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GBA1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:2629, GBA, GBA1, GCB, GLUC, HGNC:4177, MIM:606463, NM_000157, NM_001005741, NM_001005742, NM_001005749, NM_001005750, NM_001171811, NM_001171812, NP_000148, NP_001005741, NP_001005742, NP_001165282, NP_001165283, glucosylceramidase beta
Omim:OMIM:606463
Id:ENSG00000177628
Hgnc:HGNC:4177
Entrez:2629
Ensembl:ENSG00000177628
Description:glucosylceramidase beta 1
This gene encodes a lysosomal membrane protein that cleaves the beta-glucosidic linkage of glycosylceramide, an intermediate in glycolipid metabolism. Mutations in this gene cause Gaucher disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GBA1's neighborhood in the knowledge graph.

Submit
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 GBA1.

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 GBA1.

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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 GBA1.

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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 GBA1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE252944 AKT inhibition 10 v 15 human dn

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 0 V 3 PALMITIC ACID HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE114492 GSE153671 KMT2D inhibition 6 v 8 human up

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

GSE102467 3 V 2 PAZOPANIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195568 palbociclib 2 v 10 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE97616 GSE97617 NOK overexpression HEK RNA Small Interfering 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228430 FABP5 inhibition Huh-7 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE252944 AKT inhibition 10 v 15 human dn

    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 0 V 3 PALMITIC ACID HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE114492 GSE153671 KMT2D inhibition 6 v 8 human up

    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

    GSE102467 3 V 2 PAZOPANIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195568 palbociclib 2 v 10 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE168401 2 V 0 HARMINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE97616 GSE97617 NOK overexpression HEK RNA Small Interfering 0 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228430 FABP5 inhibition Huh-7 2 v 0 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.