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PSAPL1 Gene

protein-coding   GIFtS: 42
GCID: GC04M007434

Prosaposin-Like 1 (Gene/Pseudogene)

(Previous name: prosaposin-like 1)
  Search for PSAPL1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Prosaposin-Like 1 (Gene/Pseudogene)1 2
Prosaposin-Like 11
Proactivator Polypeptide-Like 12
Prosaposin-Like Protein 12

External Ids:    HGNC: 331311   Entrez Gene: 7682392   Ensembl: ENSG000001785977   UniProtKB: Q6NUJ13   

Export aliases for PSAPL1 gene to outside databases

Previous GC identifers: GC04M007485 GC04M007357


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PSAPL1 Gene:
PSAPL1 (prosaposin-like 1 (gene/pseudogene)) is a protein-coding gene. An important paralog of this gene is SFTPB.

UniProtKB/Swiss-Prot: SAPL1_HUMAN, Q6NUJ1
Function: May activate the lysosomal degradation of sphingolipids (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006051.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the PSAPL1 gene promoter:
         AhR   POU6F1 (c2)   Nkx2-5   SREBP-1b   Arnt   Evi-1   Max   SREBP-1a   c-Myc   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PSAPL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PSAPL1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

PSAPL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PSAPL1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M007434:  view genomic region     (about GC identifiers)

Start:
7,432,021 bp from pter      End:
7,436,700 bp from pter
Size:
4,680 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SAPL1_HUMAN, Q6NUJ1 (See protein sequence)
Recommended Name: Proactivator polypeptide-like 1 precursor  
Size: 521 amino acids; 56627 Da
Sequence caution: Sequence=AAH68579.1; Type=Erroneous initiation; Sequence=BAC05143.1; Type=Erroneous termination;
Positions=510; Note=Translated as Trp;
Secondary accessions: A0A184 Q8N7T4

Explore the universe of human proteins at neXtProt for PSAPL1: NX_Q6NUJ1

Explore proteomics data for PSAPL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn201, Asn311
  • Modification sites at PhosphoSitePlus

  • See PSAPL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001078851.1  
    ENSEMBL proteins: 
     ENSP00000317445  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR008138 SapB_2
     IPR003119 SapA
     IPR011001 Saposin-like
     IPR007856 SapB_1
     IPR008373 Saposin

    Graphical View of Domain Structure for InterPro Entry Q6NUJ1

    ProtoNet protein and cluster: Q6NUJ1

    2 Blocks protein domains:
    IPB008139 Saposin B
    IPB008373 Saposin signature


    UniProtKB/Swiss-Prot: SAPL1_HUMAN, Q6NUJ1
    Similarity: Contains 2 saposin A-type domains
    Similarity: Contains 4 saposin B-type domains


    PSAPL1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAPL1_HUMAN, Q6NUJ1
    Function: May activate the lysosomal degradation of sphingolipids (By similarity)

    Animal Models:

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SAPL1_HUMAN, Q6NUJ1: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    lysosome2
    vacuole2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005764lysosome IEA--

    PSAPL1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PSAPL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for PSAPL1):
        Lysosome


    PSAPL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PSAPL1
    Interactions:

        Search GeneGlobe Interaction Network for PSAPL1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for PSAPL1 (ENSP000003174454) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TAF1ENSP000002760724STRING: ENSP00000276072
    TAF1LENSP000004183794STRING: ENSP00000418379
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006665sphingolipid metabolic process IEA--

    PSAPL1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PSAPL1 (SAPL1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PSAPL1 gene: 
    NM_001085382.1  

    Unigene Cluster for PSAPL1:

    Prosaposin-like 1 (gene/pseudogene)
    Hs.662523  [show with all ESTs]
    Unigene Representative Sequence: NM_001085382
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000319098(uc011bwj.2)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat PSAPL1

    Additional mRNA sequence: 

    BC034552.1 BC048325.1 BC063708.1 BC068579.1 DQ991252.1 

    2 DOTS entries:

    DT.40275065  DT.100016026 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PSAPL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PSAPL1 Expression
    About this image


    PSAPL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Hindgut
     
     Epidermis (Integumentary System)
     
     Stomach (Gastrointestinal Tract)
    PSAPL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PSAPL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.662523
        Custom PCR Arrays for PSAPL1
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PSAPL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psapl11 , 5 prosaposin-like 11, 5 73.96(n)1
    67.47(a)1
      5 (19.14 cM)5
    769431  NM_175249.31  NP_780458.21 
     362040215 
    chicken
    (Gallus gallus)
    Aves PSAP6
    --
    Uncharacterized protein
    36(a)
    31(a)
    many ↔ many
    many ↔ many
    6(11510433-11530618)
    6(11503542-11504700)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    34(a)
    1 → many
    3(48615297-48644505)
    zebrafish
    (Danio rerio)
    Actinopterygii psap6
    prosaposin
    31(a)
    1 → many
    13(4681560-4705600) ENSDARG00000013968
    fruit fly
    (Drosophila melanogaster)
    Insecta Sap-r6
    Saposin-related
    8(a)
    1 → many
    3R(26709186-26714795)


    ENSEMBL Gene Tree for PSAPL1 (if available)
    TreeFam Gene Tree for PSAPL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PSAPL1 gene
    SFTPB2  PSAP2  
    1 SIMAP similar gene for PSAPL1 using alignment to 1 protein entry:     SAPL1_HUMAN:
    PSAP

    PSAPL1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    5 SNPs for PSAPL1    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115483251,2,4
    ----see VAR_0617802 mis40--------
    rs567375821,2,4
    ----see VAR_0617822 mis40--------
    rs68502061,2,4
    ----see VAR_0518962 mis40--------
    rs37969051,2,4
    ----see VAR_0518952 mis40--------
    rs584820811,2,4
    ----see VAR_0617812 mis40--------

    HapMap Linkage Disequilibrium report for PSAPL1 (7432021 - 7436700 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PSAPL1 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508994CNV Insertion20534489
    nsv461204CNV Loss19166990
    nsv470008CNV Loss18288195
    nsv878562CNV Loss21882294
    nsv461203CNV Loss19166990
    dgv5447n71CNV Loss21882294
    nsv878565CNV Loss21882294
    nsv461205CNV Loss19166990
    nsv878560CNV Gain21882294
    nsv469758CNV Complex16826518

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PSAPL1
    DNA2.0 Custom Variant and Variant Library Synthesis for PSAPL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PSAPL1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with PSAPL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Toward a complete human genome sequence. (PubMed id 9847074)1 Sulston J.E. and Waterston R. (Genome Res. 1998)
    5. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 768239 HGNC: 33131 Ensembl:ENSG00000178597 euGenes: HUgn768239 ECgene: PSAPL1 Kegg: 768239
    H-InvDB: PSAPL1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PSAPL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PSAPL1 gene:
    Search GeneIP for patents involving PSAPL1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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