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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PSAP Gene

protein-coding   GIFtS: 66
GCID: GC10M073576

Prosaposin

(Previous name: sphingolipid activator protein-1)
(Previous symbols: SAP1, GLBA)
Microbiology & Infectious Diseases Congress
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at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
prosaposin1 2
SAP11 2 3 5
GLBA1 2 3
Sphingolipid Activator Protein-11 2
Variant Gaucher Disease And Variant Metachromatic Leukodystrophy1
Proactivator Polypeptide2

External Ids:    HGNC: 94981   Entrez Gene: 56602   Ensembl: ENSG000001977467   OMIM: 1768015   UniProtKB: P076023   

Export aliases for PSAP gene to outside databases

Previous GC identifers: GC10M072354 GC10M072679 GC10M073468 GC10M072920 GC10M073246 GC10M067569


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PSAP Gene:
This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: saposins A, B, C,
and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical
placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal
compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The
precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic
activities. Mutations in this gene have been associated with Gaucher disease, Tay-Sachs disease, and
metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different
isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for PSAP Gene: 
PSAP (prosaposin) is a protein-coding gene. Diseases associated with PSAP include combined saposin deficiency, and metachromatic leukodystrophy due to sap-b deficiency, and among its related super-pathways are Response to elevated platelet cytosolic Ca2+ and Sphingolipid metabolism. GO annotations related to this gene include lipid binding and enzyme activator activity. An important paralog of this gene is PSAPL1.

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602
Function: The lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases.
Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator
proteins (coproteins)
Function: Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC
3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by
combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the
substrate
Function: Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1
gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC
3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases
Function: Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)

Gene Wiki entry for PSAP (Prosaposin) Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PSAP gene promoter:
         Bach1   JunB   Bach2   FOXO3   FOXO3b   MZF-1   JunD   FOXO4   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPSAP promoter sequence
   Search SABiosciences Chromatin IP Primers for PSAP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PSAP


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

Entrez Gene cytogenetic band: 10q21-q22   Ensembl cytogenetic band:  10q22.1   HGNC cytogenetic band: 10q21-q22

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M073576:  view genomic region     (about GC identifiers)

Start:
73,576,055 bp from pter      End:
73,611,126 bp from pter
Size:
35,072 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602 (See protein sequence)
Recommended Name: Proactivator polypeptide precursor  
Size: 524 amino acids; 58113 Da
Subunit: Saposin-B is a homodimer
Subcellular location: Lysosome
Miscellaneous: Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine
6/13 PDB 3D structures from and Proteopedia for PSAP (see all 13):
1M12 (3D)        1N69 (3D)        1SN6 (3D)        2DOB (3D)        2GTG (3D)        2QYP (3D)    
Secondary accessions: P07292 P15793 P78538 P78541 P78546 P78547 P78558 Q53Y86 Q6IBQ6 Q92739
Q92740 Q92741 Q92742
Alternative splicing: 3 isoforms:  P07602-1   P07602-2   P07602-3   

Explore the universe of human proteins at neXtProt for PSAP: NX_P07602

Explore proteomics data for PSAP at MOPED 

Post-translational modifications:

  • UniProtKB: This precursor is proteolytically processed to 4 small peptides, which are similar to each other and are
    sphingolipid hydrolase activator proteins
  • UniProtKB: N-linked glycans show a high degree of microheterogeneity
  • UniProtKB: The one residue extended Saposin-B-Val is only found in 5% of the chains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07602

  • PSAP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PSAP Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001035930.1  NP_001035931.1  NP_002769.1  

    ENSEMBL proteins: 
     ENSP00000378394   ENSP00000378392  
    Reactome Protein details: P07602
    Human Recombinant Protein Products for PSAP: 
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    Novus Biologicals PSAP Proteins
    Novus Biologicals PSAP Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PSAP 

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005739mitochondrion IEA--
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane TAS--

    PSAP for ontologies           About GeneDecksing



    PSAP Antibody Products: 
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    Cloud-Clone Corp. ELISAs for PSAP 
    Cloud-Clone Corp. CLIAs for PSAP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 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 P07602

    ProtoNet protein and cluster: P07602

    3 Blocks protein domains:
    IPB008139 Saposin B
    IPB008140 Saposin B subdomain
    IPB008373 Saposin signature


    UniProtKB/Swiss-Prot: SAP_HUMAN, P07602
    Similarity: Contains 2 saposin A-type domains
    Similarity: Contains 4 saposin B-type domains


    PSAP 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SAP_HUMAN, P07602
    Function: The lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases.
    Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator
    proteins (coproteins)
    Function: Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC
    3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by
    combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the
    substrate
    Function: Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1
    gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC
    3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases
    Function: Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)

         Genatlas biochemistry entry for PSAP:
    prosaposin,lysosomal,sphingolipid hydrolase proactivator protein processed to SAPA,SAPB,SAPC,SAPD,ordered 5'->3'
    on the precursor

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008047enzyme activator activity TAS2717620
    GO:0008289lipid binding TAS1454804
         
    PSAP for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PSAP:
     Decreased influenza A/WSN/33 r  Increased G1 DNA content 

         15/19 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Psap) (see all 19):
     behavior/neurological  cardiovascular system  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  normal  renal/urinary system 

    PSAP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PSAP: Psaptm2Ggb Psaptm1Mhor Psaptm1Suz Psaptm1Ggb

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PSAP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PSAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PSAP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PSAP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PSAP
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PSAP (see all 25):
    hsa-miR-3128 hsa-miR-3910 hsa-miR-19b-2* hsa-miR-181c hsa-miR-301a hsa-miR-28-5p hsa-miR-130b hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidPSAP 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of PSAP

    Clone
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PSAP


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PSAP About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    2Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    3Platelet activation, signaling and aggregation
    Platelet activation, signaling and aggregation0.43
    Hemostasis0.43
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/8        Reactome Pathways for PSAP (see all 8)
        Hemostasis
    Sphingolipid metabolism
    Platelet degranulation
    Glycosphingolipid metabolism
    Metabolism


    1         Kegg Pathway  (Kegg details for PSAP):
        Lysosome


    PSAP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PSAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/24 Interacting proteins for PSAP (P076022, 3 ENSP000003783944) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRP109122, 3, ENSP000002308824MINT-6797604 MINT-6797576 MINT-6797801 MINT-6797475 I2D: score=1 STRING: ENSP00000230882
    SGK223Q86YV52, 3, ENSP000003309304MINT-64847 I2D: score=4 STRING: ENSP00000330930
    SMAD2Q157962, 3, ENSP000002621604MINT-60928 I2D: score=3 STRING: ENSP00000262160
    UBE3AQ050862, 3, ENSP000003810454MINT-8276516 I2D: score=2 STRING: ENSP00000381045
    COPS6Q7L5N12, 3MINT-63423 I2D: score=5 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0006629lipid metabolic process ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0006869lipid transport TAS1454804

    PSAP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PSAP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PSAP (SAP)

    10/41 HMDB Compounds for PSAP (see all 41)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-31350885
    LysoSM(d18:0)sphinganine-1-phosphocholine (see all 2)----
    LysoSM(d18:1)C18-Sphingosine phosphocholine (see all 7)1670-26-4--
    SM(d16:1/24:1(15Z))Sphingomyelin (d16:1/24:1(15Z)) (see all 2)----
    SM(d17:1/24:0)Sphingomyelin (d17:1/24:0) (see all 2)----
    SM(d17:1/24:1(15Z))Sphingomyelin (d17:1/24:1(15Z)) (see all 2)----
    SM(d18:0/12:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:0)Sphingomyelin (see all 4)----
    SM(d18:0/14:1(9Z)(OH))C14:1-OH Sphingomyelin (see all 2)----
    SM(d18:0/16:0)Sphingomyelin (see all 4)----

    1 DrugBank Compound for PSAP    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Di-Stearoyl-3-Sn-Phosphatidylethanolamine-- --target--17139284 17016423

    10/45 Novoseek inferred chemical compound relationships for PSAP gene (see all 45)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucosylceramide 87 22 20015957 (2), 9201993 (2), 7654196 (1), 17803231 (1) (see all 14)
    sulfatide 83.3 33 14528917 (2), 1350885 (2), 11045609 (2), 8099782 (2) (see all 13)
    galactosylceramide 72.6 22 9409731 (7), 2120388 (3), 16823039 (1), 11371512 (1) (see all 6)
    dioleoyl phosphatidylserine 72.2 2 16179529 (1), 16256068 (1)
    4-methylumbelliferyl-beta-d-glucoside 71.8 1 2120388 (1)
    conduritol b epoxide 69.8 1 1704891 (1)
    ceramide 69.1 35 9204210 (4), 8203897 (3), 20132547 (3), 15345707 (2) (see all 16)
    ganglioside 68.2 50 1634229 (4), 8737244 (3), 8099782 (3), 8050611 (2) (see all 12)
    glycosphingolipid 66.9 11 10320358 (1), 11068181 (1), 20015957 (1), 16497666 (1) (see all 6)
    ccpa 66.7 8 15023355 (1), 15500982 (1), 17449687 (1), 16316990 (1) (see all 8)

    Search CenterWatch for drugs/clinical trials and news about PSAP / SAP

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PSAP gene (3 alternative transcripts): 
    NM_001042465.1  NM_001042466.1  NM_002778.2  

    Unigene Cluster for PSAP:

    Prosaposin
    Hs.523004  [show with all ESTs]
    Unigene Representative Sequence: NM_001042465
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000394936(uc001jsm.3) ENST00000495196 ENST00000493143 ENST00000394934

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate PSAP (see all 25):
    hsa-miR-3128 hsa-miR-3910 hsa-miR-19b-2* hsa-miR-181c hsa-miR-301a hsa-miR-28-5p hsa-miR-130b hsa-miR-181b
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    GenScript Custom all cDNA clones Services for PSAP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PSAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PSAP
    Sirion Biotech Customized lentivirus for stable overexpression of PSAP 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PSAP

    Additional mRNA sequence: 

    AB209776.1 AK057878.1 AK129790.1 AK223290.1 AK293672.1 AK299184.1 AK307721.1 BC001503.2 
    BC004275.1 BC007612.1 BC091483.1 BT006849.1 CR456746.1 D00422.1 J03015.1 J03077.1 
    M12710.1 M32221.1 M60255.1 M60257.1 M60258.1 M81355.1 

    24/92 DOTS entries (see all 92):

    DT.95376855  DT.91858744  DT.91812544  DT.91812575  DT.100710495  DT.100045907  DT.100710516  DT.101957950 
    DT.95377054  DT.121260822  DT.91813686  DT.100710520  DT.100710502  DT.95377087  DT.100710503  DT.100798968 
    DT.100865395  DT.100861184  DT.91813724  DT.100853080  DT.100710521  DT.100710517  DT.95376992  DT.100710504 

    24/3352 AceView cDNA sequences (see all 3352):

    BU625905 AI754788 CR594967 CA420381 BM468725 BQ030172 BE898891 BE746595 
    BX425359 BF529876 BU626521 BQ029800 BG677328 BU956620 BM042246 BM473423 
    BM556668 BU629188 M32221 BM746569 BU542819 BQ920711 CR615641 AI903010 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PSAP (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c
    SP1:                                                                    -                                         -                                       
    SP2:                                      -     -     -     -     -     -     -     -     -     -                 -                                       
    SP3:                                                                    -                                                                                 
    SP4:                                                                    -                                                                                 
    SP5:                    -                                                                                                                                 


    ECgene alternative splicing isoforms for PSAP

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PSAP expression in normal human tissues (normalized intensities)      PSAP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTTGCTAT
    PSAP Expression
    About this image


    PSAP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             ganglion/cranial   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Ureter
             visceral organ   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             mouse/organ system/cardiovascular system   

    See PSAP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PSAP

    SOURCE GeneReport for Unigene cluster: Hs.523004
        SABiosciences Custom PCR Arrays for PSAP
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PSAP gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Psap1 , 5 prosaposin1, 5 76(n)1
    68(a)1
      10 (30.02 cM)5
    191561  NM_001146121.11  NP_001139593.11 
     602776275 
    chicken
    (Gallus gallus)
    Aves PSAP1 prosaposin 65.43(n)
    59.14(a)
      395602  NM_204811.2  NP_990142.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    54(a)
    1 → many
    3(48615297-48644505)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC645412 hypothetical protein MGC64541 74.15(n)    BC054988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii psap2 prosaposin 72.59(n)   140811  AF276996.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sap-r1 Saposin-related 45.84(n)
    32.04(a)
      43662  NM_079858.3  NP_524597.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PSAP gene
    PSAPL12  SFTPB2  
    1 SIMAP similar gene for PSAP using alignment to 5 protein entries:     SAP_HUMAN (see all proteins):
    PSAPL1

    PSAP 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1057 SNPs in PSAP are shown (see all 1057)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0069444
    Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)4--see VAR_0069442 C S mis40--------
    VAR_0424414
    Gaucher disease, atypical, due to saposin C deficiency (AGD)4--see VAR_0424412 L P mis40--------
    VAR_0069454
    Gaucher disease, atypical, due to saposin C deficiency (AGD)4--see VAR_0069452 C F mis40--------
    VAR_0318994
    Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)4--see VAR_0318992 N K mis40--------
    VAR_0069434
    Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)4--see VAR_0069432 T I mis40--------
    VAR_0318234
    Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB)4--see VAR_0318232 N H mis40--------
    rs1886008831,2
    C--67570031(+) ACCCTT/GCGGCA 3 -- ut311Minor allele frequency- G:0.00EU 585
    rs78691,2
    C,F,A,H--67570074(-) ATGGCA/C/GAGCTC 6 -- ut31 ese331MN NA NS EA WA CSA EU 3591
    rs1415536391,2
    C--67570168(+) ACATGC/TAGGCA 3 -- ut310--------
    rs796624041,2
    C,F--67570190(+) CACAGC/TGCGGC 3 -- ut311Minor allele frequency- T:0.04WA 118

    HapMap Linkage Disequilibrium report for PSAP (73576055 - 73611126 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PSAP:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv895716CNV Loss21882294
    nsv831910CNV Loss17160897


    Human Gene Mutation Database (HGMD): PSAP
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing PSAP:
    Prostate Cancer
    SeqTarget long-range PCR primers for resequencing PSAP
    DNA2.0 Custom Variant and Variant Library Synthesis for PSAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176801   
    OMIM disorders: 249900  610539  611721  611722  
    UniProtKB/Swiss-Prot: SAP_HUMAN, P07602
  • Combined saposin deficiency (CSAPD) [MIM:611721]: Due to absence of all saposins, leading to a fatal
    storage disorder with hepatosplenomegaly and severe neurological involvement. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Leukodystrophy metachromatic due to saposin-B deficiency (MLD-SAPB) [MIM:249900]: An atypical form of
    metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination,
    periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include
    dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Gaucher disease, atypical, due to saposin C deficiency (AGD) [MIM:610539]: A disease characterized by
    marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta
    glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder
    characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes
    based on the presence and severity of neurological involvement. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Krabbe disease, atypical, due to saposin A deficiency (AKRD) [MIM:611722]: A disorder of
    galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of
    spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Note=Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis)

  • 20/59 diseases for PSAP (see all 59):    About MalaCards
    combined saposin deficiency    metachromatic leukodystrophy due to sap-b deficiency    metachromatic leukodystrophy, late infantile form    gaucher disease, atypical
    krabbe disease atypical due to saposin a deficiency    metachromatic leukodystrophy, adult form    metachromatic leukodystrophy due to saposin b deficiency    krabbe disease, atypical
    metachromatic leukodystrophy, juvenile form    gaucher disease, atypical, due to saposin c deficiency    leukodystrophy    metachromatic leukodystrophy
    krabbe disease    gaucher's disease    sphingolipidosis    tay-sachs disease
    farber lipogranulomatosis    lipogranulomatosis    adult neuronal ceroid lipofuscinosis    gangliosidosis

    5 diseases from the University of Copenhagen DISEASES database for PSAP:
    Metachromatic leukodystrophy     Gaucher's disease     Gangliosidosis     Krabbe disease
    Farber lipogranulomatosis

    PSAP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/39 Novoseek inferred disease relationships for PSAP gene (see all 39)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukodystrophy metachromatic 82.6 24 1689485 (2), 10196694 (2), 18693274 (2), 2302219 (2) (see all 12)
    gaucher disease 78.3 18 15856305 (2), 9225972 (2), 2110365 (1), 2225530 (1) (see all 13)
    sphingolipidoses 77.5 4 9821868 (1), 9225972 (1), 11309366 (1)
    krabbe disease 77.3 8 11371512 (3), 14572137 (2), 12810822 (1), 15773042 (1)
    sialidosis 72.1 7 1634229 (2), 8003252 (1)
    i-cell disease 71.2 2 14657016 (1), 15236333 (1)
    gangliosidosis gm1 67.8 2 2110365 (1), 10489949 (1)
    type 2 gaucher disease 65.8 3 8370580 (1), 8577053 (1)
    lysosomal storage diseases 64.5 3 11068181 (1), 14680985 (1), 16179529 (1)
    type 3 gaucher disease 60.5 2 8577053 (1)

    Genatlas disease: PSAP
    sphingolipid activator proteins 1 and 2,combined deficiency

    Genetic Association Database (GAD): PSAP
    Human Genome Epidemiology (HuGE) Navigator: PSAP (28 documents)

    Export disorders for PSAP gene to outside databases

    (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)
    About This Section

    PubMed articles for PSAP gene, integrated from 9 sources (see all 300):
    (articles sorted by number of sources associating them with PSAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Saposin A: second cerebrosidase activator protein. (PubMed id 2717620)1, 2, 3 Morimoto S....Kishimoto Y. (1989)
    2. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). (PubMed id 8323276)1, 2, 9 Hiraiwa M.... Martin B.M. (1993)
    3. Structural and membrane-binding properties of saposin D. (PubMed id 10406958)1, 2, 9 Tatti M.... Vaccaro A.M. (1999)
    4. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. (PubMed id 2320574)1, 2, 9 Kretz K.A....O'Brien J.S. (1990)
    5. Preparation of the cerebroside sulfate activator (CSAct or saposin B) from human urine. (PubMed id 10562467)1, 2, 9 Fluharty A.L.... Faull K.F. (1999)
    6. Structural analysis of saposin C and B. Complete localization of disulfide bridges. (PubMed id 7730378)1, 2, 9 Vaccaro A.M.... Pucci P. (1995)
    7. Isolation and characterization of prosaposin from human milk. (PubMed id 1958198)1, 2, 9 Kondoh K.... Kakimoto Y. (1991)
    8. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (PubMed id 2302219)1, 2, 9 Rafi M.A.... Wenger D.A. (1990)
    9. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. (PubMed id 2060627)1, 2, 9 Schnabel D.... Sandhoff K. (1991)
    10. Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PubMed id 12510003)1, 2, 9 Ahn V.E....Prive G.G. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 5660 HGNC: 9498 AceView: PSAP Ensembl:ENSG00000197746 euGenes: HUgn5660
    ECgene: PSAP Kegg: 5660 H-InvDB: PSAP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PSAP Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PSAP Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PSAP

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

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



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