CFDE Workbench
DataKnowledgeCloudtrainingcoordination
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.

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 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.

Submit
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.

Submit
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

GSE135350 2 V 4 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226249 pirfenidone HL 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE102757 1 V 0 PANOBINOSTAT MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE125211 0 V 1 NICOTINAMIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE239844 6 V 10 CRIZOTINIB HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226285 3 V 0 GLUTATHIONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE135350 3 V 5 DEXAMETHASONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN 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

GSE255432 7 V 3 IMEGLIMIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE135350 2 V 4 DEXAMETHASONE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226249 pirfenidone HL 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE102757 1 V 0 PANOBINOSTAT MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE125211 0 V 1 NICOTINAMIDE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE239844 6 V 10 CRIZOTINIB HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226285 3 V 0 GLUTATHIONE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135350 3 V 5 DEXAMETHASONE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE152441,GSE152442 6 V 4 FOLIC ACID HUMAN 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

    GSE255432 7 V 3 IMEGLIMIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

    • DISPLAY PER PAGE
    CFDE Workbench
    Report a bug
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    @CFDE Workbench 2026
    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.