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PSAP Gene

protein-coding GIFtS: 63

GC10M073246

prosaposin
(Previous name: sphingolipid activator protein-1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: SAP1, GLBA)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
FLJ00245 ^²
GLBA ^², ³
MGC110993 ^²
OTTHUMP00000019776 ^²
SAP1 ^², ³, ⁵
prosaposin ^²

Descriptions
sphingolipid activator protein-1 ^¹, ²

External Ids
HGNC: 9498¹
Entrez Gene: 5660²
UniProtKB: P07602³
Ensembl: ENSG00000197746⁷

Search outside databases for aliases for PSAP gene

Previous GC identifers: GC10M072354 GC10M072679 GC10M073468 GC10M072920

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for PSAP:

This gene encodes a highly conserved glycoprotein which is a precursor for 4 cleavage products:

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, Tay-Sachs disease, and metachromatic

leukodystrophy. Alternative splicing results in multiple transcript variants encoding different

isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602

Function: Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)

Gene Wiki entry for PSAP (Prosaposin)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the PSAP gene

Entrez Gene cytogenetic band: 10q21-q22 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q21-q22

PSAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M073246: (about GC identifiers)

Start:	73,246,061 bp from pter
End:	73,281,132 bp from pter
Size:	35,072 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000010.9 NT_008583.16

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602 (See protein sequence)

Recommended Name: Proactivator polypeptide precursor

Size: 524 amino acids; 58113 Da

Subunit: Saposin-B is a homodimer

Subcellular location: Lysosome

Miscellaneous: Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine

PDB structures from and Proteopedia :

1M12 (3D)

1N69 (3D)

1SN6 (3D)

2DOB (3D)

2GTG (3D)

2QYP (3D)

2R0R (3D)

2R1Q (3D)

2RB3 (3D)

2Z9A (3D)

3BQP (3D)

3BQQ (3D)

Secondary accessions: P07292 P15793 P78538 P78541 P78546 P78547 P78558 Q6IBQ6 Q92739 Q92740 Q92741

Q92742

Alternative splicing: 3 isoforms: P07602-1 P07602-2 P07602-3 (Additional isoforms seem to exist)

Post-translational modifications:

This precursor is proteolytically processed to 4 small peptides, which are similar to each other

and are sphingolipid hydrolase activator proteins¹

N-linked glycans show a high degree of microheterogeneity¹

The one residue extended Saposin-B-Val is only found in 5% of the chains¹

REFSEQ proteins (3 alternative transcripts):

NP_001035930.1 NP_001035931.1 NP_002769.1

ENSEMBL proteins:

ENSP00000350063 ENSP00000378394 ENSP00000362212 ENSP00000384385 ENSP00000378392 ENSP00000385911

ENSP00000378398 ENSP00000378387

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (PSAP)
	Human Recombinant Proteins from Abnova (PSAP)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005615	extracellular space	TAS	1454804
GO:0005764	lysosome	IEA	--
GO:0005794	Golgi apparatus	IDA	18029348
GO:0016021	integral to membrane	TAS	1454804

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Antibodies for PSAP:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for PSAP
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (PSAP), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (PSAP)
	Novus Biologicals Antibodies for PSAP

Assays for PSAP:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P07602

ProtoNet protein and cluster: P07602

3 Blocks protein families:

IPB008139 Saposin B

IPB008140 Saposin B subdomain

IPB008373 Saposin signature

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602

Similarity: Contains 2 saposin A-type domains

Similarity: Contains 4 saposin B-type domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PSAP)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PSAP)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_002778

Applied Biosystems Silencer® siRNAs for PSAP

Sigma-Aldrich siRNA and siRNA Panels for PSAP

Sigma-Aldrich shRNA for PSAP

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for PSAP
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001042465
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001042465
untagged cDNA clones in CMV expression vector (see all 3): NM_001042465

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001042465

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602

Function: The lysosomal degradation of sphingolipids takes place by the sequential action of

specific hydrolases. Some of these enzymes require specific low-molecular mass, non-enzymic

proteins: the sphingolipids activator proteins (coproteins)

Function: 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

Function: 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

Function: Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12)

Genatlas biochemistry entry for PSAP:

prosaposin,lysosomal,sphingolipid hydrolase proactivator protein processed to

SAPA,SAPB,SAPC,SAPD,ordered 5'->3' on the precursor

15/21 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Psap) (see all 21 ):

	behavior/neurological	digestive/alimentary	endocrine/exocrine gland	growth/size
hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system	muscle	nervous system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008047	enzyme activator activity	TAS	2717620
GO:0008289	lipid binding	TAS	1454804

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for PSAP (Your Favorite Gene powered by Ingenuity)

