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CFDE Workbench

ACTA1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ACTA, ACTA1, ASMA, CFTD, CFTD1, CFTDM, ENTREZ:58, HGNC:129, MIM:102610, MPFD, NEM1, NEM2, NEM3, NM_001100, NP_001091, SHPM, actin alpha 1, skeletal muscle
Omim:OMIM:102610
Id:ENSG00000143632
Hgnc:HGNC:129
Entrez:58
Ensembl:ENSG00000143632
Description:actin alpha 1, skeletal muscle
The product encoded by this gene belongs to the actin family of proteins, which are highly conserved proteins that play a role in cell motility, structure and integrity. Alpha, beta and gamma actin isoforms have been identified, with alpha actins being a major constituent of the contractile apparatus, while beta and gamma actins are involved in the regulation of cell motility. This actin is an alpha actin that is found in skeletal muscle. Mutations in this gene cause a variety of myopathies, including nemaline myopathy, congenital myopathy with excess of thin myofilaments, congenital myopathy with cores, and congenital myopathy with fiber-type disproportion, diseases that lead to muscle fiber defects with manifestations such as hypotonia. [provided by RefSeq, Sep 2019]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ACTA1'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 ACTA1.

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 ACTA1.

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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 ACTA1.

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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 ACTA1.

Results found

Linked to

 

Label

Description

 

Gene Set

T61-Colon Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

Gene Set

GSE226525 GSE226527 HNRNPH2 knockout 4 v 8 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226525 GSE226527 HNRNPH2 knockout 4 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE125862 dexamethasone T3 2Cr NKX2.1 Pt 3 2 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228357 OGA knockdown 3 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE234637 cytarabine 2 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE155852 0 V 2 APIGENIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE125862 2 V 0 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE214596,GSE214598 1 V 2 ROSIGLITAZONE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226525 GSE226527 HNRNPH2 knockout 6 v 8 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    T61-Colon Consensus

    Gene Set (Entity type)

    A Gene Set from MoTrPAC

  • Gene Set

    GSE226525 GSE226527 HNRNPH2 knockout 4 v 8 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226525 GSE226527 HNRNPH2 knockout 4 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE125862 dexamethasone T3 2Cr NKX2.1 Pt 3 2 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228357 OGA knockdown 3 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE234637 cytarabine 2 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE155852 0 V 2 APIGENIN MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE125862 2 V 0 DEXAMETHASONE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE214596,GSE214598 1 V 2 ROSIGLITAZONE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226525 GSE226527 HNRNPH2 knockout 6 v 8 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.