PSAP - prosaposin Gene
Also Known as GLBA; SAP1; SAP2; PSAPD; PARK24
Species: Homo sapiens
About PSAP
This gene has 4 transcripts (splice variants), 228 orthologues, 2 paralogues and is associated with 12 phenotypes. Ubiquitous expression in spleen (RPKM 523.6), gall bladder (RPKM 491.5) and 25 other tissues.
Summary
This gene encodes a highly conserved preproprotein that is proteolytically processed to generate four main cleavage products including saposins A, B, C, and D. Each domain of the precursor protein is approximately 80 amino acid residues long with nearly identical placement of cysteine residues and glycosylation sites. Saposins A-D localize primarily to the lysosomal compartment where they facilitate the catabolism of glycosphingolipids with short oligosaccharide groups. The precursor protein exists both as a secretory protein and as an integral membrane protein and has neurotrophic activities. Mutations in this gene have been associated with Gaucher disease and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PSAP Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042465.3 | NP_001035930.1 | prosaposin isoform b preproprotein |
| NM_001042466.3 | NP_001035931.1 | prosaposin isoform c preproprotein |
| NM_002778.4 | NP_002769.1 | prosaposin isoform a preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables ganglioside GM1 binding |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| enables ganglioside GM2 binding |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| enables ganglioside GM3 binding |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| enables ganglioside GP1c binding |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| enables ganglioside GT1b binding |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
18462685 | GOA |
| enables phospholipid binding |
IDA
IDA: Inferred from direct assay
|
14674747 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
24872419 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16713569 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
18462685 | GOA |
| enables scaffold protein binding |
IPI
IPI: Inferred from physical interaction
|
23555801 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in ganglioside GM1 transport to membrane |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| involved in lysosomal transport |
IDA
IDA: Inferred from direct assay
|
26370502 | GOA |
| involved in lysosomal transport |
IMP
IMP: Inferred from mutant phenotype
|
28541286 | GOA |
| involved in positive regulation of beta-galactosidase activity |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
1454804 | GOA |
| located in late endosome |
IDA
IDA: Inferred from direct assay
|
26370502 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
22431521 | GOA |
PSAP Protein Structure
SapA: Saposin A-type domain (21 - 54)
SapB_1: Saposin-like type B, region 1 (61 - 98)
SapB_2: Saposin-like type B, region 2 (105 - 138)
SapB_1: Saposin-like type B, region 1 (195 - 234)
SapB_2: Saposin-like type B, region 2 (238 - 271)
SapB_1: Saposin-like type B, region 1 (313 - 350)
SapB_2: Saposin-like type B, region 2 (354 - 388)
SapB_1: Saposin-like type B, region 1 (407 - 444)
SapB_2: Saposin-like type B, region 2 (449 - 482)
SapA: Saposin A-type domain (491 - 524)
- 0
- 100
- 200
- 300
- 400
- 500
- 524 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
prosaposin |
|
PSAP Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
PSAP | P07602 | PEX5 | Homo sapiens | P50542-3 | 32296183 | |
|
Intra
|
PSAP | P07602 | PEX5 | Homo sapiens | P50542-3 | 32296183 | |
|
Intra
|
PSAP | P07602 | PEX5 | Homo sapiens | P50542-3 | 32296183 | |
|
Intra
|
PSAP | P07602 | ZBED1 | Homo sapiens | O96006 | 16713569 | |
|
Intra
|
PSAP | P07602 | ZBED1 | Homo sapiens | O96006 | 32296183 | |
|
Intra
|
PSAP | P07602 | ZBED1 | Homo sapiens | O96006 | 32296183 | |
|
Intra
|
PSAP | P07602 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
PSAP | P07602 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
PSAP | P07602 | APPBP2 | Homo sapiens | Q92624 | 32296183 | |
|
Intra
|
PSAP | P07602 | GRN | Homo sapiens | P28799 | 26370502 | |
|
Intra
|
PSAP | P07602 | LYN | Homo sapiens | P07948 | 32814053 | |
|
Intra
|
PSAP | P07602 | LYN | Homo sapiens | P07948 | 32814053 | |
|
Intra
|
PSAP | P07602 | LYN | Homo sapiens | P07948 | 32814053 | |
|
Intra
|
PSAP | P07602 | CSNK1D | Homo sapiens | P48730-2 | 32814053 | |
|
Intra
|
PSAP | P07602 | CSNK1D | Homo sapiens | P48730-2 | 32814053 | |
|
Intra
|
PSAP | P07602 | CSNK1D | Homo sapiens | P48730-2 | 32814053 |
Recombinant PSAP Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P76553 | PSAP/Prosaposin Protein, Human (HEK293, His) | NP_002769.1 (G17-N524) | ≥ 95%, as determined by reducing SDS-PAGE. |
PSAP Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82938 | PSAP Antibody (YA2683) | WB, IHC-P | Human |
| HY-P83993 | PSAP Antibody (YA3690) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Rat |
| HY-P83993A | PSAP Antibody (YA3690)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
|
| Combined Saposin Deficiency |
|
|
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
|
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
|
| Parkinson Disease 24, Autosomal Dominant |
|
|
| Metachromatic Leukodystrophy |
|
|
| Infantile Krabbe Disease |
|
|
| Metachromatic Leukodystrophy, Adult Form |
|
|
| Metachromatic Leukodystrophy, Late Infantile Form |
|
|
| Metachromatic Leukodystrophy, Juvenile Form |
|
|
| Hereditary Late-Onset Parkinson Disease |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Sphingolipidosis |
|
|
| Krabbe Disease |
|
|
| Leukodystrophy |
|
|
| Gm2 Gangliosidosis |
|
|
| Gaucher'S Disease |
|
|
| Gangliosidosis |
|
|
| Tay-Sachs Disease |
|
|
| Fabry Disease |
|
|
| Gaucher Disease, Type Iii |
|
|
| Glycoproteinosis |
|
|
| Mucolipidosis Ii Alpha/Beta |
|
|
| Niemann-Pick Disease |
|
|
| Gaucher Disease, Type Ii |
|
|
| Gm1 Gangliosidosis |
|
|
| Bacterial Gastritis |
|
|
| Gaucher Disease, Type I |
|
|
| Gaucher Disease, Type Iiic |
|
|
| Niemann-Pick Disease, Type C1 |
|
|
| Schindler Disease |
|
|
| Gaucher Disease, Perinatal Lethal |
|
|
| Lysosomal Storage Disease |
|
|
| Farber Lipogranulomatosis |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
| Galactosialidosis |
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
|
| Sandhoff Disease |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Aspartylglucosaminuria |
|
|
| Mucolipidosis |
|
|
| Niemann-Pick Disease, Type A |
|
|
| Niemann-Pick Disease, Type B |
|
|
| Prostate Cancer |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | PSAP | VGNC | VGNC:45080 |
| Bos taurus | PSAP | VGNC | VGNC:33431 |
| Rattus norvegicus | PSAP | RGD | RGD:3423 |
| Felis catus | PSAP | VGNC | VGNC:69093 |
| Macaca mulatta | PSAP | VGNC | VGNC:76434 |
| Mus musculus | PSAP | MGD | MGI:97783 |
| Others | PSAP | NCBI |