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CFDE Workbench

GCH1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:DYT14, DYT5, DYT5a, ENTREZ:2643, GCH, GCH1, GTP cyclohydrolase 1, GTP-CH-1, GTPCH1, HGNC:4193, HPABH4B, MIM:600225, NM_000161, NM_001024024, NM_001024070, NM_001024071, NP_000152, NP_001019195, NP_001019241, NP_001019242, XM_017021218, XP_016876707
Omim:OMIM:600225
Id:ENSG00000131979
Hgnc:HGNC:4193
Entrez:2643
Ensembl:ENSG00000131979
Description:GTP cyclohydrolase 1
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View GCH1'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 GCH1.

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 GCH1.

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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 GCH1.

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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 GCH1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE120612 etoposide leukocyte 7 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE118548 trametinib T84 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE163297 doxorubicin 0 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE99875 everolimus 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Gene Set

GSE199859 A-7 HCA7 1 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120612 7 V 2 ETOPOSIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE110709 GSK-J4 5 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE261563 CX-5461 7 v 4 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE120612 etoposide leukocyte 7 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE118548 trametinib T84 1 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE163297 doxorubicin 0 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE179667 NVP-BEZ235 U-87MG Uppsala 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE99875 everolimus 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    GSE199859 A-7 HCA7 1 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120612 7 V 2 ETOPOSIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE110709 GSK-J4 5 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE261563 CX-5461 7 v 4 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.