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prosaposin

Summary

Gene Symbol

PSAP

Aliases

saposin-A
saposin-B
saposin-C
saposin-D
variant Gaucher disease and variant metachromatic leukodystrophy

Organism

Homo sapiens (human)

External Links

NCBI Gene

5660

HGNC

9498

KEGG Gene ID

hsa:5660

PubChem

5660

Alliance of Genome Resources

HGNC:9498

Annotation

Keyword

3D-structure
Alternative splicing
Direct protein sequencing
Disease variant
Disulfide bond
Gangliosidosis
Gaucher disease
Glycoprotein
Lysosome
Metachromatic leukodystrophy
Neurodegeneration
Parkinson disease
Parkinsonism
Reference proteome
Repeat
Secreted
Signal
Sphingolipid metabolism

Proteins

Displaying 1 entry
UniProt	Protein Name
P07602	Proactivator polypeptide

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
positive regulation of beta-galactosidase activity	IDA	1454804
epithelial cell differentiation involved in prostate gland development	IBA
sphingolipid metabolic process	IEA
prostate gland growth	IBA
regulation of autophagy		22949512

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process

organic substance metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process

cellular process [inference]

signal transduction [inference]

G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-modulating G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway

cellular metabolic process [inference]

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

sphingolipid metabolic process

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epithelial cell differentiation involved in prostate gland development

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

localization within membrane [inference]

ganglioside GM1 transport to membrane

reproductive process [inference]

developmental process involved in reproduction [inference]

multicellular organismal process [inference]

organ growth [inference]

prostate gland growth

developmental process [inference]

developmental process involved in reproduction [inference]

cellular developmental process [inference]

cell differentiation [inference]

epithelial cell differentiation [inference]

epithelial cell differentiation involved in prostate gland development

growth [inference]

developmental growth [inference]

organ growth [inference]

prostate gland growth

localization [inference]

establishment of localization [inference]

transport [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

organic substance transport [inference]

lipid transport [inference]

ceramide transport [inference]

ganglioside GM1 transport to membrane

glycolipid transport [inference]

ganglioside GM1 transport to membrane

organic anion transport [inference]

carboxylic acid transport [inference]

ganglioside GM1 transport to membrane

organic acid transport [inference]

carboxylic acid transport [inference]

ganglioside GM1 transport to membrane

carbohydrate derivative transport [inference]

glycolipid transport [inference]

ganglioside GM1 transport to membrane

nitrogen compound transport [inference]

amide transport [inference]

ceramide transport [inference]

ganglioside GM1 transport to membrane

establishment of localization in cell [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

cellular localization [inference]

intracellular transport [inference]

vacuolar transport [inference]

lysosomal transport

localization within membrane [inference]

ganglioside GM1 transport to membrane

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of catabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy

regulation of cellular metabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy

regulation of primary metabolic process [inference]

regulation of lipid metabolic process

regulation of cellular process [inference]

signal transduction [inference]

G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-modulating G protein-coupled receptor signaling pathway [inference]

adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway

regulation of cellular metabolic process [inference]

regulation of cellular catabolic process [inference]

regulation of autophagy

regulation of molecular function [inference]

positive regulation of molecular function [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of beta-galactosidase activity

regulation of catalytic activity [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of beta-galactosidase activity

regulation of hydrolase activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of beta-galactosidase activity

Displaying entry **11 - 11** of 11 in total

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GO Term	Evidence Code	PMID
late endosome	IDA	26370502

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

secretory granule membrane [inference]

azurophil granule membrane

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

azurophil granule membrane

secretory granule membrane [inference]

azurophil granule membrane

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

late endosome

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

late endosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

late endosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **6 - 10** of 11 in total

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GO Term	Evidence Code	PMID
phospholipid binding	IDA	14674747
enzyme activator activity		2717620
protein binding	IPI	16713569 20709014 22431521 24872419 26370502 32296183 32814053
ganglioside GM2 binding	IDA	1454804
protease binding	IPI	24872419

GO Hierarchy

molecular function

binding [inference]

protein binding

enzyme binding [inference]

protease binding

identical protein binding [inference]

protein homodimerization activity

protein dimerization activity [inference]

protein homodimerization activity

scaffold protein binding

lipid binding [inference]

phospholipid binding

sphingolipid binding [inference]

glycosphingolipid binding [inference]

ganglioside binding [inference]

ceramide binding [inference]

ganglioside binding [inference]

glycolipid binding [inference]

glycosphingolipid binding [inference]

ganglioside binding [inference]

amide binding [inference]

ceramide binding [inference]

ganglioside binding [inference]

small molecule binding [inference]

organic acid binding [inference]

carboxylic acid binding [inference]

monocarboxylic acid binding [inference]

ganglioside GM3 binding

ion binding [inference]

anion binding [inference]

carboxylic acid binding [inference]

monocarboxylic acid binding [inference]

ganglioside GM3 binding

carbohydrate derivative binding [inference]

glycolipid binding [inference]

glycosphingolipid binding [inference]

ganglioside binding [inference]

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme activator activity

molecular function activator activity [inference]

enzyme activator activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000197746

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K12382

Name

saposin

References

Disease

Disease Ontology

Displaying entries **221 - 230** of **267** in total

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DO ID	Disease Name	Source
DOID:3121	gallbladder cancer	DisGeNET DisGeNET DisGeNET
DOID:318	progressive muscular atrophy	DisGeNET
DOID:3211	lysosomal storage disease	DisGeNET Alliance of Genome Resources
DOID:332	amyotrophic lateral sclerosis	DisGeNET
DOID:3355	fibrosarcoma	DisGeNET
DOID:3459	breast carcinoma	DisGeNET DisGeNET
DOID:3516	adult fibrosarcoma	DisGeNET
DOID:3535	Unverricht-Lundborg syndrome	DisGeNET
DOID:3571	liver cancer	DisGeNET DisGeNET
DOID:3620	central nervous system cancer	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000365	Hearing impairment
HP:0000467	Neck muscle weakness
HP:0000496	Abnormality of eye movement
HP:0000508	Ptosis
HP:0000572	Visual loss
HP:0000605	Supranuclear gaze palsy
HP:0000613	Photophobia

Displaying **all 10** entries
Disease ID	Disease Name
OMIM:611721	combined PSAP deficiency
ORPHA:139406	combined PSAP deficiency
ORPHA:309271	metachromatic leukodystrophy, adult form
OMIM:611722	Krabbe disease due to saposin A deficiency
ORPHA:206436	infantile Krabbe disease
ORPHA:309263	metachromatic leukodystrophy, juvenile form
OMIM:610539	Gaucher disease due to saposin C deficiency
ORPHA:309256	metachromatic leukodystrophy, late infantile form
OMIM:619491	Parkinson disease 24, autosomal dominant, susceptibility to
OMIM:249900	metachromatic leukodystrophy due to saposin B deficiency

PubChem Disease

GHR Health Conditions

Metachromatic leukodystrophy

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002838
Gene Name: prosaposin

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	177651	WB:WBGene00004995
Caenorhabditis elegans	177652	WB:WBGene00004993
Drosophila melanogaster	43662	FB:FBgn0000416
Callorhinchus milii	103185881		CALMI33199
Latimeria chalumnae	102357353		LATCH13533
Danio rerio	140811	ZFIN:ZDB-GENE-020108-1	DANRE05749
Ictalurus punctatus	108263172		ICTPU27381
Electrophorus electricus	113585694		ELEEL06311
Salmo salar	106578810		SALSA58898
Salmo trutta	115155734		SALTR00031

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements