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H-Invitational ID: HIT000331070 Accession number: AK223290 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 AK223290.1
CAGE tag ID NA
EST ID NA
Clone Number SYN03435
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 1972[bp] (No. of exon:14)[A:448 T:446 G:558 C:520]
Devision HUM
Molecular type mRNA
Library origin Cell type NA
Tissue type synovial membrane (knee)
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 73576829- 73611006
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 HIP000145987
Predicted CDS 29..1603;  524[aa];  Orientation:+2; 
Codon Adaptation Index (CAI). 0.822

Motif information
ORF

length(524),orf(29:1603) MYALFLLASLLGAALAGPVLGLKECTRGSAVWCQNVKTASDCGAVKHCLQ TVWNKPTVKSLPCDICKDVVTAAGDMLKDNATEEEILVYLEKTCDWLPKP NMSASCKEIVDSYLPVILDIIKGEMSRPGEVCSALNLCESLQKHLAELNH QKQLESNKIPELDMTEVVAPFMANIPLLLYPQDGPRSKPQPKDNGDVCQD CIRMVTDIQTAVRTNSTFVQALVEHVKEECDRLGPGMADICKNYISQYSE 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 HIT000331070
H-Inv cluster ID Locus viewHIX0008908
Accession number AK223290.1
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 = 99.809%/100.0%] to Homo sapiens (Human). protein.
Experimental evidence Protein evidence
PubMed ID 1371116;  1612590;  1958198;  2013321;  2019586;  2060627;  2209618;  2302219;  2320574;  2498298;  2515150;  2717620;  2825202;  2842863;  2845979;  2868718;  3048308;  3242555;  3442600;  7730378;  7866401;  8323276;  8370464;  10196694;  10406958;  10510427;  10562467;  10682309;  11180632;  11309366;  12510003;  12518053;  15164054;  15489334;  15773042;  17919309;  19159218;  19167329;  21269460;  ALL; 
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 HIP000145987
No. of interaction 42
Interaction partner(s) HIP000021398;  HIP000021398;  HIP000021818;  HIP000022671;  HIP000023822;  HIP000025218;  HIP000027358;  HIP000027358;  HIP000027633;  HIP000027819;  HIP000027819;  HIP000028809;  HIP000036277;  HIP000036277;  HIP000043309;  HIP000044974;  HIP000045907;  HIP000045907;  HIP000046272;  HIP000054389;  HIP000060961;  HIP000071861;  HIP000076344;  HIP000090978;  HIP000090978;  HIP000092457;  HIP000094247;  HIP000096658;  HIP000100064;  HIP000100064;  HIP000100089;  HIP000100824;  HIP000105862;  HIP000107528;  HIP000112312;  HIP000112312;  HIP000128077;  HIP000130959;  HIP000137500;  HIP000337035;  HIP000347257;  HIP000357639; 
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 1e-12 42.1 74/78 a.64.1.1
195 272 1n69A 7e-14 98.7 78/78 a.64.1.3
312 389 2gtgA1 4e-15 79.5 78/78 a.64.1.1
409 482 2gtgA1 4e-14 36.5 74/78 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 NA
HG-U133A NA
HG-U133A_2 NA
HG-U133B NA
HG-U133_Plus_2 NA
HG-U95 NA
HG-U95A NA
HG-U95B NA
HG-U95C NA
HG-U95D NA
HG-U95E NA
HG-U95Av2 NA
HuEx-1_0 3251274;  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 Viewer;  LEGENDALEGENDA; 

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
18 .. 18 C/G rs28365839 + 5'UTR
19 .. 19 A/G rs76455588 - 5'UTR
25 .. 25 C/T rs2070188 + 5'UTR
29 .. 29 A/T rs121918106 + CDS Nonsynonymous[Met1Leu]
44 .. 44 C/T rs148279196 - CDS Nonsynonymous[Leu6Phe]
64 .. 64 C/G rs11555014 + CDS Synonymous[Gly12Gly]
76 .. 76 C/T rs199808371 - CDS Synonymous[Ala16Ala]
88 .. 88 T/C rs188252882 - CDS Synonymous[Leu20Leu]
95 .. 95 A/G rs143016278 - CDS Nonsynonymous[Lys23Glu]
99 ^ 100 -/A rs34228343 - CDS
106 .. 106 C/T rs74145688 - CDS Synonymous[Thr26Thr]
111 .. 111 G/T rs185057837 - CDS Nonsynonymous[Gly28Val]
116 .. 116 G/T rs144942998 - CDS Nonsynonymous[Ala30Ser]
122 .. 122 T/G rs200008050 - CDS Nonsynonymous[Trp32Gly]
141 .. 141 C/T rs145181011 - CDS Nonsynonymous[Thr38Met]
145 .. 145 G/A rs200836594 - CDS Synonymous[Ala39Ala]
148 .. 148 C/T rs141231601 - CDS Synonymous[Ser40Ser]
175 .. 175 G/A rs112119208 - CDS Synonymous[Leu49Leu]
181 .. 181 C/T rs11555016 + CDS Synonymous[Thr51Thr]
182 .. 182 G/A rs147920923 - CDS Nonsynonymous[Val52Ile]
217 .. 217 C/T rs111369573 - CDS Synonymous[Cys63Cys]
232 .. 232 C/T rs143981174 - CDS Synonymous[Asp68Asp]
242 .. 242 G/A rs150701404 - CDS Nonsynonymous[Ala72Thr]
245 .. 245 G/A rs11555015 + CDS Nonsynonymous[Ala73Thr]
373 .. 373 T/G rs11555017 + CDS Synonymous[Pro115Pro]
386 .. 386 A/G rs142784765 - CDS Nonsynonymous[Ile120Val]
407 .. 407 C/T rs148519599 - CDS Nonsynonymous[Arg127Cys]
516 .. 516 A/T rs146301708 - CDS Nonsynonymous[Asp163Val]
568 .. 568 C/T rs11555021 + CDS Synonymous[Tyr180Tyr]
577 .. 577 C/T rs142002239 - CDS Synonymous[Asp183Asp]
584 .. 584 C/T rs193088462 - CDS Nonsynonymous[Arg186Cys]
585 .. 585 G/A rs138880818 - CDS Nonsynonymous[Arg186His]
593 .. 593 C/T rs188854022 - CDS Nonsynonymous[Pro189Ser]
598 .. 598 G/T rs142272618 - CDS Nonsynonymous[Gln190His]
605 .. 605 G/C rs149305591 - CDS Nonsynonymous[Asp193His]
606 .. 606 A/G rs138636858 - CDS Nonsynonymous[Asp193Gly]
610 .. 610 T/C rs150177878 - CDS Synonymous[Asn194Asn]
617 .. 617 G/A rs191952316 - CDS Nonsynonymous[Val197Ile]
644 .. 644 A/G rs139503658 - CDS Nonsynonymous[Thr206Ala]
649 .. 649 C/T rs140702696 - CDS Synonymous[Asp207Asp]
651 .. 651 T/G rs200319381 - CDS Nonsynonymous[Ile208Ser]
665 .. 665 C/T rs150521779 - CDS Nonsynonymous[Arg213Trp]
671 .. 671 A/C rs121918107 + CDS Nonsynonymous[Asn215His]
678 .. 678 C/T rs121918103 + CDS Nonsynonymous[Thr217Ile]
723 .. 723 G/T rs147265566 - CDS Nonsynonymous[Arg232Leu]
725 .. 725 C/T/G rs146934980 - CDS
742 .. 742 C/G rs141199649 - CDS Synonymous[Ala238Ala]
750 .. 750 G/C rs121918104 + CDS Nonsynonymous[Cys241Ser]
751 .. 751 C/T rs147805036 - CDS Synonymous[Cys241Cys]
760 .. 760 T/C rs146732171 - CDS Synonymous[Tyr244Tyr]
769 .. 769 G/T rs202069470 - CDS Nonsynonymous[Gln247His]
826 .. 826 G/A rs199672678 - CDS Synonymous[Ala266Ala]
850 .. 850 G/A rs149202005 - CDS Synonymous[Val274Val]
893 .. 893 T/C rs145404688 - CDS Nonsynonymous[Ser289Pro]
922 .. 922 G/A rs150048951 - CDS Synonymous[Leu298Leu]
942 .. 942 A/G rs113554687 - CDS Nonsynonymous[His305Arg]
968 .. 968 T/C rs202041927 - CDS Nonsynonymous[Tyr314His]
994 .. 994 G/A rs139413990 - CDS Synonymous[Val322Val]
1045 .. 1045 C/T rs146778046 - CDS Synonymous[Leu339Leu]
1048 .. 1048 C/T rs113679008 - CDS Synonymous[Asp340Asp]
1057 .. 1057 C/A rs199650747 - CDS Nonsynonymous[Asp343Glu]
1074 .. 1074 T/C rs121918110 + CDS Nonsynonymous[Leu349Pro]
1077 .. 1077 C/T rs201129306 - CDS Nonsynonymous[Pro350Leu]
1084 .. 1084 C/T rs138328594 - CDS Synonymous[Ser352Ser]
1116 .. 1116 C/T rs140066253 - CDS Nonsynonymous[Thr363Met]
1120 .. 1120 C/T rs200226479 - CDS Synonymous[Tyr364Tyr]
1150 .. 1150 G/A rs146102517 - CDS Synonymous[Glu374Glu]
1172 .. 1172 T/G rs121918108 + CDS Nonsynonymous[Cys382Gly]
1173 .. 1173 G/T rs121918105 + CDS Nonsynonymous[Cys382Phe]
1192 .. 1192 C/T rs141254386 - CDS Synonymous[Cys388Cys]
1200 .. 1200 C/T rs202125074 - CDS Nonsynonymous[Thr391Met]
1255 .. 1255 C/T rs147030327 - CDS Synonymous[Cys409Cys]
1270 .. 1270 G/T rs1803650 + CDS Nonsynonymous[Lys414Asn]
1307 .. 1307 A/G rs148676984 - CDS Nonsynonymous[Ser427Gly]
1310 .. 1310 A/G rs200379457 - CDS Nonsynonymous[Thr428Ala]
1316 .. 1316 C/T rs121918109 + CDS AA-STOP[Gln430*]
1324 .. 1324 C/T rs144042454 - CDS Synonymous[Ile432Ile]
1339 .. 1339 G/A rs149525964 - CDS Synonymous[Glu437Glu]
1366 .. 1366 T/C rs138217875 - CDS Synonymous[Pro446Pro]
1402 .. 1402 C/T rs146925179 - CDS Synonymous[Tyr458Tyr]
1408 .. 1408 C/T rs1049882 + CDS Synonymous[Pro460Pro]
1409 .. 1409 G/A rs138716613 - CDS Nonsynonymous[Val461Met]
1480 .. 1480 G/A rs114389264 - CDS Synonymous[Ser484Ser]
1489 .. 1489 G/A rs140777530 - CDS Synonymous[Lys487Lys]
1504 .. 1504 T/C rs139178900 - CDS Synonymous[Thr492Thr]
1523 .. 1523 C/T rs143773764 - CDS Nonsynonymous[Pro499Ser]
1547 .. 1547 G/C rs149000433 - CDS Nonsynonymous[Glu507Gln]
1619 .. 1619 A/T rs199602243 - 3'UTR
1689 .. 1689 T/C rs187964417 - 3'UTR
1696 .. 1696 T/C rs183945494 - 3'UTR
1717 ^ 1718 -/C rs71480591 - 3'UTR
1720 ^ 1721 -/C rs36076120 - 3'UTR
1723 .. 1723 C/G rs191704547 - 3'UTR
1725 .. 1725 C/G rs113284884 - 3'UTR
1856 .. 1856 G/C rs113209259 - 3'UTR
1868 .. 1868 C/T rs150766866 - 3'UTR
1923 .. 1923 A/T rs14595 - 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;