
[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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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR006598
Lipopolysaccharide-modifying protein
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PFAM |
PF05686
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PRINTS |
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PIRSF |
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SMART |
SM00672
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TIGRFAMs |
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Modification |
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SwissProt |
Q8NBL1
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PhosphoSite |
PhosphoSite-Q8NBL1
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TrEMBL |
B4DJ97
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UniProt Splice Variant |
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Entrez Gene |
56983
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UniGene |
Hs.602158
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RefSeq |
NP_689518
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HUGO |
HGNC:22954
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OMIM |
615618
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CCDS |
CCDS2988
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HPRD |
17475
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IMGT |
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EMBL |
AC073352
AC074271
AK075444
AK222937
AK295984
AK315367
AY298903
AY358581
BC030614
BC048810
CH471052
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GenPept |
AAH30614
AAH48810
AAP56253
AAQ88944
BAC11625
BAD96657
BAG37760
BAG58759
EAW79570
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