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LARGE1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:9215, HGNC:6511, LARGE xylosyl- and glucuronyltransferase 1, LARGE, LARGE1, MDC1D, MDDGA6, MDDGB6, MIM:603590, NM_001362949, NM_001362951, NM_001362953, NM_001378624, NM_001378625, NM_001378626, NM_001378627, NM_001378628, NM_001378629, NM_001378630, NM_001378631, NM_004737, NM_133642, NP_001349878, NP_001349880, NP_001349882, NP_001365553, NP_001365554, NP_001365555, NP_001365556, NP_001365557, NP_001365558, NP_001365559, NP_001365560, NP_004728, NP_598397, XM_011530513, XM_024452302, XM_024452303, XP_011528815, XP_024308070, XP_024308071, XR_002958722
Omim:OMIM:603590
Id:ENSG00000133424
Hgnc:HGNC:6511
Entrez:9215
Ensembl:ENSG00000133424
Description:LARGE xylosyl- and glucuronyltransferase 1
This gene encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. The protein encoded by this gene is the glycotransferase that adds the final xylose and glucuronic acid to alpha-dystroglycan and thereby allows alpha-dystroglycan to bind ligands including laminin 211 and neurexin. Mutations in this gene cause several forms of congenital muscular dystrophy characterized by cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2018]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View LARGE1's neighborhood in the knowledge graph.

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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 LARGE1.

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 LARGE1.

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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 LARGE1.

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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 LARGE1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

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GSE135350 2 V 4 DEXAMETHASONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE220806 progesterone fibroblast 1 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE172016 2 V 0 PACLITAXEL HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120370 0 V 6 THROMBIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE148200 0 V 2 GEMCITABINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE142210 11 V 10 PANOBINOSTAT HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195663 cisplatin 0 v 3 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135350 2 V 4 DEXAMETHASONE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE220806 progesterone fibroblast 1 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE172016 2 V 0 PACLITAXEL HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120370 0 V 6 THROMBIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE148200 0 V 2 GEMCITABINE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE142210 11 V 10 PANOBINOSTAT HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195663 cisplatin 0 v 3 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

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    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.