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H-Invitational ID: HIT000493808 Accession number: AK299184 Created date: 26-Mar-2013 Last modified: 27-May-2015
Definition: Proactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
 
 

Transcript original information
Accession number AK299184.1
CAGE tag ID NA
EST ID NA
Clone Number NT2RP7001655
Experimental resources NBRC: NITE Biological Resource Center  NBRC ; HGPD: Human Gene and Protein Database HGPD ; Antibody: searching human antibodies at "BIO-kaimono.com" Antibody (PSAP) ; Catalog: searching experimental product catalogs at "BIO-kaimono.com" Catalog (PSAP);
Sequence data provider NA
Annotation project NA
Length of cDNA 1809[bp] (No. of exon:14)[A:423 T:400 G:512 C:474]
Devision HUM
Molecular type mRNA
Library origin Cell type teratocarcinoma
Tissue type NA
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA NA
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG;  TAGGAG; 
Transcript quality feature Truncation; 
Notes NA

Gene structure information  G-integra H-DBAS cDNA-genome alignment
H-Inv cluster ID HIX0008908
Genomic location  G-integra Help Chromosome 10
Location 10q22.1
Position 73577037- 73611042
Strand -
Possible duplicated location(s) NA
Gene structure 14 exon(s)
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5660
KEGG GENES KEGG GENES(5660)
GeneCard GeneCardPSAP*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links H-DBASH-DBAS G-integraG-integra cDNA-genome alignmentcDNA-genome alignment

Predicted CDS information
HIP ID HIP000252957
Predicted CDS 65..1648;  527[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.821

Motif information
ORF

length(527),orf(65:1648)
MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHYLQ
TVWNKPTVKSLPCVICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKP
NMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH
QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQD
CIQMVTDIQTAVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSE
IAIQMMMHMQDQQPKEICALVGFCDEVKEMPMQTLVPAKVASKDVIPALE
LVEPIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCS
KLPKSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTRLPALT
VHVTQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEIPAALEKGCSFLPDPY
QKQCDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIW
GPSYWCQNTETAAQCNAVEHCKRHVWN*
a.a.
length
InterPro Name
length(25), motif(18:42) 25 IPR008373 Saposin [Family]
length(41), motif(18:58) 41 IPR003119 Saposin type A [Domain]
length(34), motif(21:54) 34 IPR003119 Saposin type A [Domain]
length(21), motif(47:67) 21 IPR008373 Saposin [Family]
length(81), motif(59:139) 81 IPR011001 Saposin-like [Domain]
length(84), motif(59:142) 84 IPR008139 Saposin B [Domain]
length(82), motif(60:141) 82 IPR011001 Saposin-like [Domain]
length(78), motif(61:138) 78 IPR008139 Saposin B [Domain]
length(38), motif(61:98) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(18), motif(77:94) 18 IPR008373 Saposin [Family]
length(34), motif(105:138) 34 IPR008138 Saposin-like type B, 2 [Domain]
length(19), motif(128:146) 19 IPR008373 Saposin [Family]
length(26), motif(156:181) 26 IPR008373 Saposin [Family]
length(82), motif(194:275) 82 IPR011001 Saposin-like [Domain]
length(85), motif(194:278) 85 IPR008139 Saposin B [Domain]
length(40), motif(195:234) 40 IPR007856 Saposin-like type B, 1 [Domain]
length(79), motif(196:274) 79 IPR008139 Saposin B [Domain]
length(22), motif(197:218) 22 IPR008373 Saposin [Family]
length(22), motif(233:254) 22 IPR008373 Saposin [Family]
length(117), motif(237:353) 117 IPR011001 Saposin-like [Domain]
length(37), motif(238:274) 37 IPR008138 Saposin-like type B, 2 [Domain]
length(80), motif(313:392) 80 IPR011001 Saposin-like [Domain]
length(82), motif(314:395) 82 IPR008139 Saposin B [Domain]
length(76), motif(316:391) 76 IPR008139 Saposin B [Domain]
length(38), motif(316:353) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(21), motif(318:338) 21 IPR008373 Saposin [Family]
length(92), motif(356:447) 92 IPR011001 Saposin-like [Domain]
length(35), motif(357:391) 35 IPR008138 Saposin-like type B, 2 [Domain]
length(19), motif(367:385) 19 IPR008373 Saposin [Family]
length(80), motif(408:487) 80 IPR011001 Saposin-like [Domain]
length(82), motif(408:489) 82 IPR008139 Saposin B [Domain]
length(23), motif(409:431) 23 IPR008373 Saposin [Family]
length(76), motif(410:485) 76 IPR008139 Saposin B [Domain]
length(38), motif(410:447) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(23), motif(441:463) 23 IPR008373 Saposin [Family]
length(78), motif(449:526) 78 IPR011001 Saposin-like [Domain]
length(34), motif(452:485) 34 IPR008138 Saposin-like type B, 2 [Domain]
length(24), motif(463:486) 24 IPR008373 Saposin [Family]
length(37), motif(491:527) 37 IPR003119 Saposin type A [Domain]
length(22), motif(492:513) 22 IPR008373 Saposin [Family]
length(34), motif(494:527) 34 IPR003119 Saposin type A [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000493808
H-Inv cluster ID Locus viewHIX0008908
Accession number AK299184.1
CAGE tag ID NA
EST ID NA
Transcript feature  Help NO; 
Coding potential  Help Protein coding; 
Definition Proactivator polypeptide; Contains: Saposin-A; Protein A; Contains: Saposin-B-Val; Contains: Saposin-B; Cerebroside sulfate activator; CSAct; Dispersin; Sphingolipid activator protein 1; SAP-1; Sulfatide/GM1 activator; Contains: Saposin-C; A1 activator; Co-beta-glucosidase; Glucosylceramidase activator; Sphingolipid activator protein 2; SAP-2; Contains: Saposin-D; Component C; Protein C; Precursor;
Similarity category  Help Category: Identical to known human protein(Category I).
Identical to known human protein (P07602)  [Identity/coverage = 98.672%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1371116161259019581982013321201958620606272209618230221923205742498298251515027176202825202284286328459792868718304830832425553442600773037878664018323276837046410196694104069581051042710562467106823091118063211309366125100031251805315164054154893341577304217919309191592181916732921269460ALL
Gene family/group Gene family H-Inv gene family/group ID NA
Gene family/group name NA
Evidence motif (InterPro) ID NA
Gene symbol/name HGNC symbol PSAP
HGNC aliases "sphingolipid activator protein-1"
HGNC name prosaposin
DDBJ NA
UniProt PSAP
EC number NA
GGDB
(GlycoGene Database)
Gene symbol NA
Familly NA
Designation NA
Expression NA
KEGG metabolic pathway NA
Protein-protein interaction (PPI) PPI viewer H-Inv protein ID HIP000252957
No. of interaction 42
Interaction partner(s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
BIND 149938;  150543;  262675; 
DIP 103975E;  112158E; 
MINT MINT-2866200;  MINT-60928;  MINT-62098;  MINT-63423;  MINT-65660;  MINT-65765;  MINT-6797475;  MINT-6797576;  MINT-6797604;  MINT-6797801; 
HPRD 00291;  01775;  02170;  02971;  03013;  03883;  04484;  05160;  05343;  06973;  07255;  16735; 
IntAct NA
Database links RefSeq NA
Ensembl NA
Entrez Gene Entrez Gene ID:5660
KEGG GENES KEGG GENES(5660)
GeneCard GeneCardPSAP*GeneCards is provided free to academic non-profit institutions.
etc H-GOLDHuman-Gene diversity Of Life-style related Diseases
Curation status Auto-annotated
Notes NA
Related H-InvDB links Gene familyGene family;  Similarity Search ToolSimilarity Search Tool;  TACTTACT
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome. 
NA

Gene ontology information
Biological process sphingolipid metabolic process (GO:0006665);  lipid metabolic process (GO:0006629); 
Cellular component lysosome (GO:0005764); 

Subcellular localization information  Last modified:27-May-2015
WoLF PSORT plasma membrane;  endoplasmic;  peroxisome;  Other; 
Target P signal peptide
SOSUI membrane protein
TMHMM soluble protein
PTS1 Not targeted
Related H-InvDB links LIFEdb LIFEdb; 
JRE-1.4.0 or later is required. Download JRE at Sun's web site.

Protein structure information (GTOP) GTOP Last modified:27-May-2015
Start End PDB_ID E-value Identity Coverage SCOP_ID
63 138 2gtgA1 2e-12 42.1 74/78 a.64.1.1
195 275 1n69A 8e-13 100.0 78/78 a.64.1.3
315 392 2gtgA1 4e-15 79.5 78/78 a.64.1.1
412 485 2gtgA1 7e-14 35.1 74/78 a.64.1.1
Related H-InvDB links GTOP GTOP

Disease/pathology information  DiseaseInfo Viewer LEGENDA Last modified:27-May-2015
Disease relation Disease name: Combined SAP deficiency (611721);  Disease name: Gaucher disease, atypical (610539);  Disease name: Krabbe disease, atypical (611722);  Disease name: Metachromatic leukodystrophy due to SAP-b deficiency (249900); 
Related information in OMIM OMIM ID:  176801;  Title: PROSAPOSIN
Co-localized orphan diseases NA
Disease related mutation MutationView:  176801
JRE-1.4.0 or later is required.Download JRE at Sun's web site.
Literature-Extracted GENe-Disease Associations (LEGENDA) LEGENDA Gene name Entrez Gene ID:(5660)
Disease Entrez Gene ID:(5660)
Substance Entrez Gene ID:(5660)
Related H-InvDB links DiseaseInfo ViewerDiseaseInfo ViewerLEGENDALEGENDA

Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information  VaryGene Repeat mask viewer
 Single Nucleotide Polymorphism (SNP) and indel  VaryGene
Location Variation dbSNP ID Strand CDS/UTR Translation
28 .. 28 A/G rs79410903 - 5'UTR
32 .. 32 T/C rs143987544 - 5'UTR
36 .. 36 C/T rs201780377 - 5'UTR
54 .. 54 C/G rs28365839 + 5'UTR
55 .. 55 A/G rs76455588 - 5'UTR
61 .. 61 C/T rs2070188 + 5'UTR
65 .. 65 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
80 .. 80 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
100 .. 100 C/G rs11555014 + CDS Synonymous[Gly12Gly]
112 .. 112 C/T rs199808371 - CDS Synonymous[Ala16Ala]
124 .. 124 T/C rs188252882 - CDS Synonymous[Leu20Leu]
131 .. 131 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
135 ^ 136 -/A rs34228343 - CDS
142 .. 142 C/T rs74145688 - CDS Synonymous[Thr26Thr]
147 .. 147 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
152 .. 152 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
158 .. 158 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
177 .. 177 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
181 .. 181 G/A rs200836594 - CDS Synonymous[Ala39Ala]
184 .. 184 C/T rs141231601 - CDS Synonymous[Ser40Ser]
211 .. 211 G/A rs112119208 - CDS Synonymous[Leu49Leu]
217 .. 217 C/T rs11555016 + CDS Synonymous[Thr51Thr]
218 .. 218 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
253 .. 253 C/T rs111369573 - CDS Synonymous[Cys63Cys]
268 .. 268 C/T rs143981174 - CDS Synonymous[Asp68Asp]
278 .. 278 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
281 .. 281 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
409 .. 409 T/G rs11555017 + CDS Synonymous[Pro115Pro]
422 .. 422 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
443 .. 443 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
552 .. 552 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
604 .. 604 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
613 .. 613 C/T rs142002239 - CDS Synonymous[Asp183Asp]
620 .. 620 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
621 .. 621 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
629 .. 629 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
634 .. 634 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
641 .. 641 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
642 .. 642 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
646 .. 646 T/C rs150177878 - CDS Synonymous[Asn194Asn]
653 .. 653 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
680 .. 680 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
685 .. 685 C/T rs140702696 - CDS Synonymous[Asp207Asp]
687 .. 687 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
701 .. 701 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
707 .. 707 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
714 .. 714 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
759 .. 759 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
761 .. 761 C/T/G rs146934980 - CDS
778 .. 778 C/G rs141199649 - CDS Synonymous[Ala238Ala]
786 .. 786 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
787 .. 787 C/T rs147805036 - CDS Synonymous[Cys241Cys]
796 .. 796 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
805 .. 805 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
844 .. 844 G/C rs112041816 - CDS Nonsynonymous[Gln260His]
847 .. 847 T/A rs113827790 - CDS Nonsynonymous[Asp261Glu]
871 .. 871 G/A rs199672678 - CDS Synonymous[Ala269Ala]
895 .. 895 G/A rs149202005 - CDS Synonymous[Val277Val]
938 .. 938 T/C rs145404688 - CDS Nonsynonymous[Ser292Pro]
967 .. 967 G/A rs150048951 - CDS Synonymous[Leu301Leu]
987 .. 987 A/G rs113554687 - CDS Nonsynonymous[His308Arg]
1013 .. 1013 T/C rs202041927 - CDS Nonsynonymous[Tyr317His]
1039 .. 1039 G/A rs139413990 - CDS Synonymous[Val325Val]
1090 .. 1090 C/T rs146778046 - CDS Synonymous[Leu342Leu]
1093 .. 1093 C/T rs113679008 - CDS Synonymous[Asp343Asp]
1102 .. 1102 C/A rs199650747 - CDS Nonsynonymous[Asp346Glu]
1119 .. 1119 T/C rs121918110 + CDS Nonsynonymous[Leu352Pro]
1122 .. 1122 C/T rs201129306 - CDS Nonsynonymous[Pro353Leu]
1129 .. 1129 C/T rs138328594 - CDS Synonymous[Ser355Ser]
1161 .. 1161 C/T rs140066253 - CDS Nonsynonymous[Thr366Met]
1165 .. 1165 C/T rs200226479 - CDS Synonymous[Tyr367Tyr]
1195 .. 1195 G/A rs146102517 - CDS Synonymous[Glu377Glu]
1217 .. 1217 T/G rs121918108 + CDS Nonsynonymous[Cys385Gly]
1218 .. 1218 G/T rs121918105 + CDS Nonsynonymous[Cys385Phe]
1237 .. 1237 C/T rs141254386 - CDS Synonymous[Cys391Cys]
1245 .. 1245 C/T rs202125074 - CDS Nonsynonymous[Thr394Met]
1300 .. 1300 C/T rs147030327 - CDS Synonymous[Cys412Cys]
1315 .. 1315 G/T rs1803650 + CDS Nonsynonymous[Lys417Asn]
1352 .. 1352 A/G rs148676984 - CDS Nonsynonymous[Ser430Gly]
1355 .. 1355 A/G rs200379457 - CDS Nonsynonymous[Thr431Ala]
1361 .. 1361 C/T rs121918109 + CDS AA-STOP[Gln433*]
1369 .. 1369 C/T rs144042454 - CDS Synonymous[Ile435Ile]
1384 .. 1384 G/A rs149525964 - CDS Synonymous[Glu440Glu]
1411 .. 1411 T/C rs138217875 - CDS Synonymous[Pro449Pro]
1447 .. 1447 C/T rs146925179 - CDS Synonymous[Tyr461Tyr]
1453 .. 1453 C/T rs1049882 + CDS Synonymous[Pro463Pro]
1454 .. 1454 G/A rs138716613 - CDS Nonsynonymous[Val464Met]
1525 .. 1525 G/A rs114389264 - CDS Synonymous[Ser487Ser]
1534 .. 1534 G/A rs140777530 - CDS Synonymous[Lys490Lys]
1549 .. 1549 T/C rs139178900 - CDS Synonymous[Thr495Thr]
1568 .. 1568 C/T rs143773764 - CDS Nonsynonymous[Pro502Ser]
1592 .. 1592 G/C rs149000433 - CDS Nonsynonymous[Glu510Gln]
1664 .. 1664 A/T rs199602243 - 3'UTR
1734 .. 1734 T/C rs187964417 - 3'UTR
1741 .. 1741 T/C rs183945494 - 3'UTR
1762 ^ 1763 -/C rs71480591 - 3'UTR
1765 ^ 1766 -/C rs36076120 - 3'UTR
1768 .. 1768 C/G rs191704547 - 3'UTR
1770 .. 1770 C/G rs113284884 - 3'UTR
 Microsatellite (Short Tandem Repeat, STR)
No data available
 Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
 Repeat  Repeat mask viewer
No data available
Database links H-GOLDHuman-Gene diversity Of Life-style related Diseases(H-GOLD)
Related H-InvDB links VaryGeneVaryGene;  Repeat mask viewerRepeat Mask Viewer