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SPHK1 Gene

protein-coding   GIFtS: 68
GCID: GC17P074380

Sphingosine Kinase 1

  See SPHK1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Sphingosine Kinase 11 2
SPHK2 3
SK 12 3
SPK 12 3
EC 2.7.1.913
SPK3

External Ids:    HGNC: 112401   Entrez Gene: 88772   Ensembl: ENSG000001761707   OMIM: 6037305   UniProtKB: Q9NYA13   

Export aliases for SPHK1 gene to outside databases

Previous GC identifers: GC17U990140 GC17P077371 GC17P074843 GC17P074977 GC17P071890 GC17P069809


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SPHK1 Gene:
The protein encoded by this gene catalyzes the phosphorylation of sphingosine to form sphingosine-1-phosphate
(S1P), a lipid mediator with both intra- and extracellular functions. Intracellularly, S1P regulates
proliferation and survival, and extracellularly, it is a ligand for cell surface G protein-coupled receptors.
This protein, and its product S1P, play a key role in TNF-alpha signaling and the NF-kappa-B activation pathway
important in inflammatory, antiapoptotic, and immune processes. Alternatively spliced transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for SPHK1 Gene:
SPHK1 (sphingosine kinase 1) is a protein-coding gene. Diseases associated with SPHK1 include hereditary neuralgic amyotrophy. GO annotations related to this gene include NAD+ kinase activity and magnesium ion binding. An important paralog of this gene is CERKL.

UniProtKB/Swiss-Prot: SPHK1_HUMAN, Q9NYA1
Function: Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator
with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent
sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol,
ceramide, or phosphatidylinositol

summary for SPHK1 Gene:
Sphingosine kinase (SphK) mediates the conversion of sphingosine to sphingosine-1-phosphate, a key
sphingolipid signaling molecule involved in cell growth, survival, differentiation and motility. SphK
constitutes an important checkpoint in the regulation of circulating levels of ceramide, sphingosine and
sphingosine-1-phosphate. Two mammalian isoforms have been cloned - SPHK1 and SPHK2.

Gene Wiki entry for SPHK1 (Sphingosine kinase 1) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SPHK1 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): SPHK1 promoter sequence
   Search Chromatin IP Primers for SPHK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPHK1


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

Entrez Gene cytogenetic band: 17q25.2   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.2

SPHK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPHK1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P074380:  view genomic region     (about GC identifiers)

Start:
74,372,665 bp from pter      End:
74,383,941 bp from pter
Size:
11,277 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: SPHK1_HUMAN, Q9NYA1 (See protein sequence)
Recommended Name: Sphingosine kinase 1  
Size: 384 amino acids; 42518 Da
Cofactor: Magnesium
Subunit: Interacts with ACY1 (By similarity). Binds to calmodulin. Interacts with SPHKAP
Miscellaneous: Sphingosine 1-phosphate stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of
NF-kappa-B in response to TNF signaling
4 PDB 3D structures from and Proteopedia for SPHK1:
3VZB (3D)        3VZC (3D)        3VZD (3D)        4L02 (3D)    
Secondary accessions: Q8N632 Q96GK1 Q9HD92 Q9NY70 Q9NYL3
Alternative splicing: 3 isoforms:  Q9NYA1-1   Q9NYA1-2   Q9NYA1-3   (Variant in position: 34:A->T (in dbSNP:rs346803))

Explore the universe of human proteins at neXtProt for SPHK1: NX_Q9NYA1

Explore proteomics data for SPHK1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPHK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001136073.1  NP_001136074.1  NP_068807.2  NP_892010.2  

    ENSEMBL proteins: 
     ENSP00000468474   ENSP00000440970   ENSP00000466422   ENSP00000465002   ENSP00000465726  
     ENSP00000468547   ENSP00000313681   ENSP00000376285  
    Reactome Protein details: Q9NYA1

    SPHK1 Human Recombinant Protein Products:

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    Novus Biologicals SPHK1 Lysates
    Sino Biological Recombinant Protein for SPHK1
    Sino Biological Cell Lysate for SPHK1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPHK1

     
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    antibodies-online peptides for SPHK1

    SPHK1 Antibody Products:

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    antibodies-online antibodies for SPHK1 (114 products) 

    SPHK1 Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: sphingosine kinase 1
    Sphingosine kinase family

