Reactome | UniProt:P07602 PSAP

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UniProt:P07602 PSAP Show undefined attributes

chain	signal peptide:1-16 chain:17-524 propeptide:17-59 chain:60-142 propeptide:143-194 chain:195-274 chain:195-273 propeptide:275-310 chain:311-390 propeptide:393-404 chain:405-486 propeptide:487-524
checksum	71977F7A8C9E1533
comment	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 lipid to form an activated complex, rather than by solubilizing the substrate.FUNCTION Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.FUNCTION Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).FUNCTION Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.FUNCTION Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases.SUBUNIT Saposin-B is a homodimer. Prosaposin exists as a roughly half-half mixture of monomers and disulfide-linked dimers (PubMed:10406958, PubMed:12510003, PubMed:21835174, PubMed:7730378). Monomeric prosaposin interacts (via C-terminus) with sortilin/SORT1, the interaction is required for targeting to lysosomes (PubMed:14657016, PubMed:22431521). Interacts with GRN; facilitates lysosomal delivery of progranulin from the extracellular space and the biosynthetic pathway (PubMed:26370502).INTERACTION Secreted as a fully glycosylated 70 kDa protein composed of complex glycans.ALTERNATIVE PRODUCTS Additional isoforms seem to exist.PTM The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.PTM N-linked glycans show a high degree of microheterogeneity.PTM The one residue extended Saposin-B-Val is only found in 5% of the chains.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry.MISCELLANEOUS Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine.
crossReference	[DatabaseIdentifier:12197840] PDB:8EQU [DatabaseIdentifier:12427518] RefSeq:NP_002769.1 [DatabaseIdentifier:12427519] RefSeq:NP_001035931.1 [DatabaseIdentifier:12427520] RefSeq:NP_001035930.1 [DatabaseIdentifier:12290174] Pharos - Targets:P07602 [DatabaseIdentifier:12252067] PRO:P07602 [DatabaseIdentifier:12212796] PDB:2QYP [DatabaseIdentifier:12212798] PDB:4V2O [DatabaseIdentifier:12212806] PDB:3BQP [DatabaseIdentifier:12212801] PDB:4UEX [DatabaseIdentifier:12212807] PDB:9I63 [DatabaseIdentifier:12212804] PDB:2DOB [DatabaseIdentifier:12212808] PDB:1N69 [DatabaseIdentifier:12212803] PDB:4DDJ [DatabaseIdentifier:12212813] PDB:2GTG [DatabaseIdentifier:12212797] PDB:2RB3 [DatabaseIdentifier:11499659] ENSEMBL:ENSG00000197746 [DatabaseIdentifier:11609457] ENSEMBL:ENSP00000378394 [DatabaseIdentifier:11732156] ENSEMBL:ENST00000394936 [DatabaseIdentifier:11792331] GeneCards:PSAP [DatabaseIdentifier:11808350] GlyGen:P07602 [DatabaseIdentifier:11828827] HMDB Protein:HMDBP01673 [DatabaseIdentifier:11845326] HPA:ENSG00000197746-PSAP [DatabaseIdentifier:12129966] OpenTargets:ENSG00000197746 [DatabaseIdentifier:12134758] Orphanet:PSAP [DatabaseIdentifier:12212802] PDB:9AXG [DatabaseIdentifier:12212811] PDB:6SLR [DatabaseIdentifier:12212810] PDB:3BQQ [DatabaseIdentifier:12212809] PDB:2R1Q [DatabaseIdentifier:12212800] PDB:1M12 [DatabaseIdentifier:12212812] PDB:1SN6 [DatabaseIdentifier:12212814] PDB:9AVS [DatabaseIdentifier:12212805] PDB:2R0R [DatabaseIdentifier:12212799] PDB:2Z9A
databaseName	UniProt
dbId	64134
description	recommendedName: Prosaposin alternativeName: Proactivator polypeptide component recommendedName: Saposin-A alternativeName: Protein A /component component recommendedName: Saposin-B-Val /component component recommendedName: Saposin-B alternativeName: Cerebroside sulfate activator shortName: CSAct alternativeName: Dispersin alternativeName: Sphingolipid activator protein 1 shortName: SAP-1 alternativeName: Sulfatide/GM1 activator /component component recommendedName: Saposin-C alternativeName: A1 activator alternativeName: Co-beta-glucosidase alternativeName: Glucosylceramidase activator alternativeName: Sphingolipid activator protein 2 shortName: SAP-2 /component component recommendedName: Saposin-D alternativeName: Component C alternativeName: Protein C /component
