PSAP - prosaposin Gene

Homo sapiens

Also known as GLBA; SAP1; SAP2; PSAPD; PARK24

Gene ID: 5660 | Gene type: protein coding

About PSAP

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,816,298-71,851,251 (from NCBI)

This gene has 4 transcripts (splice variants), 228 orthologues, 2 paralogues and is associated with 12 phenotypes. Ubiquitous expression in spleen (RPKM 523.6), gall bladder (RPKM 491.5) and 25 other tissues.

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. [provided by RefSeq, Feb 2016]

PSAP Products(3)

mRNA	Protein	Name
NM_001042465.3	NP_001035930.1	prosaposin isoform b preproprotein
NM_001042466.3	NP_001035931.1	prosaposin isoform c preproprotein
NM_002778.4	NP_002769.1	prosaposin isoform a preproprotein

PSAP Protein Structure

SapA

SapB_1

SapB_2

SapB_1

SapB_2

SapB_1

SapB_2

SapB_1

SapB_2

SapA

0
100
200
300
400
524 a.a.

Protein Preferred Names

Protein Names

prosaposin

proactivator polypeptide

Recombinant PSAP Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76553	PSAP/Prosaposin Protein, Human (HEK293, His)	NP_002769.1 (G17-N524)	≥95%

Related Diseases

Diseases

Alias

Gaucher Disease, Atypical, Due To Saposin C Deficiency

Gaucher Disease, Atypical	Atypical Gaucher Disease Due To Saposin C Deficiency
Atypical Gaucher Disease	GDSAPC
Saposin C Deficiency	Atypical Gaucher'S Disease Due To Saposin C Deficiency
AGD

Combined Saposin Deficiency

Encephalopathy Due To Prosaposin Deficiency	Combined Sap Deficiency
PSAPD	Prosaposin Deficiency
Combined Prosaposin Deficiency	CSAPD
Saposin Deficiency, Combined

Metachromatic Leukodystrophy Due To Saposin B Deficiency

Metachromatic Leukodystrophy Due To Cerebroside Sulfatase Activator Deficiency	Saposin B Deficiency
Metachromatic Leukodystrophy Due To Sap-B Deficiency	MLDSAPB
Metachromatic Leukodystrophy Due To Saposin-B Deficiency	MLD-SAPB
Activator Deficiency	Leukodystrophy, Metachromatic, Due To Saposin-B Deficiency

Krabbe Disease, Atypical, Due To Saposin A Deficiency

Saposin A Deficiency	Krabbe Disease, Atypical
KRBSAPA	Krabbe Disease Atypical Due To Saposin A Deficiency
AKRD

Parkinson Disease 24, Autosomal Dominant

Parkinson Disease 24, Autosomal Dominant, Susceptibility To

PARK24

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency	MLD
Arsa Deficiency	Sulfatide Lipidosis
Metachromatic Leukoencephalopathy	Cerebral Sclerosis, Diffuse, Metachromatic Form
Cerebroside Sulfatase Deficiency	Leukodystrophy, Metachromatic
Pseudoarylsulfatase A Deficiency	Leukodystrophy Metachromatic
Sulfatidosis	Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy Variant	Deficiency Of Cerebroside-Sulfatase
Scholz Cerebral Sclerosis	Sulfatide Lipoidosis
Cerebral Sclerosis Diffuse Metachromatic Form	Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease	Greenfield Disease
Metachromatic Leukodystrophy, Adult	Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Adult	Leukodystrophy Metachromatic Juvenile
Leukodystrophy Metachromatic Late Infantile	Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy, Juvenile Type	Metachromatic Leukodystrophy, Infant
Greenfield'S Disease

Infantile Krabbe Disease

Krabbe Disease, Classic Form	Krabbe Disease, Early-Onset
Infantile Globoid Cell Leukodystrophy

Metachromatic Leukodystrophy, Adult Form

Arylsulfatase A Deficiency, Adult Form

Mld, Adult Form

Metachromatic Leukodystrophy, Late Infantile Form

Arylsulfatase A Deficiency, Late Infantile Form

Mld, Late Infantile Form

Metachromatic Leukodystrophy, Juvenile Form

Arylsulfatase A Deficiency, Juvenile Form

Mld, Juvenile Form

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease	Lopd
Hereditary Late Onset Parkinson Disease

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

Sphingolipidosis

Sphingolipidoses

Krabbe Disease

Globoid Cell Leukodystrophy	Galactosylceramide Beta-Galactosidase Deficiency
Galc Deficiency	Galactocerebrosidase Deficiency
GLD	Globoid Cell Leukoencephalopathy
Diffuse Globoid Body Sclerosis	Gcl
Leukodystrophy, Globoid Cell	Krabbe'S Leukodystrophy
Krabbe Leukodystrophy	KRB
Beta Galactocerebrosidase Deficiency	Krabbe'S Disease
Galactosylceramidase Deficiency Disease	Galactosylceramide Lipidosis
Galactosylcerebrosidase Deficiency	Galactosylsphingosine Lipidosis
Psychosine Lipidosis	Galactosylceramidase Deficiency
Infantile Globoid Cell Leukodystrophy	Krabbe Brain Sclerosis

Leukodystrophy

Leukodystrophies

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

Gaucher'S Disease

Gaucher Disease	Kerasin Thesaurismosis
Glucocerebrosidase Deficiency	Glucosylceramidase Deficiency
Cerebroside Lipidosis Syndrome	Acid Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency	Acute Cerebral Gaucher Disease
Gaucher Splenomegaly	Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis	Kerasin Lipoidosis
Lipoid Histiocytosis	Glocucerebrosidase Deficiency
Sphingolipidosis 1	Gaucher Syndrome
Gauchers Disease	Gd
Glucosylceramide Lipidosis	Kerasin Histiocytosis
Gaucher Disease, Type 1	Gaucher Disease, Type 2

Gangliosidosis

Gangliosidoses

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Fabry Disease

Alpha-Galactosidase A Deficiency	Anderson-Fabry Disease
Angiokeratoma Corporis Diffusum	Ceramide Trihexosidase Deficiency
Fabry Disease, Cardiac Variant	Fabry'S Disease
Hereditary Dystopic Lipidosis	Gla Deficiency
FD	Alpha Galactosidase Deficiency
Deficiency Of Melibiase	Angiokeratoma, Diffuse
Angiokeratoma Diffuse	Diffuse Angiokeratoma

Gaucher Disease, Type Iii

Gaucher Disease, Subacute Neuronopathic Type	Gd Iii
Gaucher Disease, Chronic Neuronopathic Type	Gaucher Disease, Juvenile And Adult, Cerebral
Gaucher Disease Type 3	GD3
Gaucher'S Disease Type Iii	Gaucher Disease Type Iii
Gd 3	Cerebral Juvenile And Adult Form Of Gaucher Disease
Chronic Neuronopathic Gaucher Disease	Gaucher Disease 3
Cerebral, Juvenile And Adult, Gaucher Disease	Gaucher Disease Chronic Neuronopathic Type
Gaucher Disease Type Ii	Subacute Neuronopathic Gaucher Disease
Type 3 Gaucher Disease	Gaucher Disease, Type 3
Gaucher Disease, Type 2

Glycoproteinosis

Sialidosis	Mucolipidosis Type I
Mucolipidoses	Cherry Red Spot Myoclonus Syndrome
Mucolipidosis I	Myoclonus Cherry Red Spot Syndrome
Type I Mucolipidosis	Lipomucopolysaccharidosis
Disorders Of Glycoprotein Metabolism	Glycoprotein Storage Disorder

Mucolipidosis Ii Alpha/Beta

I-Cell Disease	Mucolipidosis Type Ii
Mucolipidosis Ii	Icd
Inclusion Cell Disease	Inclusion-Cell Disease
I Cell Disease	Mucolipidosis 2
MLII	Ml Ii
Ml Ii Alpha/Beta	Gnpta
Leroy Disease	Ml 2
Ml Disorder Type 2	N-Acetylglucosamine 1phosphotransferase Deficiency
Mucolipidosis Type Ii Alpha/Beta	N-Acetylglucosamine 1-Phosphotransferase Deficiency
Deficiency Of N-Acetylglucosamine-1-Phosphotransferase	Mucolipidosis, Type Ii, Alpha/Beta
Ml2	Type Ii Mucolipidosis

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Gaucher Disease, Type Ii

GD2	Gd Ii
Gaucher Disease, Acute Neuronopathic Type	Gaucher Disease Type 2
Gaucher Disease Type Ii	Gaucher'S Disease Type Ii
Infantile Cerebral Gaucher Disease	Acute Neuronopathic Gaucher Disease
Gd 2	Gaucher Disease, Infantile Cerebral
Gaucher Disease 2	Type 2 Gaucher Disease
Gaucher Disease, Type 2

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency	Gangliosidosis Gm1
Deficiency Of Beta-Galactosidase	Beta Galactosidase 1 Deficiency
Beta-Galactosidosis	Glb 1 Deficiency
Beta-Galactosidase-1 Deficiency	Beta-Galactosidase-1 Deficiency
Glb1 Deficiency	Landing Disease
Gangliosidosis, Gm1

Bacterial Gastritis

Gaucher Disease, Type I

Glucocerebrosidase Deficiency	Acid Beta-Glucosidase Deficiency
Gba Deficiency	GD1
Gd I	Gaucher Disease, Noncerebral Juvenile
Gaucher Disease Type 1	Gaucher Disease Type I
Gaucher'S Disease Type I	Gaucher Disease
Gd 1	Non-Cerebral Juvenile Gaucher Disease
GD	Gaucher Disease 1
Adult Non-Neuronopathic Gaucher Disease	Noncerebral Juvenile Gaucher Disease
Type 1 Gaucher Disease	Gaucher Disease, Type 1

Gaucher Disease, Type Iiic

Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Gaucher-Like Disease
GD3C	Gaucher'S Disease Type Iiic
Cardiovascular Gaucher Disease	Gaucher Disease Type 3c
Gaucher Disease 3c	Pseudo-Gaucher Disease

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Schindler Disease

Alpha-N-Acetylgalactosaminidase Deficiency	Naga Deficiency
Alpha-Galactosidase B Deficiency	Alpha-Galnac Deficiency, Schindler Type
Alpha-Naga Deficiency	Angiokeratoma Corporis Diffusum-Glycopeptiduria
Galb Deficiency	Kanzaki Disease
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum	Neuroaxonal Dystrophy, Schindler Type
Neuronal Axonal Dystrophy, Schindler Type	Schindler Disease, Type I
Schindler Disease, Type Ii

Gaucher Disease, Perinatal Lethal

Gaucher Disease Perinatal Lethal	Gaucher Disease, Collodion Type
Gaucher'S Disease Perinatal Lethal	Fetal Gaucher Disease
Perinatal Lethal Gaucher Disease	Gaucher Disease Collodion Type
Gaucher Disease, Perinatal-Lethal Form	GDPL

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Farber Lipogranulomatosis

Farber Disease	Acid Ceramidase Deficiency
Ceramidase Deficiency	Ac Deficiency
N-Laurylsphingosine Deacylase Deficiency	Farber'S Disease
FRBRL	Farber'S Lipogranulomatosis
Acylsphingosine Deacylase Deficiency	Farber-Uzman Syndrome
Acy

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Galactosialidosis

Goldberg Syndrome	Neuraminidase Deficiency With Beta-Galactosidase Deficiency
Ppca Deficiency	GSL
Lysosomal Protective Protein Deficiency	Cathepsin A Deficiency
Neuraminidase/Beta-Galactosidase Expression	Protective Protein/Cathepsin A Deficiency
Ngbe	Cathepsin A Deficiency Of
Lysosomal Protective Protein Deficiency Of	Deficiency Of Cathepsin A
Neuraminidase Beta-Galactosidase Deficiency	Protective Protein Cathepsin A Deficiency

Gm2-Gangliosidosis, Ab Variant

Hexosaminidase Activator Deficiency	Tay-Sachs Disease, Ab Variant
Gm2 Gangliosidosis, Ab Variant	Gm2 Activator Deficiency
Tay-Sachs Disease, Variant Ab	Tay-Sachs Disease Ab Variant
Ab Variant Gm2-Gangliosidosis	Tay-Sachs Variant Ab
Ab Variant	Activator Deficiency/Gm2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease	Gm2 Activator Deficiency Disease
Gm2 Gangliosidosis, Type Ab	Gm2-Gangliosidosis Ab
GM2GAB	Gm2-Gangliosidosis Ab Variant
Gangliosidosis Gm2 Ab Variant	Gm2-Gangliosidosis, Variant Ab

Sandhoff Disease

Total Hexosaminidase Deficiency	Hexosaminidases A And B Deficiency
Sandhoff Disease, Infantile, Juvenile, And Adult Forms	Beta-Hexosaminidase-Beta-Subunit Deficiency
Gm2 Gangliosidosis, Type 2	Hexosaminidase A And B Deficiency Disease
Sandhoff-Jatzkewitz-Pilz Disease	Gm2 Gangliosidosis, Type Ii
Sandhoff Disease, Infantile Form	Sandhoff Disease, Adult Form
Sandhoff Disease, Juvenile Form	Gm2-Gangliosidosis, Type Ii
Sandhoff Jatzkewitz Disease	Type Ii Gm2 Gangliosidosis
Gm2 Gangliosidosis, 0 Variant	Gm2 Gangliosidosis 0 Variant
Hexosaminidases A And B Deficiency, Infantile Form	Infantile Gm2 Gangliosidosis 0 Variant
Adult Gm2 Gangliosidosis 0 Variant	Hexosaminidases A And B Deficiency, Adult Form
Hexosaminidases A And B Deficiency, Juvenile Form	Juvenile Gm2 Gangliosidosis 0 Variant
Gm2-Gangliosidosis 2	GM2G2
Hexosaminidase A And B Deficiency	Sd

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Mucolipidosis

Niemann-Pick Disease, Type A

Niemann-Pick Disease Type A	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Acid Sphingomyelinase Deficiency, Neurovisceral Type	Asmd, Neurovisceral Type
Infantile Neurovisceral Acid Sphingomyelinase Deficiency	Infantile Neurovisceral Asmd
Npd-A	Niemann-Pick Disease A
NPDA	Classical Niemann-Pick Disease
Niemann-Pick Disease Acute Neuronopathic Form	Niemann-Pick Disease Acute Neurovisceral Form
Niemann-Pick Disease Classical Infantile Form	Niemann-Pick Disease Intermediate Protracted Neurovisceral
Niemann-Pick Disease Neuronopathic Type	Niemann-Pick Disease Type I
Npa	Niemann-Pick Diseases

Niemann-Pick Disease, Type B

Niemann-Pick Disease Type B	Acid Sphingomyelinase Deficiency, Visceral Type
Asmd, Visceral Type	Niemann Pick Disease Type B
Chronic Visceral Acid Sphingomyelinase Deficiency	Chronic Visceral Asmd
Npd-B	Niemann-Pick Disease B
NPDB	Niemann-Pick Disease Adult Non-Neuronopathic Form
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression	Niemann-Pick Disease Type E
Niemann-Pick Disease Type F	Niemann-Pick Disease Type I
Niemann-Pick Disease Visceral Form	Npb
Sphingomyelinase Deficiency	Sphingomyelin Lipidosis
Niemann-Picks Disease Type B	Niemann-Pick Disease, Type E
Niemann-Pick Diseases	Niemann-Pick Disease, Type A

Prostate Cancer

Prostate Carcinoma	Prostate Cancer, Familial
Prostate Neoplasm	Prostate Cancer, Somatic
Prostate Cancer, Susceptibility To	Prostatic Cancer
Prostatic Neoplasms	Hereditary Prostate Cancer
Prostatic Neoplasm	Cancer Of Prostate
Carcinoma Of Prostate	Familial Prostate Cancer
Familial Prostate Carcinoma	Malignant Tumor Of Prostate
Malignant Neoplasm Of Prostate	Prostate Cancer, Familial, Susceptibility To
Malignant Tumor Of The Prostate	Ngp - New Growth Of Prostate
Tumor Of The Prostate	Prostate Cancer, Hereditary
Cancer Of The Prostate	Malignant Neoplasm Of The Prostate
Prostatic Carcinoma	PC
Prca	Cancer, Prostate
Malignant Prostatic Tumour	Malignant Tumour Of Prostate
Primary Prostate Cancer	Primary Malignant Neoplasm Of Prostate
Prostate Gland Cancer

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11269	PSAP Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PSAP	VGNC	VGNC:45080
Bos taurus	PSAP	VGNC	VGNC:33431
Rattus norvegicus	PSAP	RGD	RGD:3423
Felis catus	PSAP	VGNC	VGNC:69093
Macaca mulatta	PSAP	VGNC	VGNC:76434
Mus musculus	PSAP	MGD	MGI:97783
Others	PSAP	NCBI