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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
lysosomal transport	IDA IMP	26370502 28541286 28835281
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IBA
regulation of lipid metabolic process	IBA
ganglioside GM1 transport to membrane	IDA	1454804

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

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GO Term	Evidence Code	PMID
intracellular membrane-bounded organelle	IDA
azurophil granule membrane
extracellular region	HDA TAS	27068509
plasma membrane
collagen-containing extracellular matrix	HDA	27559042

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

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GO Term	Evidence Code	PMID
ganglioside GM1 binding	IDA	1454804
ganglioside GM3 binding	IDA	1454804
protein homodimerization activity	IDA	18462685
ganglioside GT1b binding	IDA	1454804
scaffold protein binding	IPI	23555801

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 **11 - 20** of **267** in total

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DO ID	Disease Name	Source
DOID:0060672	Grn-related frontotemporal lobar degeneration with Tdp43 inclusions	DisGeNET
DOID:0060690	autosomal dominant auditory neuropathy 1	DisGeNET
DOID:0060810	syndromic X-linked intellectual disability type 10	DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060892	late onset Parkinson's disease	Alliance of Genome Resources
DOID:0060895	Parkinson's disease 4	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0080161	cutaneous candidiasis	DisGeNET
DOID:0080334	aortic valve disease 2	DisGeNET
DOID:0110462	autosomal recessive nonsyndromic deafness 101	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **148** in total

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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

Displaying entries **41 - 50** of 80 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Equus caballus	100063520		HORSE18018
Sus scrofa	100153167		PIGXX07770
Bos taurus	281433		BOVIN22498
Capra hircus	102173365		CAPHI18662
Ovis aries	100135695		SHEEP12871
Oryctolagus cuniculus	100359322		RABIT06717
Mus musculus	19156	MGI:97783	MOUSE01547
Rattus norvegicus	25524	RGD:3423	RATNO22029
Cavia porcellus	100713024		CAVPO08607
Heterocephalus glaber	101722989		HETGA11723

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements