Details for: PSAP

Gene ID: 5660

Symbol: PSAP

Ensembl ID: ENSG00000197746

Description: prosaposin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 852.3566
    Cell Significance Index: -132.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 523.4515
    Cell Significance Index: -132.7700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 354.9966
    Cell Significance Index: -146.2400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 318.3698
    Cell Significance Index: -129.3400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 302.8874
    Cell Significance Index: -143.0000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 271.7030
    Cell Significance Index: -139.7600
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 213.6740
    Cell Significance Index: -143.3800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 136.3089
    Cell Significance Index: -130.1400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 113.1833
    Cell Significance Index: -139.5500
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 47.1805
    Cell Significance Index: -126.3900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 46.6570
    Cell Significance Index: -143.3100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 36.6721
    Cell Significance Index: -144.7100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 28.6212
    Cell Significance Index: -62.6400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 15.8741
    Cell Significance Index: 293.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.7446
    Cell Significance Index: 249.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.7353
    Cell Significance Index: 512.9600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.3722
    Cell Significance Index: 432.3000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 3.2305
    Cell Significance Index: 86.2600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 2.5184
    Cell Significance Index: 66.2200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.3966
    Cell Significance Index: 68.7000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.3901
    Cell Significance Index: 178.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.2963
    Cell Significance Index: 413.9500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.0512
    Cell Significance Index: 1120.2300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.0469
    Cell Significance Index: 251.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 2.0144
    Cell Significance Index: 93.9200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.9179
    Cell Significance Index: 384.7300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.5357
    Cell Significance Index: 198.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.3959
    Cell Significance Index: 277.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.3887
    Cell Significance Index: 498.0900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.3219
    Cell Significance Index: 25.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.2970
    Cell Significance Index: 60.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.2142
    Cell Significance Index: 32.5400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0123
    Cell Significance Index: 447.5500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.9683
    Cell Significance Index: 165.3400
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.8970
    Cell Significance Index: 5.2700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.6273
    Cell Significance Index: 11.0900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5944
    Cell Significance Index: 30.9600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4460
    Cell Significance Index: 12.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4056
    Cell Significance Index: 27.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3037
    Cell Significance Index: 8.7500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2291
    Cell Significance Index: 14.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.1846
    Cell Significance Index: 135.3400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1748
    Cell Significance Index: 28.4300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1241
    Cell Significance Index: 233.6400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1033
    Cell Significance Index: 3.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0957
    Cell Significance Index: 9.7800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0776
    Cell Significance Index: 49.2600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0510
    Cell Significance Index: 38.6300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0329
    Cell Significance Index: 3.2500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0487
    Cell Significance Index: -0.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0500
    Cell Significance Index: -92.2200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0621
    Cell Significance Index: -46.0000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0699
    Cell Significance Index: -107.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0738
    Cell Significance Index: -100.3500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0774
    Cell Significance Index: -3.5100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1302
    Cell Significance Index: -2.8200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1366
    Cell Significance Index: -85.3100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1848
    Cell Significance Index: -104.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1976
    Cell Significance Index: -89.6900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.2075
    Cell Significance Index: -39.4900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.2266
    Cell Significance Index: -26.7200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2452
    Cell Significance Index: -17.3400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.2495
    Cell Significance Index: -3.2000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3105
    Cell Significance Index: -65.3900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3518
    Cell Significance Index: -3.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.4462
    Cell Significance Index: -128.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4509
    Cell Significance Index: -65.5400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5043
    Cell Significance Index: -57.5600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.5426
    Cell Significance Index: -19.0700
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.5842
    Cell Significance Index: -3.6300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.6696
    Cell Significance Index: -10.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.6877
    Cell Significance Index: -80.1400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.7331
    Cell Significance Index: -83.9900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7585
    Cell Significance Index: -39.4000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.7963
    Cell Significance Index: -61.1100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.8975
    Cell Significance Index: -15.3800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.9440
    Cell Significance Index: -52.9700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.0011
    Cell Significance Index: -64.5900
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -1.0546
    Cell Significance Index: -8.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.3159
    Cell Significance Index: -137.0200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.3541
    Cell Significance Index: -33.8500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -1.3695
    Cell Significance Index: -40.2200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.5685
    Cell Significance Index: -44.7600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.5866
    Cell Significance Index: -125.6600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.5952
    Cell Significance Index: -70.5600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.6124
    Cell Significance Index: -43.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.6209
    Cell Significance Index: -45.3000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.8132
    Cell Significance Index: -125.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.8707
    Cell Significance Index: -39.8400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.8713
    Cell Significance Index: -117.9500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -2.0852
    Cell Significance Index: -78.9600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.3249
    Cell Significance Index: -142.5400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -2.4056
    Cell Significance Index: -58.7000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -2.5416
    Cell Significance Index: -53.2000
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -2.5633
    Cell Significance Index: -65.4900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -2.5656
    Cell Significance Index: -61.5300
  • Cell Name: peg cell (CL4033014)
    Fold Change: -2.6087
    Cell Significance Index: -60.2700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -2.8534
    Cell Significance Index: -91.3900
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -2.9290
    Cell Significance Index: -34.9200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -3.0841
    Cell Significance Index: -90.8400

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Prosaposin is a multifunctional protein that plays a pivotal role in the regulation of immune responses, particularly in the context of innate immunity. It is primarily expressed in myeloid cells, such as classical monocytes and neutrophils, which are essential components of the innate immune system. The protein is also found in other cell types, including fibroblasts, endothelial cells, and epithelial cells, highlighting its broad range of cellular expression. One of the most notable aspects of prosaposin is its ability to regulate autophagy, a critical cellular process involved in the degradation and recycling of cellular components. Autophagy plays a crucial role in maintaining cellular homeostasis, and dysregulation of this process has been implicated in various diseases, including cancer and neurodegenerative disorders. **Pathways and Functions** Prosaposin is involved in a wide range of cellular signaling pathways, including: 1. **G protein-coupled receptor signaling pathway**: Prosaposin is a ligand for G protein-coupled receptors (GPCRs), which are a family of receptors that respond to a variety of extracellular signals, including hormones, neurotransmitters, and growth factors. 2. **Autophagy regulation**: Prosaposin plays a critical role in regulating autophagy, a process that involves the degradation and recycling of cellular components. 3. **Lipid metabolism**: Prosaposin is involved in the regulation of lipid metabolism, including the breakdown and synthesis of sphingolipids and glycosphingolipids. 4. **Immune system regulation**: Prosaposin is expressed in myeloid cells and plays a role in regulating immune responses, including the activation of neutrophils and the regulation of autophagy. **Clinical Significance** Dysregulation of prosaposin has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: Prosaposin has been shown to play a role in the regulation of autophagy, and dysregulation of this process has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Cancer**: Prosaposin has been shown to play a role in regulating autophagy and lipid metabolism, and dysregulation of these processes has been implicated in cancer. 3. **Inflammatory disorders**: Prosaposin has been shown to play a role in regulating immune responses, and dysregulation of this process has been implicated in inflammatory disorders, such as rheumatoid arthritis and asthma. In conclusion, the prosaposin gene plays a critical role in regulating various cellular processes, including immune responses, lipid metabolism, and autophagy. Dysregulation of this gene has been implicated in various diseases, highlighting the importance of further research into the mechanisms by which prosaposin regulates cellular processes and the potential therapeutic applications of this gene.

Genular Protein ID: 2006958043

Symbol: SAP_HUMAN

Name: Prosaposin

UniProtKB Accession Codes:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.