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UniProtKB - O95470 (SGPL1_HUMAN)

Entry version 178 (07 Apr 2021)
Sequence version 3 (24 Oct 2003)
Previous versions | rss
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Protein

Sphingosine-1-phosphate lyase 1

Gene

SGPL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cleaves phosphorylated sphingoid bases (PSBs), such as sphingosine-1-phosphate, into fatty aldehydes and phosphoethanolamine. Elevates stress-induced ceramide production and apoptosis (PubMed:11018465, PubMed:14570870, PubMed:24809814, PubMed:28165339). Required for global lipid homeostasis in liver and cholesterol homeostasis in fibroblasts. Involved in the regulation of pro-inflammatory response and neutrophil trafficking. Modulates neuronal autophagy via phosphoethanolamine production which regulates accumulation of aggregate-prone proteins such as APP (By similarity). Seems to play a role in establishing neuronal contact sites and axonal maintenance (By similarity).By similarity4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

pyridoxal 5'-phosphate1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=5.2 µM for sphingosine 1-phosphate1 Publication

    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: sphingolipid metabolism

    This protein is involved in the pathway sphingolipid metabolism, which is part of Lipid metabolism.3 Publications
    View all proteins of this organism that are known to be involved in the pathway sphingolipid metabolism and in Lipid metabolism.

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    GO - Biological processi

    Complete GO annotation on QuickGO ...

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionLyase
    Biological processApoptosis, Lipid metabolism, Sphingolipid metabolism
    LigandPyridoxal phosphate

    Enzyme and pathway databases

    BRENDA Comprehensive Enzyme Information System

    More...    BRENDAi    		4.1.2.27, 2681

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		O95470

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-1660661, Sphingolipid de novo biosynthesis

    UniPathway: a resource for the exploration and annotation of metabolic pathways

    More...    UniPathwayi    		UPA00222

    Chemistry databases

    SwissLipids knowledge resource for lipid biology

    More...    SwissLipidsi    		SLP:000000107

    <p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    Sphingosine-1-phosphate lyase 1Curated (EC:4.1.2.274 Publications)
    Short name:
    S1PLCurated
    Short name:
    SP-lyase 1Curated
    Short name:
    SPL 1Curated
    Short name:
    hSPL
    Alternative name(s):
    Sphingosine-1-phosphate aldolase
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:SGPL1Imported
    Synonyms:KIAA12521 Publication
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

    Organism-specific databases

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:10817, SGPL1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		603729, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_O95470

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...    VEuPathDBi    		HostDB:ENSG00000166224.16

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Topology

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 40LumenalSequence analysisAdd BLAST40
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei41 – 61Helical; Signal-anchor for type III membrane proteinSequence analysisAdd BLAST21
    Topological domaini62 – 568CytoplasmicSequence analysisAdd BLAST507

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Nephrotic syndrome 14 (NPHS14)4 Publications
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionA form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. NPHS14 is an autosomal recessive syndromic, steroid-resistant form that progresses to end-stage renal failure. Some NPHS14 patients manifest ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_079213222R → Q in NPHS14; probable disease-associated variant also found in a patient with isolated primary adrenal insufficiency; decreased protein abundance; increased aggregation; decreased sphinganine-1-phosphate aldolase activity. 3 PublicationsCorresponds to variant dbSNP:rs769259446EnsemblClinVar.1
    Natural variantiVAR_079214222R → W in NPHS14. 1 PublicationCorresponds to variant dbSNP:rs1131692255EnsemblClinVar.1
    Natural variantiVAR_081455340R → W in NPHS14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1437439236Ensembl.1
    Natural variantiVAR_079216416Y → C in NPHS14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779485098Ensembl.1
    Natural variantiVAR_079217505 – 568Missing in NPHS14. 1 PublicationAdd BLAST64
    Natural variantiVAR_079218545Missing in NPHS14; decreased protein abundance. 1 Publication1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi132E → G: No effect on the sphinganine-1-phosphate aldolase activity; no effect on protein abundance. 1 Publication1
    Mutagenesisi218C → G: Loss of sphinganine-1-phosphate aldolase activity. 1 Publication1
    Mutagenesisi317C → S: Almost no sphinganine-1-phosphate aldolase activity. 1 Publication1
    Mutagenesisi353K → L: Loss of sphinganine-1-phosphate aldolase activity. 1 Publication1

