full name
prosaposin

synonyms
GLBA, SAP1, PSAP, ENSG00000197746

HGNC
HGNC:9498

Entrez Gene
Gene:5660

ENSEMBL
ENSG00000197746

location
chr: 10
start: 73576055
stop: 73611082
strand: -

OMIM
OMIM:176801: PSAP (Autosomal recessive inheritance)
OMIM:611721: Combined SAP deficiency
OMIM:610539: Gaucher disease, atypical
OMIM:611722: Krabbe disease, atypical
OMIM:249900: Metachromatic leukodystrophy due to SAP-b deficiency

transcripts
NM_002778.2
NM_001042466.1
NM_001042465.1

pathways
Class A/1 (Rhodopsin-like receptors) [NCBI:1269545] [REACTOME:R-HSA-373076] [PUBMED:16902930]
GPCR ligand binding [NCBI:1269544] [REACTOME:R-HSA-500792] [PUBMED:15251227]
Glycosphingolipid metabolism [NCBI:1270099] [REACTOME:R-HSA-1660662] [PUBMED:20919643]
Hemostasis [NCBI:1269340] [REACTOME:R-HSA-109582]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Innate Immune System [NCBI:1269203] [REACTOME:R-HSA-168249]
Lysosome [NCBI:99052] [KEGG:hsa04142] [PUBMED:2943218] [PUBMED:12628346] [PUBMED:1883197] [PUBMED:18635948] [PUBMED:15987739]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Neutrophil degranulation [NCBI:1457780] [REACTOME:R-HSA-6798695] [PUBMED:20338884] [PUBMED:1378856] [PUBMED:17627888] [PUBMED:23650620] [PUBMED:8692836]
Peptide ligand-binding receptors [NCBI:1269546] [REACTOME:R-HSA-375276] [PUBMED:14576899] [PUBMED:10977869] [PUBMED:16918325] [PUBMED:16847439] [PUBMED:17293890] [PUBMED:15734727] [PUBMED:12895595] [PUBMED:17604107] [PUBMED:14507421] [PUBMED:12432945] [PUBMED:16612131]
Platelet activation, signaling and aggregation [NCBI:1269350] [REACTOME:R-HSA-76002] [PUBMED:16543958] [PUBMED:8704248] [PUBMED:2018971] [PUBMED:1672265] [PUBMED:17059469] [PUBMED:12681240] [PUBMED:12411949] [PUBMED:11511514]
Platelet degranulation [NCBI:1269367] [REACTOME:R-HSA-114608] [PUBMED:14630798]
Response to elevated platelet cytosolic Ca2+ [NCBI:1269365] [REACTOME:R-HSA-76005] [PUBMED:8424766]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by GPCR [NCBI:1269543] [REACTOME:R-HSA-372790] [PUBMED:16902930] [PUBMED:10202136] [PUBMED:18043707]
Sphingolipid metabolism [NCBI:82994] [KEGG:hsa00600] [NCBI:1270097] [REACTOME:R-HSA-428157] [PUBMED:11305904] [PUBMED:10652340] [PUBMED:12011104] [PUBMED:10366774] [PUBMED:8457204] [PUBMED:18165232] [PUBMED:1495423] [PUBMED:18216770]