Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPTLC1 Gene

protein-coding   GIFtS: 66
GCID: GC09M094793

Serine Palmitoyltransferase, Long Chain Base Subunit 1

(Previous names: hereditary sensory neuropathy, type 1)
(Previous symbol: HSN1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Serine Palmitoyltransferase, Long Chain Base Subunit 11 2     EC 2.3.1.503 8
HSN11 2 5     LBC12 5
SPT12 3 5     Hereditary Sensory Neuropathy, Type 11
Long Chain Base Biosynthesis Protein 12 3     HSAN12
Serine-Palmitoyl-CoA Transferase 12 3     SPTI2
LCB12 3     Serine C-Palmitoyltransferase2
LCB 12 3     Serine Palmitoyltransferase 12
SPT 12 3     HSAN5

External Ids:    HGNC: 112771   Entrez Gene: 105582   Ensembl: ENSG000000900547   OMIM: 6057125   UniProtKB: O152693   

Export aliases for SPTLC1 gene to outside databases

Previous GC identifers: GC09M085621 GC09M086522 GC09M088092 GC09M090134 GC09M091873 GC09M093833 GC09M064471


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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 hereditary sensory neuropathy, and sensory neuropathy type 1, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include pyridoxal phosphate binding and serine C-palmitoyltransferase activity.

UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
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

Gene Wiki entry for SPTLC1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPTLC1 gene promoter:
         Max1   AML1a   HSF1 (long)   E47   MEF-2A   COMP1   HSF1short   aMEF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTLC1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPTLC1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q22.2   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22.31

SPTLC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTLC1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M094793:  view genomic region     (about GC identifiers)

Start:
94,793,427 bp from pter      End:
94,877,690 bp from pter
Size:
84,264 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269 (See protein sequence)
Recommended Name: Serine palmitoyltransferase 1  
Size: 473 amino acids; 52744 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: 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
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Caution: Variant Ala-387 has been originally thought to cause HSAN1A (PubMed:15037712). Subsequently, it has been
shown to be a rare, benign polymorphism found in homozygous state in a healthy individual (PubMed:19132419)
Secondary accessions: A8K681 Q5VWB4 Q96IX6
Alternative splicing: 2 isoforms:  O15269-1   O15269-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPTLC1: NX_O15269

Explore proteomics data for SPTLC1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15269

  • 4/13 DME Specific Peptides for SPTLC1 (O15269) (see all 13)
     DVHLDLE  NFASFNFL  NPRVKAAA  CGPRGFYGT 

    SPTLC1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTLC1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001268232.1  NP_006406.1  NP_847894.1  

    ENSEMBL proteins: 
     ENSP00000262554   ENSP00000337635  
    Reactome Protein details: O15269
    Human Recombinant Protein Products for SPTLC1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for SPTLC1
    OriGene Protein Over-expression Lysate for SPTLC1
    OriGene MassSpec for SPTLC1 
    OriGene Custom Protein Services for SPTLC1
    GenScript Custom Purified and Recombinant Proteins Services for SPTLC1
    Novus Biologicals SPTLC1 Protein
    Novus Biologicals SPTLC1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPTLC1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0017059serine C-palmitoyltransferase complex IDA19416851
    GO:0035339SPOTS complex IDA--

    SPTLC1 for ontologies           About GeneDecksing



    SPTLC1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SPTLC1
    GenScript Custom Superior Antibodies Services for SPTLC1
    Novus Biologicals SPTLC1 Antibodies
    Abcam antibodies for SPTLC1
    Cloud-Clone Corp. Antibodies for SPTLC1 
    ThermoFisher Antibodies for SPTLC1
    LSBio Antibodies in human, mouse, rat for SPTLC1 

    Assay Products for SPTLC1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPTLC1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPTLC1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPTLC1 
    Cloud-Clone Corp. CLIAs for SPTLC1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry O15269

    ProtoNet protein and cluster: O15269

    2 Blocks protein domains:
    IPB001917 Aminotransferase
    IPB004839 Aminotransferase


    UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family


    SPTLC1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPTC1_HUMAN, O15269
    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
    Catalytic activity: Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2)
    Biophysicochemical properties: Kinetic parameters: KM=0.75 mM for serine; Vmax=1350 pmol/min/mg enzyme;

         Enzyme Number (IUBMB): EC 2.3.1.501 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004758serine C-palmitoyltransferase activity IDA19416851
    GO:0005515protein binding IPI19416851
    GO:0030170pyridoxal phosphate binding IEA--
         
    SPTLC1 for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sptlc1):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  reproductive system 

    SPTLC1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sptlc1tm1Jia for SPTLC1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTLC1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTLC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTLC1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTLC1 

    miRNA
    Products:
        
    miRTarBase miRNAs that target SPTLC1:
    hsa-mir-16 (MIRT001411)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTLC1
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTLC1 (see all 21):
    hsa-miR-1178 hsa-miR-16-2* hsa-miR-137 hsa-miR-15a hsa-miR-944 hsa-miR-374a hsa-miR-424 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSPTLC1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SPTLC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTLC1
    Sirion Biotech Customized adenovirus for overexpression of SPTLC1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SPTLC1 (see all 12)
    OriGene ORF clones in mouse, rat for SPTLC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPTLC1 (NM_006415)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1
    Sirion Biotech Customized lentivirus for stable overexpression of SPTLC1 
                         Customized lentivirus expression plasmids for stable overexpression of SPTLC1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPTLC1
    Search LifeMap BioReagents cell lines for SPTLC1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SPTLC1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Sphingolipid de novo biosynthesis0.47
    Sphingolipid metabolism0.63
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3ceramide de novo biosynthesis
    ceramide de novo biosynthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for SPTLC1
        Sphingolipid Metabolism
    ceramide de novo biosynthesis

    4        Reactome Pathways for SPTLC1
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


    2         Kegg Pathways  (Kegg details for SPTLC1):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
    Pathway: Lipid metabolism; sphingolipid metabolism


    SPTLC1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTLC1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/104 Interacting proteins for SPTLC1 (O152693 ENSP000002625544) via UniProtKB, MINT, STRING, and/or I2D (see all 104)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGPAT1Q999433I2D: score=1 
    ENSG00000206324Q999433I2D: score=1 
    ENSG00000226467Q999433I2D: score=1 
    ENSG00000227642Q999433I2D: score=1 
    ENSG00000228892Q999433I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006686sphingomyelin biosynthetic process IEA--
    GO:0009058biosynthetic process ----
    GO:0030148sphingolipid biosynthetic process TAS19416851
    GO:0044281small molecule metabolic process TAS--

    SPTLC1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SPTLC1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPTLC1 (SPTC1)

    8 HMDB Compounds for SPTLC1    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    Alpha-TocopherolVitamin Ea (see all 22)59-02-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    L-Serine(-)-Serine (see all 26)56-45-1--
    Palmityl-CoAPalmityl-CoA (see all 13)1763-10-6--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Squalene(E,E,E,E)-Squalene (see all 10)111-02-4--

    2 DrugBank Compounds for SPTLC1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12782147 11781309 11279212
    L-Serine(-)-Serine (see all 11)56-45-1target--17559874

    3 Novoseek inferred chemical compound relationships for SPTLC1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 72.4 19 11781309 (3), 11242114 (2), 16311270 (1), 18515784 (1) (see all 13)
    ceramide 63.6 5 18515784 (1), 19592499 (1), 20208441 (1)
    cholesterol 2 4 18484747 (2), 9761725 (1)

    Search CenterWatch for drugs/clinical trials and news about SPTLC1 / SPTC1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPTLC1 gene (3 alternative transcripts): 
    NM_001281303.1  NM_006415.3  NM_178324.2  

    Unigene Cluster for SPTLC1:

    Serine palmitoyltransferase, long chain base subunit 1
    Hs.90458  [show with all ESTs]
    Unigene Representative Sequence: AB209757
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262554(uc011ltv.1 uc004arl.1 uc004arm.1) ENST00000469778
    ENST00000482632 ENST00000337841(uc004arn.1) ENST00000477888 ENST00000488921
    ENST00000461132

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTLC1
    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTLC1 (see all 21):
    hsa-miR-1178 hsa-miR-16-2* hsa-miR-137 hsa-miR-15a hsa-miR-944 hsa-miR-374a hsa-miR-424 hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidSPTLC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SPTLC1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC1
    Clone
    Products:
         
    OriGene clones in human, mouse for SPTLC1 (see all 12)
    OriGene ORF clones in mouse, rat for SPTLC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SPTLC1 (NM_006415)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1
    Sirion Biotech Customized lentivirus for stable overexpression of SPTLC1 
                         Customized lentivirus expression plasmids for stable overexpression of SPTLC1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPTLC1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTLC1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC1

    Additional mRNA sequence: 

    AB209757.1 AF116613.1 AF147304.1 AK098344.1 AK291546.1 AK299153.1 AK309775.1 BC007085.1 
    BC068537.1 Y08685.1 

    22 DOTS entries:

    DT.444903  DT.92458220  DT.102820  DT.95312939  DT.100681874  DT.121208736  DT.91724848  DT.95225508 
    DT.95312943  DT.100743822  DT.121208704  DT.92458222  DT.97816127  DT.100813818  DT.121208779  DT.92023316 
    DT.99981543  DT.121208741  DT.91871110  DT.92004418  DT.92458221  DT.97801742 

    24/300 AceView cDNA sequences (see all 300):

    AI247291 CD622626 AU141494 CA748762 AW072973 BI258416 NM_178324 BC068537 
    AW074186 BU579723 AW119058 AL553355 AI269066 AW272690 AA902722 AK098344 
    BQ022431 T39723 AA424050 AA346625 NM_006415 BM667230 AF116613 AL559664 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPTLC1 expression in normal human tissues (normalized intensities)      SPTLC1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGGATGC
    SPTLC1 Expression
    About this image


    SPTLC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Testis (Reproductive System)
             sperm   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Amnion (Extraembryonic Tissues)
             amniotic fluid   
     
     Spleen (Hematopoietic System)

    See SPTLC1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTLC1

    SOURCE GeneReport for Unigene cluster: Hs.90458

    UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
    Tissue specificity: Widely expressed. Not detected in small intestine

        SABiosciences Custom PCR Arrays for SPTLC1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPTLC1
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTLC1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPTLC1 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptlc11 , 5 serine palmitoyltransferase, long chain base subunit more1, 5 84.57(n)1
    91.75(a)1
      13 (27.68 cM)5
    2686561  NM_009269.21  NP_033295.21 
     533327485 
    chicken
    (Gallus gallus)
    Aves SPTLC11 serine palmitoyltransferase, long chain base subunit more 80.01(n)
    87.79(a)
      426145  XM_423815.3  XP_423815.3 
    lizard
    (Anolis carolinensis)
    Reptilia SPTLC16
    Uncharacterized protein
    88(a)
    1 ↔ 1
    2(31523293-31555342)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.73642 Xenopus laevis transcribed sequence with moderate similarity more 78.21(n)    BU911419.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA474602.12   -- 72.87(n)   386944  CA474602.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spt-I1 , 3 serine C-palmitoyltransferase3
    Serine palmitoyltransferase subunit I1
    52(a)3
    53.51(n)1
    51.22(a)1
      49F43
    364481  NM_136998.21  NP_610842.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C23H3.43
    sptl-11
    aminotransferase3
    Protein SPTL-11
    49(a)3
    55.81(n)1
    50.9(a)1
      II(51538-52611)3
    1733891  NM_001026807.11  NP_001021978.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB1(YMR296C)4
    LCB11
    Component of serine palmitoyltransferase, responsible more4
    Lcb1p1
    46.11(n)1
    36.78(a)1
      13(860891-859215)4
    8553421, 4  NP_014025.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons LCB11 serine palmitoyltransferase 52.49(n)
    45.02(a)
      829800  NM_001036719.1  NP_001031796.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g08069001 hypothetical protein 53.5(n)
    47.63(a)
      4331075  NM_001054986.1  NP_001048451.2 


