Free for academic non-profit institutions. Other users need a Commercial license
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]
SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) is a Protein Coding gene. Diseases associated with SPTLC1 include Neuropathy, Hereditary Sensory And Autonomic, Type Ia and Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are Sphingolipid signaling pathway and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity. An important paralog of this gene is SPTLC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003824 | catalytic activity | IEA | -- |
GO:0004758 | contributes_to serine C-palmitoyltransferase activity | TAS,IDA | 25332431 |
GO:0005515 | protein binding | IPI | 19416851 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA,IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0017059 | serine C-palmitoyltransferase complex | IDA | 19416851 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sphingolipid metabolism | ||
2 | Metabolism |
.40
|
|
3 | Sphingolipid signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | TAS | 9363775 |
GO:0006686 | sphingomyelin biosynthetic process | IEA | -- |
GO:0009058 | biosynthetic process | IEA | -- |
GO:0030148 | sphingolipid biosynthetic process | IDA,TAS | 19416851 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 16 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Vitamin E | Approved, Vet_approved | Nutra | 526,534 | |||
Serine | Investigational | Nutra | Agonist, Full agonist, Target | Weak endogenous glycine receptor agonist | 1156 | |
Coenzyme A | Investigational | Nutra | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
hexadecanoyl-CoA |
|
|
||||
Palmityl-CoA |
|
1763-10-6 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SPTLC1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SPTLC1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SPTLC1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sptlc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sptlc1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SPTLC1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SPTLC1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SPTLC1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sptlc1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7364 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sptlc1 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9491 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Spt-I 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010427 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | sptl-1 30 31 |
|
OneToOne | |
C23H3.4 32 |
|
|
|||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09955g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR145C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | LCB1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0806900 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC18E5.02c 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06870 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637417 | Uncertain Significance: Charcot-Marie-Tooth disease | 92,080,046(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
637875 | Uncertain Significance: Charcot-Marie-Tooth disease | 92,115,319(-) | A/G | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
640011 | Uncertain Significance: Neuropathy hereditary sensory and autonomic type 1 | 92,059,237(-) | T/C | MISSENSE_VARIANT | |
642855 | Uncertain Significance: Neuropathy hereditary sensory and autonomic type 1 | 92,112,481(-) | G/A | NONSENSE,FIVE_PRIME_UTR_VARIANT | |
651220 | Uncertain Significance: Charcot-Marie-Tooth disease; Neuropathy hereditary sensory and autonomic type 1 | 92,038,334(-) | G/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary sensory and autonomic, type ia |
|
|
hereditary sensory and autonomic neuropathy type 1 |
|
|
neuropathy, hereditary sensory, type ie |
|
|
charcot-marie-tooth disease |
|
|
charcot-marie-tooth disease/hereditary motor and sensory neuropathy |
|
|