AutismKB 2.0

Annotation Details for SPHK1


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Basic Information Top
Gene Symbol:SPHK1 ( SPHK )
Gene Full Name: sphingosine kinase 1
Band: 17q25.2
Quick LinksEntrez ID:8877; OMIM: 603730; Uniprot ID:SPHK1_HUMAN; ENSEMBL ID: ENSG00000176170; HGNC ID: 11240
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005737IDA-cytoplasm15623571
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol10863092
GO:0005886IDA-plasma membrane19854831
GO ID Evidence Qualifier GO_term References
GO:0000287IDA-magnesium ion binding10947957
GO:0000287ISS-magnesium ion binding-
GO:0003677IDA-DNA binding12393916
GO:0003951IEA-NAD+ kinase activity-
GO:0005515IPI-protein binding12080051
GO:0005516IDA-calmodulin binding10947957
GO:0005524IDA-ATP binding12393916
GO:0008481IDA-sphinganine kinase activity12393916
GO:0008481TAS-sphinganine kinase activity-
GO:0017050IDA-D-erythro-sphingosine kinase activity10863092
GO:0017050TAS-D-erythro-sphingosine kinase activity-
GO:0038036IMP-sphingosine-1-phosphate receptor activity23106337
GO:0051721IPI-protein phosphatase 2A binding21075214
GO ID Evidence Qualifier GO_term References
GO:0001568IEA-blood vessel development-
GO:0003376IEA-sphingosine-1-phosphate signaling pathway-
GO:0006457TAS-protein folding-
GO:0006670IDA-sphingosine metabolic process20577214
GO:0006954IEA-inflammatory response-
GO:0007165TAS-signal transduction10751414
GO:0007420IEA-brain development-
GO:0010800IMP-positive regulation of peptidyl-threonine phosphorylation23106337
GO:0010803IDA-regulation of tumor necrosis factor-mediated signaling pathway20577214
GO:0019722IDA-calcium-mediated signaling10947957
GO:0030148TAS-sphingolipid biosynthetic process-
GO:0030307IDA-positive regulation of cell growth12441135
GO:0030335IDA-positive regulation of cell migration12441135
GO:0031398IDA-positive regulation of protein ubiquitination20577214
GO:0032651IEA-regulation of interleukin-1 beta production-
GO:0035556TAS-intracellular signal transduction10947957
GO:0042346IMP-positive regulation of NF-kappaB import into nucleus20577214
GO:0043066IDA-negative regulation of apoptotic process15623571
GO:0043066TAS-negative regulation of apoptotic process10947957
GO:0045766IDA-positive regulation of angiogenesis12441135
GO:0045931IDA-positive regulation of mitotic cell cycle12441135
GO:0045987IDA-positive regulation of smooth muscle contraction12847068
GO:0046512IGI-sphingosine biosynthetic process23106337
GO:0046512IMP-sphingosine biosynthetic process23106337
GO:0046521NAS-sphingoid catabolic process10863092
GO:0046834IEA-lipid phosphorylation-
GO:0048146IDA-positive regulation of fibroblast proliferation15623571
GO:0051092IMP-positive regulation of NF-kappaB transcription factor activity20577214
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SPHK1TRAF211439611777919 Affinity Capture-Western; Reconstituted Complex
SPHK1TRAF211303811777919 Affinity Capture-Western; Reconstituted Complex
RPS6KC1SPHK111439612077123 Affinity Capture-Western
RPS6KC1SPHK111781012077123 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1316649
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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