displayName	UniProt:P07602 PSAP
geneName	PSAP GLBA SAP1
identifier	P07602
isSequenceChanged	false
keyword	3D-structure Alternative splicing Direct protein sequencing Disease variant Disulfide bond Gangliosidosis Gaucher disease Glycoprotein Leukodystrophy Lipid metabolism Lysosome Metachromatic leukodystrophy Neurodegeneration Parkinson disease Parkinsonism Proteomics identification Reference proteome Repeat Secreted Signal Sphingolipid metabolism
modified	[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	PSAP
otherIdentifier	11739069_s_at 11752509_s_at 11752510_x_at 11755296_a_at 16715241 200866_PM_s_at 200866_s_at 200871_PM_s_at 200871_s_at 3293761 3293763 3293764 3293765 3293766 3293767 3293768 3293769 3293770 3293772 3293773 3293774 3293775 3293776 3293777 3293778 3293779 3293780 3293781 3293782 3293783 3293787 3293788 3293789 3293790 3293793 3293794 3293795 3293800 3293801 36795_at 5660 7934196 A_23_P12680 A_24_P309317 GE81192 GO:0002020 GO:0005515 GO:0005543 GO:0005576 GO:0005615 GO:0005764 GO:0005765 GO:0005768 GO:0005770 GO:0005886 GO:0006629 GO:0006665 GO:0007041 GO:0007193 GO:0008047 GO:0008289 GO:0010506 GO:0016020 GO:0019216 GO:0030154 GO:0035577 GO:0042802 GO:0042803 GO:0043202 GO:0060736 GO:0060742 GO:0070062 GO:0097110 GO:0098772 GO:1903771 GO:1905572 GO:1905573 GO:1905574 GO:1905575 GO:1905576 GO:1905577 HMNXSV003047545 ILMN_1749109 ILMN_2355559 J03077_s_at PH_hs_0019280 TC10001374.hg g11386146_3p_s_at g337761_3p_a_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-5336179] PSAP(326-340) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5336190] PSAP(?-?) [extracellular region] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9840336] PSAP(195-273) [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9840325] PSAP [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-351333] PSAP(60-142) [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-1605602] PSAP(311-391) [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9840328] PSAP(405-486) [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9851355] PSAP(311-391) [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6799212] PSAP(17-524) [azurophil granule membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-6806262] PSAP(17-524) [plasma membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-351338] PSAP(60-142) [extracellular region] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000197746] ENSEMBL:ENSG00000197746 PSAP [ReferenceDNASequence:12702449] UCSC:P07602 PSAP [ReferenceDNASequence:11365001] BioGPS Gene:5660 PSAP [ReferenceDNASequence:11392431] COSMIC - genes:PSAP SFTPA2 [ReferenceDNASequence:11420441] CTD Gene:5660 PSAP [ReferenceDNASequence:11430653] dbSNP Gene:5660 PSAP [ReferenceDNASequence:11824011] HGNC:9498 PSAP [ReferenceDNASequence:11903550] KEGG:hsa:5660 PSAP [ReferenceDNASequence:11994790] Monarch:5660 PSAP [ReferenceDNASequence:12078883] NCBI Gene:5660 PSAP [ReferenceDNASequence:12114574] OMIM:176801 PSAP
referenceTranscript	[ReferenceRNASequence:12609069] RefSeq:NM_002778.4 PSAP [ReferenceRNASequence:12609068] RefSeq:NM_001042465.3 PSAP [ReferenceRNASequence:12609067] RefSeq:NM_001042466.3 PSAP
schemaClass	ReferenceGeneProduct
secondaryIdentifier	SAP_HUMAN P07292 P15793 P78538 P78541 P78546 P78547 P78558 Q53Y86 Q6IBQ6 Q92739 Q92740 Q92741 Q92742
sequenceLength	524
species	[Species:48887] Homo sapiens
stId	uniprot:P07602
url	http://purl.uniprot.org/uniprot/P07602

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