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Protein

Prosaposin

Gene

PSAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.
Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.
Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).
Prosaposin: Behaves as a myelinotrophic and neurotrophic factor, these effects are mediated by its G-protein-coupled receptors, GPR37 and GPR37L1, undergoing ligand-mediated internalization followed by ERK phosphorylation signaling.By similarity1 Publication
Saposins are specific low-molecular mass non-enzymic proteins, they participate in the lysosomal degradation of sphingolipids, which takes place by the sequential action of specific hydrolases.

Miscellaneous

Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei215Not glycosylated; in variant MLD-SAPB Ile-2171

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114608 Platelet degranulation
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418594 G alpha (i) signalling events
R-HSA-6798695 Neutrophil degranulation

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.C.35.2.1 the amoebapore (amoebapore) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Prosaposin
Alternative name(s):
Proactivator polypeptide
Cleaved into the following 5 chains:
Alternative name(s):
Protein A
Alternative name(s):
Cerebroside sulfate activator
Short name:
CSAct
Dispersin
Sphingolipid activator protein 1
Short name:
SAP-1
Sulfatide/GM1 activator
Alternative name(s):
A1 activator
Co-beta-glucosidase
Glucosylceramidase activator
Sphingolipid activator protein 2
Short name:
SAP-2
Alternative name(s):
Component C
Protein C
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PSAP
Synonyms:GLBA, SAP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000197746.13

Human Gene Nomenclature Database

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HGNCi
HGNC:9498 PSAP

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
176801 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P07602

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Lysosome, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined saposin deficiency (CSAPD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionDue to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.
See also OMIM:611721
Metachromatic leukodystrophy due to saposin-B deficiency (MLD-SAPB)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn atypical form of metachromatic leukodystrophy. It is characterized by tissue accumulation of cerebroside-3-sulfate, demyelination, periventricular white matter abnormalities, peripheral neuropathy. Additional neurological features include dysarthria, ataxic gait, psychomotor regression, seizures, cognitive decline and spastic quadriparesis.
See also OMIM:249900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_031823215N → H in MLD-SAPB; reduces the intracellular activity of the protein significantly. 1 PublicationCorresponds to variant dbSNP:rs121918107EnsemblClinVar.1
Natural variantiVAR_031899215N → K in MLD-SAPB. 1 PublicationCorresponds to variant dbSNP:rs770171865Ensembl.1
Natural variantiVAR_006943217T → I in MLD-SAPB; juvenile; affects glycosylation at N-215. 2 PublicationsCorresponds to variant dbSNP:rs121918103EnsemblClinVar.1
Natural variantiVAR_006944241C → S in MLD-SAPB; severe. 1 PublicationCorresponds to variant dbSNP:rs121918104EnsemblClinVar.1
Gaucher disease, atypical, due to saposin C deficiency (AGD)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
See also OMIM:610539
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_042441349L → P in AGD. 1 PublicationCorresponds to variant dbSNP:rs121918110Ensembl.1
Natural variantiVAR_006945388C → F in AGD. 1 Publication1
Krabbe disease, atypical, due to saposin A deficiency (AKRD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of galactosylceramide metabolism. Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination.
See also OMIM:611722
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04244070Missing in AKRD. 1 Publication1
Defects in PSAP saposin-D region are found in a variant of Tay-Sachs disease (GM2-gangliosidosis).

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi240I → C: Strongly decreases stimulation of cerebroside sulfate hydrolysis. 1 Publication1

Keywords - Diseasei

Disease mutation, Gangliosidosis, Gaucher disease, Leukodystrophy, Metachromatic leukodystrophy

Organism-specific databases

DisGeNET

More...
DisGeNETi
5660

MalaCards human disease database

More...
MalaCardsi
PSAP
MIMi249900 phenotype
610539 phenotype
611721 phenotype
611722 phenotype

Open Targets

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OpenTargetsi
ENSG00000197746

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
309252 Atypical Gaucher disease due to saposin C deficiency
139406 Encephalopathy due to prosaposin deficiency
206436 Infantile Krabbe disease
309271 Metachromatic leukodystrophy, adult form
309263 Metachromatic leukodystrophy, juvenile form
309256 Metachromatic leukodystrophy, late infantile form

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33845

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL3580523

Drug and drug target database

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DrugBanki
DB01966 Di-Stearoyl-3-Sn-Phosphatidylethanolamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
PSAP

Domain mapping of disease mutations (DMDM)

More...
DMDMi
134218

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 16Combined sources2 PublicationsAdd BLAST16
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000042477417 – 524Prosaposin1 PublicationAdd BLAST508
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000003161617 – 59CuratedAdd BLAST43
ChainiPRO_000003161760 – 142Saposin-A1 PublicationAdd BLAST83
PropeptideiPRO_0000031618143 – 194CuratedAdd BLAST52
ChainiPRO_0000031619195 – 274Saposin-B-Val2 PublicationsAdd BLAST80
ChainiPRO_0000031620195 – 273Saposin-B1 PublicationAdd BLAST79
PropeptideiPRO_0000031621275 – 310CuratedAdd BLAST36
ChainiPRO_0000031622311 – 390Saposin-C1 PublicationAdd BLAST80
PropeptideiPRO_0000031623393 – 404CuratedAdd BLAST12
ChainiPRO_0000031624405 – 486Saposin-D1 PublicationAdd BLAST82
PropeptideiPRO_0000031625487 – 524CuratedAdd BLAST38

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi63 ↔ 1381 Publication
Disulfide bondi66 ↔ 1321 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi80N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation3 Publications1
Disulfide bondi94 ↔ 1061 Publication
Glycosylationi101N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation3 Publications1
Disulfide bondi198 ↔ 2711 Publication
Disulfide bondi201 ↔ 2651 Publication
GlycosylationiCAR_000176215N-linked (GlcNAc...) (complex) asparaginePROSITE-ProRule annotation2 Publications1
Disulfide bondi230 ↔ 241PROSITE-ProRule annotation1 Publication
Disulfide bondi315 ↔ 388PROSITE-ProRule annotation1 Publication
Disulfide bondi318 ↔ 382PROSITE-ProRule annotation1 Publication
Glycosylationi332N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation2 Publications1
Disulfide bondi346 ↔ 357PROSITE-ProRule annotation1 Publication
Disulfide bondi409 ↔ 4821 Publication
Disulfide bondi412 ↔ 4761 Publication
Glycosylationi426N-linked (GlcNAc...) asparaginePROSITE-ProRule annotation2 Publications1
Disulfide bondi440 ↔ 4511 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

The lysosomal precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.
N-linked glycans show a high degree of microheterogeneity.2 Publications
The one residue extended Saposin-B-Val is only found in 5% of the chains.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P07602

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P07602

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P07602

PeptideAtlas

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PeptideAtlasi
P07602

PRoteomics IDEntifications database

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PRIDEi
P07602

ProteomicsDB human proteome resource

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ProteomicsDBi
52019
52020 [P07602-2]
52021 [P07602-3]

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
P07602-1 [P07602-1]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1645
545
546
548
549

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P07602

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P07602

UniCarbKB; an annotated and curated database of glycan structures

More...
UniCarbKBi
P07602

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197746 Expressed in 243 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

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CleanExi
HS_PSAP

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P07602 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P07602 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB004647
HPA004426

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Saposin-B is a homodimer. Prosaposin exists as a roughly half-half mixture of monomers and disulfide-linked dimers (PubMed:10406958, PubMed:12510003, PubMed:7730378, PubMed:21835174). Monomeric prosaposin interacts (via C-terminus) with sortilin/SORT1, the interaction is required for targeting to lysosomes (PubMed:14657016, PubMed:22431521).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111639, 45 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P07602

Database of interacting proteins

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DIPi
DIP-29803N

Protein interaction database and analysis system

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IntActi
P07602, 23 interactors

Molecular INTeraction database

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MINTi
P07602

STRING: functional protein association networks

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STRINGi
9606.ENSP00000378394

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1524
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M12NMR-A311-390[»]
1N69X-ray2.20A/B/C195-273[»]
1SN6NMR-A311-390[»]
2DOBX-ray2.00A60-140[»]
2GTGX-ray2.40A311-391[»]
2QYPX-ray2.45A/B311-392[»]
2R0RX-ray2.50A/B407-484[»]
2R1QX-ray2.50A407-484[»]
2RB3X-ray2.10A/B/C/D407-484[»]
2Z9AX-ray2.50A/B311-389[»]
3BQPX-ray1.30A/B405-484[»]
3BQQX-ray2.00A/B/C/D405-484[»]
4DDJX-ray1.90A60-140[»]
4UEXX-ray1.80A/B60-142[»]
4V2OX-ray2.13A/B/C195-273[»]

Database of protein disorder

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DisProti
DP00733

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P07602

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P07602

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P07602

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini18 – 58Saposin A-type 1PROSITE-ProRule annotationAdd BLAST41
Domaini59 – 142Saposin B-type 1PROSITE-ProRule annotationAdd BLAST84
Domaini194 – 275Saposin B-type 2PROSITE-ProRule annotationAdd BLAST82
Domaini311 – 392Saposin B-type 3PROSITE-ProRule annotationAdd BLAST82
Domaini405 – 486Saposin B-type 4PROSITE-ProRule annotationAdd BLAST82
Domaini488 – 524Saposin A-type 2PROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1340 Eukaryota
ENOG410XSI5 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156695

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG002617

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P07602

KEGG Orthology (KO)

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KOi
K12382

Database of Orthologous Groups

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OrthoDBi
865505at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P07602

TreeFam database of animal gene trees

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TreeFami
TF316942

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR003119 SAP_A
IPR007856 SapB_1
IPR008138 SapB_2
IPR008373 Saposin
IPR011001 Saposin-like
IPR021165 Saposin_chordata
IPR008139 SaposinB_dom

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02199 SapA, 2 hits
PF05184 SapB_1, 4 hits
PF03489 SapB_2, 4 hits

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF002431 Saposin, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01797 SAPOSIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00162 SAPA, 2 hits
SM00741 SapB, 4 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47862 SSF47862, 4 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51110 SAP_A, 2 hits
PS50015 SAP_B, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform Sap-mu-0 (identifier: P07602-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MYALFLLASL LGAALAGPVL GLKECTRGSA VWCQNVKTAS DCGAVKHCLQ
60 70 80 90 100
TVWNKPTVKS LPCDICKDVV TAAGDMLKDN ATEEEILVYL EKTCDWLPKP
110 120 130 140 150
NMSASCKEIV DSYLPVILDI IKGEMSRPGE VCSALNLCES LQKHLAELNH
160 170 180 190 200
QKQLESNKIP ELDMTEVVAP FMANIPLLLY PQDGPRSKPQ PKDNGDVCQD
210 220 230 240 250
CIQMVTDIQT AVRTNSTFVQ ALVEHVKEEC DRLGPGMADI CKNYISQYSE
260 270 280 290 300
IAIQMMMHMQ PKEICALVGF CDEVKEMPMQ TLVPAKVASK NVIPALELVE
310 320 330 340 350
PIKKHEVPAK SDVYCEVCEF LVKEVTKLID NNKTEKEILD AFDKMCSKLP
360 370 380 390 400
KSLSEECQEV VDTYGSSILS ILLEEVSPEL VCSMLHLCSG TRLPALTVHV
410 420 430 440 450
TQPKDGGFCE VCKKLVGYLD RNLEKNSTKQ EILAALEKGC SFLPDPYQKQ
460 470 480 490 500
CDQFVAEYEP VLIEILVEVM DPSFVCLKIG ACPSAHKPLL GTEKCIWGPS
510 520
YWCQNTETAA QCNAVEHCKR HVWN
Length:524
Mass (Da):58,113
Last modified:August 1, 1990 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i71977F7A8C9E1533
GO
Isoform Sap-mu-6 (identifier: P07602-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     259-259: M → MDQ

Show »
Length:526
Mass (Da):58,356
Checksum:i2A6E54624BA9D814
GO
Isoform Sap-mu-9 (identifier: P07602-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     260-260: Q → QDQQ

