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H-Invitational ID: HIT000033332 Accession number: BC007612 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 BC007612.1
CAGE tag ID NA
EST ID NA
Clone Number MGC:15695 IMAGE:3351606
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 Provider:MGC/NCI
Annotation project H-Invitational FLcDNA
Length of cDNA 2775[bp] (No. of exon:14)[A:628 T:667 G:785 C:695]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type Eye, retinoblastoma
Develpmental stage NA
Mini-G
Sequence quality information
CDS feature Complete CDS
Kozak sequence NA
PolyA Site: 2736(+) Signal: 2716-2720(+)
Vector/adapter sequence NA
Frame shift NA
Remaining intron NA
Splice site acceptor (NAGNAG) CAGAAG;  TAGGAG; 
Transcript quality feature NA
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 73576055- 73610996
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 HIP000115885
Predicted CDS 19..1593;  524[aa];  Orientation:+1; 
Codon Adaptation Index (CAI). 0.822
Database links RefSeq NP_002769
UniProt P07602
CCDS CCDS7311

Motif information
ORF

length(524),orf(19:1593)
MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQ
TVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKP
NMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH
QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQD
CIQMVTDIQTAVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSE
IAIQMMMHMQPKEICALVGFCDEVKEMPMQTLVPAKVASKNVIPALELVE
PIKKHEVPAKSDVYCEVCEFLVKEVTKLIDNNKTEKEILDAFDKMCSKLP
KSLSEECQEVVDTYGSSILSILLEEVSPELVCSMLHLCSGTRLPALTVHV
TQPKDGGFCEVCKKLVGYLDRNLEKNSTKQEILAALEKGCSFLPDPYQKQ
CDQFVAEYEPVLIEILVEVMDPSFVCLKIGACPSAHKPLLGTEKCIWGPS
YWCQNTETAAQCNAVEHCKRHVWN*
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(79), motif(194:272) 79 IPR011001 Saposin-like [Domain]
length(82), motif(194:275) 82 IPR008139 Saposin B [Domain]
length(40), motif(195:234) 40 IPR007856 Saposin-like type B, 1 [Domain]
length(76), motif(196:271) 76 IPR008139 Saposin B [Domain]
length(22), motif(197:218) 22 IPR008373 Saposin [Family]
length(22), motif(233:254) 22 IPR008373 Saposin [Family]
length(114), motif(237:350) 114 IPR011001 Saposin-like [Domain]
length(34), motif(238:271) 34 IPR008138 Saposin-like type B, 2 [Domain]
length(80), motif(310:389) 80 IPR011001 Saposin-like [Domain]
length(82), motif(311:392) 82 IPR008139 Saposin B [Domain]
length(76), motif(313:388) 76 IPR008139 Saposin B [Domain]
length(38), motif(313:350) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(21), motif(315:335) 21 IPR008373 Saposin [Family]
length(92), motif(353:444) 92 IPR011001 Saposin-like [Domain]
length(35), motif(354:388) 35 IPR008138 Saposin-like type B, 2 [Domain]
length(19), motif(364:382) 19 IPR008373 Saposin [Family]
length(80), motif(405:484) 80 IPR011001 Saposin-like [Domain]
length(82), motif(405:486) 82 IPR008139 Saposin B [Domain]
length(23), motif(406:428) 23 IPR008373 Saposin [Family]
length(76), motif(407:482) 76 IPR008139 Saposin B [Domain]
length(38), motif(407:444) 38 IPR007856 Saposin-like type B, 1 [Domain]
length(23), motif(438:460) 23 IPR008373 Saposin [Family]
length(78), motif(446:523) 78 IPR011001 Saposin-like [Domain]
length(34), motif(449:482) 34 IPR008138 Saposin-like type B, 2 [Domain]
length(24), motif(460:483) 24 IPR008373 Saposin [Family]
length(37), motif(488:524) 37 IPR003119 Saposin type A [Domain]
length(22), motif(489:510) 22 IPR008373 Saposin [Family]
length(34), motif(491:524) 34 IPR003119 Saposin type A [Domain]

Gene function information  Gene family PPI viewer Similarity Search Tool TACT
H-Inv ID HIT000033332
H-Inv cluster ID Locus viewHIX0008908
Accession number BC007612.1
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 = 100.0%/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 PSAP
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 HIP000115885
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. 
FR ID FR006585
Accession
Description
Location
PMID

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 4e-12 42.1 74/78 a.64.1.1
195 272 1n69A 2e-14 100.0 78/78 a.64.1.3
312 389 2gtgA1 1e-14 79.5 78/78 a.64.1.1
406 483 1nklA 9e-14 19.5 77/78 a.64.1.1
Related H-InvDB links GTOP GTOP

Gene expression information  H-ANGEL DNAProbeLocator Last modified:27-May-2015
Tissue-specific expression  H-ANGEL NA
Probe
information DNAProbeLocator
AceGene AGhsB130712; 
Affymetrix
GeneChip
HG-Focus NA
HG-U133 200871_s_at; 
HG-U133A 200871_s_at; 
HG-U133A_2 200871_s_at; 
HG-U133B NA
HG-U133_Plus_2 200871_s_at; 
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3251267;  3251274;  3293763;  3293775;  3293777;  3293779;  3293780;  3293781;  3293782;  3293787;  3293788;  3293789;  3293790;  3293793;  3293794;  3293795;  3293800; 
HuGeneFL NA
Agilent Human 1A Oligo Microarray:PGID215 NA
Whole Human Genome Oligo Microarray:PGID247 A_24_P309317; 
Related H-InvDB links H-ANGELH-ANGEL DNAProbeLocatorDNAProbeLocator

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
8 .. 8 C/G rs28365839 + 5'UTR
9 .. 9 A/G rs76455588 - 5'UTR
15 .. 15 T/C rs2070188 + 5'UTR
19 .. 19 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
34 .. 34 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
54 .. 54 C/G rs11555014 + CDS Synonymous[Gly12Gly]
66 .. 66 C/T rs199808371 - CDS Synonymous[Ala16Ala]
78 .. 78 T/C rs188252882 - CDS Synonymous[Leu20Leu]
85 .. 85 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
89 ^ 90 -/A rs34228343 - CDS
96 .. 96 C/T rs74145688 - CDS Synonymous[Thr26Thr]
101 .. 101 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
106 .. 106 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
112 .. 112 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
131 .. 131 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
135 .. 135 G/A rs200836594 - CDS Synonymous[Ala39Ala]
138 .. 138 C/T rs141231601 - CDS Synonymous[Ser40Ser]
165 .. 165 G/A rs112119208 - CDS Synonymous[Leu49Leu]
171 .. 171 C/T rs11555016 + CDS Synonymous[Thr51Thr]
172 .. 172 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
207 .. 207 C/T rs111369573 - CDS Synonymous[Cys63Cys]
222 .. 222 C/T rs143981174 - CDS Synonymous[Asp68Asp]
232 .. 232 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
235 .. 235 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
363 .. 363 T/G rs11555017 + CDS Synonymous[Pro115Pro]
376 .. 376 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
397 .. 397 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
506 .. 506 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
558 .. 558 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
567 .. 567 C/T rs142002239 - CDS Synonymous[Asp183Asp]
574 .. 574 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
575 .. 575 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
583 .. 583 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
588 .. 588 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
595 .. 595 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
596 .. 596 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
600 .. 600 T/C rs150177878 - CDS Synonymous[Asn194Asn]
607 .. 607 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
634 .. 634 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
639 .. 639 C/T rs140702696 - CDS Synonymous[Asp207Asp]
641 .. 641 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
655 .. 655 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
661 .. 661 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
668 .. 668 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
713 .. 713 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
715 .. 715 C/T/G rs146934980 - CDS
732 .. 732 C/G rs141199649 - CDS Synonymous[Ala238Ala]
740 .. 740 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
741 .. 741 C/T rs147805036 - CDS Synonymous[Cys241Cys]
750 .. 750 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
759 .. 759 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
816 .. 816 G/A rs199672678 - CDS Synonymous[Ala266Ala]
840 .. 840 G/A rs149202005 - CDS Synonymous[Val274Val]
883 .. 883 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
912 .. 912 G/A rs150048951 - CDS Synonymous[Leu298Leu]
932 .. 932 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
958 .. 958 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
984 .. 984 G/A rs139413990 - CDS Synonymous[Val322Val]
1035 .. 1035 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1038 .. 1038 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1047 .. 1047 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1064 .. 1064 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1067 .. 1067 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1074 .. 1074 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1106 .. 1106 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1110 .. 1110 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1140 .. 1140 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1162 .. 1162 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1163 .. 1163 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1182 .. 1182 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1190 .. 1190 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1245 .. 1245 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1260 .. 1260 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1297 .. 1297 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1300 .. 1300 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1306 .. 1306 C/T rs121918109 + CDS AA-STOP[Gln430*]
1314 .. 1314 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1329 .. 1329 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1356 .. 1356 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1392 .. 1392 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1398 .. 1398 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1399 .. 1399 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1470 .. 1470 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1479 .. 1479 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1494 .. 1494 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1513 .. 1513 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1537 .. 1537 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
1609 .. 1609 A/T rs199602243 - 3'UTR
1679 .. 1679 T/C rs187964417 - 3'UTR
1686 .. 1686 T/C rs183945494 - 3'UTR
1707 ^ 1708 -/C rs71480591 - 3'UTR
1710 ^ 1711 -/C rs36076120 - 3'UTR
1713 .. 1713 C/G rs191704547 - 3'UTR
1715 .. 1715 C/G rs113284884 - 3'UTR
1846 .. 1846 G/C rs113209259 - 3'UTR
1858 .. 1858 C/T rs150766866 - 3'UTR
1913 .. 1913 A/T rs14595 - 3'UTR
1969 .. 1969 A/G rs141906397 - 3'UTR
2022 .. 2022 C/G rs11555018 + 3'UTR
2180 .. 2180 G/A rs11555020 + 3'UTR
2192 .. 2192 G/T rs1803651 + 3'UTR
2229 .. 2229 C/T rs138390739 - 3'UTR
2247 .. 2247 G/T rs41282246 - 3'UTR
2330 .. 2330 G/A rs147046509 - 3'UTR
2367 .. 2367 C/T rs200907537 - 3'UTR
2368 .. 2368 G/A rs79662404 - 3'UTR
2389 .. 2389 T/C rs12844 + 3'UTR
2390 .. 2390 A/G rs141553639 - 3'UTR
2440 .. 2440 C/T rs1053333 + 3'UTR
2459 .. 2459 A/C rs1056711 + 3'UTR
2484 .. 2484 A/C/G rs7869 + 3'UTR
2512 .. 2512 G/A rs1054293 + 3'UTR
2527 .. 2527 A/C rs188600883 - 3'UTR
2574 .. 2574 G/A rs1054851 + 3'UTR
2616 .. 2616 C/T rs1055754 + 3'UTR
2678 .. 2678 G/A rs41282244 - 3'UTR
2687 .. 2687 G/T rs10390 + 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