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Aliases for SPHK1 Gene

Aliases for SPHK1 Gene

  • Sphingosine Kinase 1 2 3 5
  • SPK 1 3 4
  • SK 1 3 4
  • SPHK 3 4
  • EC 2.7.1.91 4
  • SPK 4

External Ids for SPHK1 Gene

Previous GeneCards Identifiers for SPHK1 Gene

  • GC17U990140
  • GC17P077371
  • GC17P074843
  • GC17P074977
  • GC17P071890
  • GC17P074380
  • GC17P069809

Summaries for SPHK1 Gene

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]

CIViC summary for SPHK1 Gene

GeneCards Summary for SPHK1 Gene

SPHK1 (Sphingosine Kinase 1) is a Protein Coding gene. Diseases associated with SPHK1 include Renal Fibrosis. Among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and Immune response Fc epsilon RI pathway. GO annotations related to this gene include magnesium ion binding and protein phosphatase 2A binding. An important paralog of this gene is SPHK2.

UniProtKB/Swiss-Prot for SPHK1 Gene

  • 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.

Tocris 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. Two mammalian isoforms have been cloned - SPHK1 and SPHK2.

Gene Wiki entry for SPHK1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPHK1 Gene

Genomics for SPHK1 Gene

Regulatory Elements for SPHK1 Gene

Enhancers for SPHK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G076368 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -5.4 -5433 5.6 HDGF RB1 ZSCAN4 SIN3A GLI4 ZNF48 RAD21 GLIS2 GATA2 ZNF143 SPHK1 QRICH2 PRPSAP1 GC17M076371 GC17P076379
GH17G076377 1 FANTOM5 dbSUPER 25.9 +1.0 998 0.2 CTCF KLF11 ZNF511 DMAP1 ZNF394 PPARG KMT2B ZNF48 ZIC2 YY1 SPHK1 JMJD6 RHBDF2 QRICH2 TEN1 PRPSAP1
GH17G076513 2 FANTOM5 Ensembl ENCODE dbSUPER 12.1 +139.2 139170 5.4 HDGF PKNOX1 ARNT WRNIP1 SIN3A FEZF1 YBX1 ZNF2 ZNF416 ZNF207 UNK ENSG00000267342 TRIM65 ENSG00000266980 ENSG00000267546 CDK3 ENSG00000267801 METTL23 LINC02080 MYO15B
GH17G076441 1.2 Ensembl ENCODE 18.7 +65.7 65676 1.9 TBP HDGF FOXA2 CBX3 TBL1XR1 NFXL1 ZNF2 RAD21 GATA2 CBX5 SPHK1 RPL7P49 AANAT
GH17G076511 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +135.3 135317 0.6 MAFG CEBPB YBX1 CEBPG ZNF316 MAFF CEBPA MLLT1 MAFK EMSY SPHK1 RHBDF2 JMJD6 GC17M076510
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPHK1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPHK1 Gene

Chromosome:
17
Start:
76,376,584 bp from pter
End:
76,387,860 bp from pter
Size:
11,277 bases
Orientation:
Plus strand

Genomic View for SPHK1 Gene

Genes around SPHK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPHK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPHK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPHK1 Gene

Proteins for SPHK1 Gene

  • Protein details for SPHK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYA1-SPHK1_HUMAN
    Recommended name:
    Sphingosine kinase 1
    Protein Accession:
    Q9NYA1
    Secondary Accessions:
    • Q8N632
    • Q96GK1
    • Q9HD92
    • Q9NY70
    • Q9NYL3

    Protein attributes for SPHK1 Gene

    Size:
    384 amino acids
    Molecular mass:
    42518 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with ACY1 (By similarity). Binds to calmodulin. Interacts with SPHKAP. Interacts with CIB1, the interaction occurs in a calcium-dependent manner.
    Miscellaneous:
    • Sphingosine 1-phosphate stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling.

    Three dimensional structures from OCA and Proteopedia for SPHK1 Gene

    Alternative splice isoforms for SPHK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPHK1 Gene

Post-translational modifications for SPHK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • R&D Systems Antibodies for SPHK1 (Sphingosine Kinase 1/SPHK1)
  • Cell Signaling Technology (CST) Antibodies for SPHK1 (SPHK1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for SPHK1

Protein Products

Assay Products

  • Cloud-Clone Corp. Assay Kits for SPHK1

No data available for DME Specific Peptides for SPHK1 Gene

Domains & Families for SPHK1 Gene

Gene Families for SPHK1 Gene

Suggested Antigen Peptide Sequences for SPHK1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPHK1: view

No data available for UniProtKB/Swiss-Prot for SPHK1 Gene

Function for SPHK1 Gene

Molecular function for SPHK1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=14 uM for sphingosine {ECO:0000269 PubMed:10947957}; KM=20 uM for dihydrosphingosine {ECO:0000269 PubMed:10947957}; KM=77 uM for ATP {ECO:0000269 PubMed:10947957}; pH dependence: Optimum pH is 7.4. {ECO:0000269 PubMed:10947957};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a sphingoid base = ADP + a sphingoid base 1-phosphate.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for SPHK1 Gene

Gene Ontology (GO) - Molecular Function for SPHK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding ISS --
GO:0003677 DNA binding IDA 12393916
GO:0003951 NAD+ kinase activity IEA --
GO:0005515 protein binding IPI 12080051
GO:0005516 calmodulin binding IDA,IEA 10947957
genes like me logo Genes that share ontologies with SPHK1: view
genes like me logo Genes that share phenotypes with SPHK1: view

Animal Models for SPHK1 Gene

MGI Knock Outs for SPHK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPHK1

CRISPR Products

miRNA for SPHK1 Gene

miRTarBase miRNAs that target SPHK1

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPHK1 Gene

Localization for SPHK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPHK1 Gene

Cytoplasm. Nucleus. Cell membrane. Note=Translocated from the cytoplasm to the plasma membrane in a CIB1-dependent manner.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPHK1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
mitochondrion 3
extracellular 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
endosome 1

Gene Ontology (GO) - Cellular Components for SPHK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA,IEA 15623571
GO:0005829 cytosol TAS 10863092
GO:0005886 plasma membrane IEA,IDA 19854831
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SPHK1: view

Pathways & Interactions for SPHK1 Gene

genes like me logo Genes that share pathways with SPHK1: view

SIGNOR curated interactions for SPHK1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SPHK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001568 blood vessel development IEA --
GO:0003376 sphingosine-1-phosphate signaling pathway IEA --
GO:0006457 protein folding TAS --
GO:0006670 sphingosine metabolic process IDA 20577214
GO:0006954 inflammatory response IEA --
genes like me logo Genes that share ontologies with SPHK1: view

Drugs & Compounds for SPHK1 Gene

(27) Drugs for SPHK1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fingolimod Approved, Investigational Pharma Enzyme, substrate 0
Adenosine triphosphate Approved Nutra 0
Sphingosine Experimental Pharma 0
Phenoxodiol Investigational Pharma inhibitor 0
PF-543 Pharma SphK1 inhibitor,cell-permeate,potent and selective 0

(42) Additional Compounds for SPHK1 Gene - From: Novoseek, HMDB, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sphinganine 1-phosphate
  • 2-Amino-3-hydroxyoctadecyl dihydrogen phosphate
  • Dihydrosphingosine 1-phosphate
  • Dihydrosphingosine-1-phosphate
  • Sphinganine 1-phosphate
19794-97-9
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Cer(d18:0/12:0)
Cer(d18:0/14:0)
Cer(d18:0/16:0)

(4) Tocris Compounds for SPHK1 Gene

Compound Action Cas Number
MP A08 Selective ATP competitive SphK1 and 2 inhibitor; cell permeable 219832-49-2
N,N-Dimethylsphingosine Sphingosine kinase inhibitor 119567-63-4
PF 543 hydrochloride Potent and selective SphK1 inhibitor 1706522-79-3
SKI II Selective non-lipid inhibitor of sphingosine kinase 312636-16-1

(3) ApexBio Compounds for SPHK1 Gene

Compound Action Cas Number
PF-543 SphK1 inhibitor,cell-permeate,potent and selective 1415562-82-1
PF-543 Citrate SphK1 inhibitor,potent and cell-permeate 1415562-83-2
SKI II Sphingosine kinase(SK) inhibitor 312636-16-1
genes like me logo Genes that share compounds with SPHK1: view

Drug Products

Transcripts for SPHK1 Gene

Unigene Clusters for SPHK1 Gene

Sphingosine kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPHK1 Gene

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: - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - -
SP9: - - - - - - - -
SP10: - -
SP11:

Relevant External Links for SPHK1 Gene

GeneLoc Exon Structure for
SPHK1
ECgene alternative splicing isoforms for
SPHK1

Expression for SPHK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPHK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPHK1 Gene

