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PSAP (prosaposin)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5660
Gene nameGene Name - the full gene name approved by the HGNC.
Prosaposin
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PSAP
SynonymsGene synonyms aliases
GLBA, PARK24, PSAPD, SAP1, SAP2
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0002576 Process Platelet degranulation TAS
GO:0004565 Function Beta-galactosidase activity IDA 1454804
GO:0005515 Function Protein binding IPI 16713569, 20709014, 22431521, 24872419, 26370502, 32296183, 32814053
GO:0005543 Function Phospholipid binding IDA 14674747
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Sphingolipid metabolism
Lysosome
  Platelet degranulation
Glycosphingolipid metabolism
Peptide ligand-binding receptors
G alpha (i) signalling events
Neutrophil degranulation
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma Childhood asthma rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283 23829686
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression Developmental regression rs1224421127
Unknown
Disease name Disease term dbSNP ID References
Bowel incontinence Fecal Incontinence
Central nervous system demyelination Central nervous system demyelination
Cholecystitis Cholecystitis
Clonic seizures Generalized clonic seizures

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