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SPTLC1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:10558, HGNC:11277, HSAN1, HSN1, LBC1, LCB1, MIM:605712, NM_001281303, NM_001368272, NM_001368273, NM_006415, NM_178324, NP_001268232, NP_001355201, NP_001355202, NP_006406, NP_847894, SPT1, SPTI, SPTLC1, XM_011518138, XM_017014201, XM_024447378, XM_024447379, XP_011516440, XP_016869690, XP_024303146, XP_024303147, serine palmitoyltransferase long chain base subunit 1
Omim:OMIM:605712
Id:ENSG00000090054
Hgnc:HGNC:11277
Entrez:10558
Ensembl:ENSG00000090054
Description:serine palmitoyltransferase long chain base subunit 1
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SPTLC1'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 SPTLC1.

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 SPTLC1.

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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 SPTLC1.

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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 SPTLC1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

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

GSE148200 0 V 2 GEMCITABINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE48812 sulforaphane 4 v 10 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE184210 0 V 1 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE74251 decitabine MCF-7 0 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE192860 0 V 1 TRIFLUOPERAZINE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE48812 4 V 10 SULFORAPHANE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    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

    GSE148200 0 V 2 GEMCITABINE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE48812 sulforaphane 4 v 10 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139987 1 V 0 ROSIGLITAZONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE184210 0 V 1 GLUCAGON MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE139987 1 V 2 ROSIGLITAZONE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE74251 decitabine MCF-7 0 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE192860 0 V 1 TRIFLUOPERAZINE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE48812 4 V 10 SULFORAPHANE HUMAN DN

    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.