Show »
Length:527
Mass (Da):58,484
Checksum:i293FBB7472D82BD0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JIZ6C9JIZ6_HUMAN
Prosaposin
PSAP
527Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YXB8A0A0J9YXB8_HUMAN
Prosaposin
PSAP
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5BJH1Q5BJH1_HUMAN
PSAP protein
PSAP
240Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti369L → P in CAG33027 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04244070Missing in AKRD. 1 Publication1
Natural variantiVAR_031823215N → H in MLD-SAPB; reduces the intracellular activity of the protein significantly. 1 PublicationCorresponds to variant dbSNP:rs121918107EnsemblClinVar.1
Natural variantiVAR_031899215N → K in MLD-SAPB. 1 PublicationCorresponds to variant dbSNP:rs770171865Ensembl.1
Natural variantiVAR_006943217T → I in MLD-SAPB; juvenile; affects glycosylation at N-215. 2 PublicationsCorresponds to variant dbSNP:rs121918103EnsemblClinVar.1
Natural variantiVAR_006944241C → S in MLD-SAPB; severe. 1 PublicationCorresponds to variant dbSNP:rs121918104EnsemblClinVar.1
Natural variantiVAR_042441349L → P in AGD. 1 PublicationCorresponds to variant dbSNP:rs121918110Ensembl.1
Natural variantiVAR_006945388C → F in AGD. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006014259M → MDQ in isoform Sap-mu-6. Curated1
Alternative sequenceiVSP_006015260Q → QDQQ in isoform Sap-mu-9. Curated1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J03077 mRNA Translation: AAA52560.1
D00422 mRNA Translation: BAA00321.1
BT006849 mRNA Translation: AAP35495.1
CR456746 mRNA Translation: CAG33027.1
AC073370 Genomic DNA No translation available.
AL731541 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54437.1
BC001503 mRNA Translation: AAH01503.1
BC004275 mRNA Translation: AAH04275.1
BC007612 mRNA Translation: AAH07612.1
M86181 Genomic DNA No translation available.
X57107 Genomic DNA Translation: CAA40391.1
X57108 Genomic DNA Translation: CAA40392.1
M12710 mRNA No translation available.
J03015 mRNA Translation: AAB59494.1
M32221 mRNA Translation: AAA60303.1
M60257 mRNA Translation: AAA36595.1
M60258 mRNA Translation: AAA36596.1
M60255 mRNA Translation: AAA36594.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7311.1 [P07602-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
JX0061 SAHUP

NCBI Reference Sequences

More...
RefSeqi
NP_001035930.1, NM_001042465.2 [P07602-3]
NP_001035931.1, NM_001042466.2 [P07602-2]
NP_002769.1, NM_002778.3 [P07602-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.523004

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000394936; ENSP00000378394; ENSG00000197746 [P07602-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
5660

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:5660

UCSC genome browser

More...
UCSCi
uc001jsm.4 human [P07602-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03077 mRNA Translation: AAA52560.1
D00422 mRNA Translation: BAA00321.1
BT006849 mRNA Translation: AAP35495.1
CR456746 mRNA Translation: CAG33027.1
AC073370 Genomic DNA No translation available.
AL731541 Genomic DNA No translation available.
CH471083 Genomic DNA Translation: EAW54437.1
BC001503 mRNA Translation: AAH01503.1
BC004275 mRNA Translation: AAH04275.1
BC007612 mRNA Translation: AAH07612.1
M86181 Genomic DNA No translation available.
X57107 Genomic DNA Translation: CAA40391.1
X57108 Genomic DNA Translation: CAA40392.1
M12710 mRNA No translation available.
J03015 mRNA Translation: AAB59494.1
M32221 mRNA Translation: AAA60303.1
M60257 mRNA Translation: AAA36595.1
M60258 mRNA Translation: AAA36596.1
M60255 mRNA Translation: AAA36594.1
CCDSiCCDS7311.1 [P07602-1]
PIRiJX0061 SAHUP
RefSeqiNP_001035930.1, NM_001042465.2 [P07602-3]
NP_001035931.1, NM_001042466.2 [P07602-2]
NP_002769.1, NM_002778.3 [P07602-1]
UniGeneiHs.523004

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1M12NMR-A311-390[»]
1N69X-ray2.20A/B/C195-273[»]
1SN6NMR-A311-390[»]
2DOBX-ray2.00A60-140[»]
2GTGX-ray2.40A311-391[»]
2QYPX-ray2.45A/B311-392[»]
2R0RX-ray2.50A/B407-484[»]
2R1QX-ray2.50A407-484[»]
2RB3X-ray2.10A/B/C/D407-484[»]
2Z9AX-ray2.50A/B311-389[»]
3BQPX-ray1.30A/B405-484[»]
3BQQX-ray2.00A/B/C/D405-484[»]
4DDJX-ray1.90A60-140[»]
4UEXX-ray1.80A/B60-142[»]
4V2OX-ray2.13A/B/C195-273[»]
DisProtiDP00733
ProteinModelPortaliP07602
SMRiP07602
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111639, 45 interactors
CORUMiP07602
DIPiDIP-29803N
IntActiP07602, 23 interactors
MINTiP07602
STRINGi9606.ENSP00000378394

Chemistry databases

ChEMBLiCHEMBL3580523
DrugBankiDB01966 Di-Stearoyl-3-Sn-Phosphatidylethanolamine

Protein family/group databases

TCDBi1.C.35.2.1 the amoebapore (amoebapore) family

PTM databases

GlyConnecti1645
545
546
548
549
iPTMnetiP07602
PhosphoSitePlusiP07602
UniCarbKBiP07602

Polymorphism and mutation databases

BioMutaiPSAP
DMDMi134218

Proteomic databases

EPDiP07602
jPOSTiP07602
PaxDbiP07602
PeptideAtlasiP07602
PRIDEiP07602
ProteomicsDBi52019
52020 [P07602-2]
52021 [P07602-3]
TopDownProteomicsiP07602-1 [P07602-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
5660
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000394936; ENSP00000378394; ENSG00000197746 [P07602-1]
GeneIDi5660
KEGGihsa:5660
UCSCiuc001jsm.4 human [P07602-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
5660
DisGeNETi5660
EuPathDBiHostDB:ENSG00000197746.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PSAP
HGNCiHGNC:9498 PSAP
HPAiCAB004647
HPA004426
MalaCardsiPSAP
MIMi176801 gene
249900 phenotype
610539 phenotype
611721 phenotype
611722 phenotype
neXtProtiNX_P07602
OpenTargetsiENSG00000197746
Orphaneti309252 Atypical Gaucher disease due to saposin C deficiency
139406 Encephalopathy due to prosaposin deficiency
206436 Infantile Krabbe disease
309271 Metachromatic leukodystrophy, adult form
309263 Metachromatic leukodystrophy, juvenile form
309256 Metachromatic leukodystrophy, late infantile form
PharmGKBiPA33845

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1340 Eukaryota
ENOG410XSI5 LUCA
GeneTreeiENSGT00940000156695
HOVERGENiHBG002617
InParanoidiP07602
KOiK12382
OrthoDBi865505at2759
PhylomeDBiP07602
TreeFamiTF316942

Enzyme and pathway databases

ReactomeiR-HSA-114608 Platelet degranulation
R-HSA-1660662 Glycosphingolipid metabolism
R-HSA-375276 Peptide ligand-binding receptors
R-HSA-418594 G alpha (i) signalling events
R-HSA-6798695 Neutrophil degranulation

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PSAP human
EvolutionaryTraceiP07602

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Prosaposin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
5660

Protein Ontology

More...
PROi
PR:P07602

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197746 Expressed in 243 organ(s), highest expression level in visceral pleura
CleanExiHS_PSAP
ExpressionAtlasiP07602 baseline and differential
GenevisibleiP07602 HS

Family and domain databases

InterProiView protein in InterPro
IPR003119 SAP_A
IPR007856 SapB_1
IPR008138 SapB_2
IPR008373 Saposin
IPR011001 Saposin-like
IPR021165 Saposin_chordata
IPR008139 SaposinB_dom
PfamiView protein in Pfam
PF02199 SapA, 2 hits
PF05184 SapB_1, 4 hits
PF03489 SapB_2, 4 hits
PIRSFiPIRSF002431 Saposin, 1 hit
PRINTSiPR01797 SAPOSIN
SMARTiView protein in SMART
SM00162 SAPA, 2 hits
SM00741 SapB, 4 hits
SUPFAMiSSF47862 SSF47862, 4 hits
PROSITEiView protein in PROSITE
PS51110 SAP_A, 2 hits
PS50015 SAP_B, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSAP_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P07602
Secondary accession number(s): P07292
, P15793, P78538, P78541, P78546, P78547, P78558, Q53Y86, Q6IBQ6, Q92739, Q92740, Q92741, Q92742
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: August 1, 1990
Last modified: January 16, 2019
This is version 230 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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