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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 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: PSAP
Protein SuperFamily: saposin
Gene Tree: Psap

Human
homologs
PSAP, prosaposin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 5660
neXtProt AC: NX_P07602

Human Synonyms: GLBA, SAP1

Human Chr (Location): 10q21-q22; chr10:71816298-71851325 (-)  GRCh38.p2

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 in Mice Using Psap (2)    Mutations Annotated to Human Diseases (3)   
Interactions
Psap interacts with 137 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (11 records)
Data Summary: Results (195)    Tissues (145)    Images (20)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
Northern blot 2
RT-PCR 99
cDNA source data(1554)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA PSAP ; Xenbase psap ; ZFIN psap    NEW 
Molecular
reagents
All nucleic(1559) Genomic(2) cDNA(1554) Primer pair(3)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000016474 (Evidence)
Ensembl Gene Model ENSMUSG00000004207 (Evidence)
Entrez Gene 19156 (Evidence)
UniGene 277498
DFCI TC1573612, TC1582844
DoTS DT.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
Consensus CDS Project CCDS35911.1, CCDS48567.1, CCDS48568.1
International Mouse Phenotyping Consortium Status Psap
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(256) 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:219858 Akil O, et al., Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice. J Neurosci. 2015 Feb 18;35(7):3263-75
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
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory