About   Help   FAQ
Psap Gene Detail
Summary
  • Symbol
    Psap
  • Name
    prosaposin
  • Synonyms
    SGP-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97783
    NCBI Gene: 19156
  • Alliance
    gene page
  • Transcription Start Sites
    69 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:60113449-60138376 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 30.02 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    800 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_97783
 protein coding gene Chr10:60113436-60138379 (+)
129S1/SvImJ MGP_129S1SvImJ_G0017267
 protein coding gene Chr10:59504202-59529152 (+)
A/J MGP_AJ_G0017245
 protein coding gene Chr10:57759066-57784001 (+)
AKR/J MGP_AKRJ_G0017205
 protein coding gene Chr10:59262813-59289434 (+)
BALB/cJ MGP_BALBcJ_G0017205
 protein coding gene Chr10:57841701-57867378 (+)
C3H/HeJ MGP_C3HHeJ_G0017028
 protein coding gene Chr10:59180673-59205595 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017663
 protein coding gene Chr10:61635263-61662264 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015354
 protein coding gene Chr10:54750899-54775804 (+)
CAST/EiJ MGP_CASTEiJ_G0016599
 protein coding gene Chr10:59133221-59158784 (+)
CBA/J MGP_CBAJ_G0017000
 protein coding gene Chr10:63867347-63892456 (+)
DBA/2J MGP_DBA2J_G0017105
 protein coding gene Chr10:57060241-57085510 (+)
FVB/NJ MGP_FVBNJ_G0017099
 protein coding gene Chr10:56295509-56321933 (+)
LP/J MGP_LPJ_G0017180
 protein coding gene Chr10:59893281-59921971 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0017127
 protein coding gene Chr10:66338157-66364777 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017701
 protein coding gene Chr10:59071153-59096124 (+)
PWK/PhJ MGP_PWKPhJ_G0016382
 protein coding gene Chr10:56868868-56894152 (+)
SPRET/EiJ MGP_SPRETEiJ_G0016165
 protein coding gene Chr10:58407935-58433156 (+)
WSB/EiJ MGP_WSBEiJ_G0016663
 protein coding gene Chr10:58991357-59019925 (+)



Homology
more
  • Human Ortholog
    PSAP, prosaposin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSAP, prosaposin
  • Synonyms
    GLBA, PARK24, PSAPD, SAP1, SAP2
  • Links
    NCBI Gene ID: 5660
    neXtProt AC: NX_P07602
    UniProt: P07602

  • Chr Location
    10q22.1; chr10:71816298-71851251 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Psap mouse models; 3 with human PSAP associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    141 phenotypes from 10 alleles in 10 genetic backgrounds
    1 phenotype from multigenic genotypes
    60 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    85
  • GO References
    26
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    982
  • Tissues
    207
  • cDNA Data
    1556
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000004207 Ensembl Gene Model | MGI Sequence Detail 24928 C57BL/6J ±  kb
    transcript ENSMUST00000179238 Ensembl | MGI Sequence Detail 2657 Not Applicable  
    polypeptide ENSMUSP00000137476 Ensembl | MGI Sequence Detail 557 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1563
      Genomic 2
      cDNA 1556
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-13645, MGI:2143518
    References
    more
    • Summaries
      All 117
      Developmental Gene Expression 15
      Diseases 5
      Gene Ontology 26
      Phenotypes 60
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:342663 Watanabe T, et al., Genetic ablation of Saposin-D in Krabbe disease eliminates psychosine accumulation but does not significantly improve demyelination. J Neurochem. 2023 Aug;166(4):720-746
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory