Aliases for SPTLC1 Gene
Aliases for SPTLC1 Gene
External Ids for SPTLC1 Gene
- HGNC: 11277
- Entrez Gene: 10558
- Ensembl: ENSG00000090054
- OMIM: 605712
- UniProtKB: O15269
Previous HGNC Symbols for SPTLC1 Gene
- HSN1
Previous GeneCards Identifiers for SPTLC1 Gene
- GC09M085621
- GC09M086522
- GC09M088092
- GC09M090134
- GC09M091873
- GC09M093833
- GC09M094793
- GC09M064471
Summaries for SPTLC1 Gene
-
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]
GeneCards Summary for SPTLC1 Gene
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 Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity.
UniProtKB/Swiss-Prot for SPTLC1 Gene
-
Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.
Additional gene information for SPTLC1 Gene
- Monarch Initiative
- Search for SPTLC1 at DataMed
- Search for SPTLC1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPTLC1 Gene
Genomics for SPTLC1 Gene
GeneHancer (GH) Regulatory Elements for SPTLC1 Gene
Promoters and enhancers for SPTLC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around SPTLC1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SPTLC1 gene promoter:
-
- Max1
- c-Myc
- MEF-2A
- aMEF-2
- E47
- COMP1
- HSF1 (long)
- HSF1short
- AML1a
Regulatory Element Products
Genomic Locations for SPTLC1 Gene
Genomic Locations for SPTLC1 Gene
- chr9:92,000,087-92,115,474
- (GRCh38/hg38)
- Size:
- 115,388 bases
- Orientation:
- Minus strand
- chr9:94,793,427-94,877,690
- (GRCh37/hg19)
- Size:
- 84,264 bases
- Orientation:
- Minus strand
Genomic View for SPTLC1 Gene
Genes around SPTLC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9q22.31 by Entrez Gene
- 9q22.31 by HGNC
- 9q22.31 by Ensembl
SPTLC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SPTLC1 Gene
Proteins for SPTLC1 Gene
-
Protein details for SPTLC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15269-SPTC1_HUMAN
- Recommended name:
- Serine palmitoyltransferase 1
- Protein Accession:
- O15269
- A8K681
- Q5VWB4
- Q96IX6
Protein attributes for SPTLC1 Gene
- Size:
- 473 amino acids
- Molecular mass:
- 52744 Da
- Cofactor:
- Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
- Quaternary structure:
-
- Heterodimer with SPTLC2 or SPTLC3. Component of the serine palmitoyltransferase (SPT) complex, composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB. Interacts with SPTSSA and SPTSSB; the interaction is direct. Interacts with ORMDL3.
Protein Expression for SPTLC1 Gene
Post-translational modifications for SPTLC1 Gene
- Phosphorylation at Tyr-164 inhibits activity and promotes cell survival.
- Ubiquitination at isoforms=375, isoforms=197, and posLast=5757
- Modification sites at PhosphoSitePlus
Other Protein References for SPTLC1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SPTLC1
- Novus Biologicals Antibodies for SPTLC1
-
Abcam antibodies for SPTLC1
- Invitrogen Antibodies for SPTLC1 (AFLGC-SPTLC1)
- GeneTex SPTLC1 Antibody for SPTLC1
-
Custom Antibody ServicesProSci Antibodies for SPTLC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SPTLC1
Protein Products
-
OriGene Purified Proteins for SPTLC1
- Search Origene for MassSpec and Protein Over-expression Lysates for SPTLC1
- Origene Custom Protein Services for SPTLC1
- Search GeneTex for Proteins for SPTLC1
-
Abcam proteins for SPTLC1
Assay Products
- antibodies-online: Search results for 4 available SPTLC1 Elisa Kits ranked by validation data
- Compare Top SPTLC1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SPTLC1 Gene
Domains & Families for SPTLC1 Gene
Gene Families for SPTLC1 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for SPTLC1 Gene
Suggested Antigen Peptide Sequences for SPTLC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O15269UniProtKB/Swiss-Prot:
SPTC1_HUMAN :- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
- Family:
-
- Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.
Function for SPTLC1 Gene
Molecular function for SPTLC1 Gene
- UniProtKB/Swiss-Prot Function:
- Serine palmitoyltransferase (SPT). The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.75 mM for serine {ECO:0000269 PubMed:20504773}; Vmax=1350 pmol/min/mg enzyme {ECO:0000269 PubMed:20504773};
Enzyme Numbers (IUBMB) for SPTLC1 Gene
Phenotypes From GWAS Catalog for SPTLC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004758 | serine C-palmitoyltransferase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 19416851 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
| GO:0030170 | pyridoxal phosphate binding | IEA | -- |
Phenotypes for SPTLC1 Gene
- MGI mutant phenotypes for SPTLC1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for SPTLC1:
-
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Reduced mammosphere formation
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased shRNA abundance (Z-score > 2)
- Increased vaccinia virus (VACV) infection
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Increased viability
Animal Models for SPTLC1 Gene
- MGI Knock Outs for SPTLC1:
-
- Sptlc1 Sptlc1<tm1Jia>
Animal Model Products
-
Taconic Biosciences Mouse Models for SPTLC1
- Cyagen custom Knockout/knockin (KOKI) mouse models for SPTLC1
-
CRISPR Products
-
OriGene CRISPR knockouts for SPTLC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTLC1
- genomics-online: gRNA clones - Search results for available SPTLC1 gene related products
- Applied Biological Materials CRISPR for SPTLC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC1
- GenScript: Design CRISPR guide RNA sequences for SPTLC1
miRNA for SPTLC1 Gene
- miRTarBase miRNAs that target SPTLC1
-
- hsa-mir-16-5p (MIRT001411)
- hsa-mir-374b-5p (MIRT016036)
- hsa-mir-122-5p (MIRT023301)
- hsa-mir-186-5p (MIRT045166)
- hsa-mir-92a-3p (MIRT049097)
- hsa-mir-1178-3p (MIRT554000)
- hsa-mir-3191-5p (MIRT554001)
- hsa-mir-6824-3p (MIRT554002)
- hsa-mir-6764-3p (MIRT554003)
- hsa-mir-330-5p (MIRT554004)
- hsa-mir-326 (MIRT554005)
- hsa-mir-518c-5p (MIRT554006)
- hsa-mir-6876-5p (MIRT554007)
- hsa-mir-4476 (MIRT554008)
- hsa-mir-195-5p (MIRT726460)
- hsa-mir-15b-5p (MIRT726461)
- hsa-mir-15a-5p (MIRT726462)
- hsa-mir-145-5p (MIRT732470)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTLC1
- Browse OriGene Inhibitory RNA Products For SPTLC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTLC1
- genomics-online: shRNA clones - Search results for available SPTLC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SPTLC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTLC1
- genomics-online: cdna clones - Search results for available SPTLC1 gene related products
- orf clones - Search results for available SPTLC1 gene related products
- Applied Biological Materials Clones for SPTLC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SPTLC1
No data available for Transcription Factor Targets and HOMER Transcription for SPTLC1 Gene
Localization for SPTLC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SPTLC1 Gene
- Endoplasmic reticulum membrane; Single-pass membrane protein.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| golgi apparatus | 1 |
- Endoplasmic reticulum (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IDA,IEA | -- |
| 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 |
Pathways & Interactions for SPTLC1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sphingolipid metabolism | ||
| 2 | Metabolism |
.37
|
|
| 3 | Sphingolipid signaling pathway | ||
Pathways by source for SPTLC1 Gene
2 BioSystems pathways for SPTLC1 Gene
4 Reactome pathways for SPTLC1 Gene
3 KEGG pathways for SPTLC1 Gene
UniProtKB/Swiss-Prot O15269-SPTC1_HUMAN
- Pathway: Lipid metabolism; sphingolipid metabolism.
Interacting Proteins for SPTLC1 Gene
Selected Interacting proteins:
ENSP00000262554
O15269-SPTC1_HUMAN
for SPTLC1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for SPTLC1
| 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 |
Drugs & Compounds for SPTLC1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Serine | Approved | Nutra | Full agonist, Agonist, Target | Weak endogenous glycine receptor agonist | 1104 | |
| Pyridoxal Phosphate | Approved, Investigational | Nutra | Target, cofactor | 17 | ||
| Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
| Vitamin E | Approved, Vet_approved | Nutra | 434,438 | |||
| 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 |
|
Drug Products
Transcripts for SPTLC1 Gene
mRNA/cDNA for SPTLC1 Gene
- (9) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (300) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000643599 2042 bps
- ENST00000642671 2289 bps
- ENST00000646481 1727 bps
- ENST00000646534 2982 bps
- ENST00000644140 2792 bps
Unigene Clusters for SPTLC1 Gene
- Serine palmitoyltransferase, long chain base subunit 1:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for SPTLC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTLC1
- genomics-online: gRNA clones - Search results for available SPTLC1 gene related products
- Applied Biological Materials CRISPR for SPTLC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC1
- GenScript: Design CRISPR guide RNA sequences for SPTLC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SPTLC1
- Browse OriGene Inhibitory RNA Products For SPTLC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPTLC1
- genomics-online: shRNA clones - Search results for available SPTLC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for SPTLC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SPTLC1
- genomics-online: cdna clones - Search results for available SPTLC1 gene related products
- orf clones - Search results for available SPTLC1 gene related products
- Applied Biological Materials Clones for SPTLC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SPTLC1 Gene
This gene is overexpressed in Bone (22.9) and Peripheral blood mononuclear cells (9.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SPTLC1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SPTLC1 Gene:
SPTLC1SOURCE GeneReport for Unigene cluster for SPTLC1 Gene:
Hs.90458mRNA Expression by UniProt/SwissProt for SPTLC1 Gene:
O15269-SPTC1_HUMAN
Tissue specificity:
Widely expressed. Not detected in small intestine.
Evidence on tissue expression from TISSUES for SPTLC1 Gene
- Nervous system(4.9)
- Kidney(4.4)
- Intestine(3.5)
- Skin(2.2)
- Spleen(2.2)
- Heart(2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SPTLC1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- lymphatic
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- bone marrow
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- sweat gland
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for SPTLC1
-
OriGene qPCR primer pairs and template standards for SPTLC1
- genomics-online: primer clones - Search results for available SPTLC1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SPTLC1 Gene
Orthologs for SPTLC1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SPTLC1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SPTLC1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SPTLC1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sptlc1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sptlc1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | SPTLC1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SPTLC1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SPTLC1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sptlc1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7364 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sptlc1 34 33 |
|
OneToOne | |
| -- 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9491 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Spt-I 34 35 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010427 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | sptl-1 34 33 |
|
OneToOne | |
| C23H3.4 35 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | LCB1 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09955g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR145C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | LCB1 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os02g0806900 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPBC18E5.02c 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU06870 33 |
|
- Species where no ortholog for SPTLC1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for SPTLC1 Gene
- ENSEMBL:
- Gene Tree for SPTLC1 (if available)
- TreeFam:
- Gene Tree for SPTLC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SPTLC1: view image
Paralogs for SPTLC1 Gene
Pseudogenes.org Pseudogenes for SPTLC1 Gene
No data available for Paralogs for SPTLC1 Gene
Variants for SPTLC1 Gene
| SNP ID | Clin | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057515685 | uncertain-significance, Neuropathy hereditary sensory and autonomic type 1 | 92,031,372(-) | C/T | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1057515686 | uncertain-significance, Neuropathy hereditary sensory and autonomic type 1 | 92,031,834(-) | C/G | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1057515687 | uncertain-significance, Neuropathy hereditary sensory and autonomic type 1 | 92,031,860(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs1057515689 | uncertain-significance, Neuropathy hereditary sensory and autonomic type 1 | 92,032,265(-) | C/A | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant | |
| rs112076327 | likely-benign, Neuropathy hereditary sensory and autonomic type 1 | 92,031,295(-) | A/G | 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant |
Residual Variation Intolerance Score:
20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.92;
48.92% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SPTLC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPTLC1 Gene
Disorders for SPTLC1 Gene
(23) MalaCards diseases for SPTLC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| neuropathy, hereditary sensory and autonomic, type ia |
|
|
| hereditary sensory and autonomic neuropathy type 1 |
|
|
| neuropathy, hereditary sensory, type ie |
|
|
| hereditary sensory neuropathy |
|
|
| sensory neuropathy type 1 |
|
|
Search SPTLC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SPTC1_HUMAN- Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400]: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. {ECO:0000269 PubMed:11242114, ECO:0000269 PubMed:19132419, ECO:0000269 PubMed:19651702, ECO:0000269 PubMed:20504773, ECO:0000269 PubMed:21618344, ECO:0000269 PubMed:22302274, ECO:0000269 PubMed:24247255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=SPTLC1 mutations at Ser-331 are responsible for severe hereditary motor and sensory neuropathy (HMSN) forms, whose core features are severe, diffuse muscle wasting and hypotonia, motor and sensory disturbances, foot ulcers, amputations and/or burns, joint hypermobility, cataracts and considerable growth retardation. {ECO:0000269 PubMed:23454272}.
Additional Disease Information for SPTLC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SPTLC1 Gene
Publications for SPTLC1 Gene
- Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. (PMID: 19651702) Rotthier A … Timmerman V (Brain : a journal of neurology 2009) 3 4 22 44 58
- Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PMID: 9363775) Weiss B … Stoffel W (European journal of biochemistry 1997) 2 3 4 22 58
- SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. (PMID: 15037712) Verhoeven K … De Jonghe P (Neurology 2004) 3 4 22 58
- Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. (PMID: 11242114) Dawkins JL … Nicholson GA (Nature genetics 2001) 3 4 22 58
- Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. (PMID: 24247255) Suh BC … Choi BO (Molecular medicine reports 2014) 3 4 58
Products for SPTLC1 Gene
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- Custom Antibody ServicesOriGene Antibodies for SPTLC1
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- Taconic Biosciences Mouse Models for SPTLC1
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- Humanized Mice
- Invitrogen Antibodies for SPTLC1 (AFLGC-SPTLC1)
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- antibodies-online: Search results for 108 available SPTLC1 Antibodies ranked by validation data
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- antibodies-online: Search results for 4 available SPTLC1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 10 available SPTLC1 Proteins ranked by validation data
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- GeneTex SPTLC1 Antibody for SPTLC1
- Search GeneTex for Proteins for SPTLC1
- Santa Cruz Biotechnology (SCBT) Antibodies for SPTLC1
- Search Santa Cruz Biotechnology (SCBT) for SPTLC1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SPTLC1
- Custom Antibody ServicesProSci Antibodies for SPTLC1
- Search for SPTLC1 Proteins at ProSci
- Horizon Cell Lines for SPTLC1
- genomics-online: cdna clones - Search results for available SPTLC1 gene related products
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- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SPTLC1
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- GeneCopoeia miRNA 3'UTR Target clone products for SPTLC1
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Sources for SPTLC1 Gene
- (1) GeneCards
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- (68) Cloud-Clone Corp.
- (69) OCA
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- (72) neXtProt
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