Gene

psap

ID
ZDB-GENE-020108-1
Name
prosaposin
Symbol
psap Nomenclature History
Previous Names
  • cb759 (1)
  • wu:fa14a06
  • wu:fb36e02
  • wu:fb58g07 (1)
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to be involved in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; regulation of lipid metabolic process; and sphingolipid metabolic process. Predicted to localize to extracellular space. Is expressed in blood; extension; peripheral olfactory organ; pleuroperitoneal region; and yolk syncytial layer. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency and combined saposin deficiency. Orthologous to several human genes including PSAP (prosaposin).
Genome Resources
Note
None
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With psap Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
atypical Gaucher's disease due to saposin c deficiency Alliance Gaucher disease, atypical 610539
combined saposin deficiency Alliance Combined SAP deficiency 611721
metachromatic leukodystrophy Alliance Metachromatic leukodystrophy due to SAP-b deficiency 249900
Krabbe disease, atypical 611722
Associated With psap Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR003119 Saposin A-type domain
Domain IPR007856 Saposin-like type B, region 1
Domain IPR008138 Saposin B type, region 2
Domain IPR008139 Saposin B type domain
Family IPR008373 Saposin
Family IPR021165 Saposin, chordata
Homologous_superfamily IPR011001 Saposin-like
Domain Details Per Protein
Protein Length Saposin Saposin A-type domain Saposin B type domain Saposin B type, region 2 Saposin, chordata Saposin-like Saposin-like type B, region 1
UniProtKB:A0A0R4ILW2 165
UniProtKB:A0A140LGJ7 208
UniProtKB:Q8UVZ4 520
UniProtKB:E7FCT1 522
UniProtKB:Q9DG82 522
UniProtKB:B8JI17 520
UniProtKB:Q6P3G7 520
UniProtKB:Q6PH48 520
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations