Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5660
Gene name Gene Name - the full gene name approved by the HGNC.
Prosaposin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSAP
Synonyms (NCBI Gene) Gene synonyms aliases
GLBA, PARK24, PSAPD, SAP1, SAP2
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly i
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121918103 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs121918104 C>G Pathogenic Missense variant, coding sequence variant
rs121918105 C>A Pathogenic Missense variant, coding sequence variant
rs121918106 T>A,C Pathogenic Missense variant, initiator codon variant
rs121918107 T>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007122 hsa-miR-19a-3p Luciferase reporter assay 23451058
MIRT018440 hsa-miR-335-5p Microarray 18185580
MIRT020333 hsa-miR-130b-3p Sequencing 20371350
MIRT031264 hsa-miR-19b-3p Sequencing 20371350
MIRT050439 hsa-miR-23a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IPI 24872419
GO:0005515 Function Protein binding IPI 16713569, 19570996, 20709014, 22431521, 24872419, 26370502, 32296183, 32814053, 33961781
GO:0005543 Function Phospholipid binding IDA 14674747
GO:0005576 Component Extracellular region HDA 27068509
GO:0005576 Component Extracellular region IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
176801 9498 ENSG00000197746
Protein
UniProt ID P07602
Protein name Prosaposin (Proactivator polypeptide) [Cleaved into: Saposin-A (Protein A); Saposin-B-Val; Saposin-B (Cerebroside sulfate activator) (CSAct) (Dispersin) (Sphingolipid activator protein 1) (SAP-1) (Sulfatide/GM1 activator); Saposin-C (A1 activator) (Co-bet
Protein function Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic li
PDB 1M12 , 1N69 , 1SN6 , 2DOB , 2GTG , 2QYP , 2R0R , 2R1Q , 2RB3 , 2Z9A , 3BQP , 3BQQ , 4DDJ , 4UEX , 4V2O , 6SLR , 8EQU , 9AVS , 9AXG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02199 SapA 22 54 Saposin A-type domain Family
PF05184 SapB_1 61 98 Saposin-like type B, region 1 Domain
PF03489 SapB_2 104 138 Saposin-like type B, region 2 Family
PF05184 SapB_1 196 234 Saposin-like type B, region 1 Domain
PF03489 SapB_2 239 271 Saposin-like type B, region 2 Family
PF05184 SapB_1 313 350 Saposin-like type B, region 1 Domain
PF03489 SapB_2 355 388 Saposin-like type B, region 2 Family
PF05184 SapB_1 407 444 Saposin-like type B, region 1 Domain
PF03489 SapB_2 449 482 Saposin-like type B, region 2 Family
PF02199 SapA 492 524 Saposin A-type domain Family
Sequence
Sequence length 524
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Sphingolipid metabolism
Lysosome
  Platelet degranulation
Glycosphingolipid metabolism
Peptide ligand-binding receptors
G alpha (i) signalling events
Neutrophil degranulation
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Gaucher Disease Gaucher disease due to saposin C deficiency rs121918108, rs121918109, rs121918110, rs121918105, rs121918106 N/A
metachromatic leukodystrophy Metachromatic leukodystrophy rs1431844269, rs770171865, rs759960679, rs121918106, rs121918110 N/A
Parkinson disease Parkinson disease 24, autosomal dominant, susceptibility to rs1589451049, rs121918106, rs121918104 N/A
sphingolipid activator protein 1 deficiency Sphingolipid activator protein 1 deficiency rs1554880848, rs1589451049, rs1564815053, rs1431844269, rs121918107, rs121918103, rs770171865, rs759960679, rs121918104, rs1589446748, rs1589451050, rs1589448124, rs121918106 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset) N/A N/A GWAS
Beta-Galactosidase Deficiency Galactosylceramide beta-galactosidase deficiency N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Eosinophilia Eosinophilic esophagitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Stimulate 26627638
Alzheimer Disease Associate 31864418, 34374777, 37232225
Carcinoma Hepatocellular Associate 2825202
Carcinoma Pancreatic Ductal Associate 35633503
Churg Strauss Syndrome Associate 18263571
Cognition Disorders Associate 34690151
Colorectal Neoplasms Associate 39947398
Combined Saposin Deficiency Associate 19267410
Diabetic Nephropathies Associate 36211816
Diffuse Neurofibrillary Tangles with Calcification Associate 34374777