SPHK1 Gene (Protein Coding)

Sphingosine Kinase 1

GC17P076376
GIFtS:
48
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-a... See more...

Aliases for SPHK1 Gene

Aliases for SPHK1 Gene

  • Sphingosine Kinase 1 2 3 4 5
  • SPHK 2 3 4
  • Acetyltransferase SPHK1 3 4
  • SPK 1 3 4
  • SK 1 3 4
  • EC 2.7.1.91 4
  • EC 2.3.1.- 4
  • SPHK1 5
  • SK1 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. Phosphorylation of this protein alters its catalytic activity and promotes its translocation to the plasma membrane. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2017]

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 and Salivary Gland Carcinoma. Among its related pathways are Signaling by GPCR and S1P3 pathway. Gene Ontology (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 Summary 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 (PubMed:20577214, PubMed:23602659, PubMed:29662056, PubMed:24929359, PubMed:11923095). In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis (PubMed:16118219). Involved in the regulation of inflammatory response and neuroinflammation. Via the product sphingosine 1-phosphate, stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling leading to IL17 secretion (PubMed:20577214). In response to TNF and in parallel to NF-kappa-B activation, negatively regulates RANTES induction through p38 MAPK signaling pathway (PubMed:23935096). Involved in endocytic membrane trafficking induced by sphingosine, recruited to dilate endosomes, also plays a role on later stages of endosomal maturation and membrane fusion independently of its kinase activity (PubMed:28049734, PubMed:24929359). In Purkinje cells, seems to be also involved in the regulation of autophagosome-lysosome fusion upon VEGFA (PubMed:25417698).
  • Has serine acetyltransferase activity on PTGS2/COX2 in an acetyl-CoA dependent manner. The acetyltransferase activity increases in presence of the kinase substrate, sphingosine. During neuroinflammation, through PTGS2 acetylation, promotes neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, which results in an increase of phagocytic microglia.

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

Additional gene information for SPHK1 Gene

No data available for PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPHK1 Gene

Genomics for SPHK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SPHK1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPHK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPHK1

Top Transcription factor binding sites by QIAGEN in the SPHK1 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for SPHK1 Gene

Latest Assembly
chr17:76,376,584-76,387,860
(GRCh38/hg38)
Size:
11,277 bases
Orientation:
Plus strand

Previous Assembly
chr17:74,379,285-74,383,936
(GRCh37/hg19 by Entrez Gene)
Size:
4,652 bases
Orientation:
Plus strand

chr17:74,372,665-74,383,941
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for SPHK1 Gene

Proteins for SPHK1 Gene

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  • 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 (PubMed:12080051). Interacts with CIB1, the interaction occurs in a calcium-dependent manner (PubMed:19854831). Interacts with TRAF2 (PubMed:20577214). Interacts with EEF1A1; the interaction enhances SPHK1 kinase activity (PubMed:18263879).

    Three dimensional structures from OCA and Proteopedia for SPHK1 Gene

    Alternative splice isoforms for SPHK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPHK1 Gene

Protein Expression for SPHK1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SPHK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SPHK1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for SPHK1
  • Santa Cruz Biotechnology (SCBT) Antibodies for SPHK1

No data available for DME Specific Peptides for SPHK1 Gene

Domains & Families for SPHK1 Gene

Gene Families for SPHK1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SPHK1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPHK1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78254 (Q53ZR5_HUMAN)
  • Sphingosine kinase 1, isoform CRA_c (Q96GK1_HUMAN)
  • SPHK1 protein (Q9BTG7_HUMAN)
  • Sphingosine kinase 1 (SPHK1_HUMAN)
genes like me logo Genes that share domains with SPHK1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPHK1 Gene

Function for SPHK1 Gene

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  6. Cell Lines for research

