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    SGPP1 sphingosine-1-phosphate phosphatase 1 [ Homo sapiens (human) ]

    Gene ID: 81537, updated on 10-Dec-2024

    Summary

    Official Symbol
    SGPP1provided by HGNC
    Official Full Name
    sphingosine-1-phosphate phosphatase 1provided by HGNC
    Primary source
    HGNC:HGNC:17720
    See related
    Ensembl:ENSG00000126821 MIM:612826; AllianceGenome:HGNC:17720
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPP-1; SPPase1
    Summary
    Sphingosine-1-phosphate (S1P) is a bioactive sphingolipid metabolite that regulates diverse biologic processes. SGPP1 catalyzes the degradation of S1P via salvage and recycling of sphingosine into long-chain ceramides (Mandala et al., 2000 [PubMed 10859351]; Le Stunff et al., 2007 [PubMed 17895250]).[supplied by OMIM, Jun 2009]
    Expression
    Ubiquitous expression in kidney (RPKM 17.3), lymph node (RPKM 14.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SGPP1 in Genome Data Viewer
    Location:
    14q23.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (63684216..63728065, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (57891616..57935465, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (64150934..64194783, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370532 Neighboring gene uncharacterized LOC124903437 Neighboring gene uncharacterized LOC124903439 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:64129164-64130164 Neighboring gene uncharacterized LOC124903327 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8514 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:64193929-64194430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8516 Neighboring gene RNA, U7 small nuclear 116 pseudogene Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genetic determinants of circulating sphingolipid concentrations in European populations.
    EBI GWAS Catalog
    Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ER to Golgi ceramide transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of epidermis development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of keratinocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sphinganine-1-phosphate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sphingolipid catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in sphingosine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sphingosine-1-phosphate phosphatase 1
    Names
    hSPP1
    hSPPase1
    sphingosine-1-phosphatase 1
    sphingosine-1-phosphate phosphohydrolase 1
    spp1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_030791.4NP_110418.1  sphingosine-1-phosphate phosphatase 1

      See identical proteins and their annotated locations for NP_110418.1

      Status: VALIDATED

      Source sequence(s)
      AJ293294, BC063839, HY008514
      Consensus CDS
      CCDS9760.1
      UniProtKB/Swiss-Prot
      B2RAH0, Q9BX95, Q9H189
      Related
      ENSP00000247225.6, ENST00000247225.7
      Conserved Domains (1) summary
      cd03388
      Location:126275
      PAP2_SPPase1; PAP2_like proteins, sphingosine-1-phosphatase subfamily. Sphingosine-1-phosphatase is an intracellular enzyme located in the endoplasmic reticulum, which regulates the level of sphingosine-1-phosphate (S1P), a bioactive lipid. S1P acts as a second ...

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      63684216..63728065 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654721.1 Reference GRCh38.p14 PATCHES

      Range
      20168..64017 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      57891616..57935465 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)