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SPHK1 sphingosine kinase 1 [ Homo sapiens (human) ]

Gene ID: 8877, updated on 4-Jan-2025

Summary

Official Symbol
SPHK1provided by HGNC
Official Full Name
sphingosine kinase 1provided by HGNC
Primary source
HGNC:HGNC:11240
See related
Ensembl:ENSG00000176170 MIM:603730; AllianceGenome:HGNC:11240
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPHK
Summary
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]
Expression
Ubiquitous expression in gall bladder (RPKM 4.9), esophagus (RPKM 4.2) and 25 other tissues See more
Orthologs
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Genomic context

See SPHK1 in Genome Data Viewer
Location:
17q25.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76383204..76387855)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77279777..77284428)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74379285..74383936)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene phosphoribosyl pyrophosphate synthetase associated protein 1 Neighboring gene RNA, U6 small nuclear 24, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74346967-74347514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9012 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74349963-74350827 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 43 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364234-74364734 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74364735-74365235 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9015 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74386817-74386991 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74394983-74395483 Neighboring gene ubiquitin conjugating enzyme E2 O Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74418617-74419118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74419119-74419618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74429943-74430443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74432809-74433310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74437133-74437650 Neighboring gene ribosomal protein L7 pseudogene 49 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9016 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:74449240-74449408 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12808 Neighboring gene aralkylamine N-acetyltransferase

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of sphingosine kinase 1 (SPHK1) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding PubMed 
enables D-erythro-sphingosine kinase activity  
enables D-erythro-sphingosine kinase activity PubMed 
enables D-erythro-sphingosine kinase activity  
enables DNA binding PubMed 
enables acetyltransferase activity  
enables calmodulin binding PubMed 
enables lipid binding PubMed 
enables lipid kinase activity  
enables magnesium ion binding PubMed 
enables protein binding PubMed 
enables protein phosphatase 2A binding PubMed 
enables sphingosine kinase activity PubMed 
enables sphingosine-1-phosphate receptor activity PubMed 
Items 1 - 25 of 45
Process Evidence Code Pubs
involved_in DNA biosynthetic process  
involved_in blood vessel development  
involved_in brain development  
involved_in calcium-mediated signaling PubMed 
involved_in cell population proliferation  
involved_in cellular response to growth factor stimulus  
involved_in cellular response to hydrogen peroxide  
involved_in cellular response to vascular endothelial growth factor stimulus PubMed 
involved_in inflammatory response  
involved_in intracellular signal transduction PubMed 
involved_in negative regulation of apoptotic process  
acts_upstream_of_or_within negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of apoptotic process PubMed 
involved_in negative regulation of ceramide biosynthetic process PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity PubMed 
involved_in positive regulation of NF-kappaB transcription factor activity  
involved_in positive regulation of angiogenesis PubMed 
involved_in positive regulation of cell growth PubMed 
involved_in positive regulation of cell migration PubMed 
acts_upstream_of_or_within positive regulation of fibroblast proliferation PubMed 
involved_in positive regulation of interleukin-17 production  
involved_in positive regulation of mitotic cell cycle PubMed 
involved_in positive regulation of mitotic nuclear division  
involved_in positive regulation of non-canonical NF-kappaB signal transduction PubMed 
involved_in positive regulation of p38MAPK cascade PubMed 
involved_in positive regulation of peptidyl-threonine phosphorylation PubMed 
involved_in positive regulation of protein ubiquitination PubMed 
involved_in positive regulation of smooth muscle contraction PubMed 
involved_in protein acetylation  
involved_in regulation of endocytosis PubMed 
involved_in regulation of endosomal vesicle fusion  
involved_in regulation of interleukin-1 beta production  
involved_in regulation of microglial cell activation  
involved_in regulation of neuroinflammatory response  
involved_in regulation of phagocytosis  
involved_in regulation of tumor necrosis factor-mediated signaling pathway PubMed 
involved_in response to tumor necrosis factor PubMed 
involved_in sphingoid catabolic process PubMed 
involved_in sphingolipid biosynthetic process  
involved_in sphingosine biosynthetic process  
involved_in sphingosine biosynthetic process PubMed 
involved_in sphingosine biosynthetic process PubMed 
involved_in sphingosine metabolic process PubMed 
involved_in sphingosine-1-phosphate receptor signaling pathway  
Items 1 - 25 of 45
Component Evidence Code Pubs
located_in clathrin-coated pit PubMed 
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in cytosol PubMed 
located_in early endosome membrane PubMed 
located_in endocytic vesicle  
is_active_in intracellular membrane-bounded organelle  
is_active_in membrane  
located_in nucleoplasm  
located_in nucleus  
located_in plasma membrane PubMed 
is_active_in presynapse PubMed 
is_active_in presynapse PubMed 
located_in presynapse  

General protein information

Preferred Names
sphingosine kinase 1
Names
SK 1
SPK 1
acetyltransferase SPHK1
NP_001136073.1
NP_001136074.1
NP_001342068.1
NP_068807.2
NP_892010.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001142601.2NP_001136073.1  sphingosine kinase 1 isoform 3

    See identical proteins and their annotated locations for NP_001136073.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate in-frame segment in the 5' coding region and uses a downstream start codon, compared to variant 2. Isoform 3 has a shorter N-terminus, compared to isoform 2. Variants 3, 4 and 5 encode the same isoform (3).
    Source sequence(s)
    AK022402, BC030553, DC384776
    Consensus CDS
    CCDS45785.1
    UniProtKB/Swiss-Prot
    Q8N632, Q96GK1, Q9HD92, Q9NY70, Q9NYA1, Q9NYL3
    UniProtKB/TrEMBL
    B3KVB3, Q53ZR5, Q96HV8
    Related
    ENSP00000465726.2, ENST00000592299.6
    Conserved Domains (1) summary
    PLN02958
    Location:11345
    PLN02958; diacylglycerol kinase/D-erythro-sphingosine kinase
  2. NM_001142602.2NP_001136074.1  sphingosine kinase 1 isoform 3

    See identical proteins and their annotated locations for NP_001136074.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate in-frame segment in the 5' coding region and uses a downstream start codon, compared to variant 2. Isoform 3 has a shorter N-terminus, compared to isoform 2. Variants 3, 4 and 5 encode the same isoform (3).
    Source sequence(s)
    BC030553, BP304783, DC384776
    Consensus CDS
    CCDS45785.1
    UniProtKB/Swiss-Prot
    Q8N632, Q96GK1, Q9HD92, Q9NY70, Q9NYA1, Q9NYL3
    UniProtKB/TrEMBL
    B3KVB3, Q53ZR5, Q96HV8
    Related
    ENSP00000376285.2, ENST00000392496.3
    Conserved Domains (1) summary
    PLN02958
    Location:11345
    PLN02958; diacylglycerol kinase/D-erythro-sphingosine kinase
  3. NM_001355139.2NP_001342068.1  sphingosine kinase 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    BC030553, DA482243, DC384776
    Consensus CDS
    CCDS45785.1
    UniProtKB/Swiss-Prot
    Q8N632, Q96GK1, Q9HD92, Q9NY70, Q9NYA1, Q9NYL3
    UniProtKB/TrEMBL
    B3KVB3, Q53ZR5, Q96HV8
    Conserved Domains (1) summary
    PLN02958
    Location:11345
    PLN02958; diacylglycerol kinase/D-erythro-sphingosine kinase
  4. NM_021972.4NP_068807.2  sphingosine kinase 1 isoform 1

    See identical proteins and their annotated locations for NP_068807.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) has multiple differences in the coding region, compared to variant 2. The resulting protein (isoform 1) has a shorter N-terminus and contains an additional in-frame portion of the 5' coding region, compared to isoform 2.
    Source sequence(s)
    AK022402, BC009419, BC030553, DC384776
    Consensus CDS
    CCDS59297.1
    UniProtKB/TrEMBL
    B3KVB3, Q96HV8
    Related
    ENSP00000468547.1, ENST00000590959.5
    Conserved Domains (1) summary
    cl27661
    Location:25359
    LCB5; Diacylglycerol kinase family enzyme [Lipid transport and metabolism, General function prediction only]
  5. NM_182965.3NP_892010.2  sphingosine kinase 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AK022402, BC030553, DC384776
    Consensus CDS
    CCDS11744.1
    UniProtKB/TrEMBL
    B3KVB3, Q96HV8
    Related
    ENSP00000313681.3, ENST00000323374.8
    Conserved Domains (2) summary
    PLN02958
    Location:97431
    PLN02958; diacylglycerol kinase/D-erythro-sphingosine kinase
    pfam00781
    Location:102207
    DAGK_cat; Diacylglycerol kinase catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    76383204..76387855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    77279777..77284428
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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