POGLUT1

GENE INFORMATION

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Gene name

POGLUT1 (HGNC Symbol)

Synonyms

9630046K23Rik, C3orf9, hCLP46, KDELCL1, KTELC1, MDS010, MDSRP, MGC32995, Rumi

Description

Protein O-glucosyltransferase 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a protein with both O-glucosyltransferase and O-xylosyltransferase activity which localizes to the lumen of the endoplasmic reticulum. This protein has a carboxy-terminal KTEL motif which is predicted to function as an endoplasmic reticulum retention signal. This gene is an essential regulator of Notch signalling and likely plays a role in cell fate and tissue formation during development. It may also play a role in the pathogenesis of leukemia. Mutations in this gene have been associated with the autosomal dominant genodermatosis Dowling-Degos disease 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Chromosome

3

Cytoband

q13.33

Chromosome location (bp)

119187785 - 119213555

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163389 (version 75.37)

Entrez gene

56983

UniProt

Q8NBL1 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NBL1

Antibodypedia

POGLUT1 antibodies
 

PROTEIN VIEW

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POGLUT1-001
 
POGLUT1-002
 
POGLUT1-003
 
POGLUT1-004
 
POGLUT1-006
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

POGLUT1-001 ENSP00000295588
ENST00000295588
Q8NBL1
Show all »
Show » Show » 392 46.2 Yes 0
POGLUT1-002 ENSP00000419288
ENST00000497447
B4DVA9
Show all »
Show » 187 21.7 Yes 0
POGLUT1-003 ENSP00000419876
ENST00000486607
F8WEW4
Show all »
Show » 163 19.2 Yes 0
POGLUT1-004 ENSP00000419865
ENST00000476573
Show » 189 21.9 No 0
POGLUT1-006 ENSP00000420594
ENST00000460339
F8WDC4
Show all »
Show » 111 12.4 Yes 0