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Genes
PSAP
Gene - PSAP
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]