About   Help   FAQ
Psap
Gene Detail
 Symbol
Name
ID
Psap
prosaposin
MGI:97783
Synonyms SGP-1
Feature Type protein coding gene
Genetic Map
Chromosome 10
30.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr10:60277627-60302594 bp, + strand
From VEGA annotation of GRCm38

  24968 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37680  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Protein SuperFamily: saposin
Gene Tree: Psap

Human
homologs
Human Homolog PSAP, prosaposin
NCBI Gene ID 5660
neXtProt AC  NX_P07602
Human Synonyms  GLBA, SAP1
Human Chr (Location)  10q21-q22; chr10:71816298-71851325 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human PSAP
Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Gene trapped(4) Targeted(10)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney.
 
Human Diseases Modeled Using Mouse Psap (2)    Alleles Annotated to Human Diseases(3)   
Interactions
Psap interacts with 137 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cellular response to organic substance, developmental growth, ...
Component extracellular region, extracellular space, ...
External Resources: FuncBase
Expression
Literature Summary: (11 records)
Data Summary: Results (195)    Tissues (144)    Images (20)
Theiler Stages: 20, 22, 23, 24, 26, 28
Assay TypeResults
RNA in situ 94
Northern blot 2
RT-PCR 99
cDNA source data(1554)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(1559) Genomic(2) cDNA(1554) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000016474 (Evidence)
Ensembl Gene ModelENSMUSG00000004207 (Evidence)
Entrez Gene19156 (Evidence)
UniGene277498
DFCITC1573612, TC1582844
DoTSDT.101262799, DT.101365584, DT.101365774, DT.110590623, DT.110590715, DT.110590734, DT.94233045, DT.94285746, DT.97344527, DT.97344600, DT.99872839, DT.99872842, DT.99872886
NIA Mouse Gene IndexU011556
Consensus CDS ProjectCCDS35911.1, CCDS48567.1, CCDS48568.1
International Mouse Knockout Project StatusPsap
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016474 VEGA Gene Model | MGI Sequence Detail 24968 C57BL/6J ±  kb
transcript OTTMUST00000039727 VEGA | MGI Sequence Detail 2646 Not Applicable 
polypeptide OTTMUSP00000017725 VEGA | MGI Sequence Detail 554 Not Applicable 

For the selected sequences
All sequences(246) RefSeq(12) UniProt(23)
Polymorphisms RFLP(1) : SNPs within 2kb(247 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR008373 Saposin
InterPro IPR008139 Saposin B
InterPro IPR021165 Saposin, chordata
InterPro IPR011001 Saposin-like
InterPro IPR007856 Saposin-like type B, 1
InterPro IPR008138 Saposin-like type B, 2
InterPro IPR003119 Saposin type A
Protein Ontology PR:000031300 proactivator polypeptide
References (Earliest) J:863 Tsuda M, et al., The primary structure of mouse saposin. Biochem Biophys Res Commun. 1992 May 15;184(3):1266-72
(Latest) J:200186 Sun Y, et al., Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. PLoS One. 2013;8(3):e57560
All references(81)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13645, MGI:2143518

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/19/2014
MGI 5.19
The Jackson Laboratory