This gene is overexpressed in Bone (29.8), Plasma (17.8), Urinary Bladder (7.2), Testis (7.1), and Retina (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPHK1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPHK1 Gene:

SPHK1

SOURCE GeneReport for Unigene cluster for SPHK1 Gene:

Hs.68061

mRNA Expression by UniProt/SwissProt for SPHK1 Gene:

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

Evidence on tissue expression from TISSUES for SPHK1 Gene

  • Skin(4.5)
  • Blood(4.4)
  • Kidney(4.4)
  • Heart(2.2)
  • Nervous system(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with SPHK1: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPHK1 Gene

Orthologs for SPHK1 Gene

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

Orthologs for SPHK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPHK1 34 35
  • 99.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 66 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SPHK1 34 35
  • 86.01 (n)
cow
(Bos Taurus)
Mammalia SPHK1 34 35
  • 82.53 (n)
mouse
(Mus musculus)
Mammalia Sphk1 34 16 35
  • 80.34 (n)
rat
(Rattus norvegicus)
Mammalia Sphk1 34
  • 78.66 (n)
oppossum
(Monodelphis domestica)
Mammalia SPHK1 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPHK1 34 35
  • 65.35 (n)
lizard
(Anolis carolinensis)
Reptilia SPHK1 35
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sphk1 34
  • 59.65 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100331840 34
  • 61.38 (n)
SPHK1 35
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006995 34
  • 52.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sk2 34 35
  • 51.63 (n)
Sk1 36 35
  • 42 (a)
worm
(Caenorhabditis elegans)
Secernentea C34C6.5 36
  • 28 (a)
sphk-1 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LCB4 35
  • 16 (a)
ManyToMany
LCB5 35 37
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for SPHK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPHK1 Gene

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

Paralogs for SPHK1 Gene

Paralogs for SPHK1 Gene

(1) SIMAP similar genes for SPHK1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SPHK1: view

Variants for SPHK1 Gene

Sequence variations from dbSNP and Humsavar for SPHK1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000077203 -- 76,381,165(+) CTCCT(C/T)ATAAA upstream-variant-2KB
rs1000206555 -- 76,385,809(+) GGAAG(C/G)GGGTG intron-variant
rs1001069439 -- 76,382,497(+) GCGTT(C/G)GATAA upstream-variant-2KB
rs1001163754 -- 76,385,028(+) CACCG(C/T)TCTGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1001490365 -- 76,382,021(+) TTGTG(C/G)AAGCC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SPHK1 Gene

Variant ID Type Subtype PubMed ID
dgv5781n54 CNV loss 21841781
dgv5782n54 CNV gain+loss 21841781
esv23649 CNV loss 19812545
nsv2145 CNV deletion 18451855
nsv576055 CNV gain 21841781
nsv576061 CNV loss 21841781
nsv576062 CNV loss 21841781
nsv833547 CNV loss 17160897
nsv833549 CNV gain 17160897

Variation tolerance for SPHK1 Gene

Residual Variation Intolerance Score: 25.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.46; 85.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPHK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPHK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPHK1 Gene

Disorders for SPHK1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPHK1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
renal fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search SPHK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPHK1

Human Genome Epidemiology (HuGE) Navigator
SPHK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPHK1
genes like me logo Genes that share disorders with SPHK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPHK1 Gene

Publications for SPHK1 Gene

  1. Translocation of sphingosine kinase 1 to the plasma membrane is mediated by calcium- and integrin-binding protein 1. (PMID: 19854831) Jarman K.E. … Pitson S.M. (J. Biol. Chem. 2010) 3 4 22 64
  2. Identification of functional nuclear export sequences in human sphingosine kinase 1. (PMID: 14575709) Inagaki Y. … Igarashi Y. (Biochem. Biophys. Res. Commun. 2003) 3 4 22 64
  3. Molecular basis of sphingosine kinase 1 substrate recognition and catalysis. (PMID: 23602659) Wang Z. … Walker N. (Structure 2013) 3 4 64
  4. Sphingosine-1-phosphate is a missing cofactor for the E3 ubiquitin ligase TRAF2. (PMID: 20577214) Alvarez S.E. … Spiegel S. (Nature 2010) 3 4 64
  5. CXCL4-induced monocyte survival, cytokine expression, and oxygen radical formation is regulated by sphingosine kinase 1. (PMID: 20104488) Kasper B. … Petersen F. (Eur. J. Immunol. 2010) 3 22 64

Products for SPHK1 Gene

  • Addgene plasmids for SPHK1

Sources for SPHK1 Gene

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