QuickView for PSAP (gene)

Gene Symbol:

PSAP Homo sapiens

Full name:

prosaposin

Synonyms:

GLBA, SAP1, prosaposin, proactivator polypeptide, sphingolipid activator protein-1

Genomic Location:

Chr 10: 73246061-73281088

Description:

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 primaril...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTTGCAC_MIR19A_MIR19B ,  TCANNTGAY_SREBP1_01 ,  RYTTCCTG_ETS2_B ,  TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D ,  TTGCACT_MIR130A_MIR301_MIR130B ,  TATAAA_TATA_01 ,  YGCANTGCR_UNKNOWN ,  CTGAGCC_MIR24

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-181 ,  Predicted Gene Targets for miR-19 ,  Predicted Gene Targets for miR-24

Cytogenetic Map:

10q22.1

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