    Keywords - Diseasei

    Disease variant

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		8879

    GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

    More...    GeneReviewsi    		SGPL1

    MalaCards human disease database

    More...    MalaCardsi    		SGPL1
    MIMi617575, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000166224

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...    Orphaneti    		506334, Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA35725

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		O95470, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL3286061

    Drug and drug target database

    More...    DrugBanki    		DB00114, Pyridoxal phosphate

    DrugCentral

    More...    DrugCentrali    		O95470

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...    GuidetoPHARMACOLOGYi    		2522

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		SGPL1

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001470121 – 568Sphingosine-1-phosphate lyase 1Add BLAST568

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei353N6-(pyridoxal phosphate)lysine; alternate1
    Modified residuei353N6-acetyllysine; alternateCombined sources1
    Modified residuei3563'-nitrotyrosineCombined sources1
    Modified residuei3663'-nitrotyrosineCombined sources1
    Modified residuei564PhosphoserineCombined sources1

    Keywords - PTMi

    Acetylation, Nitration, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		O95470

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		O95470

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		O95470

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		O95470

    PaxDb, a database of protein abundance averages across all three domains of life

    More...    PaxDbi    		O95470

    PeptideAtlas

    More...    PeptideAtlasi    		O95470

    PRoteomics IDEntifications database

    More...    PRIDEi    		O95470

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		50902

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		O95470

    MetOSite database of methionine sulfoxide sites

    More...    MetOSitei    		O95470

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...    PhosphoSitePlusi    		O95470

    SwissPalm database of S-palmitoylation events

    More...    SwissPalmi    		O95470

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    <p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

    Ubiquitously expressed (PubMed:11018465, PubMed:28165343). Expressed in fetal and adult adrenal gland (at protein level) (PubMed:28165343).2 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000166224, Expressed in esophagus squamous epithelium and 226 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		O95470, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		O95470, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000166224, Low tissue specificity

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homodimer.

    1 Publication

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		114398, 126 interactors

    Protein interaction database and analysis system

    More...    IntActi    		O95470, 78 interactors

    Molecular INTeraction database

    More...    MINTi    		O95470

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000362298

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		O95470

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		O95470, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1568
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		O95470

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the group II decarboxylase family. Sphingosine-1-phosphate lyase subfamily.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG1383, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00390000000046

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_028929_1_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		O95470

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		DPHKMGL

    Database of Orthologous Groups

    More...    OrthoDBi    		517323at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		O95470

    TreeFam database of animal gene trees

    More...    TreeFami    		TF300777

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		3.40.640.10, 1 hit
    3.90.1150.10, 2 hits

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR002129, PyrdxlP-dep_de-COase
    IPR015424, PyrdxlP-dep_Trfase
    IPR015422, PyrdxlP-dep_Trfase_dom1
    IPR015421, PyrdxlP-dep_Trfase_major

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00282, Pyridoxal_deC, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF53383, SSF53383, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

    O95470-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MPSTDLLMLK AFEPYLEILE VYSTKAKNYV NGHCTKYEPW QLIAWSVVWT 
            60         70         80         90        100
    LLIVWGYEFV FQPESLWSRF KKKCFKLTRK MPIIGRKIQD KLNKTKDDIS 
           110        120        130        140        150
    KNMSFLKVDK EYVKALPSQG LSSSAVLEKL KEYSSMDAFW QEGRASGTVY 
           160        170        180        190        200
    SGEEKLTELL VKAYGDFAWS NPLHPDIFPG LRKIEAEIVR IACSLFNGGP 
           210        220        230        240        250
    DSCGCVTSGG TESILMACKA YRDLAFEKGI KTPEIVAPQS AHAAFNKAAS 
           260        270        280        290        300
    YFGMKIVRVP LTKMMEVDVR AMRRAISRNT AMLVCSTPQF PHGVIDPVPE 
           310        320        330        340        350
    VAKLAVKYKI PLHVDACLGG FLIVFMEKAG YPLEHPFDFR VKGVTSISAD 
           360        370        380        390        400
    THKYGYAPKG SSLVLYSDKK YRNYQFFVDT DWQGGIYASP TIAGSRPGGI 
           410        420        430        440        450
    SAACWAALMH FGENGYVEAT KQIIKTARFL KSELENIKGI FVFGNPQLSV 
           460        470        480        490        500
    IALGSRDFDI YRLSNLMTAK GWNLNQLQFP PSIHFCITLL HARKRVAIQF 
           510        520        530        540        550
    LKDIRESVTQ IMKNPKAKTT GMGAIYGMAQ TTVDRNMVAE LSSVFLDSLY 
           560 
    STDTVTQGSQ MNGSPKPH
    Length:568
    Mass (Da):63,524
    Last modified:October 24, 2003 - v3
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3B16FDEFC4B2FDB6
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    		Gene namesLengthAnnotation
    H7BXL7H7BXL7_HUMAN
    Sphingosine-1-phosphate lyase 1
    SGPL1
    		202Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    H0Y3V8H0Y3V8_HUMAN
    Sphingosine-1-phosphate lyase 1
    SGPL1
    		135Annotation score:

    Annotation score:1 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

    <p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence BAA86566 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti404C → A in CAA09590 (PubMed:11018465).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_04887521V → L1 PublicationCorresponds to variant dbSNP:rs12770335Ensembl.1
    Natural variantiVAR_081454184I → T Probable disease-associated variant found in patients with atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy. 1 PublicationCorresponds to variant dbSNP:rs201533115Ensembl.1
    Natural variantiVAR_079213222R → Q in NPHS14; probable disease-associated variant also found in a patient with isolated primary adrenal insufficiency; decreased protein abundance; increased aggregation; decreased sphinganine-1-phosphate aldolase activity. 3 PublicationsCorresponds to variant dbSNP:rs769259446EnsemblClinVar.1
    Natural variantiVAR_079214222R → W in NPHS14. 1 PublicationCorresponds to variant dbSNP:rs1131692255EnsemblClinVar.1
    Natural variantiVAR_081455340R → W in NPHS14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1437439236Ensembl.1
    Natural variantiVAR_079215346S → I in NPHS1; decreased protein abundance in cells of patients homozygous for the mutation; increased aggregation; decreased sphinganine-1-phosphate aldolase activity. 1 PublicationCorresponds to variant dbSNP:rs1131692256EnsemblClinVar.1
    Natural variantiVAR_081456361 – 568Missing Probable disease-associated variant found in patients with atypical form of axonal peripheral neuropathy, characterized by acute or subacute onset and episodes of recurrent mononeuropathy. 1 PublicationAdd BLAST208
    Natural variantiVAR_079216416Y → C in NPHS14; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs779485098Ensembl.1
    Natural variantiVAR_079217505 – 568Missing in NPHS14. 1 PublicationAdd BLAST64
    Natural variantiVAR_079218545Missing in NPHS14; decreased protein abundance. 1 Publication1

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...    EMBLi

    GenBank nucleotide sequence database

    More...    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...    DDBJi
    Links Updated
    		AJ011304 mRNA Translation: CAA09590.2
    AF144638 mRNA Translation: AAD44755.1
    AB033078 mRNA Translation: BAA86566.1 Different initiation.
    AK314615 mRNA Translation: BAG37181.1
    CH471083 Genomic DNA Translation: EAW54414.1
    BC052991 mRNA Translation: AAH52991.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS31216.1

    NCBI Reference Sequences

    More...    RefSeqi    		NP_003892.2, NM_003901.3
    XP_005270320.1, XM_005270263.1
    XP_011538618.1, XM_011540316.2
    XP_011538619.1, XM_011540317.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000373202; ENSP00000362298; ENSG00000166224

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		8879

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:8879

    UCSC genome browser

    More...    UCSCi    		uc001jrm.4, human

    <p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    		AJ011304 mRNA Translation: CAA09590.2
    AF144638 mRNA Translation: AAD44755.1
    AB033078 mRNA Translation: BAA86566.1 Different initiation.
    AK314615 mRNA Translation: BAG37181.1
    CH471083 Genomic DNA Translation: EAW54414.1
    BC052991 mRNA Translation: AAH52991.1
    CCDSiCCDS31216.1
    RefSeqiNP_003892.2, NM_003901.3
    XP_005270320.1, XM_005270263.1
    XP_011538618.1, XM_011540316.2
    XP_011538619.1, XM_011540317.1

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    4Q6RX-ray2.40A/B62-568[»]
    SMRiO95470
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi114398, 126 interactors
    IntActiO95470, 78 interactors
    MINTiO95470
    STRINGi9606.ENSP00000362298

    Chemistry databases

    BindingDBiO95470
    ChEMBLiCHEMBL3286061
    DrugBankiDB00114, Pyridoxal phosphate
    DrugCentraliO95470
    GuidetoPHARMACOLOGYi2522
    SwissLipidsiSLP:000000107

    PTM databases

    iPTMnetiO95470
    MetOSiteiO95470
    PhosphoSitePlusiO95470
    SwissPalmiO95470

    Genetic variation databases

    BioMutaiSGPL1

    Proteomic databases

    EPDiO95470
    jPOSTiO95470
    MassIVEiO95470
    MaxQBiO95470
    PaxDbiO95470
    PeptideAtlasiO95470
    PRIDEiO95470
    ProteomicsDBi50902

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		14941, 175 antibodies

    Genome annotation databases

    EnsembliENST00000373202; ENSP00000362298; ENSG00000166224
    GeneIDi8879
    KEGGihsa:8879
    UCSCiuc001jrm.4, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		8879
    DisGeNETi8879

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SGPL1
    GeneReviewsiSGPL1
    HGNCiHGNC:10817, SGPL1
    HPAiENSG00000166224, Low tissue specificity
    MalaCardsiSGPL1
    MIMi603729, gene
    617575, phenotype
    neXtProtiNX_O95470
    OpenTargetsiENSG00000166224
    Orphaneti506334, Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
    PharmGKBiPA35725
    VEuPathDBiHostDB:ENSG00000166224.16

    Human Unidentified Gene-Encoded large proteins database

    More...    HUGEi    		Search...

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG1383, Eukaryota
    GeneTreeiENSGT00390000000046
    HOGENOMiCLU_028929_1_1_1
    InParanoidiO95470
    OMAiDPHKMGL
    OrthoDBi517323at2759
    PhylomeDBiO95470
    TreeFamiTF300777

    Enzyme and pathway databases

    UniPathwayiUPA00222
    BRENDAi4.1.2.27, 2681
    PathwayCommonsiO95470
    ReactomeiR-HSA-1660661, Sphingolipid de novo biosynthesis

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		8879, 7 hits in 994 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...    ChiTaRSi    		SGPL1, human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		SGPL1

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...    GenomeRNAii    		8879
    PharosiO95470, Tchem

    Protein Ontology

    More...    PROi    		PR:O95470
    RNActiO95470, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000166224, Expressed in esophagus squamous epithelium and 226 other tissues
    ExpressionAtlasiO95470, baseline and differential
    GenevisibleiO95470, HS

    Family and domain databases

    Gene3Di3.40.640.10, 1 hit
    3.90.1150.10, 2 hits
    InterProiView protein in InterPro
    IPR002129, PyrdxlP-dep_de-COase
    IPR015424, PyrdxlP-dep_Trfase
    IPR015422, PyrdxlP-dep_Trfase_dom1
    IPR015421, PyrdxlP-dep_Trfase_major
    PfamiView protein in Pfam
    PF00282, Pyridoxal_deC, 1 hit
    SUPFAMiSSF53383, SSF53383, 1 hit

    ProtoNet; Automatic hierarchical classification of proteins

    More...    ProtoNeti    		Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...    MobiDBi    		Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSGPL1_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O95470
    Secondary accession number(s): B2RBD4
    , Q7Z732, Q9ULG8, Q9UN89
    <p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: October 24, 2003
    Last modified: April 7, 2021
    This is version 178 of the entry and version 3 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families
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