Gene PSAP - ENSG00000197746 | NCBI Gene ID: 5660

Details for: PSAP

Gene ID: 5660

Symbol: PSAP

Ensembl ID: ENSG00000197746

Description: prosaposin

Associated with

Class a/1 (rhodopsin-like receptors)
(R-HSA-373076)
G alpha (i) signalling events
(R-HSA-418594)
Glycosphingolipid catabolism
(R-HSA-9840310)
Glycosphingolipid metabolism
(R-HSA-1660662)
Gpcr downstream signalling
(R-HSA-388396)
Gpcr ligand binding
(R-HSA-500792)
Hemostasis
(R-HSA-109582)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Metabolism
(R-HSA-1430728)
Metabolism of lipids
(R-HSA-556833)
Neutrophil degranulation
(R-HSA-6798695)
Peptide ligand-binding receptors
(R-HSA-375276)
Platelet activation, signaling and aggregation
(R-HSA-76002)
Platelet degranulation
(R-HSA-114608)
Response to elevated platelet cytosolic ca2+
(R-HSA-76005)
Signaling by gpcr
(R-HSA-372790)
Signal transduction
(R-HSA-162582)
Sphingolipid metabolism
(R-HSA-428157)
Adenylate cyclase-inhibiting g protein-coupled receptor signaling pathway
(GO:0007193)
Azurophil granule membrane
(GO:0035577)
Collagen-containing extracellular matrix
(GO:0062023)
Enzyme activator activity
(GO:0008047)
Epithelial cell differentiation involved in prostate gland development
(GO:0060742)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Extracellular space
(GO:0005615)
Ganglioside gm1 binding
(GO:1905573)
Ganglioside gm1 transport to membrane
(GO:1905572)
Ganglioside gm2 binding
(GO:1905574)
Ganglioside gm3 binding
(GO:1905575)
Ganglioside gp1c binding
(GO:1905577)
Ganglioside gt1b binding
(GO:1905576)
Intracellular membrane-bounded organelle
(GO:0043231)
Late endosome
(GO:0005770)
Lysosomal lumen
(GO:0043202)
Lysosomal membrane
(GO:0005765)
Lysosomal transport
(GO:0007041)
Lysosome
(GO:0005764)
Phospholipid binding
(GO:0005543)
Plasma membrane
(GO:0005886)
Positive regulation of beta-galactosidase activity
(GO:1903771)
Prostate gland growth
(GO:0060736)
Protease binding
(GO:0002020)
Protein binding
(GO:0005515)
Protein homodimerization activity
(GO:0042803)
Regulation of autophagy
(GO:0010506)
Regulation of lipid metabolic process
(GO:0019216)
Scaffold protein binding
(GO:0097110)
Sphingolipid metabolic process
(GO:0006665)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: early promyelocyte (CL0002154)
Fold Change: 5.15
Marker Score: 4119
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 4.43
Marker Score: 247557
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 4.4
Marker Score: 78143.5
Cell Name: myeloid leukocyte (CL0000766)
Fold Change: 3.66
Marker Score: 4422
Cell Name: blood cell (CL0000081)
Fold Change: 3.66
Marker Score: 42540
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 3.64
Marker Score: 9764
Cell Name: lung macrophage (CL1001603)
Fold Change: 3.59
Marker Score: 4109
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 3.58
Marker Score: 121969
Cell Name: endocardial cell (CL0002350)
Fold Change: 3.58
Marker Score: 2021
Cell Name: myelocyte (CL0002193)
Fold Change: 3.56
Marker Score: 1538
Cell Name: non-classical monocyte (CL0000875)
Fold Change: 3.55
Marker Score: 8563
Cell Name: thyroid follicular cell (CL0002258)
Fold Change: 3.48
Marker Score: 2726.5
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 3.42
Marker Score: 2919
Cell Name: renal intercalated cell (CL0005010)
Fold Change: 3.37
Marker Score: 1799
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 3.36
Marker Score: 6554
Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
Fold Change: 3.36
Marker Score: 4861
Cell Name: glycinergic neuron (CL1001509)
Fold Change: 3.33
Marker Score: 4025
Cell Name: kidney collecting duct principal cell (CL1001431)
Fold Change: 3.3
Marker Score: 8326
Cell Name: glycinergic amacrine cell (CL4030028)
Fold Change: 3.29
Marker Score: 3100
Cell Name: fibroblast of lung (CL0002553)
Fold Change: 3.28
Marker Score: 8593
Cell Name: acinar cell (CL0000622)
Fold Change: 3.23
Marker Score: 2281
Cell Name: theca cell (CL0000503)
Fold Change: 3.2
Marker Score: 2293
Cell Name: CD14-positive monocyte (CL0001054)
Fold Change: 3.19
Marker Score: 7940
Cell Name: Kupffer cell (CL0000091)
Fold Change: 3.18
Marker Score: 3176
Cell Name: bronchus fibroblast of lung (CL2000093)
Fold Change: 3.16
Marker Score: 4347
Cell Name: late promyelocyte (CL0002151)
Fold Change: 3.14
Marker Score: 787
Cell Name: reticular cell (CL0000432)
Fold Change: 3.13
Marker Score: 1143.5
Cell Name: fibroblast (CL0000057)
Fold Change: 3.11
Marker Score: 3000
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 3.09
Marker Score: 6278
Cell Name: mature astrocyte (CL0002627)
Fold Change: 3
Marker Score: 1972
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 2.99
Marker Score: 3031
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 2.98
Marker Score: 19367.5
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.97
Marker Score: 76054.5
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 2.95
Marker Score: 3155
Cell Name: myofibroblast cell (CL0000186)
Fold Change: 2.95
Marker Score: 3635.5
Cell Name: alveolar capillary type 1 endothelial cell (CL4028002)
Fold Change: 2.93
Marker Score: 7456.5
Cell Name: mature microglial cell (CL0002629)
Fold Change: 2.91
Marker Score: 1052
Cell Name: alternatively activated macrophage (CL0000890)
Fold Change: 2.91
Marker Score: 1212
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 2.91
Marker Score: 694
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 2.9
Marker Score: 15220
Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: 2.89
Marker Score: 1683
Cell Name: professional antigen presenting cell (CL0000145)
Fold Change: 2.88
Marker Score: 1485
Cell Name: stromal cell (CL0000499)
Fold Change: 2.86
Marker Score: 3356
Cell Name: endothelial cell (CL0000115)
Fold Change: 2.85
Marker Score: 2551
Cell Name: basophil (CL0000767)
Fold Change: 2.84
Marker Score: 1351.5
Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
Fold Change: 2.84
Marker Score: 1184
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 2.84
Marker Score: 7366
Cell Name: capillary endothelial cell (CL0002144)
Fold Change: 2.84
Marker Score: 3055
Cell Name: IgA plasma cell (CL0000987)
Fold Change: 2.83
Marker Score: 2409
Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
Fold Change: 2.8
Marker Score: 2966
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 2.78
Marker Score: 17709
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 2.77
Marker Score: 6769.5
Cell Name: decidual cell (CL2000002)
Fold Change: 2.77
Marker Score: 11944
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 2.76
Marker Score: 4577.5
Cell Name: endocrine cell (CL0000163)
Fold Change: 2.76
Marker Score: 1425.5
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 2.75
Marker Score: 12721
Cell Name: neutrophil (CL0000775)
Fold Change: 2.75
Marker Score: 1675
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 2.75
Marker Score: 1366.5
Cell Name: Sertoli cell (CL0000216)
Fold Change: 2.74
Marker Score: 16251.5
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 2.74
Marker Score: 20373.5
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 2.73
Marker Score: 10539.5
Cell Name: supporting cell (CL0000630)
Fold Change: 2.73
Marker Score: 5131
Cell Name: Mueller cell (CL0000636)
Fold Change: 2.72
Marker Score: 3767
Cell Name: eurydendroid cell (CL0000253)
Fold Change: 2.7
Marker Score: 1103
Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.7
Marker Score: 6122
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.69
Marker Score: 17553.5
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 2.69
Marker Score: 7422.5
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 2.68
Marker Score: 4402
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.68
Marker Score: 6104
Cell Name: ependymal cell (CL0000065)
Fold Change: 2.67
Marker Score: 932.5
Cell Name: uterine smooth muscle cell (CL0002601)
Fold Change: 2.66
Marker Score: 3467
Cell Name: elicited macrophage (CL0000861)
Fold Change: 2.65
Marker Score: 16119.5
Cell Name: podocyte (CL0000653)
Fold Change: 2.64
Marker Score: 976
Cell Name: kidney connecting tubule epithelial cell (CL1000768)
Fold Change: 2.64
Marker Score: 3736
Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: 2.64
Marker Score: 846
Cell Name: bronchial epithelial cell (CL0002328)
Fold Change: 2.64
Marker Score: 698
Cell Name: hepatoblast (CL0005026)
Fold Change: 2.62
Marker Score: 8596
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 2.61
Marker Score: 1532
Cell Name: cell in vitro (CL0001034)
Fold Change: 2.6
Marker Score: 90230
Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
Fold Change: 2.6
Marker Score: 1270
Cell Name: fibroblast of breast (CL4006000)
Fold Change: 2.6
Marker Score: 1484
Cell Name: lung secretory cell (CL1000272)
Fold Change: 2.6
Marker Score: 2319
Cell Name: adventitial cell (CL0002503)
Fold Change: 2.6
Marker Score: 642
Cell Name: enteroendocrine cell (CL0000164)
Fold Change: 2.6
Marker Score: 1346
Cell Name: pulmonary artery endothelial cell (CL1001568)
Fold Change: 2.59
Marker Score: 2226
Cell Name: microglial cell (CL0000129)
Fold Change: 2.57
Marker Score: 4681
Cell Name: nasal mucosa goblet cell (CL0002480)
Fold Change: 2.57
Marker Score: 1718
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.57
Marker Score: 28931
Cell Name: dendritic cell (CL0000451)
Fold Change: 2.57
Marker Score: 1761
Cell Name: secretory cell (CL0000151)
Fold Change: 2.56
Marker Score: 4679
Cell Name: glandular cell of esophagus (CL0002657)
Fold Change: 2.56
Marker Score: 812
Cell Name: granulocyte (CL0000094)
Fold Change: 2.56
Marker Score: 1147
Cell Name: smooth muscle cell (CL0000192)
Fold Change: 2.55
Marker Score: 1679
Cell Name: mesenchymal stem cell (CL0000134)
Fold Change: 2.55
Marker Score: 3924
Cell Name: IgG plasmablast (CL0000982)
Fold Change: 2.54
Marker Score: 700
Cell Name: type I pneumocyte (CL0002062)
Fold Change: 2.53
Marker Score: 3049
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 2.52
Marker Score: 8942.5
Cell Name: lung ciliated cell (CL1000271)
Fold Change: 2.51
Marker Score: 1193
Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
Fold Change: 2.51
Marker Score: 1944
Cell Name: granulosa cell (CL0000501)
Fold Change: 2.5
Marker Score: 25201

Hover over a box to see details here...

**Key characteristics:** - PSAP is a glycoprotein with a molecular weight of approximately 120 kDa. - It is expressed in a variety of cell types, including platelets, endothelial cells, and macrophages. - It is a key regulator of platelet aggregation by binding to glycoproteins on the surface of platelets and triggering the activation of the GPCR Galpha(i). - Activation of PSAP leads to the formation of a platelet aggregation cascade that can lead to the formation of blood clots. **Pathways and functions:** - PSAP is involved in the regulation of platelet aggregation and inflammation. - It binds to glycoproteins on the surface of platelets and triggers the activation of the GPCR Galpha(i). - Activation of PSAP leads to the formation of a platelet aggregation cascade that can lead to the formation of blood clots. - PSAP is also involved in the regulation of inflammation. - It is expressed in a variety of cell types, including platelets, endothelial cells, and macrophages. **Clinical significance:** - PSAP is a potential therapeutic target for the treatment of cardiovascular disease and stroke. - Studies have shown that PSAP inhibitors can reduce platelet aggregation and inflammation, which can improve blood flow and reduce the risk of blood clots. - PSAP inhibitors are currently being investigated in clinical trials for the treatment of cardiovascular disease and stroke.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Prosaposin

Genular Protein ID: 2006958043

Symbol: SAP_HUMAN

Name: Prosaposin

UniProtKB Accession Codes:

P07602 P07292 P15793 P78538 P78541 P78546 P78547 P78558 Q53Y86 Q6IBQ6 Q92739 Q92740 Q92741 Q92742

Database IDs:

Citations:

PubMed ID: 2515150

Title: Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats.

PubMed ID: 2515150

DOI: 10.1016/0888-7543(89)90014-1

PubMed ID: 2498298

Title: Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator.

PubMed ID: 2498298

DOI: 10.1093/oxfordjournals.jbchem.a122629

PubMed ID: 15164054

Title: The DNA sequence and comparative analysis of human chromosome 10.

PubMed ID: 15164054

DOI: 10.1038/nature02462

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2842863

Title: Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus.

PubMed ID: 2842863

DOI: 10.1126/science.2842863

PubMed ID: 1612590

Title: Structure and evolution of the human prosaposin chromosomal gene.

PubMed ID: 1612590

DOI: 10.1016/0888-7543(92)90247-p

PubMed ID: 8323276

Title: Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins).

PubMed ID: 8323276

DOI: 10.1006/abbi.1993.1328

PubMed ID: 1958198

Title: Isolation and characterization of prosaposin from human milk.

PubMed ID: 1958198

DOI: 10.1016/s0006-291x(05)81415-9

PubMed ID: 2013321

Title: The organization of the gene for the human cerebroside sulfate activator protein.

PubMed ID: 2013321

DOI: 10.1016/0014-5793(91)80308-p

PubMed ID: 2717620

Title: Saposin A: second cerebrosidase activator protein.

PubMed ID: 2717620

DOI: 10.1073/pnas.86.9.3389

PubMed ID: 8370464

Title: Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis.

PubMed ID: 8370464

DOI: 10.1016/0014-5793(93)80908-d

PubMed ID: 2825202

Title: Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor.

PubMed ID: 2825202

DOI: 10.1073/pnas.84.23.8652

PubMed ID: 2868718

Title: Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator.

PubMed ID: 2868718

DOI: 10.1016/s0006-291x(86)80518-6

PubMed ID: 3242555

Title: Complete amino-acid sequence of the naturally occurring A2 activator protein for enzymic sphingomyelin degradation: identity to the sulfatide activator protein (SAP-1).

PubMed ID: 3242555

DOI: 10.1515/bchm3.1988.369.2.1361

PubMed ID: 2209618

Title: The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein.

PubMed ID: 2209618

DOI: 10.1111/j.1432-1033.1990.tb19280.x

PubMed ID: 3442600

Title: Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant.

PubMed ID: 3442600

DOI: 10.1515/bchm3.1987.368.2.1571

PubMed ID: 2845979

Title: Saposin D: a sphingomyelinase activator.

PubMed ID: 2845979

DOI: 10.1016/s0006-291x(88)80855-6

PubMed ID: 3048308

Title: The precursor of sulfatide activator protein is processed to three different proteins.

PubMed ID: 3048308

DOI: 10.1515/bchm3.1988.369.1.317

PubMed ID: 10562467

Title: Preparation of the cerebroside sulfate activator (CSAct or saposin B) from human urine.

PubMed ID: 10562467

DOI: 10.1006/mgme.1999.2900

PubMed ID: 7730378

Title: Structural analysis of saposin C and B. Complete localization of disulfide bridges.

PubMed ID: 7730378

DOI: 10.1074/jbc.270.17.9953

PubMed ID: 10383054

Title: Prosaposin: a myelinotrophic protein that promotes expression of myelin constituents and is secreted after nerve injury.

PubMed ID: 10383054

DOI: 10.1002/(sici)1098-1136(199906)26:4<353::aid-glia9>3.3.co;2-7

PubMed ID: 10510427

Title: Cerebroside sulfate activator protein (Saposin B): chromatographic and electrospray mass spectrometric properties.

PubMed ID: 10510427

DOI: 10.1002/(sici)1096-9888(199910)34:10<1040::aid-jms863>3.0.co;2-x

PubMed ID: 11180632

Title: Structure of the asparagine-linked sugar chains of porcine kidney and human urine cerebroside sulfate activator protein.

PubMed ID: 11180632

DOI: 10.1002/1096-9888(200012)35:12<1416::aid-jms75>3.0.co;2-k

PubMed ID: 10406958

Title: Structural and membrane-binding properties of saposin D.

PubMed ID: 10406958

DOI: 10.1046/j.1432-1327.1999.00521.x

PubMed ID: 14657016

Title: The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin.

PubMed ID: 14657016

DOI: 10.1093/emboj/cdg629

PubMed ID: 12510003

Title: Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B.

PubMed ID: 12510003

DOI: 10.1016/s1046-5928(02)00597-1

PubMed ID: 19167329

Title: Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms.

PubMed ID: 19167329

DOI: 10.1016/j.cell.2008.11.047

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21835174

Title: Prosaposin sorting is mediated by oligomerization.

PubMed ID: 21835174

DOI: 10.1016/j.yexcr.2011.07.017

PubMed ID: 22431521

Title: The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting.

PubMed ID: 22431521

DOI: 10.1128/mcb.06726-11

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26370502

Title: Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.

PubMed ID: 26370502

DOI: 10.1083/jcb.201502029

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 12518053

Title: Crystal structure of saposin B reveals a dimeric shell for lipid binding.

PubMed ID: 12518053

DOI: 10.1073/pnas.0136947100

PubMed ID: 7866401

Title: Molecular genetics of metachromatic leukodystrophy.

PubMed ID: 7866401

DOI: 10.1002/humu.1380040402

PubMed ID: 2302219

Title: Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.

PubMed ID: 2302219

DOI: 10.1016/0006-291x(90)90912-7

PubMed ID: 2320574

Title: Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

PubMed ID: 2320574

DOI: 10.1073/pnas.87.7.2541

PubMed ID: 2019586

Title: Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

PubMed ID: 2019586

DOI: 10.1016/s0021-9258(20)89483-6

PubMed ID: 1371116

Title: Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.

PubMed ID: 1371116

DOI: 10.1016/s0021-9258(19)50733-5

PubMed ID: 2060627

Title: Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

PubMed ID: 2060627

DOI: 10.1016/0014-5793(91)80760-z

PubMed ID: 10196694

Title: An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

PubMed ID: 10196694

DOI: 10.1038/sj.ejhg.5200266

PubMed ID: 10682309

Title: A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

PubMed ID: 10682309

DOI: 10.1023/a:1005603014401

PubMed ID: 11309366

Title: A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.

PubMed ID: 11309366

DOI: 10.1093/hmg/10.9.927

PubMed ID: 15773042

Title: A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

PubMed ID: 15773042

DOI: 10.1016/j.ymgme.2004.10.004

PubMed ID: 17919309

Title: Non-neuronopathic Gaucher disease due to saposin C deficiency.

PubMed ID: 17919309

DOI: 10.1111/j.1399-0004.2007.00899.x

PubMed ID: 32201884

Title: Variants in saposin D domain of prosaposin gene linked to Parkinson's disease.

PubMed ID: 32201884

DOI: 10.1093/brain/awaa064

Sequence Information:

Length: 524
Mass: 58113
Checksum: 71977F7A8C9E1533
Sequence:

MYALFLLASL LGAALAGPVL GLKECTRGSA VWCQNVKTAS DCGAVKHCLQ TVWNKPTVKS 
LPCDICKDVV TAAGDMLKDN ATEEEILVYL EKTCDWLPKP NMSASCKEIV DSYLPVILDI 
IKGEMSRPGE VCSALNLCES LQKHLAELNH QKQLESNKIP ELDMTEVVAP FMANIPLLLY 
PQDGPRSKPQ PKDNGDVCQD CIQMVTDIQT AVRTNSTFVQ ALVEHVKEEC DRLGPGMADI 
CKNYISQYSE IAIQMMMHMQ PKEICALVGF CDEVKEMPMQ TLVPAKVASK NVIPALELVE 
PIKKHEVPAK SDVYCEVCEF LVKEVTKLID NNKTEKEILD AFDKMCSKLP KSLSEECQEV 
VDTYGSSILS ILLEEVSPEL VCSMLHLCSG TRLPALTVHV TQPKDGGFCE VCKKLVGYLD 
RNLEKNSTKQ EILAALEKGC SFLPDPYQKQ CDQFVAEYEP VLIEILVEVM DPSFVCLKIG 
ACPSAHKPLL GTEKCIWGPS YWCQNTETAA QCNAVEHCKR HVWN

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: PSAP

Associated with

Cells (max top 100)

Other Information

Molecular cloning of a human co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats. PubMed ID: 2515150

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator. PubMed ID: 2498298

The DNA sequence and comparative analysis of human chromosome 10. PubMed ID: 15164054

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. PubMed ID: 2842863

Structure and evolution of the human prosaposin chromosomal gene. PubMed ID: 1612590

Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). PubMed ID: 8323276

Isolation and characterization of prosaposin from human milk. PubMed ID: 1958198

The organization of the gene for the human cerebroside sulfate activator protein. PubMed ID: 2013321

Saposin A: second cerebrosidase activator protein. PubMed ID: 2717620

Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. PubMed ID: 8370464

Nucleotide sequence of cloned cDNA for human sphingolipid activator protein 1 precursor. PubMed ID: 2825202

Molecular cloning of the sphingolipid activator protein-1 (SAP-1), the sulfatide sulfatase activator. PubMed ID: 2868718

Complete amino-acid sequence of the naturally occurring A2 activator protein for enzymic sphingomyelin degradation: identity to the sulfatide activator protein (SAP-1). PubMed ID: 3242555

The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. PubMed ID: 2209618

Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant. PubMed ID: 3442600

Saposin D: a sphingomyelinase activator. PubMed ID: 2845979

The precursor of sulfatide activator protein is processed to three different proteins. PubMed ID: 3048308

Preparation of the cerebroside sulfate activator (CSAct or saposin B) from human urine. PubMed ID: 10562467

Structural analysis of saposin C and B. Complete localization of disulfide bridges. PubMed ID: 7730378

Prosaposin: a myelinotrophic protein that promotes expression of myelin constituents and is secreted after nerve injury. PubMed ID: 10383054

Cerebroside sulfate activator protein (Saposin B): chromatographic and electrospray mass spectrometric properties. PubMed ID: 10510427

Structure of the asparagine-linked sugar chains of porcine kidney and human urine cerebroside sulfate activator protein. PubMed ID: 11180632

Structural and membrane-binding properties of saposin D. PubMed ID: 10406958

The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin. PubMed ID: 14657016

Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. PubMed ID: 12510003

Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. PubMed ID: 19167329

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. PubMed ID: 19159218

Initial characterization of the human central proteome. PubMed ID: 21269460

Prosaposin sorting is mediated by oligomerization. PubMed ID: 21835174

The role of ceroid lipofuscinosis neuronal protein 5 (CLN5) in endosomal sorting. PubMed ID: 22431521

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin. PubMed ID: 26370502

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Crystal structure of saposin B reveals a dimeric shell for lipid binding. PubMed ID: 12518053

Molecular genetics of metachromatic leukodystrophy. PubMed ID: 7866401

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. PubMed ID: 2302219

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. PubMed ID: 2320574

Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. PubMed ID: 2019586

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. PubMed ID: 1371116

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. PubMed ID: 2060627

An Asn &gt; Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. PubMed ID: 10196694

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). PubMed ID: 10682309

A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. PubMed ID: 11309366

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. PubMed ID: 15773042

Non-neuronopathic Gaucher disease due to saposin C deficiency. PubMed ID: 17919309

Variants in saposin D domain of prosaposin gene linked to Parkinson's disease. PubMed ID: 32201884