Lipid Antigen Presentation by CD1

GeneDecks PSAP for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for PSAP

5/22 Interacting proteins for PSAP (ENSP00000362212³ P07602²) via UniProtKB, MINT, and/or STRING (see all 22 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GHR	P10912²	MINT-6797604 MINT-6797576 MINT-6797801 MINT-6797475
CELSR1	Q9NYQ6²	MINT-65660
COPS6	Q7L5N1²	MINT-63423
MAFF	Q9ULX9²	MINT-65765
PRAGMIN	Q86YV5²	MINT-64847

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	IEA	--
GO:0006687	glycosphingolipid metabolic process	TAS	1454804
GO:0006869	lipid transport	TAS	1454804
GO:0007040	lysosome organization	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for PSAP
10/34 Novoseek chemical compound relationships for PSAP gene (see all 34 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glucosylceramide	87.25	18	9201993 (2), 7654196 (1), 16289479 (1), 17803231 (1) (see all 13)
sulfatide	83.73	33	14528917 (2), 1350885 (2), 11045609 (2), 8099782 (2) (see all 13)
galactosylceramide	73.22	22	9409731 (7), 2120388 (3), 16823039 (1), 11371512 (1) (see all 6)
dioleoyl phosphatidylserine	73.04	2	16179529 (1), 16256068 (1)
4-methylumbelliferyl-beta-d-glucoside	72.56	1	2120388 (1)
ceramide	69.41	28	9204210 (4), 8203897 (3), 15345707 (2), 10406958 (2) (see all 15)
ganglioside	68.99	50	1634229 (4), 8737244 (3), 8099782 (3), 8050611 (2) (see all 12)
ccpa	67.67	8	15023355 (1), 15500982 (1), 17449687 (1), 16316990 (1) (see all 8)
l-bpa	67.09	5	15652344 (5)
dops	66.76	3	16289479 (1), 16179529 (1), 16256068 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (PSAP)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (PSAP)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_002778

Sigma-Aldrich siRNA and siRNA Panels for PSAP

Sigma-Aldrich shRNA for PSAP

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001042465 NM_001042466 NM_002778

REFSEQ mRNAs for PSAP gene (3 alternative transcripts):

NM_001042465.1 NM_001042466.1 NM_002778.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001042465 NM_001042466 NM_002778

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001042465
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001042465
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001042465

Additional cDNA sequence:

AB209776.1 AK057878.1 AK129790.1 AK223290.1 AK293672.1 AK299184.1 AK307721.1 BC001503.2

BC004275.1 BC007612.1 BC091483.1 BT006849.1 CR456746.1 CR591875.1 CR594967.1 CR595661.1

CR596283.1 CR597622.1 CR597796.1 CR599745.1 CR600349.1 CR610308.1 CR611435.1 CR612207.1

CR615641.1 CR616446.1 CR617297.1 CR619008.1 D00422.1 J03015.1 J03077.1 M12710.1

M32221.1 M60255.1 M60257.1 M60258.1 M81355.1

24/84 DOTS entries (see all 84 ):

DT.95376855 DT.91858744 DT.91812544 DT.91812575 DT.100710516 DT.100045907 DT.100710495 DT.101957950

DT.121260822 DT.95377054 DT.100710520 DT.100710502 DT.91813686 DT.95377087 DT.100710503 DT.100798968

DT.100865395 DT.100710521 DT.100710517 DT.100861184 DT.95376992 DT.100853080 DT.121260584 DT.121260713

24/3352 AceView cDNA sequences (see all 3352 ):

AA311769 BP366025 F30986 BU188951 BQ889711 BQ269774 BM508113 AA365017

BM811382 BQ277886 BU527190 CF130061 BP335336 BQ233502 BU542249 BU626520

AI061080 BU543033 CA395521 N71752 BU149852 H28763 CF126532 AU077154

highest scoring ESTs for PSAP:

J03077 AA336621 AA683080 AL035751 AL514032 AL516046 AL518138 AL532552 AL540425 AL542408

Unigene Cluster for PSAP:

Prosaposin

Hs.523004 [show with all ESTs]

Unigene Representative Sequence: NM_001042465

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for PSAP (see all 9 )

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b	·	9c	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14a	·	14b	^	15a	·	15b	·	15c
SP1:																							-														-
SP2:													-		-		-		-		-		-		-		-		-		-						-
SP3:																							-
SP4:																							-
SP5:							-

About this scheme

ECgene alternative splicing isoforms for PSAP

8 Ensembl transcripts including schematic representations:

ENST00000357471 ENST00000394936 ENST00000373120 ENST00000404083 ENST00000394934 ENST00000402059

ENST00000394940 ENST00000394929

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

PSAP expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for PSAP

¹ / ² / ³

5 probe-sets matching PSAP gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36795_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	J03077	1.00	0.90	0.95	1
200866_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M32221	0.80	0.88	0.84	1
200871_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_002778	0.60	1.00	0.82	1
200866_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
200871_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: AAGTTGCTAT

SOURCE GeneReport for Unigene cluster: Hs.523004
Expression variation in blood from EXPOLDB for PSAP

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for PSAP gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	PSAP¹	--	prosaposin	86.88(n) 85.17(a)	479240 XM_856497.1 XP_861590.1
chimpanzee (Pan troglodytes)	PSAP¹	--	prosaposin	99.75(n) 99.81(a)	450517 XM_507840.2 XP_507840.2
cow (Bos taurus)	PSAP¹	--	prosaposin	85.31(n) 84.54(a)	281433 NM_174161.2 NP_776586.1
rat (Rattus norvegicus)	Psap¹	--	prosaposin	77.12(n) 70.36(a)	25524 NM_013013.1 NP_037145.1
mouse (Mus musculus)	Psap^{1, 5}	10 (35.00 cM)⁵	prosaposin^{1, 5}	75.94(n)¹ 68(a)¹	19156¹ NM_011179.2¹ NP_035309.2¹ AC079082⁵ AI037048⁵ (see all 163)

About this table Species with no ortholog for PSAP

ENSEMBL Gene Tree for PSAP

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for PSAP gene

PSAPL1² SFTPB²

Pseudogenes

1 related pseudogene

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/254 NCBI SNPs in PSAP are shown (see all 254 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 140)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2070188^1,2	A,C,F,H,O	73280988(-)	`GACGGC/TGCTAT`	3	--	ut5¹		20		EA NA EU WA	3244
	rs7869^1,2	A,C,F,H	73246313(-)	`ATGGCG/AAGCTC`	3	--	ut3¹ ese³		9		MN NA EU EA	998
	rs7898293^1,2	A,C,F,H	73282283(+)	`ggtagA/Ggatag`	3	--	ng3¹ tfbs³		8		EU EA WA	816
	rs4747209^1,2	A,C,F,H	73281922(+)	`GGTACC/TGTTaa`	3	--	ng3¹		8		EU EA WA	826
	rs4747210^1,2	F,H	73282288(+)	`agataG/Aaacct`	3	--	ng3¹ tfbs³		4		EU EA WA	394
	rs12261323^1,2	F,H	73281114(+)	`AGCTCA/GACAGC`	3	--	ng3¹		4		EU EA WA	382
--	rs11598617^1,2	C	73282908(+)	`cttgcA/Cgtgag`	3	--	ng3¹		0	--	--	--	--
--	rs9299509^1,2	C	73282978(+)	`aaaaaA/Caaaca`	3	--	ng3¹ tfbs³		0	--	--	--	--
--	rs9299510^1,2	C	73282982(+)	`acaaaA/Caaaaa`	3	--	ng3¹ tfbs³		0	--	--	--	--
	rs720295^1,2	A,C,F,H,O	73267358(+)	`GACTGC/TGCAGA`	3	--	int¹		5		NA EU EA WA	502

About this table

HapMap Linkage Disequilibrium images for PSAP (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 176801 disorders: 249900 610539 611721 611722

UniProtKB/Swiss-Prot: SAP_HUMAN, P07602

Defects in PSAP are the cause of combined saposin deficiency (CSAPD) [MIM:611721]; also

known as prosaposin deficiency. CSAPD is due to absence of all saposins, leading to a fatal

storage disorder with hepatosplenomegaly and severe neurological involvement

Defects in PSAP saposin-B region are the cause of a variant of metachromatic

leukodystrophy (MLD) [MIM:249900]

Defects in PSAP saposin-C region are the cause of atypical Gaucher disease (AGD)

[MIM:610539]. Affected individuals have marked glucosylceramide accumulation in the spleen without

having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher

disease, a lysosomal storage disorder

Defects in PSAP saposin-A region are the cause of atypical Krabbe disease (AKRD)

[MIM:611722]. AKRD is a disorder of galactosylceramide metabolism. AKRD features include

progressive encephalopathy and abnormal myelination in the cerebral white matter resembling Krabbe

disease

Defects in PSAP saposin-D region are the cause of a variant of Tay-Sachs disease

(GM2-gangliosidosis)

10/39 Novoseek disease relationships for PSAP gene (see all 39 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
leukodystrophy metachromatic	83.24	23	1689485 (2), 10196694 (2), 18693274 (2), 2302219 (2) (see all 12)
gaucher disease	79.04	18	15856305 (2), 9225972 (2), 2110365 (1), 2225530 (1) (see all 13)
sphingolipidoses	78.14	4	9821868 (1), 9225972 (1), 11309366 (1)
krabbe disease	78.05	8	11371512 (3), 14572137 (2), 12810822 (1), 15773042 (1)
sialidosis	73.09	7	1634229 (2), 8003252 (1)
i-cell disease	71.96	2	14657016 (1), 15236333 (1)
gangliosidosis gm1	68.75	2	2110365 (1), 10489949 (1)
type 2 gaucher disease	66.31	3	8370580 (1), 8577053 (1)
lysosomal storage diseases	65.81	3	11068181 (1), 14680985 (1), 16179529 (1)
type 3 gaucher disease	61.29	2	8577053 (1)

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1 PharmGKB disease relationship for PSAP gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

About this table

Genatlas disease: PSAP

sphingolipid activator proteins 1 and 2,combined deficiency

Human Gene Mutation Database: PSAP
Human Genome Epidemiology Navigator: PSAP (22 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/260 PubMed articles for PSAP gene (see all 260 ):

Saposin A: second cerebrosidase activator protein. (PubMed id 2717620)^{2, 3, 4} Morimoto S....Kishimoto Y. (1989)
Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins). (PubMed id 8323276)^{1, 3, 4} Hiraiwa M.... Martin B.M. (1993)
Structural and membrane-binding properties of saposin D. (PubMed id 10406958)^{1, 3, 4} Tatti M.... Vaccaro A.M. (1999)
Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. (PubMed id 2320574)^{1, 3, 4} Kretz K.A....O'Brien J.S. (1990)
Preparation of the cerebroside sulfate activator (CSAct or saposin B) from human urine. (PubMed id 10562467)^{1, 3, 4} Fluharty A.L.... Faull K.F. (1999)
Structural analysis of saposin C and B. Complete localization of disulfide bridges. (PubMed id 7730378)^{1, 3, 4} Vaccaro A.M.... Pucci P. (1995)
Isolation and characterization of prosaposin from human milk. (PubMed id 1958198)^{1, 3, 4} Kondoh K.... Kakimoto Y. (1991)
Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. (PubMed id 2302219)^{1, 3, 4} Rafi M.A.... Wenger D.A. (1990)
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. (PubMed id 2060627)^{1, 3, 4} Schnabel D.... Sandhoff K. (1991)
Expression, purification, crystallization, and preliminary X-ray analysis of recombinant human saposin B. (PubMed id 12510003)^{1, 3, 4} Ahn V.E....Prive G.G. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5660	HGNC: 9498	AceView: PSAP	Ensembl:ENSG00000197746	euGenes: HUgn5660
ECgene: PSAP	H-InvDB: PSAP

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for PSAP	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=PSAP

Licensable Technologies for PSAP
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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for PSAP:

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PSAP Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for PSAP

Summaries
for PSAP

Genomic Location
for PSAP

Proteins
for PSAP

Protein Domains/
Families
for PSAP

Gene Function
for PSAP

Pathways & Interactions
for PSAP

Drugs & Compounds
for PSAP

Transcripts
for PSAP

Expression
for PSAP

Orthologs
for PSAP

Paralogs
for PSAP

SNPs/Variants
for PSAP

Disorders & Mutations
for PSAP

Medical News
for PSAP

Publications
for PSAP

Search for PSAP

Genome Databases showing PSAP

Other Databases showing PSAP

Specialized Databases showing PSAP

Licensable Technologies
for PSAP

Services
for PSAP

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

PSAP Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor PSAP

Summariesfor PSAP

Genomic Locationfor PSAP

Proteinsfor PSAP

Protein Domains/Familiesfor PSAP

Gene Functionfor PSAP

Pathways & Interactionsfor PSAP

Drugs & Compoundsfor PSAP

Transcriptsfor PSAP

Expression for PSAP

Orthologsfor PSAP

Paralogsfor PSAP

SNPs/Variantsfor PSAP

Disorders & Mutationsfor PSAP

Medical Newsfor PSAP

Publicationsfor PSAP

Search for PSAP

Genome Databases showing PSAP

Other Databases showing PSAP

Specialized Databases showing PSAP

Licensable Technologiesfor PSAP

Servicesfor PSAP

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for PSAP

Summaries
for PSAP

Genomic Location
for PSAP

Proteins
for PSAP

Protein Domains/
Families
for PSAP

Gene Function
for PSAP

Pathways & Interactions
for PSAP

Drugs & Compounds
for PSAP

Transcripts
for PSAP

Expression
for PSAP

Orthologs
for PSAP

Paralogs
for PSAP

SNPs/Variants
for PSAP

Disorders & Mutations
for PSAP

Medical News
for PSAP

Publications
for PSAP

Licensable Technologies
for PSAP

Services
for PSAP