    2 InterPro protein domains:
     IPR001206 Diacylglycerol_kinase_cat_dom
     IPR016064 ATP-NAD_kinase_PpnK-typ

    Graphical View of Domain Structure for InterPro Entry Q9NYA1

    ProtoNet protein and cluster: Q9NYA1

    UniProtKB/Swiss-Prot: SPHK1_HUMAN, Q9NYA1
    Similarity: Contains 1 DAGKc domain


    Find genes that share domains with SPHK1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPHK1_HUMAN, Q9NYA1
    Function: Catalyzes the phosphorylation of sphingosine to form sphingosine 1-phosphate (SPP), a lipid mediator
    with both intra- and extracellular functions. Also acts on D-erythro-sphingosine and to a lesser extent
    sphinganine, but not other lipids, such as D,L-threo-dihydrosphingosine, N,N-dimethylsphingosine, diacylglycerol,
    ceramide, or phosphatidylinositol
    Catalytic activity: ATP + sphinganine = ADP + sphinganine 1-phosphate
    Catalytic activity: ATP + sphingosine = ADP + sphingosine 1-phosphate
    Biophysicochemical properties: Kinetic parameters: KM=14 uM for sphingosine; KM=20 uM for dihydrosphingosine;
    KM=77 uM for ATP; pH dependence: Optimum pH is 7.4;

         Enzyme Number (IUBMB): EC 2.7.1.911

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ISS--
    GO:0003677DNA binding IDA12393916
    GO:0003951NAD+ kinase activity IEA--
    GO:0004143diacylglycerol kinase activity IEA--
    GO:0005515protein binding IPI12080051
         
    Find genes that share ontologies with SPHK1           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for SPHK1:
     Decreased CYP1A1 activity afte  Decreased number of cells in m  Increased HPV18 LCR reporter a  Increased apoptosis 
     Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Sphk1):
     cardiovascular system  cellular  embryogenesis  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle  nervous system  normal 

    Find genes that share phenotypes with SPHK1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SPHK1: Sphk1tm1Rlp Sphk1tm1Npa Sphk1tm1.1Cgh

       genOway: Develop your customized and physiologically relevant rodent model for SPHK1

    miRNA
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    miRTarBase miRNAs that target SPHK1:
    hsa-mir-484 (MIRT041985), hsa-mir-124-3p (MIRT022271)

    Block miRNA regulation of human, mouse, rat SPHK1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SPHK1:
    hsa-miR-124 hsa-miR-3176 hsa-miR-506 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPHK1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat SPHK1

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for SPHK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SPHK1 (NM_182965)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPHK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPHK1
    Addgene plasmids for SPHK1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPHK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPHK1_HUMAN, Q9NYA1: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus5
    plasma membrane4
    extracellular2
    mitochondrion2
    cytoskeleton1
    endoplasmic reticulum1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS10863092
    GO:0005886plasma membrane IDA--
    GO:0008021synaptic vesicle IEA--

    Find genes that share ontologies with SPHK1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SPHK1 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Sphingolipid de novo biosynthesis0.46
    Sphingolipid metabolism0.61
    Sphingolipid Metabolism0.42
    2Immune response Fc epsilon RI pathway
    VEGF signaling pathway0.39
    Fc-epsilon receptor I signaling in mast cells0.34
    VEGF - VEGF R2 Signaling Pathways0.35
    3Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    4Protein folding
    Chaperonin-mediated protein folding0.91
    Association of TriC/CCT with target proteins during biosynthesis0.58
    Protein folding0.91
    5Development VEGF signaling and activation
    Development VEGF signaling and activation0.75
    Development VEGF signaling via VEGFR2 generic cascades0.75


    Find genes that share SuperPaths with SPHK1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for SPHK1
        VEGF - VEGF R2 Signaling Pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SPHK1
        Ceramide Pathway
    S-1P Stimulated Signaling
    TNF-Induced Apoptosis Implicating Sphingolipids
    Human Embryonic Stem Cell Pluripotency
    VEGF and S-1P Signaling

    1 Cell Signaling Technology (CST) Pathway for SPHK1
        Ca, cAMP and Lipid Signaling

    2 GeneGo (Thomson Reuters) Pathways for SPHK1
        Development VEGF signaling via VEGFR2 - generic cascades
    Development VEGF signaling and activation

    Selected BioSystems Pathways for SPHK1 (see all 7)
        Signal Transduction of S1P Receptor
    Sphingolipid Metabolism
    sphingosine and sphingosine-1-phosphate metabolism
    S1P1 pathway
    Sphingosine 1-phosphate (S1P) pathway


    2 Reactome Pathways for SPHK1
        Association of TriC/CCT with target proteins during biosynthesis
    Sphingolipid de novo biosynthesis


    Selected Kegg Pathways  (Kegg details for SPHK1) (see all 6):
        Sphingolipid metabolism
    Metabolic pathways
    Calcium signaling pathway
    VEGF signaling pathway
    Fc gamma R-mediated phagocytosis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPHK1: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat
              VEGF Signaling in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SPHK1

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

    Selected Interacting proteins for SPHK1 (Q9NYA11, 2, 3 ENSP000003136814) via UniProtKB, MINT, STRING, and/or I2D (see all 103)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTSBP078581, 2, 3, ENSP000003420704EBI-985303,EBI-715062 MINT-3974266 MINT-3974278 MINT-3974294 MINT-3974318 I2D: score=2 STRING: ENSP00000342070
    TRAF6Q9Y4K31, 2, 3EBI-985303,EBI-359276 MINT-4050292 MINT-4050310 I2D: score=2 
    FHL2Q141921, 3, ENSP000003229094EBI-985303,EBI-701903 I2D: score=3 STRING: ENSP00000322909
    EEF1A1P681041, 3, ENSP000003300544EBI-985303,EBI-352162 I2D: score=1 STRING: ENSP00000330054
    SPHKAPQ2M3C71, 3, ENSP000003759094EBI-985303,EBI-1803914 I2D: score=2 STRING: ENSP00000375909
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001568blood vessel development IEA--
    GO:0001934positive regulation of protein phosphorylation IEA--
    GO:0001956positive regulation of neurotransmitter secretion IEA--
    GO:0006457protein folding TAS--
    GO:0006665sphingolipid metabolic process TAS--

    Find genes that share ontologies with SPHK1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for SPHK1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    N,N-Dimethylsphingosine Sphingosine kinase inhibitor[119567-63-4]
    SK1-ISphingosine kinase 1 (SphK1) inhibitor; antiproliferative[1072443-89-0]

    Selected HMDB Compounds for SPHK1 (see all 42)    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Cer(d18:0/12:0) ----
    Cer(d18:0/14:0) ----
    Cer(d18:0/16:0) ----
    Cer(d18:0/18:0) ----
    Cer(d18:0/18:1(11Z)) ----
    Cer(d18:0/18:1(9Z)) ----
    Cer(d18:0/20:0) ----
    Cer(d18:0/22:0) ----

    Selected Novoseek inferred chemical compound relationships for SPHK1 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sphingosine 97.7 499 16281067 (6), 18620522 (6), 17643421 (6), 14532121 (4) (see all 99)
    n,n-dimethylsphingosine 93.7 32 15302883 (2), 11418646 (2), 15848761 (1), 15265705 (1) (see all 14)
    ceramide 83.9 68 16357178 (5), 16281067 (4), 19240026 (4), 19765607 (3) (see all 22)
    sphinganine 1-phosphate 80.4 5 18644793 (1), 16278291 (1), 16529909 (1)
    ceramides 55.1 1 18283525 (1)
    lipid 50.8 35 19782042 (2), 18638570 (1), 12954646 (1), 15265705 (1) (see all 20)
    phosphatidylserine 35.9 4 10751414 (1), 19782042 (1)
    camptothecin 32.8 7 16357178 (3), 16516161 (3)
    phosphatidylinositol 31.4 2 19325137 (1), 11418646 (1)
    phorbol 28.5 1 20236935 (1)



    Find genes that share compounds with SPHK1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SPHK1 gene (4 alternative transcripts): 
    NM_001142601.1  NM_001142602.1  NM_021972.3  NM_182965.2  

    Unigene Cluster for SPHK1:

    Sphingosine kinase 1
    Hs.68061  [show with all ESTs]
    Unigene Representative Sequence: AK095578
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000591651 ENST00000545180(uc002jrf.1) ENST00000588682 ENST00000591762
    ENST00000590379 ENST00000592299 ENST00000590959 ENST00000323374(uc002jrh.2 uc002jrj.2 uc002jri.2)
    ENST00000392496(uc002jrg.1 uc002jrk.3) ENST00000587167
    miRNA
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    hsa-miR-124 hsa-miR-3176 hsa-miR-506 hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidSPHK1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): SPHK1 (NM_182965)
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    Addgene plasmids for SPHK1 
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPHK1
      QuantiTect SYBR Green Assays in human, mouse, rat SPHK1
      QuantiFast Probe-based Assays in human, mouse, rat SPHK1

    Additional mRNA sequence: 

    AF200328.1 AF238083.1 AF266756.1 AJ245504.1 AK022402.1 AK023393.1 AK095578.1 AK122781.1 
    AK225250.1 AK225258.1 AK292294.1 AK292614.1 BC004112.2 BC008040.2 BC009419.1 BC014439.1 
    BC030553.1 

    12 DOTS entries:

    DT.97787241  DT.121009204  DT.100818135  DT.100818143  DT.100036081  DT.100818141  DT.121009321  DT.95274954 
    DT.100722931  DT.100818142  DT.100698066  DT.91708490 

    Selected AceView cDNA sequences (see all 113):

    BC030553 BU630558 CA307119 CD369198 BM810136 AA026251 BQ027486 AK022402 
    BM471470 BX106465 CD366097 BU728196 NM_182965 BM709951 BU626812 AI074186 
    BC004112 AI042283 BM916526 BM808666 BU617770 BG026631 BQ647377 BG680521 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SPHK1 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b · 9c · 9d ^ 10a · 10b
    SP1:        -     -     -     -     -     -     -     -     -           -     -                                               -               
    SP2:                                                  -     -           -     -                                               -               
    SP3:                                                  -     -           -                                                     -               
    SP4:                                                        -           -     -                                               -               
    SP5:              -     -     -     -     -     -     -     -           -     -                                                               


    ECgene alternative splicing isoforms for SPHK1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    SPHK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAGGGCA
    SPHK1 Expression
    About this image


    SPHK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Primitive Streak (Early Embryo)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
     
     Neural Ectoderm (Nervous System)
             Neural ectoderm cells
     
     Epiblast (Early Embryo)
             Extraembryonic Mural Cells Extraembryonic Mesoderm
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
    SPHK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPHK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.68061

    UniProtKB/Swiss-Prot: SPHK1_HUMAN, Q9NYA1
    Tissue specificity: Widely expressed with highest levels in adult liver, kidney, heart and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SPHK1: 
              Hypertension in human mouse rat
              Endothelial Cell Biology in human mouse rat
              VEGF Signaling in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SPHK1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sphk11 , 5 sphingosine kinase 11, 5 80.34(n)1
    82.61(a)1
      11 (81.42 cM)5
    206981  NM_025367.61  NP_079643.21 
     1165309255 
    chicken
    (Gallus gallus)
    Aves SPHK11 sphingosine kinase 1 65.35(n)
    58.31(a)
      427803  XM_004946119.1  XP_004946176.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPHK16
    sphingosine kinase 1
    40(a)
    1 ↔ 1
    2(112293474-112338472)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX706001.12   -- 74.9(n)    BX706001.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003318401 sphingosine kinase 2-like 61.38(n)
    55.39(a)
      100331840  XM_002667539.3  XP_002667585.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sk13
    Sk21
    phosphorylation diacylglycerol kinase3
    Sphingosine kinase 21
    42(a)3
    51.63(n)1
    39.78(a)1
      10B133
    3262191  NM_139505.41  NP_647762.31 
    worm
    (Caenorhabditis elegans)
    Secernentea C34C6.53 Diacylglycerol kinase catalytic domain
    (presumed)
    28(a)   II(8699253-8701591)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes LCB5(YLR260W)4 Minor sphingoid long-chain base kinase, paralog of more   --   12(665844-667907) 850964  NP_013361.1 


    ENSEMBL Gene Tree for SPHK1 (if available)
    TreeFam Gene Tree for SPHK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SPHK1 gene
    CERKL2  CERK2  AGK2  SPHK22  
    1 SIMAP similar gene for SPHK1 using alignment to 5 protein entries:     SPHK1_HUMAN (see all proteins):
    SPHK2

    Find genes that share paralogs with SPHK1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SPHK1 (see all 172)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1479095051,2
    C--74378771(+) CAGTGC/TTTCCC 3 -- us2k10--------
    rs3467971,2
    C,F,A,H--74378901(+) CCAGTC/ACCCTC 3 -- us2k126Minor allele frequency- A:0.10NA NS EA WA CSA 3628
    rs1483592461,2
    C--74379060(+) CCCAC-/AGCCGCC 3 -- us2k10--------
    rs1416759661,2
    --74379746(+) CCGCCA/GTAACC 4 -- us2k10--------
    rs1436475231,2
    C--74379899(+) CACGCC/TGAGCC 4 -- us2k10--------
    rs1884854071,2
    --74379961(+) GGCCCC/GCAGGC 4 -- us2k10--------
    rs1931327021,2
    C--74380301(+) TCCCCC/GGGGAG 4 -- us2k10--------
    rs284036081,2
    C--74380574(+) TGGGCA/GCGGGC 4 -- us2k10--------
    rs9087211,2
    C,A--74380786(-) GACTGG/AAGCGC 4 -- ut51 us2k18Minor allele frequency- A:0.09MN EA NA CSA WA 1680
    rs1857145891,2
    --74380842(+) GCCACC/TGTAGG 4 -- ut51 us2k10--------

