SPTAN1 (Gene)

Synonyms:DEE5, EIEE5, ENTREZ:6709, HGNC:11273, MIM:182810, NEAS, NM_001130438, NM_001195532, NM_001363759, NM_001363765, NM_001375310, NM_001375311, NM_001375312, NM_001375313, NM_001375314, NM_001375318, NM_003127, NP_001123910, NP_001182461, NP_001350688, NP_001350694, NP_001362239, NP_001362240, NP_001362241, NP_001362242, NP_001362243, NP_001362247, NP_003118, SPTA2, SPTAN1, XM_006717246, XM_006717247, XM_006717249, XM_006717250, XM_006717251, XM_006717252, XM_006717253, XM_017015060, XP_006717309, XP_006717310, XP_006717312, XP_006717313, XP_006717314, XP_006717315, XP_006717316, XP_016870549, spectrin alpha, non-erythrocytic 1
Omim:OMIM:182810
Id:ENSG00000197694
Hgnc:HGNC:11273
Entrez:6709
Description:spectrin alpha, non-erythrocytic 1
Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010]

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Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SPTAN1's neighborhood in the knowledge graph.

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 SPTAN1.

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 SPTAN1.

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 SPTAN1.

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 SPTAN1.

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