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

Gene ID: 81537, updated on 4-Jan-2025

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
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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: 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?

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

General gene information

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in ER to Golgi ceramide transport PubMed 
involved_in extrinsic apoptotic signaling pathway  
involved_in intrinsic apoptotic signaling pathway  
involved_in phospholipid dephosphorylation  
involved_in regulation of epidermis development  
involved_in regulation of keratinocyte differentiation  
involved_in sphinganine-1-phosphate metabolic process  
involved_in sphingolipid catabolic process  
involved_in sphingosine metabolic process  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane  
located_in endoplasmic reticulum membrane  
located_in plasma membrane  

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)

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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_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)
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