1. Gene
  2. PSAP - prosaposin Gene

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

SapA: Saposin A-type domain (21 - 54)

SapB_1

SapB_1: Saposin-like type B, region 1 (61 - 98)

SapB_2

SapB_2: Saposin-like type B, region 2 (105 - 138)

SapB_1

SapB_1: Saposin-like type B, region 1 (195 - 234)

SapB_2

SapB_2: Saposin-like type B, region 2 (238 - 271)

SapB_1

SapB_1: Saposin-like type B, region 1 (313 - 350)

SapB_2

SapB_2: Saposin-like type B, region 2 (354 - 388)

SapB_1

SapB_1: Saposin-like type B, region 1 (407 - 444)

SapB_2

SapB_2: Saposin-like type B, region 2 (449 - 482)

SapA

SapA: Saposin A-type domain (491 - 524)

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  • 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

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