PSAP

GENE INFORMATION

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Gene name

PSAP (HGNC Symbol)

Synonyms

GLBA, SAP1

Description

Prosaposin (HGNC Symbol)

Entrez gene summary

This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products: 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, Tay-Sachs disease, and metachromatic leukodystrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Chromosome

10

Cytoband

q22.1

Chromosome location (bp)

71816298 - 71851369

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000197746 (version 78.38)

Entrez gene

5660

UniProt

P07602 (UniProt - Evidence at protein level)

neXtProt

NX_P07602

Antibodypedia

PSAP antibodies
 

PROTEIN VIEW

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PSAP-001
 
PSAP-201
 
PSAP-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PSAP-001 ENSP00000378394
ENST00000394936
P07602
Show all »
Show » Show » 524 58.1 Yes 0
PSAP-201 ENSP00000378392
ENST00000394934
C9JIZ6
Show all »
Show » Show » 527 58.4 Yes 0
PSAP-202 ENSP00000480857
ENST00000610929
Q5BJH1
Show all »
Show » Show » 240 26.3 Yes 0