    HapMap Linkage Disequilibrium report for SPHK1 (74372665 - 74383941 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SPHK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv23649CNV Loss19812545
    nsv833547CNV Loss17160897
    nsv2145CNV Loss18451855
    nsv833549CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SPHK1
    DNA2.0 Custom Variant and Variant Library Synthesis for SPHK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603730    OMIM disorders: --

    1 disease for SPHK1:    
    About MalaCards
    hereditary neuralgic amyotrophy

    1 disease from the University of Copenhagen DISEASES database for SPHK1:
    Cancer

    Find genes that share disorders with SPHK1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SPHK1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glioblastoma 44.4 15 19074142 (5), 16106218 (3), 19723667 (2), 17855624 (1) (see all 5)
    glioblastoma multiforme 35.6 4 16106218 (2), 19074142 (1), 19723667 (1)
    renal fibrosis 27 2 19789541 (1), 19657322 (1)
    cancer 25.9 40 18691013 (4), 18638570 (3), 18701480 (3), 18620522 (3) (see all 14)
    tumors 22.4 32 18058224 (5), 20508814 (2), 17699730 (1), 18638570 (1) (see all 11)
    inflammation 18.8 6 17913601 (1), 15191888 (1), 15743396 (1), 19665772 (1) (see all 5)
    necrosis 17.8 6 17699730 (1), 15710602 (1), 20053797 (1), 16269668 (1) (see all 5)
    breast cancer 17.6 15 16194537 (4), 12881510 (2), 18701480 (1), 20110355 (1) (see all 9)
    glioma 9.67 9 19147534 (2), 18055454 (2), 17855624 (2), 17376432 (1)
    colon cancer 8.18 14 18824518 (3), 19240026 (3), 18701480 (1)

    Human Genome Epidemiology (HuGE) Navigator: SPHK1 (1 document)

    Export disorders for SPHK1 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)
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    PubMed articles for SPHK1 gene, integrated from 10 sources (see all 291):
    (articles sorted by number of sources associating them with SPHK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of functional nuclear export sequences in human sphingosine kinase 1. (PubMed id 14575709)1, 2, 9 Inagaki Y.... Igarashi Y. (Biochem. Biophys. Res. Commun. 2003)
    2. Molecular basis of sphingosine kinase 1 substrate recognition and catalysis. (PubMed id 23602659)1, 2 Wang Z.... Walker N. (Structure 2013)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Cloning and characterization of a protein kinase A anchoring protein (AKAP)-related protein that interacts with and regulates sphingosine kinase 1 activity. (PubMed id 12080051)1, 2 Lacana E.... Spiegel S. (J. Biol. Chem. 2002)
    5. Functional characterization of human sphingosine kinase-1. (PubMed id 10802064)1, 2 Nava V.E.... Spiegel S. (FEBS Lett. 2000)
    6. Human sphingosine kinase: purification, molecular cloning and characterization of the native and recombinant enzymes. (PubMed id 10947957)1, 2 Pitson S.M.... Wattenberg B.W. (Biochem. J. 2000)
    7. Human sphingosine kinase: molecular cloning, functional characterization and tissue distribution. (PubMed id 10863092)1, 2 Melendez A.J.... Takacs L. (Gene 2000)
    8. Molecular cloning and functional characterization of murine sphingosine kinase. (PubMed id 9726979)1, 3 Kohama T....Spiegel S. (J. Biol. Chem. 1998)
    9. Clinical significance of sphingosine kinase-1 expression in human astrocytomas progression and overall patient survival. (PubMed id 18980995)1, 9 Li J....Li M. (Clin. Cancer Res. 2008)
    10. Sphingosine kinase 1 expression is regulated by signaling through PI3K, AKT2, and mTOR in human coronary artery smooth muscle cells. (PubMed id 17482291)1, 9 Francy J.M....Yun J.K. (Biochim. Biophys. Acta 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8877 HGNC: 11240 AceView: SPHK1 Ensembl:ENSG00000176170 euGenes: HUgn8877
    ECgene: SPHK1 Kegg: 8877 H-InvDB: SPHK1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SPHK1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SPHK1 gene:
    Search GeneIP for patents involving SPHK1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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