| Gene Symbol |
POGLUT1
|
| Entrez Gene |
56983
|
| Alt Symbol |
C3orf9, CLP46, KDELCL1, KTELC1, MDS010, MDSRP, Rumi, hCLP46
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
protein O-glucosyltransferase 1
|
| Other Description |
9630046K23Rik|CAP10-like 46 kDa protein|KDELC family like 1|KTEL (Lys-Tyr-Glu-Leu) containing 1|KTEL motif-containing protein 1|O-glucosyltransferase Rumi homolog|hRumi|myelodysplastic syndromes relative protein|protein O-xylosyltransferase|x 010 protein
|
| Swissprots |
Q8NBL1 Q8N2T1 Q53GJ4 B2RD13
|
| Accessions |
CAI72128 EAW79570 Q8NBL1 AF168711 AAF87313 AK027012 AK075444 BAC11625 AK126736 AK222937 BAD96657 AK295984 BAG58759 AK301002 BAG62621 AK315367 BAG37760 AY298903 AAP56253 AY358581 AAQ88944 BC030614 AAH30614 BC048810 AAH48810 BP347179 CD517010 HQ447221 ADQ31708 XM_006713704 XP_006713767 XM_006713705 XP_006713768 XM_011512997 XP_011511299 NM_152305 NP_689518 NR_024265
|
| 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:0000269|PubMed:21081508, ECO:0000269|PubMed:21490058, ECO:0000269|PubMed:21949356}.
|
| Subcellular Location |
Endoplasmic reticulum lumen {ECO:0000269|PubMed:16524674, ECO:0000269|PubMed:24387993}.
|
| 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:0000269|PubMed:16524674, ECO:0000269|PubMed:24387993}.
|
| Top Pathways |
Other types of O-glycan biosynthesis
|