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ZIRC
ZFIN ID: ZDB-GENE-020108-1
Gene Name: prosaposin
Gene Symbol: psap
Sequence Ontology ID : SO:0000704

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Previous Names: cb759 (1), wu:fa14a06, wu:fb36e02, wu:fb58g07 (1)

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(Including Attributions)
Location: Chr: 13 Mapping Details/Browsers
Nomenclature History
AUTOMATED DESCRIPTION
Predicted to be involved in sphingolipid metabolic process. Predicted to localize to the lysosome. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency.  ...
GENE EXPRESSION
All Expression Data: 8 figures from 3 publications
Directly Submitted Expression Data: 6 figures (14 images) from Thisse et al., 2001 [cb759]
Wild-type Stages, Structures: Gastrula:50%-epiboly (5.25h-5.66h) to Larval:Day 4 (96.0h-120.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa18635 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa42131 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH psap HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    atypical Gaucher's disease due to saposin c deficiency Gaucher disease, atypical 610539
    metachromatic leukodystrophy Metachromatic leukodystrophy due to SAP-b deficiency 249900
    Krabbe disease, atypical 611722
    Combined SAP deficiency 611721
    DISEASE ASSOCIATED WITH psap VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway (more)
    Cellular Component extracellular space (more)
    Molecular Function enzyme activator activity (more)
    GO Terms (all 11)
    TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA psap-201 (1) 2409
    psap-203 (1) 496
    psap-204 (1) 623
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM psap No data available
    MARKER RELATIONSHIPS
    psapContained in: [BAC] CH211-199I24 (1) (order this), DKEY-37H18 (1) (order this)
    psapContains: [SNP] rs3728529 (1), rs3728530 (1)
    psapEncodes: [EST] cb759 (1), fa14a06, fb36e02, fb58g07 (1)
    [cDNA] MGC:65941 (1) (order this), MGC:77888 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131883 (1) 2402bp
    Genomic GenBank:CR388420 (1) 121689bp
    Select Tool
    Polypeptide UniProtKB:E7FCT1 (1) 522aa
    Sequence Clusters UniGene:75922 (1)
    Sequence Information (all 40)
    ORTHOLOGY for psap (Chr: 13)
    CITATIONS (28)