gene

SPTLC1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SPTLC1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

226Connections

1Hypotheses

1Analyses

50Outgoing

50Incoming

Summary

Page for SPTLC1 - Serine Palmitoyltransferase

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🧬 Gene Info

Gene Symbol	SPTLC1
Full Name	SPTLC1 - Serine Palmitoyltransferase
Aliases	Page for SPTLC1, Serine Palmitoyltransferase 1
Chromosome	9q22.31
Protein Type	Gene
Target Class	Protein
Function	The canonical reaction catalyzed by SPT involves the condensation of L-serine with palmitoyl-CoA (C16:0) to produce 3-ketosphinganine, which is subsequently reduced to sphinganine (dihydrosphingosine)
Mechanism of Action	Prioritized from 1 SciDEX hypotheses, including: APOE-Mediated Synaptic Lipid Raft Stabilization
Druggability	Medium (0.50)
Clinical Stage	Phase I
Molecular Weight	53 kDa
Amino Acids	473 aa
Pathways	Cholesterol, Sphingolipid biosynthesis, Sphingolipid metabolism
UniProt ID	O15269
NCBI Gene ID	Search NCBI
GeneCards	SPTLC1
Human Protein Atlas	SPTLC1
Associated Diseases	ALS, Amyotrophic Lateral Sclerosis, Early-Onset Motor Neuron Disease, Juvenile Amyotrophic Lateral Sclerosis
Interactions	ORMDL proteins, SPTLC2, ABCA1, RAB7, ALS, RNA
SciDEX Target	View Target Profile
SciDEX Hypotheses	APOE-Mediated Synaptic Lipid Raft Stabilization
KG Connections	226 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: SPTLC1 — AlphaFold O15269 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (20)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    SPTLC1["SPTLC1"]
    Als{"Als"}
    SPTLC1 -->|"associated_with"| Als
    Amyotrophic_Lateral_Sclerosis{"Amyotrophic Lateral Sclerosis"}
    SPTLC1 -->|"associated_with"| Amyotrophic_Lateral_Sclerosis
    Neuropathy{"Neuropathy"}
    SPTLC1 -->|"associated_with"| Neuropathy
    DNA["DNA"]
    SPTLC1 -->|"associated_with"| DNA
    Sphingolipid(["Sphingolipid"])
    SPTLC1 -->|"associated_with"| Sphingolipid
    Sphingolipid_biosynthesis(["Sphingolipid biosynthesis"])
    SPTLC1 -->|"involved_in"| Sphingolipid_biosynthesis
    ORMDL_proteins("ORMDL proteins")
    SPTLC1 -->|"interacts_with"| ORMDL_proteins
    Amyotrophic_lateral_sclerosis{"Amyotrophic lateral sclerosis"}
    SPTLC1 -->|"associated_with"| Amyotrophic_lateral_sclerosis
    Juvenile_amyotrophic_lateral_sclerosis{"Juvenile amyotrophic lateral sclerosis"}
    SPTLC1 -->|"associated_with"| Juvenile_amyotrophic_lateral_sclerosis
    Sphingolipid_metabolism(["Sphingolipid metabolism"])
    SPTLC1 -->|"regulates"| Sphingolipid_metabolism
    n_1_Deoxysphingolipids["/"1-Deoxysphingolipids"/"]
    SPTLC1 -->|"involved_in"| n_1_Deoxysphingolipids
    AMYOTROPHIC_LATERAL_SCLEROSIS["AMYOTROPHIC LATERAL SCLEROSIS"]
    AMYOTROPHIC_LATERAL_SCLEROSIS -->|"associated_with"| SPTLC1
    ALS["ALS"]
    ALS -->|"associated_with"| SPTLC1
    AND["AND"]
    AND -->|"associated_with"| SPTLC1
    Serine_palmitoyltransferase("Serine palmitoyltransferase")
    Serine_palmitoyltransferase -->|"involved_in"| SPTLC1

Outgoing (165)

Target	Relation	Type	Str
Juvenile Amyotrophic Lateral Sclerosis	associated_with	disease	0.95
De Novo Variants	biomarker_for	biomarker	0.90
Amyotrophic Lateral Sclerosis	risk_factor_for	disease	0.90
Early-Onset Motor Neuron Disease	causes	phenotype	0.85
lipid metabolism	participates_in	pathway	0.80
ALS	regulates	disease	0.70
oxidative stress response	participates_in	pathway	0.70
oligodendrocytes	expressed_in	cell_type	0.70
macrophages	expressed_in	cell_type	0.70
sphingolipid metabolism	participates_in	pathway	0.65
Als	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	associated_with	disease	0.65
Neuropathy	associated_with	disease	0.65
Amyotrophic Lateral Sclerosis	interacts_with	disease	0.65
Als	interacts_with	disease	0.65
Als	expressed_in	disease	0.65
Fibrosis	activates	disease	0.65
Neurodegeneration	associated_with	disease	0.65
Atherosclerosis	activates	disease	0.65
Obesity	activates	disease	0.65
Amyotrophic Lateral Sclerosis	activates	disease	0.65
Neuropathy	causes	disease	0.65
Cardiovascular	expressed_in	disease	0.65
ALS	expressed_in	disease	0.65
Cardiovascular	interacts_with	disease	0.65
Sphingolipid biosynthesis	involved_in	pathway	0.60
ORMDL proteins	interacts_with	protein	0.60
Amyotrophic lateral sclerosis	associated_with	disease	0.60
Juvenile amyotrophic lateral sclerosis	associated_with	disease	0.60
Sphingolipid metabolism	regulates	pathway	0.60
1-Deoxysphingolipids	involved_in	drug	0.60
KCNJ6	expressed_in	gene	0.60
STRAP	expressed_in	gene	0.60
ABCA1	inhibits	gene	0.60
RAB7	associated_with	gene	0.60
NGFR	associated_with	gene	0.60
Pyramidal	activates	cell_type	0.60
SPTLC2	expressed_in	gene	0.60
CERS2	associated_with	gene	0.60
JAG2	associated_with	gene	0.60
CCT5	associated_with	gene	0.60
GAIN	associated_with	gene	0.60
Mast Cell	activates	cell_type	0.60
SPTLC2	regulates	gene	0.60
Rb	expressed_in	protein	0.60
CERS2	therapeutic_target	gene	0.60
obesity	activates	disease	0.60
obesity	expressed_in	disease	0.60
obesity	inhibits	disease	0.60
monocytes	regulates	cell_type	0.60

Incoming (61)

Source	Relation	Type	Str
h-58e655ee	targets_gene	hypothesis	0.90
ALS	regulates	gene	0.70
Serine palmitoyltransferase	involved_in	protein	0.60
SPTLC2	expressed_in	gene	0.60
CERS2	therapeutic_target	gene	0.60
JAG2	associated_with	gene	0.60
SPTLC2	regulates	gene	0.60
CCT5	associated_with	gene	0.60
KCNJ6	expressed_in	gene	0.60
ABCA1	inhibits	gene	0.60
NGFR	associated_with	gene	0.60
RAB7	associated_with	gene	0.60
STRAP	expressed_in	gene	0.60
RAB7	interacts_with	gene	0.60
RAB7	causes	gene	0.60
ABCA1	transported_by	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	associated_with	gene	0.60
ALS	associated_with	gene	0.60
AND	associated_with	gene	0.60
APOPTOSIS	activates	gene	0.60
AUTOPHAGY	activates	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	interacts_with	gene	0.60
NEURODEGENERATION	associated_with	gene	0.60
GENES	expressed_in	gene	0.60
AND	interacts_with	gene	0.60
GENES	associated_with	gene	0.60
NEUROTOXICITY	activates	gene	0.60
AMYOTROPHIC LATERAL SCLEROSIS	activates	gene	0.60
RNA	inhibits	gene	0.60
ALS	interacts_with	gene	0.60
ALS	causes	gene	0.60
ALS	expressed_in	gene	0.60
ALS	implicated_in	gene	0.60
ALS	disrupts	gene	0.60
ALS	treats	gene	0.60
APOE4	associated_with	gene	0.55
APOE4	activates	gene	0.55
apoptosis	regulates	pathway	0.55
PCSK9	activates	gene	0.55
CLUSTERIN	co_discussed	protein	0.50
SPTLC2	interacts_with	gene	0.50
CERS2	regulates	gene	0.50
ABCA1	interacts_with	gene	0.50
ABCA1	regulates	gene	0.50
ABCA1	activates	gene	0.50
CCT5	interacts_with	gene	0.50
GAIN	interacts_with	gene	0.50
ABCA1	co_expressed_with	gene	0.50
h-58e655ee	targets	hypothesis	0.50
GENES	interacts_with	gene	0.50

Targeting Hypotheses (1)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
APOE-Mediated Synaptic Lipid Raft Stabilization	0.426	neurodegeneration	Mechanistic role of APOE in neurodegener

Mentioning Analyses (1)

Scientific analyses that reference this entity

Mechanistic role of APOE in neurodegeneration

neurodegeneration | 2026-04-01 | 6 hypotheses Top: 0.615

Related Papers (14)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year
ORMDL Proteins Turnover via Proteasome and Autophagy Is Cell-Type Dependent and [PMID:41806112]	Mrkacek M, Tumova M, Puskasu A, Utekal P	FASEB journal : official publi	2026
Lipidome Plasticity Preserves Membrane Function in Sphingolipid-Depleted HAP1 Ce [PMID:41239795]	Monasterio BG, García-Arribas AB, Riezma	FASEB journal : official publi	2025
Sphingomyelin synthase-related protein is a regulator of serine palmitoyltransfe [PMID:40998032]	Li X, Li Z, Chiang YP, Worgall T, Souaia	Journal of lipid research	2025
Recurrent de novo [PMID:38041679]	["Syeda S", "Lone M", "Mohassel P", "Don	Journal of neurology, neurosur	2024
Lactate is an epigenetic metabolite that drives survival in model systems of gli [PMID:35948010]	Torrini C, Nguyen TTT, Shu C, Mela A, Hu	Molecular cell	2022
Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model o [PMID:34986032]	["Antony A", "Ng N", "Lauto A", "Coorsse	DNA and cell biology	2022
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease [PMID:34875719]	["Hines T", "Tadenev A", "Lone M", "Hatt	Journal of anatomy	2022
Re-identification of individuals in genomic datasets using public face images. [PMID:34788101]	Venkatesaramani R, Malin BA, Vorobeychik	Science advances	2021
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Scl [PMID:34459874]	Johnson JO, Chia R, Miller DE, Li R, Kum	JAMA neurology	2021
Cryo-EM structures of Toll-like receptors in complex with UNC93B1. [PMID:33432245]	Ishida H, Asami J, Zhang Z, Nishizawa T,	Nature structural & molecular	2021
Assessing Cochlear Implant Performance in Older Adults Using a Single, Universal [PMID:30001281]	Sharma RK, Chen SY, Grisel J, Golub JS	Otology & neurotology : offici	2018
PINK1 Primes Parkin-Mediated Ubiquitination of PARIS in Dopaminergic Neuronal Su [PMID:28122242]	Lee Y, Stevens DA, Kang SU, Jiang H, Lee	Cell reports	2017
Molecular genetics of hereditary sensory neuropathies. [PMID:16775373]	["Auer-Grumbach M", "Mauko B", "Auer-Gru	Neuromolecular medicine	2006
1.6-Angstroms crystal structure of EntA-im. A bacterial immunity protein conferr [PMID:15753083]	Johnsen L, Dalhus B, Leiros I, Nissen-Me	The Journal of biological chem	2005

SPTLC1

Understanding Entity Pages

Summary

Wiki Pages (20)

SPTLC1 - Serine Palmitoyltransferase

Lipid Metabolism Dysregulation in Neurodegeneration

Sphingolipid Metabolism in Neurodegeneration

Sphingolipid Signaling Pathway in Neurodegeneration

Hereditary Sensory and Autonomic Neuropathy (HSAN)

Serine Palmitoyltransferase Protein

Sphingolipid Metabolism in Neurodegeneration

SPTLC1 Protein (Serine Palmitoyltransferase 1)

SPTLC2 Gene

JAG2 Gene

Ceramide Modulation Therapy for Neurodegeneration

NGFR Gene

cct5

STRAP — Serine Threonine Kinase Receptor Associated Protein

Serine Palmitoyltransferase 1 Protein

External Cuneate Nucleus Neurons

SPTLC2 Protein

KCNJ6 — Potassium Inwardly Rectifying Channel Subfamily J Member 6

Proteins