Molecular function for SPHK1 Gene

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 (PubMed:20577214, PubMed:23602659, PubMed:29662056, PubMed:24929359, PubMed:11923095). In contrast to proapoptotic SPHK2, has a negative effect on intracellular ceramide levels, enhances cell growth and inhibits apoptosis (PubMed:16118219). Involved in the regulation of inflammatory response and neuroinflammation. Via the product sphingosine 1-phosphate, stimulates TRAF2 E3 ubiquitin ligase activity, and promotes activation of NF-kappa-B in response to TNF signaling leading to IL17 secretion (PubMed:20577214). In response to TNF and in parallel to NF-kappa-B activation, negatively regulates RANTES induction through p38 MAPK signaling pathway (PubMed:23935096). Involved in endocytic membrane trafficking induced by sphingosine, recruited to dilate endosomes, also plays a role on later stages of endosomal maturation and membrane fusion independently of its kinase activity (PubMed:28049734, PubMed:24929359). In Purkinje cells, seems to be also involved in the regulation of autophagosome-lysosome fusion upon VEGFA (PubMed:25417698).
UniProtKB/Swiss-Prot Function:
Has serine acetyltransferase activity on PTGS2/COX2 in an acetyl-CoA dependent manner. The acetyltransferase activity increases in presence of the kinase substrate, sphingosine. During neuroinflammation, through PTGS2 acetylation, promotes neuronal secretion of specialized preresolving mediators (SPMs), especially 15-R-lipoxin A4, which results in an increase of phagocytic microglia.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a sphingoid base + ATP = a sphingoid 1-phosphate + ADP + H(+); Xref=Rhea:RHEA:51496, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:76941, ChEBI:CHEBI:84410, ChEBI:CHEBI:456216; EC=2.7.1.91; Evidence={ECO:0000269|PubMed:10802064, ECO:0000269|PubMed:20577214, ECO:0000269|PubMed:23602659, ECO:0000269|PubMed:24929359, ECO:0000269|PubMed:25417698};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-seryl-[protein] = CoA + O-acetyl-L-seryl-[protein]; Xref=Rhea:RHEA:59392, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:15352, ChEBI:CHEBI:29999, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:141128; Evidence={ECO:0000250|UniProtKB:Q8CI15};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + sphinganine = ADP + H(+) + sphinganine 1-phosphate; Xref=Rhea:RHEA:15465, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57817, ChEBI:CHEBI:57939, ChEBI:CHEBI:456216; EC=2.7.1.91; Evidence={ECO:0000269|PubMed:10802064, ECO:0000269|PubMed:11923095};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + sphing-4-enine = ADP + H(+) + sphing-4-enine 1-phosphate; Xref=Rhea:RHEA:35847, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57756, ChEBI:CHEBI:60119, ChEBI:CHEBI:456216; EC=2.7.1.91; Evidence={ECO:0000269|PubMed:10802064, ECO:0000269|PubMed:11923095};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-hexadecyl-2-amino-sn-glycerol + ATP = 1-O-hexadecyl-2-desoxy-2-amino-sn-glycero-3-phosphate + ADP + H(+); Xref=Rhea:RHEA:41163, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:77786, ChEBI:CHEBI:77787, ChEBI:CHEBI:456216; Evidence={ECO:0000269|PubMed:11923095};.
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}; KM=3.8 uM for 1-O-hexadecyl-2-amino-sn-glycerol {ECO:0000269|PubMed:11923095}; KM=15.7 uM for sphing-4-enine {ECO:0000269|PubMed:11923095}; KM=46 uM for sphinganine {ECO:0000269|PubMed:11923095}; KM=24 uM for sphingosine {ECO:0000269|PubMed:18263879}; KM=89 uM for ATP {ECO:0000269|PubMed:18263879}; Note=Kcat is 124 s(-1) for sphingosine and increases to 304 s(-1) upon interaction with EEF1A1. {ECO:0000269|PubMed:18263879}; pH dependence: Optimum pH is 7.4. {ECO:0000269|PubMed:10947957};
UniProtKB/Swiss-Prot EnzymeRegulation:
Acetyltransferase activity increases in presence of the kinase substrate, sphingosine (By similarity). In Purkinje cells, kinase activity on sphingosine increases in presence of VEGFA (PubMed:25417698). In neurons, kinase activity increases during the first 24h in presence of Amyloid-beta protein 42 to decrease after 96h (By similarity).

Enzyme Numbers (IUBMB) for SPHK1 Gene

Phenotypes From GWAS Catalog for SPHK1 Gene

Gene Ontology (GO) - Molecular Function for SPHK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IDA 10947957
GO:0001727 lipid kinase activity IBA 21873635
GO:0003677 DNA binding IDA 12393916
GO:0003951 NAD+ kinase activity IEA --
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 Models for research

  • Taconic Biosciences Mouse Models for SPHK1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPHK1

Clone products for research

  • Addgene plasmids for SPHK1

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. Endosome membrane. Peripheral membrane protein. Membrane, clathrin-coated pit. Cell junction, synapse. Note=Translocated from the cytoplasm to the plasma membrane in a CIB1-dependent manner (PubMed:19854831). Binds to membranes containing negatively charged lipids but not neutral lipids (PubMed:24929359). Recruited to endocytic membranes by sphingosine where promotes membrane fusion (By similarity). {ECO:0000250 UniProtKB:Q8CI15, ECO:0000269 PubMed:19854831, ECO:0000269 PubMed:24929359}.

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
endosome 5
cytosol 5
nucleus 4
extracellular 3
mitochondrion 3
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPHK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IBA,IDA 15623571
GO:0005768 endosome IEA --
GO:0005829 cytosol TAS 10863092
GO:0005886 plasma membrane IEA,IDA 19854831
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

Pathways by source for SPHK1 Gene

2 GeneGo (Thomson Reuters) pathways for SPHK1 Gene
  • Development VEGF signaling and activation
  • Development VEGF signaling via VEGFR2 - generic cascades
1 R&D Systems pathway for SPHK1 Gene
5 Qiagen pathways for SPHK1 Gene
  • Ceramide Pathway
  • Human Embryonic Stem Cell Pluripotency
  • S-1P Stimulated Signaling
  • TNF-Induced Apoptosis Implicating Sphingolipids
  • VEGF and S-1P Signaling
1 Cell Signaling Technology pathway for SPHK1 Gene

SIGNOR curated interactions for SPHK1 Gene

Is activated by:
Is inactivated 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 receptor signaling pathway IEA --
GO:0006457 protein folding TAS --
GO:0006473 protein acetylation ISS --
GO:0006665 sphingolipid metabolic process IBA 21873635
genes like me logo Genes that share ontologies with SPHK1: view

Drugs & Compounds for SPHK1 Gene

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(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, inhibitor 0
Magnesium Approved, Experimental, Investigational Pharma 0
Sphingosine Experimental Pharma 0
Ceramide NG Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sphinganine 1-phosphate
  • (2S,3R)-2-Amino-3-hydroxyoctadecyl dihydrogen phosphate
  • Dihydrosphingosine 1-phosphate
  • Dihydrosphingosine-1-phosphate
  • (2S,3R)-2-Amino-3-hydroxyoctadecyl dihydrogen phosphoric acid
  • Dihydrosphingosine 1-phosphoric acid
 19794-97-9
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
Cer(d18:0/12:0)
  • C12:0 DHCer
  • N-(Dodecanoyl)-sphinganine
  • N-Dodecanoyldihydrosphingosine
  • N-Lauroyldihydrosphingosine
  • N-Lauroylsphinganine
Cer(d18:0/14:0)
  • C14DH Cer
  • DHC-a 18:0/14:0
  • N-(Myristoyl)-dihydroceramide
  • N-(Tetradecanoyl)-dihydroceramide
  • N-(Tetradecanoyl)-sphinganine
 67030-48-2
Cer(d18:0/16:0)
  • C16DH Cer
  • DHC-a 18:0/16:0
  • N-(Hexadecanoyl)-dihydroceramide
  • N-(Hexadecanoyl)-sphinganine
  • N-(Palmitoyl)-dihydroceramide
 5966-29-0

(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 for research

Transcripts for SPHK1 Gene

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mRNA/cDNA for SPHK1 Gene

5 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPHK1

Clone products for research

  • Addgene plasmids for SPHK1

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

Expression for SPHK1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPHK1 Gene

mRNA expression in normal human tissues for SPHK1 Gene
mRNA expression by GTEx for SPHK1 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SPHK1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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. Expressed in brain cortex (at protein level) (PubMed:29662056).

Evidence on tissue expression from TISSUES for SPHK1 Gene

  • Skin(4.6)
  • Kidney(4.5)
  • Blood(4.5)
  • Nervous system(2.6)
  • Heart(2.6)
  • Intestine(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.3)
  • Muscle(2.2)
  • Lung(2.2)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with SPHK1: view

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 30 31
  • 99.3 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 90 (a)
 OneToMany
-- 31
  • 66 (a)
 OneToMany
Dog
(Canis familiaris)
 Mammalia SPHK1 30 31
  • 86.01 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SPHK1 30 31
  • 82.53 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Sphk1 30 17 31
  • 80.34 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Sphk1 30
  • 78.66 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SPHK1 31
  • 74 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SPHK1 30 31
  • 65.35 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SPHK1 31
  • 40 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia sphk1 30
  • 59.65 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100331840 30
  • 61.38 (n)
SPHK1 31
  • 54 (a)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006995 30
  • 52.87 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Sk2 30 31
  • 51.63 (n)
 ManyToMany
Sk1 31 32
  • 22 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea C34C6.5 32
  • 28 (a)
sphk-1 31
  • 23 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes LCB4 31
  • 16 (a)
 ManyToMany
LCB5 31 33
  • 15 (a)
 ManyToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToMany
Species where no ortholog for SPHK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPHK1: view image

Paralogs for SPHK1 Gene

Paralogs for SPHK1 Gene

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

  • SPHK1_HUMAN
  • K7EJ32_HUMAN
  • K7EMA4_HUMAN
  • Q53ZR5_HUMAN
  • Q9BTG7_HUMAN
genes like me logo Genes that share paralogs with SPHK1: view

Variants for SPHK1 Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPHK1 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs138977514 Benign: not provided 76,387,028(+) T/C
NM_001142601.2(SPHK1):c.597T>C (p.Arg199=) 		SYNONYMOUS
rs200800534 Benign: not provided 76,385,986(+) G/C
NM_001142601.2(SPHK1):c.12G>C (p.Ala4=) 		SYNONYMOUS
rs201987985 Likely Benign: not provided 76,385,481(+) C/A
NM_001142601.2(SPHK1):c.-164C>A 		MISSENSE_VARIANT,FIVE_PRIME_UTR
rs549579958 Likely Benign: not provided 76,387,026(+) CG/C
NM_001142601.2(SPHK1):c.596del (p.Arg199fs) 		FRAMESHIFT
rs56341546 Benign: not provided 76,387,567(+) C/T
NM_001142601.2(SPHK1):c.1136C>T (p.Pro379Leu) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SPHK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for SPHK1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for SPHK1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for SPHK1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
renal fibrosis
salivary gland carcinoma
  • salivary gland cancer
glioblastoma
  • adult glioblastoma multiforme
estrogen-receptor positive breast cancer
brachydactyly, type e1
  • bde1
- elite association - COSMIC cancer census association via MalaCards
Search SPHK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPHK1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 KE … Pitson SM (The Journal of biological chemistry 2010) 3 4 23
  2. SphK1 and SphK2, sphingosine kinase isoenzymes with opposing functions in sphingolipid metabolism. (PMID: 16118219) Maceyka M … Spiegel S (The Journal of biological chemistry 2005) 3 4 23
  3. Identification of functional nuclear export sequences in human sphingosine kinase 1. (PMID: 14575709) Inagaki Y … Igarashi Y (Biochemical and biophysical research communications 2003) 3 4 23
  4. Neuronal SphK1 acetylates COX2 and contributes to pathogenesis in a model of Alzheimer's Disease. (PMID: 29662056) Lee JY … Jin HK (Nature communications 2018) 3 4
  5. Sphingosine and Sphingosine Kinase 1 Involvement in Endocytic Membrane Trafficking. (PMID: 28049734) Lima S … Spiegel S (The Journal of biological chemistry 2017) 3 4

ExternalLinks

View latest publications for SPHK1 gene in Mastermind

Products for SPHK1 Gene