Gene Gene information from NCBI Gene database.
Entrez ID 5660
Gene name Prosaposin
Gene symbol PSAP
Synonyms (NCBI Gene)
GLBAPARK24PSAPDSAP1SAP2
Chromosome 10
Chromosome location 10q22.1
Summary 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.
23
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.
1029
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176801 9498 ENSG00000197746
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
52
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Combined PSAP deficiency Likely pathogenic; Pathogenic rs760391023, rs772826932, rs113365744, rs879116657, rs121918103, rs121918104, rs121918106, rs1842310280, rs1589446748, rs1589448124, rs2494541533, rs1554879741, rs1431844269, rs770171865 RCV001542767
RCV001542768
RCV005040390
RCV003333380
RCV005042048
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gaucher disease due to saposin C deficiency Likely pathogenic; Pathogenic rs113365744, rs121918103, rs121918105, rs121918106, rs121918108, rs121918109, rs121918110, rs1589448124, rs2494541533, rs1554879741, rs1431844269, rs770171865, rs765744298 RCV001801340
RCV005042048
RCV000014292
RCV000014294
RCV000014299
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hepatocellular carcinoma Likely pathogenic rs779384030 RCV005925450
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Krabbe disease due to saposin A deficiency Pathogenic; Likely pathogenic rs2133049150, rs113365744, rs121918103, rs1589448124, rs2494541533, rs1554879741, rs1554881272, rs1431844269, rs770171865, rs1842392331 RCV001731262
RCV005040390
RCV005042048
RCV005049337
RCV005047689
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atypical Gaucher Disease Conflicting classifications of pathogenicity; Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL GAUCHER DISEASE DUE TO SAPOSIN C DEFICIENCY Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations