Official symbol | PSAP |
Gene id | 5660 |
Organism | Homo sapiens |
Official full symbol | prosaposin |
Gene type | protein-coding |
Also known as | GLBA, SAP1, SAP2 |
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. |
Genomic regions | Chromosome 10 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PSAP-202 | ENST00000394936.8 | 2748 | 524aa | Protein coding | CCDS7311 | P07602-1 | NM_002778.4 | TSL:1, GENCODE basic, APPRIS P2, MANE Select v0.92, |
PSAP-201 | ENST00000394934.4 | 2830 | 527aa | Protein coding | - | C9JIZ6 | - | TSL:5, GENCODE basic, APPRIS ALT2, |
PSAP-205 | ENST00000610929.3 | 1969 | 240aa | Protein coding | - | Q5BJH1 | - | TSL:1, GENCODE basic, |
PSAP-206 | ENST00000633965.1 | 500 | 167aa | Protein coding | - | A0A0J9YXB8 | - | CDS 5' and 3' incomplete, TSL:5, |
PSAP-203 | ENST00000493143.1 | 576 | No protein | Retained intron | - | - | - | TSL:2, |
PSAP-204 | ENST00000495196.1 | 344 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | PSAP |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PSAP had been KO in hela cell line. |
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