    ENSEMBL Gene Tree for SPTLC1 (if available)
    TreeFam Gene Tree for SPTLC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPTLC1 gene

    SPTLC1 for paralogs           About GeneDecksing


    5/10 Pseudogenes.org Pseudogenes for SPTLC1 (see all 10)
    PGOHUM00000238713 PGOHUM00000248637 PGOHUM00000249153 PGOHUM00000245003 PGOHUM00000240671


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1815 SNPs in SPTLC1 are shown (see all 1815)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0113944
    Hereditary sensory and autonomic neuropathy 1A (HSAN1A)4--see VAR_0113942 V D mis40--------
    VAR_0662454
    Hereditary sensory and autonomic neuropathy 1A (HSAN1A)4--see VAR_0662452 S F mis40--------
    VAR_0662464
    Hereditary sensory and autonomic neuropathy 1A (HSAN1A)4--see VAR_0662462 A V mis40--------
    VAR_0113934
    Hereditary sensory and autonomic neuropathy 1A (HSAN1A)4--see VAR_0113932 C Y mis40--------
    VAR_0113924
    Hereditary sensory and autonomic neuropathy 1A (HSAN1A)4--see VAR_0113922 C W mis40--------
    VAR_0366104
    A breast cancer sample4--see VAR_0366102 R W mis40--------
    rs1194820841,2,4
    Cpathogenic194818681(-) GGTGGG/CGGAGT 2 /A /G mis11Minor allele frequency- C:0.00NA 4552
    rs1194820831,2
    Cpathogenic194848434(-) AGATGA/TTCATT 2 D V mis10--------
    rs1194820821,2
    Cpathogenic194860385(-) ACTTGG/TGGACC 4 W C mis10--------
    rs1194820811,2
    Cpathogenic194860386(-) GACTTA/GTGGAC 4 Y C mis10--------

    HapMap Linkage Disequilibrium report for SPTLC1 (94793427 - 94877690 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPTLC1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831653CNV Gain17160897


    Human Gene Mutation Database (HGMD): SPTLC1

    Locus Specific Mutation Databases (LSDB): SPTLC1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTLC1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTLC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605712   
    OMIM disorders: 162400  
    UniProtKB/Swiss-Prot: SPTC1_HUMAN, O15269
  • Hereditary sensory and autonomic neuropathy 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for SPTLC1:    About MalaCards
    hereditary sensory neuropathy    sensory neuropathy type 1    hereditary sensory neuropathy type ia    neuropathy hereditary sensory and autonomic type 1
    tabes dorsalis    neuropathy    lumbosacral lipoma    aortic valve insufficiency
    alcoholic neuropathy    hypohidrosis    autonomic neuropathy    lipoma
    axonal neuropathy    tooth disease    charcot-marie-tooth disease    peripheral neuropathy
    alcoholism    tuberculosis    hypoxia

    3 diseases from the University of Copenhagen DISEASES database for SPTLC1:
    Peripheral neuropathy     Tabes dorsalis     Alcoholic neuropathy

    SPTLC1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred disease relationships for SPTLC1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neuropathy, hereditary sensory, type i 97.5 9 16364956 (3), 18018475 (2), 11242114 (1), 15037712 (1) (see all 5)
    sensory neuropathy hereditary 92.6 1 16311270 (1)
    sensory neuropathy 69.6 1 16364956 (1)
    charcot-marie-tooth disease 66.3 2 16364956 (1)
    neurodegeneration 34.7 2 15467453 (1)

