POGLUT1 (Gene)

Synonyms:C3orf9, CLP46, ENTREZ:56983, HGNC:22954, KDELCL1, KTELC1, LGMD2Z, LGMDR21, MDS010, MDSRP, MIM:615618, NM_152305, NP_689518, NR_024265, POGLUT1, Rumi, XM_006713705, XM_017006878, XM_017006879, XM_024453643, XP_006713768, XP_016862367, XP_016862368, XP_024309411, XR_001740211, XR_001740212, hCLP46, protein O-glucosyltransferase 1
Omim:OMIM:615618
Id:ENSG00000163389
Hgnc:HGNC:22954
Entrez:56983
Description:protein O-glucosyltransferase 1
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]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View POGLUT1's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with POGLUT1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using POGLUT1.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for POGLUT1.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with POGLUT1.

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