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

SPTLC3 Gene

protein-coding   GIFtS: 53
GCID: GC20P012938

Serine Palmitoyltransferase, Long Chain Base Subunit 3

(Previous names: chromosome 20 open reading frame 38, serine palmitoyltransferase,...)
(Previous symbols: C20orf38, SPTLC2L)
  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 31 2     Chromosome 20 Open Reading Frame 381
SPTLC2L1 2 3 5     LCB2B2
C20orf381 2 3     LCB32
Serine Palmitoyltransferase, Long Chain Base Subunit 2-Like
(Aminotransferase 2)1 2
     SPT32
Long Chain Base Biosynthesis Protein 2b2 3     dJ718P112
Long Chain Base Biosynthesis Protein 32 3     dJ718P11.12
Serine-Palmitoyl-CoA Transferase 32 3     hLCB2b2
LCB 32 3     Serine Palmitoyltransferase 32
SPT 32 3     LCB2b3
EC 2.3.1.503 8     EC 2.3.18

External Ids:    HGNC: 162531   Entrez Gene: 553042   Ensembl: ENSG000001722967   OMIM: 6111205   UniProtKB: Q9NUV73   

Export aliases for SPTLC3 gene to outside databases


(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 SPTLC3 Gene:
The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which
catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 (PubMed
17023427)). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713)
or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006
(PubMed 17023427)). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB
(MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity
(Han et al., 2009 (PubMed 19416851)).(supplied by OMIM, Nov 2010)

GeneCards Summary for SPTLC3 Gene: 
SPTLC3 (serine palmitoyltransferase, long chain base subunit 3) is a protein-coding gene. Diseases associated with SPTLC3 include hereditary sensory neuropathy, and autonomic neuropathy, 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. An important paralog of this gene is SPTLC2.

UniProtKB/Swiss-Prot: SPTC3_HUMAN, Q9NUV7
Function: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic
core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The
SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the
ability to use a broader range of acyl-CoAs without apparent preference




(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_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPTLC3 gene promoter:
         TBP   AML1a   Pax-6   Nkx2-2   Lmo2   C/EBPalpha   AREB6   SRY   TFIID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTLC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPTLC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC3


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

Entrez Gene cytogenetic band: 20p12.1   Ensembl cytogenetic band:  20p12.1   HGNC cytogenetic band: 20p12.1

SPTLC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTLC3 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P012938:  view genomic region     (about GC identifiers)

Start:
12,989,627 bp from pter      End:
13,147,411 bp from pter
Size:
157,785 bases      Orientation:
plus 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: SPTC3_HUMAN, Q9NUV7 (See protein sequence)
Recommended Name: Serine palmitoyltransferase 3  
Size: 552 amino acids; 62049 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: Heterodimer with SPTLC1. Component of the serine palmitoyltransferase (SPT) complex, composed of
LCB1/SPTLC1, LCB2 (SPTLC2 or SPTLC3) and ssPT (SPTSSA and SPTSSB)
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein (By similarity)
Sequence caution: Sequence=AAH05205.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: A2A2I4 B9EK64 Q05DQ8 Q5T1U4 Q9H1L1 Q9H1Z0
Alternative splicing: 2 isoforms:  Q9NUV7-1   Q9NUV7-2   (Variant in position: 149:P->A (in dbSNP:rs934335))

Explore the universe of human proteins at neXtProt for SPTLC3: NX_Q9NUV7

Explore proteomics data for SPTLC3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUV7

  • 4/13 DME Specific Peptides for SPTLC3 (Q9NUV7) (see all 13)
     LYIDEAH  VINMGSYN  LFGYLRDF  YSMEGSIV 

    SPTLC3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTLC3 Protein Expression
    REFSEQ proteins: NP_060797.2  
    ENSEMBL proteins: 
     ENSP00000389749   ENSP00000381968   ENSP00000409125   ENSP00000409760   ENSP00000367436  
    Reactome Protein details: Q9NUV7
    Human Recombinant Protein Products for SPTLC3: 
    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
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for SPTLC3
    GenScript Custom Purified and Recombinant Proteins Services for SPTLC3
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPTLC3 

    Gene Ontology (GO): 3 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 IDA17331073

    SPTLC3 for ontologies           About GeneDecksing



    SPTLC3 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 SPTLC3
    GenScript Custom Superior Antibodies Services for SPTLC3
    Search for Antibodies for SPTLC3 at Abcam
    Cloud-Clone Corp. Antibodies for SPTLC3 
    Search ThermoFisher Antibodies for SPTLC3
    Search LSBio for Antibodies for SPTLC3 

    Assay Products for SPTLC3: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPTLC3
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPTLC3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPTLC3 
    Cloud-Clone Corp. CLIAs for SPTLC3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR004839 Aminotransferase_I/II
     IPR015424 PyrdxlP-dep_Trfase
     IPR001917 Aminotrans_II_pyridoxalP_BS
     IPR015421 PyrdxlP-dep_Trfase_major_sub1
     IPR015422 PyrdxlP-dep_Trfase_major_sub2

    Graphical View of Domain Structure for InterPro Entry Q9NUV7

    ProtoNet protein and cluster: Q9NUV7

    UniProtKB/Swiss-Prot: SPTC3_HUMAN, Q9NUV7
    Similarity: Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family


    SPTLC3 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: SPTC3_HUMAN, Q9NUV7
    Function: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic
    core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The
    SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, while the SPTLC1-SPTLC3-SPTSSB has the
    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)

         Enzyme Numbers (IUBMB): EC 2.3.1.501 2 EC 2.3.12

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004758serine C-palmitoyltransferase activity IDA19416851
    GO:0008483transaminase activity ----
    GO:0016829lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    SPTLC3 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTLC3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTLC3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPTLC3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPTLC3 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTLC3
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTLC3 (see all 26):
    hsa-miR-124* hsa-miR-579 hsa-miR-3673 hsa-miR-148b hsa-miR-3616-5p hsa-miR-1285 hsa-miR-197 hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidSPTLC3 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SPTLC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPTLC3
    Sirion Biotech Customized adenovirus for overexpression of SPTLC3

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SPTLC3 (see all 9)
    OriGene ORF clones in mouse, rat for SPTLC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTLC3 (NM_018327)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC3
    Sirion Biotech Customized lentivirus for stable overexpression of SPTLC3 
                         Customized lentivirus expression plasmids for stable overexpression of SPTLC3 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPTLC3
    Search LifeMap BioReagents cell lines for SPTLC3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC3


    (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 SPTLC3 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SPTLC3
        Sphingolipid Metabolism

    4        Reactome Pathways for SPTLC3
        Sphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins
    Sphingolipid de novo biosynthesis


    2         Kegg Pathways  (Kegg details for SPTLC3):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: SPTC3_HUMAN, Q9NUV7
    Pathway: Lipid metabolism; sphingolipid metabolism


    SPTLC3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPTLC3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/19 Interacting proteins for SPTLC3 (ENSP000003819684) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KDSRENSP000003850834STRING: ENSP00000385083
    SPTLC2ENSP000002164844STRING: ENSP00000216484
    SPTSSAENSP000002981304STRING: ENSP00000298130
    SPTSSBENSP000003520974STRING: ENSP00000352097
    AGXTENSP000003026204STRING: ENSP00000302620
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0009058biosynthetic process ----
    GO:0030148sphingolipid biosynthetic process TAS19416851
    GO:0044281small molecule metabolic process TAS--

    SPTLC3 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPTLC3 (SPTC3)

    2 HMDB Compounds for SPTLC3    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Serine(-)-Serine (see all 26)56-45-1--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    1 DrugBank Compound for SPTLC3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about SPTLC3 / SPTC3

    (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 SPTLC3 gene: 
    NM_018327.2  

    Unigene Cluster for SPTLC3:

    Serine palmitoyltransferase, long chain base subunit 3
    Hs.425023  [show with all ESTs]
    Unigene Representative Sequence: NM_018327
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476791(uc002woc.3) ENST00000434210 ENST00000399002(uc002wod.1)
    ENST00000450297 ENST00000431275 ENST00000485952 ENST00000378194
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SPTLC3
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTLC3 (see all 26):
    hsa-miR-124* hsa-miR-579 hsa-miR-3673 hsa-miR-148b hsa-miR-3616-5p hsa-miR-1285 hsa-miR-197 hsa-miR-511
    SwitchGear 3'UTR luciferase reporter plasmidSPTLC3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SPTLC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC3
    Clone
    Products:
         
    OriGene clones in human, mouse for SPTLC3 (see all 9)
    OriGene ORF clones in mouse, rat for SPTLC3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SPTLC3 (NM_018327)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPTLC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC3
    Sirion Biotech Customized lentivirus for stable overexpression of SPTLC3 
                         Customized lentivirus expression plasmids for stable overexpression of SPTLC3 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTLC3
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC3

    Additional mRNA sequence: 

    AK001974.1 AK075271.1 AK300184.1 BC005205.1 BC020656.1 BC038248.1 BC150644.1 

    6 DOTS entries:

    DT.97809926  DT.440198  DT.97801764  DT.99959177  DT.95150052  DT.99959144 

    24/36 AceView cDNA sequences (see all 36):

    BM785033 BQ012499 BU623697 CR600600 NM_018327 BC020656 BF062908 AA192413 
    AU138164 CD101710 BX399104 BC005205 AU137169 BX283823 CF994475 AL037465 
    CF994231 AK001974 AI149272 BE866600 AI061436 AL844430 BX327973 CB989449 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for SPTLC3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
    SP1:                    -         
    SP2:                    -         
    SP3:                              


    ECgene alternative splicing isoforms for SPTLC3

    (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

    SPTLC3 expression in normal human tissues (normalized intensities)      SPTLC3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATGTTTACA
    SPTLC3 Expression
    About this image


    SPTLC3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             TGFbeta3+BMP7-induced chondrocytes
             Human Annulus Fibrosus Cells (HAFC)   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Tooth
             visceral organ/oral region/lower jaw   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See SPTLC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTLC3

    SOURCE GeneReport for Unigene cluster: Hs.425023

    UniProtKB/Swiss-Prot: SPTC3_HUMAN, Q9NUV7
    Tissue specificity: Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels
    in heart, kidney, liver, uterus and skin

        SABiosciences Custom PCR Arrays for SPTLC3
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC3
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SPTLC3
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC3
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC3

    (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 animals and fungi.

    Orthologs for SPTLC3 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptlc31 , 5 serine palmitoyltransferase, long chain base subunit more1, 5 76.53(n)1
    70.42(a)1
      2 (68.52 cM)5
    2286771  NM_175467.31  NP_780676.11 
     1394939135 
    chicken
    (Gallus gallus)
    Aves SPTLC31 serine palmitoyltransferase, long chain base subunit more 74.93(n)
    78.37(a)
      768538  XM_001231525.1  XP_001231526.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    82(a)
    69(a)
    many → 1
    many → 1
    1(128963336-129011098)
    1(128950925-128956490)
    zebrafish
    (Danio rerio)
    Actinopterygii sptlc31 serine palmitoyltransferase, long chain base subunit more 67.47(n)
    72.17(a)
      445168  NM_001003562.1  NP_001003562.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lace6
    lace
    44(a)
    1 → many
    2L(15499110-15505018)
    worm
    (Caenorhabditis elegans)
    Secernentea sptl-26
    sptl-36
    Protein SPTL-3, isoform a
    44(a)
    42(a)
    many ↔ many
    many ↔ many
    V(8017947-8021717)
    V(13893325-13896417)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB26
    Component of serine palmitoyltransferase, responsi...
    40(a)
    1 → many
    IV(576474-578159)


    ENSEMBL Gene Tree for SPTLC3 (if available)
    TreeFam Gene Tree for SPTLC3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPTLC3 gene
    SPTLC22  
    2 SIMAP similar genes for SPTLC3 using alignment to 5 protein entries:     SPTC3_HUMAN (see all proteins):
    SPTLC2    GCAT

    SPTLC3 for paralogs           About GeneDecksing



    (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

    10/3662 SNPs in SPTLC3 are shown (see all 3662)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs3605361,2
    C,F,A,H--12987644(-) TTGAAG/ATCAGT 1 -- us2k111Minor allele frequency- A:0.25NA EA WA 732
    rs778175481,2
    F--12987716(+) CATACC/AAGCAG 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1378918211,2
    --12987786(+) TTCCAA/GTACGG 1 -- us2k10--------
    rs38933921,2
    C,F,A,H--12987789(-) TTACCG/ATATTG 1 -- us2k139Minor allele frequency- A:0.29NS EA NA CSA WA 3702
    rs126259661,2
    C,H--12987868(+) CTAACC/TTTAGC 1 -- us2k14Minor allele frequency- T:0.00NS EA 418
    rs38891561,2
    C,F,A,H--12987877(-) ATTGCA/GATTGC 1 -- us2k118Minor allele frequency- G:0.31NA EA CSA WA 877
    rs1863054951,2
    C--12987883(+) GCAATC/TAGGGG 1 -- us2k10--------
    rs1848561,2
    C,F,O,A,H--12987940(-) AGGTAT/CATATA 1 -- us2k111Minor allele frequency- C:0.27NA WA EA 510
    rs97898271,2
    C--12987983(+) aagaaA/Gaaaaa 1 -- us2k1 trp30--------
    rs1917007581,2
    --12988047(+) AGATGA/GAGAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SPTLC3 (12989627 - 13147411 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SPTLC3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722196CNV Deletion23290073
    esv2017186CNV Deletion18987734
    esv2722198CNV Deletion23290073
    esv2722197CNV Deletion23290073
    nsv912684CNV Loss21882294
    nsv833924CNV Gain17160897
    nsv912685CNV Gain21882294
    nsv518184CNV Gain19592680
    nsv833923CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTLC3
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTLC3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611120    OMIM disorders: --

    4 diseases for SPTLC3:    About MalaCards
    hereditary sensory neuropathy    autonomic neuropathy    neuropathy    tuberculosis


    SPTLC3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SPTLC3
    Human Genome Epidemiology (HuGE) Navigator: SPTLC3 (7 documents)

    Export disorders for SPTLC3 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 SPTLC3 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with SPTLC3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and initial characterization of a new subunit for mammalian serine-palmitoyltransferase. (PubMed id 17023427)1, 2, 3 Hornemann T.... von Eckardstein A. (2006)
    2. Genome-wide association study of personality traits i n bipolar patients. (PubMed id 21368711)1, 4 Alliey-Rodriguez N....Gershon E.S. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. A genome-wide perspective of genetic variation in hum an metabolism. (PubMed id 20037589)1, 4 Illig T....Suhre K. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Genetic determinants of circulating sphingolipid conc entrations in European populations. (PubMed id 19798445)1, 4 Hicks A.A....Campbell H. (2009)
    7. 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)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 55304 HGNC: 16253 AceView: C20orf38 Ensembl:ENSG00000172296 euGenes: HUgn55304
    ECgene: SPTLC3 Kegg: 55304 H-InvDB: SPTLC3

    (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 SPTLC3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPTLC3 gene:
    Search GeneIP for patents involving SPTLC3

    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 SPTLC3  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for SPTLC3  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPTLC3   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for SPTLC3   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPTLC3   OriGene Custom Protein Services for SPTLC3  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SPTLC3
     QIAGEN SeqTarget long-range PCR primers for resequencing SPTLC3
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTLC3
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SPTLC3
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTLC3
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTLC3
     GenScript Custom Purified and Recombinant Proteins Services for SPTLC3 GenScript cDNA clones with any tag delivered in your preferred vector for SPTLC3
     GenScript Custom Assay Services for SPTLC3 GenScript Custom Superior Antibodies Services for SPTLC3
     GenScript Custom overexpressing Cell Line Services for SPTLC3 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 SPTLC3 promoter
     Search Chromatin IP Primers for SPTLC3
     RT2 qPCR Primer Assay in human, mouse, rat SPTLC3
     Search GNC Networks for SPTLC3
     SABiosciences Custom PCR Arrays for SPTLC3
     Search Tocris compounds for SPTLC3 (SPTC3)
     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 Biologicals
     Novus Tissue Slides
     Search for Antibodies for SPTLC3 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SPTLC3
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for SPTLC3
     Antibodies for SPTLC3
     ELISAs for SPTLC3
     CLIAs for SPTLC3
     Search LifeMap BioReagents cell lines for SPTLC3
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTLC3
     SwitchGear 3'UTR luciferase reporter plasmids for SPTLC3
     SwitchGear Promoter luciferase reporter plasmids for SPTLC3
     Search ThermoFisher Antibodies for SPTLC3
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTLC3
     inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTLC3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTLC3
    Customized:
     lentivirus for stable overexpression of SPTLC3
     lentivirus expression plasmids for stable overexpression of SPTLC3
     adenovirus for overexpression of SPTLC3
     Search LSBio for Antibodies for SPTLC3
    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      SPTLC3 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4