    GeneTests: SPTLC1
    GeneReviews: SPTLC1
    Genetic Association Database (GAD): SPTLC1
    Human Genome Epidemiology (HuGE) Navigator: SPTLC1 (2 documents)

    Export disorders for SPTLC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPTLC1 gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with SPTLC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and murine serine-palmitoyl-CoA transferase. Cloning, expression and characterization of the key enzyme in sphingolipid synthesis. (PubMed id 9363775)1, 2, 3, 9 Weiss B. and Stoffel W. (1997)
    2. Genes for hereditary sensory and autonomic neuropathi es: a genotype-phenotype correlation. (PubMed id 19651702)1, 2, 4, 9 Rotthier A....Timmerman V. (2009)
    3. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. (PubMed id 15037712)1, 2, 9 Verhoeven K.... De Jonghe P. (2004)
    4. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. (PubMed id 11242114)1, 2, 9 Dawkins J.L....Nicholson G.A. (2001)
    5. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. (PubMed id 22302274)1, 2 Davidson G.L.... Reilly M.M. (2012)
    6. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. (PubMed id 21618344)1, 2 Rotthier A.... Janssens K. (2011)
    7. Orm family proteins mediate sphingolipid homeostasis. (PubMed id 20182505)1, 2 Breslow D.K....Weissman J.S. (2010)
    8. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    9. A systematic comparison of all mutations in hereditar y sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not dis ease associated. (PubMed id 19132419)1, 2 Hornemann T....von Eckardstein A. (2009)
    10. Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. (PubMed id 19416851)1, 2 Han G.... Dunn T.M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10558 HGNC: 11277 AceView: SPTLC1 Ensembl:ENSG00000090054 euGenes: HUgn10558
    ECgene: SPTLC1 Kegg: 10558 H-InvDB: SPTLC1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPTLC1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPTLC1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPTLC1 gene:
    Search GeneIP for patents involving SPTLC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SPTLC1  
     OriGene qPCR primer pairs and template standards for SPTLC1   OriGene Protein Over-expression Lysate for SPTLC1  
     OriGene MassSpec something-or-other for SPTLC1   OriGene clones in human, mouse for SPTLC1  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC1   OriGene Purified Protein for SPTLC1  
     OriGene ORF clones in mouse, rat for SPTLC1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPTLC1   OriGene Custom Protein Services for SPTLC1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTLC1
     QIAGEN SeqTarget long-range PCR primers for resequencing SPTLC1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC1
     GenScript Custom Purified and Recombinant Proteins Services for SPTLC1 GenScript cDNA clones with any tag delivered in your preferred vector for SPTLC1
     GenScript Custom Assay Services for SPTLC1 GenScript Custom Superior Antibodies Services for SPTLC1
     GenScript Custom overexpressing Cell Line Services for SPTLC1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SPTLC1 promoter
     Search Chromatin IP Primers for SPTLC1
     RT2 qPCR Primer Assay in human, mouse, rat SPTLC1
     GNC Network for SPTLC1
     SABiosciences Custom PCR Arrays for SPTLC1
     Search Tocris compounds for SPTLC1 (SPTC1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SPTLC1 antibodies
     SPTLC1 proteins
     SPTLC1 lysates
     Antibodies for SPTLC1
     See all of Abcam's Antibodies, Kits and Proteins for SPTLC1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SPTLC1
     Antibodies for SPTLC1
     ELISAs for SPTLC1
     CLIAs for SPTLC1
     Search LifeMap BioReagents cell lines for SPTLC1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC1
     SwitchGear 3'UTR luciferase reporter plasmids for SPTLC1
     SwitchGear Promoter luciferase reporter plasmids for SPTLC1
     ThermoFisher Antibodies for SPTLC1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTLC1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTLC1
    Customized:
     lentivirus for stable overexpression of SPTLC1
     lentivirus expression plasmids for stable overexpression of SPTLC1
     adenovirus for overexpression of SPTLC1
     LSBio Antibodies in human, mouse, rat for SPTLC1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SPTLC1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4