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 several processes, including adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; prostate gland development; and sphingolipid metabolic process. Predicted to localize to extracellular space and lysosome. Human ortholog(s) of this gene implicated in atypical Gaucher's disease due to saposin c deficiency and combined saposin deficiency. Is expressed in blood; extension; peripheral olfactory organ; pleuroperitoneal region; and yolk syncytial layer. Orthologous to several human genes including PSAP (prosaposin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

9 figures from 4 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb759 (14 images)

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
		{Parkinson disease 24, autosomal dominant, susceptibility to}	619491

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:A0A8M6Z1K3 InterPro	303
UniProtKB:E7FCT1 InterPro	522
UniProtKB:B8JI17 InterPro	520

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	psap-201 (1) Ensembl	Havana	2409 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	psap-203 (1) Ensembl	Havana	496 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	psap-204 (1) Ensembl	Havana	623 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations